### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OPA1)
# 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}}"
"OPA1" "optic atrophy 1 (autosomal dominant)" "3" "q28-q29" "no" "LRG_337" "UD_132118447290" "{DOI:Ferré 2005:10.1002/humu.20161}, {DOI:Ferré 2015:10.1002/humu.22703}, {DOI:Le Roux 2019:10.1186/s13023-019-1187-1}" "http://www.LOVD.nl/OPA1" "" "1" "8140" "4976" "605290" "1" "1" "1" "1" "Mutations in the optic atrophy 1 gene (OPA1; MIM# 605290) are responsible for about 60-80% of the cases of autosomal dominant optic atrophy (DOA, Kjer type; MIM# 165500; characterized by moderate to severe loss of visual acuity, blue-yellow dyschromatopsia and central scotoma). The spectrum of OPA1-related disorders is highly variable. The age of onset varies from birth to over 60 years, and the severity of the visual loss ranges from subclinical loss to severe blindness. Extra ocular features, involving the central, peripheral and autonomous nervous systems, complicating the optic neuropathy are reported in about 20% of the patients carrying OPA1 pathogenic variants, leading to conditions described as the \"DOA plus\" or \"DOA+\" syndromes (MIM# 125250). A phenotype fully compatible with the Behr syndrome (MIM# 210000), associating early onset and severe optic neuropathy with spinocerebellar ataxia and retarded development was also reported.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OPA1_codingDNA.html" "1" "" "\r\n![\"Mitodyn.org](\"https://pro2-bar-s3-cdn-cf6.myportfolio.com/ca26a62d-d680-4f75-878a-ede830adb2ba/a190b1b0-5d6a-4379-b122-12e941febdf2.png?h=ce56252a54da27c038dba06b8f1f8370\")
\r\n\r\nA database from the MITOchondrial DYNamics variation portal \"Mitodyn.org\".\r\nThis database is also one of the \"Eye disease\" gene variant databases.\r\n " "-1" "" "-1" "00001" "2003-11-13 00:00:00" "00091" "2021-08-06 12:07:19" "00000" "2023-11-27 17:35:39"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00015048" "OPA1" "transcript variant 8" "001" "NM_130837.2" "" "NP_570850.2" "" "" "" "-234" "6259" "3048" "193310933" "193415600" "" "0000-00-00 00:00:00" "" ""
"00023887" "OPA1" "transcript variant 1" "004" "NM_015560.2" "" "NP_056375.2" "" "" "" "-234" "6094" "2883" "193310933" "193415600" "00008" "2013-11-25 18:41:38" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 18
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2021-12-10 21:51:32"
"00142" "SCA5" "ataxia, spinocerebellar, type 5 (SCA-5)" "AD" "600224" "" "" "" "00006" "2013-06-10 21:18:33" "00006" "2021-12-10 21:51:32"
"00168" "PHARC" "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC)" "AR" "612674" "" "" "" "00006" "2013-07-29 22:25:56" "00006" "2021-12-10 21:51:32"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"00485" "OA1" "albinism, ocular, type I (OA-1,Nettleship-Falls type)" "XL" "300500" "eyes" "" "" "00006" "2014-07-24 23:05:27" "00006" "2021-12-10 21:51:32"
"01277" "OPA+" "atrophy, optic, plus syndrome (OPA+)" "AD" "125250" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01477" "OPA1" "atrophy, optic, type 1 (OPA-1)" "AD" "165500" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02412" "SPCH" "speech-language disorder (SPCH)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 16:20:22"
"02592" "NTG" "glaucoma, normal tension, susceptibility to" "" "606657" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"03015" "SPG18" "paraplegia, spastic, type 18 (SPG-18)" "AR" "611225" "" "" "" "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"
"04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" ""
"04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50"
"05289" "BEHRS" "Behr syndrome (BEHRS)" "AR" "210000" "" "autosomal recessive; early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity and mental retardation" "" "00006" "2017-06-23 15:28:12" "00006" "2021-12-10 21:51:32"
"05290" "MTDPS14" "mitochondrial DNA depletion syndrome, type 14 (MTDPS-14)" "" "616896" "" "" "" "00006" "2017-06-23 15:30:23" "00006" "2021-12-10 21:51:32"
"05611" "NDD" "neurodevelopmental delay (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2019-08-07 19:22:28"
"05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{geneid}}" "{{diseaseid}}"
"OPA1" "01277"
"OPA1" "01477"
"OPA1" "02592"
"OPA1" "04293"
"OPA1" "05289"
"OPA1" "05290"
"OPA1" "05684"
## Individuals ## Do not remove or alter this header ##
## Count = 1068
"{{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}}"
"00036419" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
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"00054871" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "Pat10"
"00054875" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat26"
"00080840" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" ""
"00103965" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "113952"
"00105018" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "no" "Argentina" "" "0" "" "" "" "81ORG1"
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"00105443" "" "" "" "1" "" "00091" "{PMID:Alexander 2000:11017080}" "" "" "" "Cuba" "" "0" "" "" "" ""
"00105444" "" "" "" "1" "" "00091" "{PMID:Alexander 2000:11017080}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
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"00105446" "" "" "" "1" "" "00091" "{PMID:Alexander 2000:11017080}" "" "" "" "Germany" "" "0" "" "" "" ""
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"00105449" "" "" "" "1" "" "00091" "{PMID:Toomes 2001:11440989}" "" "" "" "" "" "0" "" "" "" ""
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"00105521" "" "" "" "1" "" "00091" "{PMID:Pesch 2001:11440988}" "" "" "" "" "" "0" "" "" "" ""
"00105522" "" "" "" "1" "" "00091" "{PMID:Pesch 2001:11440988}" "" "" "" "" "" "0" "" "" "" ""
"00105523" "" "" "" "1" "" "00091" "{PMID:Pesch 2001:11440988}" "" "" "" "" "" "0" "" "" "" ""
"00105524" "" "" "" "1" "" "00091" "{PMID:Pesch 2001:11440988}" "" "" "" "" "" "0" "" "" "" ""
"00105525" "" "" "" "1" "" "00091" "{PMID:Shimizu 2002:12566046}" "" "" "" "" "" "0" "" "" "" ""
"00105526" "" "" "" "1" "" "00091" "{PMID:Shimizu 2002:12063046}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105527" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105528" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105529" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105530" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105531" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105532" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105533" "" "" "" "1" "" "00091" "{PMID:Delettre 2001:11810270}" "" "" "" "" "" "0" "" "" "" ""
"00105534" "" "" "" "1" "" "00091" "{PMID:Yamada 2003:12842213}" "" "" "" "" "" "0" "" "" "" ""
"00105535" "" "" "" "1" "" "00091" "{PMID:Pesch 2001:11440988}" "" "" "" "" "" "0" "" "" "" ""
"00105536" "" "" "" "1" "" "00091" "{PMID:Thiselton 2002:12036970}" "" "" "" "" "" "0" "" "" "" ""
"00105537" "" "" "" "1" "" "00091" "{PMID:Toomes 2001:11440989}" "" "" "" "" "" "0" "" "" "" ""
"00105538" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105539" "" "" "" "1" "" "00091" "{PMID:Hayashi 2005:16006781}" "" "" "" "" "" "0" "" "" "" ""
"00105540" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105541" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105542" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105543" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105544" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105545" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105546" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105547" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105548" "" "" "" "1" "" "00091" "{PMID:Kim 2005:15781809}" "" "" "" "Korea" "" "0" "" "" "" ""
"00105549" "" "" "" "1" "" "00091" "{PMID:Kim 2005:15781809}" "" "" "" "Korea" "" "0" "" "" "" ""
"00105550" "" "" "" "1" "" "00091" "{PMID:Kim 2005:15781809}" "" "" "" "Korea" "" "0" "" "" "" ""
"00105551" "" "" "" "1" "" "00091" "{PMID:Kim 2005:15781809}" "" "" "" "Korea" "" "0" "" "" "" ""
"00105552" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105553" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105554" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105555" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105556" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105557" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105558" "" "" "" "1" "" "00091" "{PMID:Puomila 2005:15948788}" "" "" "" "Finland" "" "0" "" "" "" ""
"00105559" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105560" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105561" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105562" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105563" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105564" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105565" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105566" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105567" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105568" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105569" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105570" "" "" "" "1" "" "00091" "{PMID:Han 2006:16617242}" "" "" "" "" "" "0" "" "" "" ""
"00105571" "" "" "" "1" "" "00091" "{PMID:Dadgar 2006:16698014}" "" "" "" "Iran" "" "0" "" "" "" ""
"00105572" "" "" "" "1" "" "00091" "{PMID:Schimpf 2006:16323009}" "" "" "" "" "" "0" "" "" "" ""
"00105573" "" "" "" "1" "" "00091" "{PMID:Schimpf 2006:16323009}" "" "" "" "" "" "0" "" "" "" ""
"00105574" "" "" "" "1" "" "00091" "{PMID:Schimpf 2006:16323009}" "" "" "" "" "" "0" "" "" "" ""
"00105575" "" "" "" "1" "" "00091" "{PMID:Schimpf 2006:16323009}" "" "" "" "" "" "0" "" "" "" ""
"00105576" "" "" "" "1" "" "00091" "{PMID:Schimpf 2006:16323009}" "" "" "" "" "" "0" "" "" "" ""
"00105577" "" "" "" "1" "" "00091" "{PMID:Schimpf 2006:16323009}" "" "" "" "" "" "0" "" "" "" ""
"00105578" "" "" "" "1" "" "00091" "{PMID:Amati-Bonneau 2005:15617556}" "" "" "" "France" "" "0" "" "" "" ""
"00105579" "" "" "" "1" "" "00091" "{PMID:Nakamura 2006:16513463}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105580" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "France" "" "0" "" "" "" ""
"00105581" "" "" "" "1" "" "00091" "{PMID:Nakamura 2006:16513463}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105582" "" "" "" "1" "" "00091" "{PMID:Nakamura 2006:16513463}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105583" "" "" "" "1" "" "00091" "{PMID:Nakamura 2006:16513463}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105584" "" "" "" "1" "" "00091" "{PMID:Nakamura 2006:16513463}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105585" "" "" "" "1" "" "00091" "{PMID:Cardaioli 2006:16331355}" "" "" "" "Italy" "" "0" "" "" "" ""
"00105586" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105587" "" "" "" "1" "" "02104" "{PMID:Ban 2007:17579882}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105588" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105589" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105590" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105591" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105592" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105593" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105594" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105595" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105596" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105597" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105598" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105599" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105600" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105601" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105602" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105603" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105604" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105605" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105606" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105607" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105608" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105609" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105610" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105611" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105612" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105613" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105614" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105615" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105616" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105617" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105618" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105619" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105620" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105621" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105622" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105623" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105624" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105625" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105626" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105627" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105628" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105629" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105630" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105631" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105632" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105633" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105634" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105635" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105636" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105637" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105638" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105639" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105640" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105641" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105642" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105643" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105644" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105645" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105646" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105647" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105648" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105649" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105650" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105651" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105652" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105653" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105654" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105655" "" "" "" "1" "" "02105" "{PMID:Liguori 2008:18204809}" "" "" "" "Italy" "" "0" "" "" "" ""
"00105656" "" "" "" "1" "" "00091" "{PMID:Cornille 2008:18360822}" "" "" "" "" "" "0" "" "" "" ""
"00105657" "" "" "" "1" "" "00091" "{PMID:Nakamura 2006:16513463}" "" "" "" "Japan" "" "0" "" "" "" ""
"00105658" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105659" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105660" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105661" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105662" "" "" "" "1" "" "00091" "{PMID:Kim 2005:15781809}" "" "" "" "Korea" "" "0" "" "" "" ""
"00105663" "" "" "" "1" "" "00091" "{PMID:Nakamura 2005:16021496}" "" "" "" "" "" "0" "" "" "" ""
"00105664" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105665" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105666" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105667" "" "" "" "1" "" "00091" "{PMID:Ferre 2009:19319978}" "" "" "" "" "" "0" "" "" "" ""
"00105668" "" "" "" "1" "" "00091" "{PMID:Chen 2007:17188070}" "" "" "" "China" "" "0" "" "" "Yunnan province" ""
"00105669" "" "" "" "1" "" "00091" "{PMID:Cohn 2007:17306754}" "" "" "" "" "" "0" "" "" "" ""
"00105670" "" "" "" "1" "" "00091" "{PMID:Cohn 2007:17306754}" "" "" "" "" "" "0" "" "" "" ""
"00105671" "" "" "" "1" "" "00091" "{PMID:Cohn 2007:17306754}" "" "" "" "" "" "0" "" "" "" ""
"00105672" "" "" "" "1" "" "00091" "{PMID:Spinazzi 2009:18678599}" "" "" "" "" "" "0" "" "" "" ""
"00105673" "" "" "" "1" "" "00091" "{PMID:Yen 2010:19969356}" "" "" "" "China" "" "0" "" "" "" ""
"00105674" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Italy" "" "0" "" "" "" ""
"00105675" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Norway" "" "0" "" "" "" ""
"00105676" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Norway" "" "0" "" "" "" ""
"00105677" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "France" "" "0" "" "" "" ""
"00105678" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Brazil" "" "0" "" "" "" ""
"00105679" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Italy" "" "0" "" "" "" ""
"00105680" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Germany" "" "0" "" "" "" ""
"00105681" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "" "Italy" "" "0" "" "" "" ""
"00105682" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105683" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105684" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105685" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105686" "" "" "" "1" "" "00091" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105687" "" "" "" "1" "" "00091" "{PMID:Fuhrmann 2009:19181907}" "" "" "" "" "" "0" "" "" "" ""
"00105688" "" "" "" "1" "" "00091" "{PMID:Fuhrmann 2009:19181907}" "" "" "" "" "" "0" "" "" "" "FamOAK334"
"00105689" "" "" "" "3" "" "00091" "{PMID:Fuhrmann 2009:19181907}" "2-generation family, affected father, son and daughter" "F;M" "" "" "" "0" "" "" "" "FamOAK230"
"00105690" "" "" "" "3" "" "00091" "{PMID:Fuhrmann 2009:19181907}" "3 families with similar MLPA change (OAK46, OAK144, OAK66)" "" "" "" "" "0" "" "" "" ""
"00105691" "" "" "" "2" "" "00091" "{PMID:Fuhrmann 2009:19181907}" "" "F" "" "" "" "0" "" "" "" "FamOAK103"
"00105692" "" "" "" "14" "" "00091" "{PMID:Fuhrmann 2009:19181907}" "5-generation family, 14 affecteds (7F, 7M)" "F;M" "no" "" "" "0" "" "" "" "FamOAK71"
"00105693" "" "" "" "1" "" "01536" "Mavrogiannis LA, Bitner-Glindzicz M, Charlton RS (unpublished)" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105694" "" "" "" "1" "" "01536" "Mavrogiannis LA, Prescott K, Charlton RS (unpublished)" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105695" "" "" "" "1" "" "01536" "Mavrogiannis LA, Cole R, Black GC, Charlton RS (unpublished)" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105696" "" "" "" "1" "" "01536" "Berry IR, Black GC, Charlton RS (unpublished)" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105697" "" "" "" "1" "" "01536" "Mavrogiannis LA, Joss S, Charlton RS (unpublished)" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105698" "" "" "" "1" "" "02106" "Pickart A, Bick D (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105699" "" "" "" "1" "" "01536" "Mavrogiannis LA, Clayton-Smith J, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105700" "" "" "" "1" "" "01536" "Mavrogiannis LA, Robertson L, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105701" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "M" "" "Germany;Italy" "" "0" "" "" "" ""
"00105702" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "M" "" "" "" "0" "" "" "" ""
"00105703" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "M" "" "Germany;Italy" "" "0" "" "" "" ""
"00105704" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "F" "" "Germany;Italy" "" "0" "" "" "" ""
"00105705" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "M" "" "" "" "0" "" "" "" ""
"00105706" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "F" "" "" "" "0" "" "" "" ""
"00105707" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "F" "" "" "" "0" "" "" "" ""
"00105708" "" "" "" "1" "" "02108" "{PMID:Bonifert 2014:24970096}" "" "M" "" "" "" "0" "" "" "" ""
"00105709" "" "" "" "1" "" "02109" "{PMID:Ranieri 2012:22197506}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00105710" "" "" "" "1" "" "02109" "{PMID:Ranieri 2012:22197506}" "" "F" "" "Italy" "" "0" "" "" "" ""
"00105711" "" "" "" "1" "" "02109" "{PMID:Liskova 2013:23387428}" "" "F" "" "Czech Republic" "" "0" "" "" "" ""
"00105712" "" "" "" "1" "" "02109" "{PMID:Liskova 2013:23387428}" "" "M" "" "" "" "0" "" "" "" ""
"00105713" "" "" "" "1" "" "02109" "{PMID:Schaaf 2011:21636302}" "" "M" "" "United States" "" "0" "" "" "" ""
"00105714" "" "" "" "1" "" "02109" "{PMID:Schaaf 2011:21636302}" "" "F" "" "United States" "" "0" "" "" "" ""
"00105715" "" "" "" "1" "" "02109" "{PMID:Schaaf 2011:21636302}" "" "M" "" "United States" "" "0" "" "" "" ""
"00105716" "" "" "" "1" "" "02109" "{PMID:Schaaf 2011:21636302}" "" "F" "" "United States" "" "0" "" "" "" ""
"00105717" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105718" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105719" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105720" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105721" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105722" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105723" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105724" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105725" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105726" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105727" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105728" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105729" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105730" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105731" "" "" "" "1" "" "02109" "{PMID:Almind 2012:22857269}" "" "" "" "Denmark" "" "0" "" "" "" ""
"00105732" "" "" "" "8" "" "02109" "{PMID:Zhang 2012:22382025}" "4-generation family, 8 affected (4F, 4M), index: III-11" "" "" "China" "" "0" "" "" "" "III-11"
"00105733" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105734" "" "" "" "1" "" "02109" "" "Updated from Lab-ID: NAN2018#38" "M" "" "France" "" "0" "" "" "" ""
"00105735" "" "" "" "1" "" "02109" "" "" "M" "" "" "" "0" "" "" "" ""
"00105736" "" "" "" "1" "" "02109" "" "" "M" "" "" "" "0" "" "" "" ""
"00105737" "" "" "" "1" "" "02109" "" "" "M" "" "" "" "0" "" "" "" ""
"00105738" "" "" "" "1" "" "02109" "{PMID:Galvez-Ruiz 2013:24051421}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" ""
"00105739" "" "" "" "1" "" "02109" "{PMID:Galvez-Ruiz 2013:24051421}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" ""
"00105740" "" "" "" "1" "" "02109" "{PMID:Galvez-Ruiz 2013:24051421}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" ""
"00105741" "" "" "" "1" "" "02109" "{PMID:Galvez-Ruiz 2013:24051421}" "" "F" "" "Saudi Arabia" "" "0" "" "" "" ""
"00105742" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105743" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105744" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105745" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105746" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105747" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105748" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105749" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105750" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105751" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105752" "" "" "" "1" "" "02109" "" "Updated from Lab-ID: NAN2018 # 53" "M" "" "France" "" "0" "" "" "" ""
"00105753" "" "" "" "1" "" "02109" "" "Updated from Lab-ID: NAN2018#10" "F" "" "France" "" "0" "" "" "" ""
"00105754" "" "" "" "1" "" "02109" "{PMID:Liskova 2013:23387428}" "" "M" "" "Czech Republic" "" "0" "" "" "" ""
"00105755" "" "" "" "1" "" "02109" "" "Updated from Lab-ID: NAN2018#09" "M" "" "France" "" "0" "" "" "" ""
"00105756" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105757" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105758" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105759" "" "" "" "1" "" "00091" "{PMID:Schimpf 2008:17722006}" "" "" "" "" "" "0" "" "" "" ""
"00105760" "" "" "" "1" "" "02109" "" "" "M" "" "Italy" "" "0" "" "" "" ""
"00105761" "" "" "" "1" "" "02109" "" "" "M" "" "Portugal" "" "0" "" "" "" ""
"00105762" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105763" "" "" "" "1" "" "02109" "" "" "F" "" "Portugal" "" "0" "" "" "" ""
"00105764" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105765" "" "" "" "1" "" "02109" "" "" "M" "" "France" "" "0" "" "" "" ""
"00105766" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105767" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105768" "" "" "" "1" "" "02109" "" "" "F" "" "France" "" "0" "" "" "" ""
"00105769" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105770" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105771" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105772" "" "" "" "1" "" "01536" "Robinson RL, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105773" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105774" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105775" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105776" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105777" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105778" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105779" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105780" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105781" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105782" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105783" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105784" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105785" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105786" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105787" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105788" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105789" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105790" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105791" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105792" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105793" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105794" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105795" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105796" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105797" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105798" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105799" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105800" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105801" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105802" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105803" "" "" "" "1" "" "01536" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105804" "" "" "" "1" "" "01536" "Simmonds JH, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105805" "" "" "" "1" "" "01536" "Simmonds JH, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105806" "" "" "" "1" "" "01536" "Simmonds JH, Charlton RS (unpublished)" "" "" "" "" "" "0" "" "" "" ""
"00105807" "" "" "" "1" "" "02111" "" "" "F" "" "United States" "" "0" "" "" "European" ""
"00105808" "" "" "" "1" "" "02111" "" "" "M" "" "" "" "0" "" "" "" ""
"00105809" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "" "" "0" "" "" "" ""
"00105810" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "Czech Republic" "" "0" "" "" "" ""
"00105811" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105812" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105813" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105814" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "Czech Republic" "" "0" "" "" "" ""
"00105815" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105816" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105817" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00105818" "" "" "" "1" "" "02112" "{PMID:Liskova 2016:27860320}" "" "" "" "Czech Republic" "" "0" "" "" "" ""
"00105819" "" "" "" "1" "" "00091" "{PMID:Bolognini 2017:28245802}" "" "" "" "" "" "0" "" "" "" ""
"00150181" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5176"
"00151830" "" "" "" "1" "" "00006" "{PMID:Tingaud-Sequeira 2017:27890673}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Sweden" "" "0" "" "" "" "27890673-FamPatII1"
"00164531" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164532" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164533" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164534" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164535" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164536" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164537" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164538" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164539" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164540" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164541" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164542" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164543" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164544" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164545" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164546" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164547" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164548" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164549" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164550" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164551" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164552" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164553" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164554" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164555" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#1" "M" "" "France" "" "0" "" "" "" ""
"00164556" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164557" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "no" "(France)" "" "0" "" "" "" ""
"00164558" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164559" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164560" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164561" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164562" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164563" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164564" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164565" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164566" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164567" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164568" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164569" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164570" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164571" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164572" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164573" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164574" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164575" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164576" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164577" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164578" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164579" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164580" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164581" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164582" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164583" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164584" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164585" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164586" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164587" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164588" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164589" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164590" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164591" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164592" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164593" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164594" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#12" "M" "" "France" "" "0" "" "" "" ""
"00164595" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164596" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164597" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164598" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164599" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164600" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164601" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164602" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164603" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#15" "F" "" "France" "" "0" "" "" "" ""
"00164604" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#13" "M" "" "France" "" "0" "" "" "" ""
"00164605" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#8" "M" "" "France" "" "0" "" "" "" ""
"00164606" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164607" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164608" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164609" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164610" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164611" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164612" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "F" "" "France" "" "0" "" "" "" ""
"00164613" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164614" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164615" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00164616" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#10" "F" "" "France" "" "0" "" "" "" ""
"00164617" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "Updated from Lab-ID: ANG2013#9" "F" "" "France" "" "0" "" "" "" ""
"00164618" "" "" "" "1" "" "02411" "Le Roux 2019, submitted" "" "M" "" "France" "" "0" "" "" "" ""
"00180377" "" "" "" "4" "" "02564" "{PMID:Ahmad 2015:26194196}" "" "F" "no" "(Australia)" "70y" "0" "" "" "" "II.1 II.4 II.9 II.11"
"00180889" "" "" "" "4" "" "02564" "{PMID:Ahmad 2015:26194196}" "" "-" "no" "(Australia)" "70y" "0" "" "" "" "II.5 II.7 II.15 II.20"
"00180915" "" "" "" "8" "" "02564" "{PMID:Biamino 2016:26620927}" "4-generation family, 8 affected (6F, 2M), PatII2" "F" "no" "" "72y" "0" "" "" "" "26620927-PatII2"
"00180916" "" "" "00180915" "1" "" "02564" "{PMID:Biamino 2016:26620927}" "" "M" "no" "" "70y" "0" "" "" "" "II.3"
"00180917" "" "" "00180915" "1" "" "02564" "{PMID:Biamino 2016:26620927}" "" "M" "no" "" "38y" "0" "" "" "" "III.1"
"00180918" "" "" "00180915" "1" "" "02564" "{PMID:Biamino 2016:26620927}" "" "F" "no" "" "39y" "0" "" "" "" "III.4"
"00180919" "" "" "00180915" "1" "" "02564" "{PMID:Biamino 2016:26620927}" "" "F" "no" "" "40y" "0" "" "" "" "III.5"
"00180920" "" "" "" "1" "" "02564" "{PMID:Biamino 2016:26620927}" "" "F" "no" "" "48y" "0" "" "" "" "III.6"
"00180921" "" "" "00180915" "1" "" "02564" "{PMID:Biamino 2016:26620927}" "" "F" "no" "" "09y" "0" "" "" "" "IV.2"
"00180922" "" "" "" "6" "" "02564" "{PMID:Zhang 2014:25374051}" "3-generation family, 6 affected (5F, 1M), index: III.2" "F" "no" "(China)" "35y" "0" "" "" "" "III.2"
"00180923" "" "" "" "1" "" "02564" "{PMID:Hayashi 2017:28668999}" "" "F" "no" "(Japan)" "17y" "0" "" "" "" "II.2"
"00180924" "" "" "" "1" "" "02564" "{PMID:Carelli 2015:25820230}" "" "M" "no" "(Italy)" "72y" "0" "" "" "" "III.7"
"00180925" "" "" "" "1" "" "02564" "{PMID:Carelli 2015:25820230}" "" "F" "no" "(Italy)" "74y" "0" "" "" "" "III.11"
"00180926" "" "" "" "1" "" "02564" "{PMID:Carelli 2015:25820230}" "" "M" "no" "(Italy)" "70y" "0" "" "" "" "III.1F2"
"00180927" "" "" "" "1" "" "02564" "{PMID:Cohen 2016:27265430 }" "" "M" "yes" "" "07y" "0" "" "" "" "II.1"
"00180928" "" "" "" "1" "" "02564" "{PMID:Gaier 2017:28848318}" "" "?" "?" "" "" "0" "" "" "" ""
"00180929" "" "" "" "1" "" "02564" "{PMID:Gaier 2017:28848318}" "" "?" "?" "" "" "0" "" "" "" ""
"00180930" "" "" "" "1" "" "02564" "{PMID:Gaier 2017:28848318}" "" "-" "?" "" "" "0" "" "" "" ""
"00180931" "" "" "" "1" "" "02564" "{PMID:Gaier 2017:28848318}" "" "-" "?" "" "" "0" "" "" "" ""
"00180932" "" "" "" "1" "" "02564" "{PMID:Carelli 2015:25146916}" "" "F" "no" "" "43y" "0" "" "" "" "III.4"
"00180933" "" "" "" "1" "" "02564" "{PMID:Carelli 2015:25146916}" "" "M" "no" "(Italy)" "15y" "0" "" "" "" "IV.4"
"00180934" "" "" "" "3" "" "02564" "{PMID:Bonifert 2014:24970096}" "" "-" "no" "" "" "0" "" "" "" "OAK587II.1.II.2.II.3"
"00180946" "" "" "" "27" "" "02564" "{PMID:Pretegiani 2017:29111013}" "7 families, 27 probands, 2 asymptomatic carriers" "?" "no" "Italy" "" "0" "" "" "" "M1"
"00180947" "" "" "" "1" "" "02564" "{PMID:Pretegiani 2017:29111013}" "1 family, 1 proband, 2 asymptomatic carriers" "F" "no" "Italy" "54y" "0" "" "" "" "M2"
"00180948" "" "" "" "5" "" "02564" "{PMID:Pretegiani 2017:29111013}" "1 family, 5 probands, 0 asymptomatic carrier" "-" "no" "Italy" "" "0" "" "" "" "H1"
"00180950" "" "" "" "3" "" "02564" "{PMID:Pretegiani 2017:29111013}" "2 families, 3 probands, 0 asymptomatic carrier" "-" "no" "Italy" "" "0" "" "" "" "H3"
"00180951" "" "" "" "1" "" "02564" "{PMID:Rubegni 2017:28442211}" "" "F" "no" "(Italy)" "11y" "0" "" "" "" "1"
"00180952" "" "" "" "1" "" "02564" "{PMID:Rubegni 2017:28442211}" "" "M" "no" "(Italy)" "07y" "0" "" "" "" "2"
"00180953" "" "" "" "2" "" "02564" "{PMID:Yu-Wai-Man 2014:25012222}" "" "-" "no" "(Norway)" "" "0" "" "" "" "1"
"00180954" "" "" "" "1" "" "02564" "{PMID:Yu-Wai-Man 2016:27656661 }" "" "F" "no" "" "60y" "0" "" "" "" "A"
"00180955" "" "" "" "1" "" "02564" "{PMID:Yu-Wai-Man 2016:27656661 }" "" "M" "no" "" "56y" "0" "" "" "" "B"
"00180956" "" "" "" "1" "" "02564" "{PMID:Yu-Wai-Man 2016:27656661 }" "" "F" "no" "" "39y" "0" "" "" "" "C"
"00180957" "" "" "" "2" "" "02564" "{PMID:Spiegel 2016:26561570}" "" "F" "no" "" "" "0" "" "" "" ""
"00180958" "" "" "" "17" "" "02564" "{PMID:Ścieżyńska 2017:28841713}" "2 families A(n=11) and B(n=6), 2 probands" "-" "no" "" "" "0" "" "" "" ""
"00180962" "" "" "" "6" "" "02564" "{PMID:Li 2018:29952689}" "4-generation family, 6 probands, 7 unaffected" "M" "no" "" "" "0" "" "" "" "F1-III:5"
"00180963" "" "" "" "5" "" "02564" "{PMID:Li 2018:29952689}" "3-generation family, 5 probands, 5 unaffected" "F" "no" "" "" "0" "" "" "" "F2-III:1"
"00180964" "" "" "" "6" "" "02564" "{PMID:Li 2018:29952689}" "4-generation family, 6 probands, 8 unaffected" "M" "no" "" "" "0" "" "" "" "F3-IV:1"
"00180965" "" "" "" "2" "" "02564" "{PMID:Li 2018:29952689}" "3-generation family, 2 probands, 4 unaffected" "F" "no" "" "" "0" "" "" "" "F4-II:2"
"00180966" "" "" "" "2" "" "02564" "{PMID:Li 2018:29952689}" "2-generation family, 2 probands, 1 unaffected" "M" "no" "" "" "0" "" "" "" "F5-II:1"
"00180967" "" "" "" "3" "" "02564" "{PMID:Li 2018:29952689}" "3-generation family, 3 probands, 2 unaffected" "M" "no" "" "" "0" "" "" "" "F6-III:1"
"00180968" "" "" "" "3" "" "02564" "{PMID:Li 2018:29952689}" "3-generation family, 3 probands, 7 unaffected" "M" "no" "" "" "0" "" "" "" "F7-III:1"
"00180969" "" "" "" "1" "" "02564" "{PMID:Bolognini 2017:28245802}" "Proband of family 1/2" "?" "no" "(Switzerland)" "10y" "0" "" "" "" "1"
"00180970" "" "" "" "1" "" "02564" "{PMID:Bolognini 2017:28245802}" "Proband of family 2/2" "?" "no" "" "" "0" "" "" "" "2"
"00180971" "" "" "" "1" "" "02564" "{PMID:Bonneau 2015:25012220}" "Case 1/4" "M" "no" "" "" "0" "" "" "" "1"
"00180972" "" "" "" "1" "" "02564" "{PMID:Bonneau 2015:25012220}" "Case 2/4" "F" "no" "" "11y" "0" "" "" "" "2"
"00181016" "" "" "" "1" "" "02564" "{PMID:Bonneau 2015:25012220}" "" "F" "no" "" "06y" "0" "" "" "" "3"
"00181019" "" "" "" "3" "" "02564" "{PMID:Lynch 2017:28955727}" "" "-" "" "" "" "0" "" "" "" ""
"00181020" "" "" "" "3" "" "02564" "{PMID:Kamakari 2014:24883014}" "" "-" "no" "(Greece)" "" "0" "" "" "" "1"
"00181021" "" "" "" "2" "" "02564" "{PMID:Kamakari 2014:24883014}" "" "-" "no" "(Greece)" "" "0" "" "" "" "2"
"00181022" "" "" "" "4" "" "02564" "{PMID:Kamakari 2014:24883014}" "" "-" "no" "(Greece)" "" "0" "" "" "" "3"
"00181023" "" "" "" "2" "" "02564" "{PMID:Kamakari 2014:24883014}" "" "-" "no" "(Greece)" "" "0" "" "" "" "4"
"00181024" "" "" "" "1" "" "02564" "{PMID:Lida 2016:26854526}" "" "M" "no" "(Japan)" "" "0" "" "" "" ""
"00181026" "" "" "" "1" "" "02564" "{PMID:Lee 2016:27150940}" "" "?" "no" "(Korea)" "10y" "0" "" "" "" ""
"00181084" "" "" "" "18" "" "02564" "{PMID:Gallus 2010: 20157369}, {PMID:Pretegiania 2017:29111013}" "5-generation family, 18 affected members, proband V-3" "M" "no" "Italy" "09y" "0" "" "" "" "V-3"
"00181095" "" "" "" "1" "" "02564" "{PMID:Pretegiani 2017:29111013}" "1 family, 1 proband, 1 asymptomatic carrier" "M" "no" "Italy" "45y" "0" "" "" "" "H4"
"00181097" "" "" "" "2" "" "02564" "{PMID:Li 2018:29952689}" "2-generation family, 2 probands, 1 unaffected" "M" "no" "" "" "0" "" "" "" "F8-II:1"
"00181398" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181399" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181400" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181401" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181402" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181403" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181404" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181405" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181406" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181407" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181408" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181409" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181410" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181411" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181412" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181413" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181414" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181415" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181416" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181417" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181418" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181419" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2014 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181420" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181421" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181422" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181423" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181424" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181425" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181426" "" "" "" "1" "" "00091" "Amati-Bonneau P, 2017 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181427" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181428" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181429" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181430" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181431" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181432" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181433" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181434" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181435" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181436" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181437" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181438" "" "" "" "1" "" "00091" "Amati-Bonneau P, 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181439" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181440" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181441" "" "" "" "1" "" "00091" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181442" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181443" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181444" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181445" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181446" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181447" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181448" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181449" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181450" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181451" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181452" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181453" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181454" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181455" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181456" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2014 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181457" "" "" "" "1" "" "00091" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "(France)" "" "0" "" "" "" ""
"00181458" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "076012"
"00181459" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A238"
"00181460" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "076006"
"00181461" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A301"
"00181462" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A537"
"00181463" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "076018"
"00181464" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A283"
"00181465" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A10"
"00181466" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A706"
"00181467" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "076019"
"00181468" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A134"
"00181469" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A182"
"00181470" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A333"
"00181471" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A657"
"00181472" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "076009"
"00181473" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A521"
"00181474" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A587"
"00181475" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A320"
"00181476" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A564"
"00181477" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A434"
"00181478" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "A443"
"00181479" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A210"
"00181480" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A519"
"00181481" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "F" "" "" "" "0" "" "" "" "076015"
"00181482" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "076020"
"00181483" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A608"
"00181484" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A339"
"00181485" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A676"
"00181486" "" "" "" "1" "" "02564" "{PMID:Chen 2014:25205859}" "" "M" "" "" "" "0" "" "" "" "A205"
"00181487" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 1 proband, 4 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2934"
"00181488" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 1 proband, 3 unaffected" "F" "" "(China)" "" "0" "" "" "" "Le2643"
"00181489" "" "" "" "4" "" "02564" "{PMID:Li 2017:28081242}" "3-generation family, 4 probands, 9 unaffected" "M" "" "(China)" "" "0" "" "" "" "QT1319"
"00181490" "" "" "" "6" "" "02564" "{PMID:Li 2017:28081242}" "4-generation family, 6 probands, 13 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2973"
"00181491" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 1 proband, 2 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2379"
"00181492" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2_generation family, 1 proband, 3 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2883"
"00181493" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 1 proband, 5 unaffected" "F" "" "(China)" "" "0" "" "" "" "QT1657"
"00181494" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 1 proband, 3 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2637"
"00181495" "" "" "" "1" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 1 proband, 2 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2904"
"00181496" "" "" "" "2" "" "02564" "{PMID:Li 2017:28081242}" "2-generation family, 2 probands, 3 unaffected" "M" "" "(China)" "" "0" "" "" "" "LE2799"
"00181497" "" "" "" "2" "" "02564" "{PMID:Li 2017:28081242}" "3-generation family, 2 probands, 7 unaffected" "M" "" "(China)" "" "0" "" "" "" "Le2198"
"00181498" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 2 unaffected, 1 unknown" "M" "" "" "" "0" "" "" "" "P1 (II-2)"
"00181499" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 2 unaffected, 1 unknown" "M" "" "" "" "0" "" "" "" "P1 (I-1)"
"00181500" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 2 unaffected, 1 unknown" "F" "" "" "" "0" "" "" "" "P1 (I-2)"
"00181501" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 2 unaffected" "F" "" "" "" "0" "" "" "" "P2 (II-1)"
"00181502" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 2 unaffected" "F" "" "" "" "0" "" "" "" "P2 (I-2)"
"00181503" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 3 unaffected" "F" "" "" "" "0" "" "" "" "P3 (II-1)"
"00181504" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 3 unaffected" "M" "" "" "" "0" "" "" "" "P3 (I-1)"
"00181505" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 3 unaffected" "F" "" "" "" "0" "" "" "" "P3 (I-2)"
"00181506" "" "" "" "1" "" "02564" "{PMID:Nasca 2017:28494813}" "2-generation family, 1 proband, 3 unaffected" "M" "" "" "" "0" "" "" "" "P3 (II-2)"
"00218053" "" "" "" "1" "" "00091" "Le Roux 2019, submitted" "" "M" "?" "(France)" "" "0" "" "" "" "ANG19#0115"
"00230995" "" "" "" "1" "" "00091" "{PMID:Zerem 2019:30972688}" "" "F" "no" "" "" "0" "" "" "" ""
"00230996" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00238975" "" "" "" "1" "" "00091" "" "" "" "" "(France)" "" "0" "" "" "" ""
"00240094" "" "" "" "1" "" "00091" "" "" "M" "no" "(France)" "" "0" "" "" "" ""
"00240354" "" "" "" "1" "" "00091" "" "" "M" "" "(United Arab Emirates)" "" "0" "" "" "" ""
"00240359" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00240360" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00265520" "" "" "" "1" "" "00091" "" "" "F" "" "" "" "0" "" "" "" ""
"00266378" "" "" "" "1" "" "00091" "" "" "M" "no" "(France)" "" "0" "" "" "" ""
"00269319" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00274167" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "" "F" "" "Poland" "" "0" "" "" "" "Pat33"
"00275690" "" "" "" "1" "" "00091" "" "" "F" "no" "(France)" "" "0" "" "" "" ""
"00275873" "" "" "" "1" "" "03833" "{PMID:Eising 2018:29463886}" "analysis 19 individuals with childhood apraxia of speech" "F" "" "" "" "0" "" "" "" "Pat13"
"00287160" "" "" "" "1" "" "00091" "" "" "F" "no" "France" "" "0" "" "" "" ""
"00287161" "" "" "" "1" "" "00091" "" "" "M" "no" "France" "" "0" "" "" "" ""
"00287162" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00287163" "" "" "" "1" "" "00091" "" "" "M" "?" "France" "" "0" "" "" "" ""
"00289284" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00293306" "" "" "" "83" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293307" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293308" "" "" "" "154" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293309" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293310" "" "" "" "99" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295587" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00295593" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00295911" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00295930" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00295983" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00296395" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00296846" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00296854" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00296856" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00299426" "" "" "" "1" "" "00091" "" "" "F" "no" "(France)" "" "0" "" "" "" ""
"00299427" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00299428" "" "" "" "1" "" "00091" "" "" "M" "?" "(France)" "" "0" "" "" "" ""
"00299429" "" "" "" "1" "" "00091" "" "" "F" "?" "(France)" "" "0" "" "" "" ""
"00301050" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00301051" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00301090" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" ""
"00301393" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" ""
"00306247" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00307273" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00307274" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00307275" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00307700" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00311184" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00317982" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "171284"
"00324496" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00324497" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00324515" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00326818" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00326936" "" "" "" "1" "" "00091" "" "" "M" "?" "(France)" "" "0" "" "" "" ""
"00326938" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00327503" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00328355" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690918"
"00328381" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "M" "" "China" "" "0" "" "" "" "690921"
"00332549" "" "" "" "1" "" "00006" "{PMID:Comander 2017:28981474}" "" "F" "" "United States" "" "0" "" "" "" "Pat42"
"00333768" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "962"
"00333769" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "963"
"00333770" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "964"
"00333771" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "965"
"00333772" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "966"
"00333773" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "967"
"00333774" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "968"
"00333775" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "969"
"00334508" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00335131" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "9851"
"00359457" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00359493" "" "" "" "1" "" "04026" "" "" "" "?" "China" "" "" "" "" "Asian" ""
"00359494" "" "" "" "1" "" "04026" "" "" "M" "?" "China" "" "" "" "" "Asian" ""
"00359503" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359504" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359528" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "Asian" ""
"00359529" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "Asian" ""
"00359530" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "" ""
"00359531" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "Asian" ""
"00359532" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "" ""
"00359533" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "" ""
"00359534" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "" ""
"00359535" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359536" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359537" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359538" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "" ""
"00359539" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "Asian" ""
"00359540" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359543" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "Asian" ""
"00359544" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "Asian" ""
"00359571" "" "" "" "1" "" "04026" "" "" "F" "" "China" "" "" "" "" "Asian" ""
"00359572" "" "" "" "1" "" "04026" "" "" "M" "" "China" "" "" "" "" "" ""
"00363365" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM864"
"00363387" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM763"
"00363814" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G493"
"00363815" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G566"
"00363816" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "F" "" "China" "" "0" "" "" "" "G577"
"00363890" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00372579" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00373657" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "" "" "" "" "" "" ""
"00373660" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373661" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373662" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373663" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373664" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373665" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373666" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373667" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373668" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373669" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373670" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373671" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373672" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373673" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373674" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373676" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373677" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373678" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373679" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373680" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373681" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373682" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373683" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373684" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373685" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373686" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373687" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373688" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373689" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373690" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
"00373691" "" "" "" "1" "" "04076" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germany" "" "0" "" "" "" ""
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"00415044" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "" "" "0" "" "" "" ""
"00418509" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam6"
"00419567" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20106"
"00428077" "" "" "" "1" "" "04076" "" "" "" "" "" "" "" "" "" "" ""
"00428112" "" "" "" "1" "" "04076" "" "" "?" "" "" "" "" "" "" "" ""
"00431833" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y10m" "" "" "" "Europe" "SIDS012"
"00431874" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y06m" "" "" "" "Europe" "SIDS056"
"00435562" "" "" "" "1" "" "00006" "{PMID:Rots 2023:37196654}" "2-generation family, unaffected non-carrier parents, no affected relatives" "M" "" "" "" "0" "" "" "" "Pat36"
"00436738" "" "" "" "1" "" "03780" "" "" "M" "no" "Italy" "" "0" "" "" "" ""
"00436739" "" "" "" "1" "" "03780" "" "" "F" "no" "(Italy)" "" "" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1077
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## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00038, 00142, 00168, 00198, 00485, 01277, 01477, 02087, 02412, 02592, 03015, 04214, 04267, 04293, 05289, 05290, 05611, 05684
## Count = 964
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000041535" "00142" "00054871" "01479" "Unknown" "" "ataxia, neuropathy, cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA" "cerebellar ataxia" "" "" ""
"0000041540" "03015" "00054875" "01479" "Unknown" "" "pure hereditary spastic paraplegia" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA" "hereditary spastic paraplegia" "" "" ""
"0000060409" "04293" "00080840" "01758" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000081896" "04293" "00103965" "01164" "Unknown" "" "optic atrophy (according to referring physician no signs of a neuropathy, optic atrophy only phenotype)" "" "" "" "" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000082910" "00485" "00105018" "01244" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083320" "04293" "00105424" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083321" "04293" "00105425" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083322" "04293" "00105426" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083323" "04293" "00105427" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083324" "04293" "00105428" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083325" "04293" "00105429" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083326" "04293" "00105430" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083327" "04293" "00105431" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083328" "04293" "00105432" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083329" "04293" "00105433" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083330" "04293" "00105434" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083331" "04293" "00105435" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083332" "04293" "00105436" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083333" "04293" "00105437" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083334" "04293" "00105438" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083335" "04293" "00105439" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083336" "04293" "00105440" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083337" "04293" "00105441" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083338" "04293" "00105442" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083339" "04293" "00105443" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083340" "04293" "00105444" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083341" "04293" "00105445" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083342" "04293" "00105446" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083343" "04293" "00105447" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083344" "04293" "00105448" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083345" "04293" "00105449" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083346" "04293" "00105450" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083347" "04293" "00105451" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083348" "04293" "00105452" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083349" "04293" "00105453" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083350" "04293" "00105454" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083351" "04293" "00105455" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083352" "04293" "00105456" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083353" "04293" "00105457" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083354" "04293" "00105458" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083355" "04293" "00105459" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083356" "04293" "00105460" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083357" "04293" "00105461" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083358" "04293" "00105462" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083359" "04293" "00105463" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083360" "00198" "00105464" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083361" "00198" "00105465" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083362" "00198" "00105466" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083363" "00198" "00105467" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083364" "00198" "00105468" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083365" "00198" "00105469" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083366" "00198" "00105470" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083367" "00198" "00105471" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083368" "00198" "00105472" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083369" "00198" "00105473" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083370" "00198" "00105474" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083371" "00198" "00105475" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083372" "00198" "00105476" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083373" "00198" "00105477" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083374" "00198" "00105478" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083375" "00198" "00105479" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083376" "00198" "00105480" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083377" "00198" "00105481" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083378" "00198" "00105482" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083379" "00198" "00105483" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083380" "00198" "00105484" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083381" "00198" "00105485" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083382" "00198" "00105486" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083383" "00198" "00105487" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083384" "00198" "00105488" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083385" "00198" "00105489" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083386" "00198" "00105490" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083387" "00198" "00105491" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083388" "00198" "00105492" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083389" "00198" "00105493" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083390" "00198" "00105494" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083391" "00198" "00105495" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083392" "04293" "00105496" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083393" "04293" "00105497" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083394" "04293" "00105498" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083395" "04293" "00105499" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083396" "04293" "00105500" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083397" "04293" "00105501" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083398" "04293" "00105502" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083399" "04293" "00105503" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083400" "04293" "00105504" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083401" "04293" "00105505" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083402" "04293" "00105506" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083403" "04293" "00105507" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083404" "04293" "00105508" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083405" "04293" "00105509" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083406" "04293" "00105510" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083407" "04293" "00105511" "00091" "Unknown" "" "autosomal dominant optic atrophy; this patient most severely affected family member" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083408" "04293" "00105512" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083409" "04293" "00105513" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083410" "04293" "00105514" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083411" "04293" "00105515" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083412" "04293" "00105516" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083413" "04293" "00105517" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083414" "04293" "00105518" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083415" "04293" "00105519" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083416" "04293" "00105520" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083417" "04293" "00105521" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083418" "04293" "00105522" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083419" "04293" "00105523" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083420" "04293" "00105524" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083421" "04293" "00105525" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083422" "04293" "00105526" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083423" "04293" "00105527" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083424" "04293" "00105528" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083425" "04293" "00105529" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083426" "04293" "00105530" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083427" "04293" "00105531" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083428" "04293" "00105532" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083429" "04293" "00105533" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083430" "04293" "00105534" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083431" "00198" "00105535" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083432" "00198" "00105536" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083433" "04293" "00105537" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083434" "04293" "00105538" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083435" "04293" "00105539" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083436" "04293" "00105540" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083437" "04293" "00105541" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083438" "04293" "00105542" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083439" "04293" "00105543" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083440" "04293" "00105544" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083441" "04293" "00105545" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083442" "04293" "00105546" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083443" "04293" "00105547" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083444" "04293" "00105548" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083445" "04293" "00105549" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083446" "04293" "00105550" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083447" "04293" "00105551" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083448" "00198" "00105552" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083449" "00198" "00105553" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083450" "00198" "00105554" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083451" "00198" "00105555" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083452" "00198" "00105556" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083453" "00198" "00105557" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083454" "00198" "00105558" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083455" "04293" "00105559" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083456" "04293" "00105560" "00091" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083457" "04293" "00105561" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083458" "04293" "00105562" "00091" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083459" "04293" "00105563" "00091" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083460" "04293" "00105564" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083461" "00198" "00105565" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083462" "00198" "00105566" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083463" "00198" "00105567" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083464" "00198" "00105568" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083465" "00198" "00105569" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083466" "00198" "00105570" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083467" "04293" "00105571" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083468" "04293" "00105572" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083469" "04293" "00105573" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083470" "04293" "00105574" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083471" "04293" "00105575" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083472" "04293" "00105576" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083473" "04293" "00105577" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083474" "04293" "00105578" "00091" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083475" "04293" "00105579" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083476" "04293" "00105580" "00091" "Unknown" "" "autosomal dominant optic atrophy; ataxia, neuropathy" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083477" "04293" "00105581" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083478" "04293" "00105582" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083479" "04293" "00105583" "00091" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083480" "04293" "00105584" "00091" "Isolated (sporadic)" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083481" "04293" "00105585" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083482" "04293" "00105586" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083483" "04293" "00105587" "02104" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083484" "04293" "00105588" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083485" "04293" "00105589" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083486" "04293" "00105590" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083487" "04293" "00105591" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083488" "04293" "00105592" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083489" "04293" "00105593" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083490" "04293" "00105594" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083491" "04293" "00105595" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083492" "04293" "00105596" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083493" "04293" "00105597" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083494" "04293" "00105598" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083495" "04293" "00105599" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083496" "04293" "00105600" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083497" "04293" "00105601" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083498" "04293" "00105602" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083499" "04293" "00105603" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083500" "04293" "00105604" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083501" "04293" "00105605" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083502" "04293" "00105606" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083503" "04293" "00105607" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083504" "04293" "00105608" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083505" "04293" "00105609" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083506" "04293" "00105610" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083507" "04293" "00105611" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083508" "04293" "00105612" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083509" "04293" "00105613" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083510" "04293" "00105614" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083511" "04293" "00105615" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083512" "04293" "00105616" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083513" "04293" "00105617" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083514" "04293" "00105618" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083515" "04293" "00105619" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083516" "04293" "00105620" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083517" "04293" "00105621" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083518" "04293" "00105622" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083519" "04293" "00105623" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083520" "04293" "00105624" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083521" "04293" "00105625" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083522" "04293" "00105626" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083523" "04293" "00105627" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083524" "04293" "00105628" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083525" "04293" "00105629" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083526" "04293" "00105630" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083527" "04293" "00105631" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083528" "04293" "00105632" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083529" "04293" "00105633" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083530" "04293" "00105634" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083531" "04293" "00105635" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083532" "04293" "00105636" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083533" "04293" "00105637" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083534" "04293" "00105638" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083535" "04293" "00105639" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083536" "04293" "00105640" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083537" "04293" "00105641" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083538" "04293" "00105642" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083539" "04293" "00105643" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083540" "04293" "00105644" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083541" "04293" "00105645" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083542" "04293" "00105646" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083543" "04293" "00105647" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083544" "04293" "00105648" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083545" "04293" "00105649" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083546" "04293" "00105650" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083547" "04293" "00105651" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083548" "04293" "00105652" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083549" "04293" "00105653" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083550" "04293" "00105654" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083551" "04293" "00105655" "02105" "Familial" "" "autosomal dominant optic atrophy; peripheral neuropathy, ophtalmoplegia" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083552" "04293" "00105656" "00091" "Familial" "" "autosomal dominant optic atrophy; partial, spontaneous visual recovery" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083553" "04293" "00105657" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083554" "04293" "00105658" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083555" "04293" "00105659" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083556" "04293" "00105660" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083557" "04293" "00105661" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083558" "04293" "00105662" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083559" "04293" "00105663" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083560" "04293" "00105664" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083561" "04293" "00105665" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083562" "04293" "00105666" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083563" "04293" "00105667" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083564" "04293" "00105668" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083565" "04293" "00105669" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083566" "04293" "00105670" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083567" "04293" "00105671" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083568" "04293" "00105672" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083569" "04293" "00105673" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083570" "04293" "00105674" "00091" "Unknown" "" "autosomal dominant optic atrophy; ataxia, neuropathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083571" "00198" "00105675" "00091" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083572" "04293" "00105676" "00091" "Familial" "" "autosomal dominant optic atrophy; ataxia, myopayhy, neuropathy, spasticity" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083573" "04293" "00105677" "00091" "Unknown" "" "autosomal dominant optic atrophy; epilepsy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083574" "04293" "00105678" "00091" "Unknown" "" "autosomal dominant optic atrophy; ataxia, cerebellar ataxia, areflexia, pes cavus" "" "" "hearing loss;sensorineural" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083575" "04293" "00105679" "00091" "Familial" "" "autosomal dominant optic atrophy; ataxia, myopayhy, neuropathy, progressive external ophthalmoplegia, dementia, migraine, epilepsy" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083576" "04293" "00105680" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083577" "04293" "00105681" "00091" "Familial" "" "autosomal dominant optic atrophy; myopayhy, neuropathy, progressive external ophthalmoplegia" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083578" "04293" "00105682" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083579" "04293" "00105683" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083580" "04293" "00105684" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083581" "04293" "00105685" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083582" "04293" "00105686" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083583" "04293" "00105687" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083584" "04293" "00105688" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083585" "04293" "00105689" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083586" "04293" "00105690" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083587" "04293" "00105691" "00091" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083588" "04293" "00105692" "00091" "Familial, autosomal dominant" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083589" "04293" "00105693" "01536" "Isolated (sporadic)" "" "autosomal dominant optic atrophy; peripheral neuropathy" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083590" "04293" "00105694" "01536" "Familial" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083591" "04293" "00105695" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083592" "04293" "00105696" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083593" "04293" "00105697" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083594" "04293" "00105698" "02106" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083595" "04293" "00105699" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083596" "04293" "00105700" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083597" "04293" "00105701" "02108" "Unknown" "46y" "autosomal dominant optic atrophy plus; clinical info spans 41-50y; Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia" "01y-05y" "" "" "" "" "wheelchair bound (disease duration >30y), upper limbs difficulty to write (disease duration >30y)" "" "" "" "" "" "" "" "atrophy" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083598" "04293" "00105702" "02108" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083599" "04293" "00105703" "02108" "Unknown" "46y" "autosomal dominant optic atrophy plus; clinical info spans 41-50y; Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia" "01y-05y" "" "" "" "" "wheelchair bound (disease duration >30y)" "" "" "" "" "" "" "" "atrophy" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083600" "04293" "00105704" "02108" "Unknown" "48y" "autosomal dominant optic atrophy plus; clinical info spans 41-50y; Ataxia, Cerebellar syndrome, Dysphagia, Ophthalmoplegia, Optic atrophy, Ptosis, Spastic paraplegia; no muscle/nerve biopsy performed" "01y-05y" "" "" "" "" "wheelchair bound (disease duration >30y)" "" "" "" "" "" "" "" "atrophy" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083601" "04293" "00105705" "02108" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083602" "04293" "00105706" "02108" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083603" "04293" "00105707" "02108" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083604" "04293" "00105708" "02108" "Unknown" "46y" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083605" "04293" "00105709" "02109" "Unknown" "48y" "autosomal dominant optic atrophy; clinical info relatives available; Ophthalmoplegia, Ptosis; vision loss evolution unknown; muscle biopsy cox-fibers, no nerve biopsy" "" "" "" "" "loss" "" "" "" "" "" "" "" "" "no" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS RNFL two or more;OS GCL ?" "" "" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083606" "04293" "00105710" "02109" "Unknown" "15y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; vision loss evolution unknown; no muscle/nerve biopsy performed;" "11y-20y" "" "" "" "loss" "" "" "" "" "" "" "" "" "no" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD 0.2 LogMAR;OS 0.2 LogMAR" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083607" "04293" "00105711" "02109" "Unknown" "39y" "autosomal dominant optic atrophy plus; clinical info spans <11y, clinical info relatives available; Ataxia, Hearing loss, Multiple sclerosis-like illness, Peripheral neuropathy, Ptosis; vision loss evolution unknown; pure tone audiometry severe loss (loss of 61-90dB), hearing loss onset 31-40y; auditory brainstem responses n/a; otoacoustic emission n/a; ENMG sensori-motor neuropathy" "31y-40y" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "white matter abnormalities (HP:002500)" "" "OD Humphrey;OD paracentral;OS Humphrey;OS paracentral" "OD 0.8 LogMAR;OS 0.8 LogMAR" "" "OD dyschromatopsia;OS dyschromatopsia" "OPA+" "optic atrophy" "" "" ""
"0000083608" "04293" "00105712" "02109" "Unknown" "39y" "autosomal dominant optic atrophy plus; clinical info spans 11-20y, clinical info relatives available; Hearing loss, Ophthalmoplegia, Peripheral neuropathy, Ptosis; vision loss evolution unknown; pure tone audiometry mild loss (loss of 21-40dB), hearing los onset 31-40y; ENMG sensori-motor neuropathy" "21y-30y" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "OD Humphrey;OD paracentral;OS Humphrey;OS paracentral" "OD 0.6 LogMAR;OS 0.6 LogMAR;OD severe;OS severe" "OD diffuse;OS diffuse" "OD protanopia;OS protanopia" "OPA+" "optic atrophy" "" "" ""
"0000083609" "04293" "00105713" "02109" "Unknown" "08y" "autosomal dominant optic atrophy plus; clinical info spans <11y, clinical info relatives available; Ataxia, Dysphagia, Intestinal obstruction, Peripheral neuropathy; vision loss evolution unknown; delayed auditory brainstem responses; otoacoustic emission; muscle biopsy ragged-red-fibers, Cox-fibers, lipids accumulation; nerve biopsy not performed" "01y-05y" "" "normal" "" "" "" "" "" "" "" "" "" "" "white matter abnormalities (HP:002500)" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD light perception w/o projection;OS light perception w/o projection" "OD diffuse;OS diffuse" "" "OPA+" "optic atrophy" "tobacco: none;alcohol: none" "" ""
"0000083610" "04293" "00105714" "02109" "Unknown" "3y" "autosomal dominant optic atrophy plus; clinical info spans <11y, clinical info relatives available; Ataxia, Dysphagia, Intestinal obstruction; vision loss evolution unknown; pure tone audiometry normal hearing (loss of 0-20dB); normal auditory brainstem responses; otoacoustic emission; no muscle/nerve biopsy performed" "<1y" "" "normal" "" "" "" "" "" "" "" "" "" "" "no" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "" "OD diffuse;OS diffuse" "" "OPA+" "optic atrophy" "tobacco: none;alcohol: none" "" ""
"0000083611" "04293" "00105715" "02109" "Unknown" "" "autosomal dominant optic atrophy plus; clinical info relatives available; vision loss evolution unknown; pure tone audiometry mild loss (loss of 21-40dB); normal auditory brainstem responses; otoacoustic emission; no muscle/nerve biopsy performed" "" "" "hearing loss" "" "loss" "" "" "" "" "" "" "" "" "no" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD 0.1 LogMAR;OS 0.2 LogMAR" "OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA+" "optic atrophy" "" "" ""
"0000083612" "00198" "00105716" "02109" "Unknown" "" "clinical info relatives available; vision loss evolution unknown; pure tone audiometry normal hearing (loss of 0-20dB); normal auditory brainstem responses; otoacoustic emission; no muscle/nerve biopsy performed" "" "" "normal" "" "" "" "" "" "" "" "" "" "" "no" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD excellent;OS excellent" "OD normal;OS normal" "OD normal;OS normal" "OPA1" "OPA1" "" "" ""
"0000083613" "04293" "00105717" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083614" "04293" "00105718" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083615" "04293" "00105719" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083616" "04293" "00105720" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083617" "04293" "00105721" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083618" "04293" "00105722" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083619" "04293" "00105723" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083620" "04293" "00105724" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083621" "04293" "00105725" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083622" "04293" "00105726" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083623" "04293" "00105727" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083624" "04293" "00105728" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083625" "04293" "00105729" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083626" "04293" "00105730" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083627" "04293" "00105731" "02109" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083628" "04293" "00105732" "02109" "Unknown" "24y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; vision loss evolution unknown; pure tone audiometry n/a; auditory brainstem responses n/a; otoacoustic emission n/a;" "11y-20y" "" "" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "OD diffuse;OS diffuse" "" "OPA-1" "optic atrophy" "" "" ""
"0000083629" "04293" "00105733" "02109" "Unknown" "50y" "autosomal dominant optic atrophy; clinical info spans <11y, no clinical info relatives; Multiple sclerosis-like illness, Neuropathic pain; muscle biopsy lipids accumulation;" "31y-40y" "" "normal" "" "" "" "" "" "" "" "" "" "" "white matter abnormalities (HP:002500)" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Humphrey;OD 0 to -4;OD centrocecal;OS Humphrey;OS 0 to -4;OS central" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083630" "04293" "00105734" "02109" "Unknown" "21y" "autosomal dominant optic atrophy; clinical info spans <11y, no clinical info relatives; vision loss evolution stable" "11y-20y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OD superotemporal;OS Humphrey;OS -4.01 to -12;OS superotemporal" "OD 0.5 LogMAR;OS 0.4 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD peripapillary;OD temporal;OS peripapillary;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083631" "04293" "00105735" "02109" "Unknown" "69y" "autosomal dominant optic atrophy; clinical info spans 11-20y, no clinical info relatives; vision loss evolution stable;" ">50y" "" "" "" "loss" "" "" "" "" "" "" "" "" "normal" "OD RNFL temporal;OS RNFL temporal" "OD Humphrey;OD superotemporal;OS Humphrey;OS superotemporal" "OD 1.3 LogMAR;OS 1.3 LogMAR" "OD diffuse;OS diffuse" "" "OPA-1" "optic atrophy" "" "" ""
"0000083632" "04293" "00105736" "02109" "Unknown" "28y" "autosomal dominant optic atrophy; clinical info spans 11-20y, no clinical info relatives; vision loss worsening (loss of 2 or more decimal lines since diagnosis)" "11y-20y" "" "hearing loss" "" "loss" "" "" "" "" "" "" "" "" "normal" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "OD Humphrey;OD superotemporal;OS Humphrey;OS superotemporal" "OD 0.8 LogMAR;OS 0.8 LogMAR" "OD temporal;OS temporal" "" "OPA+" "optic atrophy" "" "" ""
"0000083633" "04293" "00105737" "02109" "Unknown" "30y" "autosomal dominant optic atrophy; clinical info spans 11-20y, no clinical info relatives; vision loss improvement (gain of 2 or more decimal lines since diagnosis)" "11y-20y" "" "" "" "loss" "" "" "" "" "" "" "" "" "normal" "OD RNFL temporal;OS RNFL temporal" "OD Humphrey;OD superotemporal;OS Humphrey;OS superotemporal" "OD 0.2 LogMAR;OS 0.1 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.8-1;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OD diffuse;OS diffuse" "" "OPA-1" "optic atrophy" "" "" ""
"0000083634" "04293" "00105738" "02109" "Unknown" "12y" "autosomal dominant optic atrophy; asymptomatic, no clinical info relatives; vision loss evolution unknown" "" "" "" "" "loss" "" "" "" "" "" "" "" "" "normal" "" "OD Goldmann;OD normal;OS Goldmann;OS normal" "OD 0.2 LogMAR;OS 0.1 LogMAR" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000083635" "04293" "00105739" "02109" "Unknown" "17y" "autosomal dominant optic atrophy; clinical info spans 11-20y, no clinical info relatives; vision loss evolution unknown" "" "" "" "" "loss" "" "" "" "" "" "" "" "" "normal" "" "OD Goldmann;OD normal;OS Goldmann;OS normal" "OD 0.6 LogMAR;OS 0.5 LogMAR" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083636" "04293" "00105740" "02109" "Unknown" "13y" "autosomal dominant optic atrophy; clinical info spans <11y, no clinical info relatives; vision loss evolution unknown" "01y-05y" "" "" "" "loss" "" "" "" "" "" "" "" "" "normal" "" "OD Goldmann;OD centrocecal;OS Goldmann;OS centrocecal;OS paracentral" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083637" "04293" "00105741" "02109" "Unknown" "35y" "autosomal dominant optic atrophy; clinical info spans <11y; vision loss evolution unknown" "" "" "" "" "loss" "" "" "" "" "" "" "" "" "normal" "" "" "OD 0.8 LogMAR;OS 0.7 LogMAR" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083638" "04293" "00105742" "02109" "Unknown" "55y" "autosomal dominant optic atrophy; clinical info spans 11-20y, no clinical info relatives; Diabetes, High blood pressure; vision loss evolution stable;" "31y-40y" "" "" "" "loss" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OD 0 to -4;OD undefined;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD 1.0 LogMAR;OS 1.0 LogMAR" "OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083639" "04293" "00105743" "02109" "Unknown" "34y" "autosomal dominant optic atrophy; clinical info spans <11y, ? clinical info relatives; visual handicap: stopped driving" "31y-40y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -12.01 to -20;OS undefined" "OD 1.1 LogMAR;OS 1.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OS diffuse" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083640" "04293" "00105744" "02109" "Unknown" "07y" "autosomal dominant optic atrophy; clinical info spans <11y, no clinical info relatives; vision loss evolution stable" "01y-05y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "normal" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Goldmann;OD centrocecal;OS Goldmann;OS centrocecal" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000083641" "04293" "00105745" "02109" "Unknown" "53y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; MR-spectroscopy: Lactate peak; visual handicap: able to eat and cook, but needs help to buy food;" "41y-50y" "" "" "" "loss" "" "" "" "" "" "" "" "" "cerebellar atrophy (HP:0001272)" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS temporal" "" "OPA-1" "optic atrophy" "" "" ""
"0000083642" "04293" "00105746" "02109" "Unknown" "53y" "autosomal dominant optic atrophy; clinical info relatives available; Diabetes, High blood pressure, Renal failure; MR-spectroscopy: Lactate peak; vision loss evolution unknown; visual handicap: was never allowed to drive, able to eat, cook and buy food without help" "" "" "" "" "loss" "" "" "" "" "" "" "" "" "cerebral atrophy (HP:0002059)" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal;OS superotemporal" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD peripapillary;OD temporal;OS peripapillary;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083643" "04293" "00105747" "02109" "Unknown" "28y" "autosomal dominant optic atrophy; clinical info relatives available; vision loss evolution stable" "" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "OD Humphrey;OD -4.01 to -12;OD central;OD superotemporal;OS Humphrey;OS 0 to -4;OS central;OS superotemporal" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OD temporal grey;OS temporal;OS temporal grey" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083644" "04293" "00105748" "02109" "Unknown" "66y" "autosomal dominant optic atrophy; clinical info spans >50y, clinical info relatives available; Cataract, Intestinal obstruction; vision loss evolution stable; muscle biopsy cox-fibers;" "01y-05y" "" "" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "OD Humphrey;OD -4.01 to -12;OD central;OD superotemporal;OS Humphrey;OS -12.01 to -20;OS undefined" "OD 0.5 LogMAR;OS 1.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OD peripapillary;OS diffuse;OS peripapillary" "" "OPA-1" "optic atrophy" "" "" ""
"0000083645" "04293" "00105749" "02109" "Unknown" "52y" "autosomal dominant optic atrophy; clinical info spans 31-40y, clinical info relatives available; vision loss evolution stable" "21y-30y" "" "" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "OD centrocecal;OD superotemporal;OS Humphrey;OS 0 to -4;OS normal" "OD 0.1 LogMAR;OS 0.1 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD peripapillary;OD temporal;OS normal;OS peripapillary" "" "OPA-1" "optic atrophy" "" "" ""
"0000083646" "04293" "00105750" "02109" "Unknown" "22y" "autosomal dominant optic atrophy; clinical info relatives available; vision loss evolution unknown" "" "" "" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OD superotemporal;OS Humphrey;OS -4.01 to -12;OS central;OS superotemporal" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OD peripapillary;OS diffuse" "" "OPA-1" "optic atrophy" "" "" ""
"0000083647" "04293" "00105751" "02109" "Unknown" "38y" "autosomal dominant optic atrophy" "" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?" "OD -4.01 to -12;OD superotemporal;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD 0.8 LogMAR;OS 0.8 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OD peripapillary;OS diffuse;OS peripapillary" "" "OPA-1" "optic atrophy" "" "" ""
"0000083648" "04293" "00105752" "02109" "Unknown" "68y" "autosomal dominant optic atrophy; clinical info spans 41-50y, clinical info relatives available; High blood pressure; vision loss evolution unknown;visual handicap: stopped driving, able to eat and cook, but needs help to buy food, social life severely reduced" "11y-20y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OD superotemporal;OS Humphrey;OS -4.01 to -12;OS centrocecal;OS superotemporal" "OD 2.0 LogMAR;OS 1.3 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD peripapillary;OD temporal;OS peripapillary;OS temporal" "" "OPA-1" "optic atrophy" "alcohol: 1-7 drinks/week;tobacco: >20 packs/year" "" ""
"0000083649" "04293" "00105753" "02109" "Unknown" "50y" "autosomal dominant optic atrophy; clinical info relatives available; vision loss evolution unknown; visual handicap: able to drive, eat, cook and buy food without help, no difficulty in social life" "" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL temporal;OD GCL thinner;OS RNFL temporal;OS GCL thinner;cirrus" "OD Humphrey;OD 0 to -4;OD normal;OS Humphrey;OS -4.01 to -12;OS superotemporal" "OD 0.1 LogMAR;OS 0.1 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS temporal" "OD normal;OS normal" "OPA-1" "optic atrophy" "alcohol: occasionally;tobacco: none" "" ""
"0000083650" "04293" "00105754" "02109" "Unknown" "46y" "autosomal dominant optic atrophy plus; clinical info spans 31-40y, clinical info relatives available; Ataxia, Dystonia, High blood pressure, Peripheral neuropathy, Ptosis; vision loss evolution stable; pure tone audiometry mild loss (loss of 21-40dB); ENMG sensori-motor neuropathy, axonal" "06y-10y" "" "hearing loss" "" "loss" "" "" "" "" "" "" "" "" "normal" "OD GCL thinner;OS GCL thinner;other" "OD Humphrey;OD paracentral;OS Humphrey;OS paracentral" "OD 1.0 LogMAR;OS 1.0 LogMAR" "OD diffuse;OS diffuse" "OD tritanopia;OS tritanopia" "OPA+" "optic atrophy" "" "" ""
"0000083651" "04293" "00105755" "02109" "Unknown" "23y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; vision loss evolution unknown; visual handicap: able to drive, eat, cook and buy food without help, no difficulty in social life; no muscle/nerve biopsy performed" "11y-20y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Humphrey;OD 0 to -4;OD central;OS Humphrey;OS 0 to -4;OS central" "OD 0.2 LogMAR;OS 0.3 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS temporal" "OD normal;OS normal" "OPA-1" "optic atrophy" "alcohol: occasionally;tobacco: occasionally" "" ""
"0000083652" "04293" "00105756" "02109" "Unknown" "12y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; vision loss evolution stable" "06y-10y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Goldmann;OD central;OS Goldmann;OS central" "OD 0.8 LogMAR;OS 0.8 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000083653" "04293" "00105757" "02109" "Unknown" "12y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; vision loss evolution stable" "06y-10y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner;cirrus" "OD Goldmann;OD central;OS Goldmann;OS central" "OD 0.9 LogMAR;OS 1.0 LogMAR" "OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000083654" "04293" "00105758" "02109" "Unknown" "09y" "autosomal dominant optic atrophy; clinical info spans <11y, ? clinical info relatives; vision loss evolution unknown; pure tone audiometry normal hearing (loss of 0-20dB)" "01y-05y" "" "normal" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL ?;OD GCL ?;OS RNFL ?;OS GCL ?" "" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD diffuse;OS diffuse" "" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000083655" "04293" "00105759" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083656" "04293" "00105760" "02109" "Unknown" "43y" "autosomal dominant optic atrophy; clinical info spans 21-30y, no clinical info relatives; Glaucoma; vision loss evolution unknown; visual handicap: able to eat, cook and buy food without help" "11y-20y" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "optic atrophy (HP:0000648)" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD 1.0 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS temporal" "OD deuteranopia;OS deuteranopia" "OPA-1" "optic atrophy" "alcohol: occasionally;tobacco: none" "" ""
"0000083657" "04293" "00105761" "02109" "Unknown" "41y" "autosomal dominant optic atrophy; clinical info spans 21-30y, ? clinical info relatives; vision loss worsening (loss of 2 or more decimal lines since diagnosis)" "11y-20y" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "optic atrophy (HP:0000648)" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD -4.01 to -12;OD undefined;OS Humphrey;OS -4.01 to -12;OS undefined" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD diffuse;OS diffuse" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "alcohol: occasionally;tobacco: none" "" ""
"0000083658" "04293" "00105762" "02109" "Unknown" "31y" "autosomal dominant optic atrophy; clinical info spans 11-20y, clinical info relatives available; vision loss evolution unknown" "11y-20y" "" "normal" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD 0 to -4;OD centrocecal;OS Humphrey;OS 0 to -4;OS centrocecal" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OD temporal grey;OS temporal;OS temporal grey" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083659" "04293" "00105763" "02109" "Unknown" "58y" "autosomal dominant optic atrophy; clinical info spans 41-50y, clinical info relatives available; vision loss worsening (loss of 2 or more decimal lines since diagnosis)" "11y-20y" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "normal" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Goldmann;OD undefined;OS Goldmann;OS centrocecal" "OD 0.5 LogMAR;OS 1.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OS diffuse;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "" "" ""
"0000083660" "04293" "00105764" "02109" "Unknown" "31y" "autosomal dominant optic atrophy; asymptomatic, clinical info relatives available; vision loss evolution unknown; visual handicap: able to drive" "" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD 0 to -4;OD central;OS Humphrey;OS 0 to -4;OS centrocecal" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OS diffuse" "OD tritanopia;OS dyschromatopsia" "OPA-1" "optic atrophy" "" "" ""
"0000083661" "04293" "00105765" "02109" "Unknown" "22y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; vision loss evolution unknown; visual handicap: able to drive, eat, cook and buy food without help;" "21y-30y" "" "" "" "loss" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD 0 to -4;OD normal;OS Humphrey;OS 0 to -4;OS normal" "OD 0.1 LogMAR;OS normal" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "" "" ""
"0000083662" "04293" "00105766" "02109" "Unknown" "65y" "autosomal dominant optic atrophy; clinical info spans <11y, clinical info relatives available; Diabetes, High blood pressure; vision loss evolution unknown;pure tone audiometry mild loss (loss of 21-40dB)" ">50y" "" "hearing loss" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "atrophy optic;leukodystrophy" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD -12.01 to -20;OD superotemporal;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD severe;OS severe" "OD temporal;OS temporal;OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4" "OD dyschromatopsia;OS tritanopia" "OPA-1" "optic atrophy" "" "" ""
"0000083663" "04293" "00105767" "02109" "Unknown" "45y" "autosomal dominant optic atrophy; clinical info relatives available; vision loss evolution unknown" "" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "normal" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD 0.5 LogMAR;OS 0.1 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "alcohol: occasionally;tobacco: 16-20 packs/year" "" ""
"0000083664" "04293" "00105768" "02109" "Unknown" "47y" "autosomal dominant optic atrophy; clinical info spans 31-40y, no clinical info relatives; vision loss evolution unknown" "11y-20y" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "white matter abnormalities (HP:002500)" "OD RNFL two or more;OD GCL ?;OS RNFL two or more;OS GCL ?;Heidelberg" "OD Goldmann;OD central;OS Goldmann;OS central" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse;OS diffuse" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000083665" "04293" "00105769" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083666" "04293" "00105770" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083667" "04293" "00105771" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083668" "04293" "00105772" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083669" "04293" "00105773" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083670" "04293" "00105774" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083671" "04293" "00105775" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083672" "04293" "00105776" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083673" "04293" "00105777" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083674" "04293" "00105778" "01536" "Unknown" "" "autosomal dominant optic atrophy plus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083675" "04293" "00105779" "01536" "Unknown" "" "Autosomal Dominant Optic Atrophy + Deafness" "" "" "hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083676" "04293" "00105780" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083677" "04293" "00105781" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083678" "04293" "00105782" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083679" "04293" "00105783" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083680" "04293" "00105784" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083681" "04293" "00105785" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083682" "04293" "00105786" "01536" "Unknown" "" "autosomal dominant optic atrophy plus" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083683" "04293" "00105787" "01536" "Unknown" "" "Autosomal Dominant Optic Atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083684" "04293" "00105788" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083685" "04293" "00105789" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083686" "04293" "00105790" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083687" "04293" "00105791" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083688" "04293" "00105792" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083689" "04293" "00105793" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083690" "04293" "00105794" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083691" "04293" "00105795" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083692" "04293" "00105796" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083693" "04293" "00105797" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083694" "04293" "00105798" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083695" "04293" "00105799" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083696" "04293" "00105800" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083697" "04293" "00105801" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083698" "04293" "00105802" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083699" "04293" "00105803" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083700" "04293" "00105804" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083701" "04293" "00105805" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083702" "04293" "00105806" "01536" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000083703" "04293" "00105807" "02111" "Unknown" "73y" "autosomal dominant optic atrophy; clinical info spans <11y, no clinical info relatives; complaints of fatigue and tingling ; vision loss evolution unknown; pure tone audiometry normal hearing (loss of 0-20dB); visual handicap: able to drive, eat, cook and buy food without help, no difficulty in social life; muscle biopsy not performed" ">50y" "" "" "" "loss" "walking with no technical assistance" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000083704" "04293" "00105808" "02111" "Unknown" "55y" "autosomal dominant optic atrophy plus; clinical info spans >50y, clinical info relatives available; Ataxia, Optic atrophy, Peripheral neuropathy, spastic paraplegia; vision loss worsening (loss of 2 or more decimal lines since diagnosis)" "01y-05y" "" "normal" "" "loss" "wheelchair bound (disease duration <10y), upper limbs difficulty with buttons/zip, difficulty to write (disease duration unknown)" "" "" "" "" "" "" "" "" "" "" "OD 1.3 LogMAR;OS 1.3 LogMAR" "" "" "OPA+" "optic atrophy" "" "" ""
"0000083705" "00198" "00105809" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083706" "00198" "00105810" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083707" "00198" "00105811" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083708" "00198" "00105812" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083709" "00198" "00105813" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083710" "00198" "00105814" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083711" "00198" "00105815" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083712" "00198" "00105816" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083713" "00198" "00105817" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083714" "00198" "00105818" "02112" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000083715" "04293" "00105819" "00091" "Unknown" "" "autosomal dominant optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000122583" "00198" "00150181" "00006" "Familial, autosomal dominant" "" "Crerebellar and brain stem atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000124196" "00168" "00151830" "00006" "Familial, autosomal recessive" "31y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000129568" "04293" "00164531" "02411" "Unknown" "19y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "" "OD 0.5 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129569" "04293" "00164532" "02411" "Unknown" "45y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "nr" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD superotemporal;OD -4.01 to -12;OS centrocecal;OS 0 to -4" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129570" "04293" "00164533" "02411" "Unknown" "22y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cortical lesions, posterior;white matter abnormalities (HP:002500)" "" "OD Goldmann;OS Goldmann;OD centrocecal;OS centrocecal" "OD 0.8 LogMAR;OS 0.7 LogMAR" "OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129571" "04293" "00164534" "02411" "Unknown" "56y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;cortical lesions, posterior;white matter abnormalities (HP:002500)" "" "OD Humphrey;OS Humphrey;OD centrocecal;OS centrocecal" "OD 1.2 LogMAR;OS 1.2 LogMAR" "OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129572" "04293" "00164535" "02411" "Unknown" "21y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cortical lesions, posterior;white matter abnormalities (HP:002500)" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann;OD paracentral;OS paracentral" "OD 0.7 LogMAR;OS 1.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.8-1;OD temporal;OS peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OS temporal;OS peripapillary" "OD normal;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129573" "04293" "00164536" "02411" "Unknown" "33y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855)" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.3 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129574" "04293" "00164537" "02411" "Unknown" "32y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "other;OD RNFL two or more;OS RNFL two or more" "" "OD 1.1 LogMAR;OS 1.1 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD protanopia;OS protanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129575" "04293" "00164538" "02411" "Unknown" "16y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRspec lactate peak" "" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD 0.3 LogMAR;OS 0.3 LogMAR" "OD peripapillary;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129576" "04293" "00164539" "02411" "Unknown" "48y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855);white matter abnormalities (HP:002500)" "" "" "OD normal;OS normal" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129577" "04293" "00164540" "02411" "Unknown" "50y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD superotemporal;OD centrocecal;OD paracentral;OS centrocecal;OS paracentral" "OD 0.7 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS optic disc" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129578" "04293" "00164541" "02411" "Unknown" "42y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "" "other;OD RNFL two or more;OS RNFL two or more" "" "OD 0.4 LogMAR;OS 0.3 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "tobacco: 16-20 packs/year;alcohol: occasionally" "" ""
"0000129579" "04293" "00164542" "02411" "Unknown" "60y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "" "" "" "OD 0.9 LogMAR;OS 1.1 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129580" "04293" "00164543" "02411" "Unknown" "26y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.6 LogMAR;OS 0.8 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129581" "04293" "00164544" "02411" "Unknown" "24y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS normal;OS 0 to -4" "OD 0.2 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD normal;OS normal" "OPA-1" "optic atrophy" "nr" "" ""
"0000129582" "04293" "00164545" "02411" "Unknown" "49y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD 0.2 LogMAR;OS normal" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000129583" "04293" "00164546" "02411" "Unknown" "24y" "" "" "birth weight: 3270" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "" "" "OD 1.0 LogMAR;OS 0.7 LogMAR" "OD temporal;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129584" "04293" "00164547" "02411" "Unknown" "13y" "" "" "birth weight: 3750" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "stratus;OD RNFL temporal;OS RNFL temporal" "OD Humphrey;OS Humphrey;OD centrocecal;OS undefined" "OD 0.4 LogMAR;OS 0.3 LogMAR" "" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129585" "04293" "00164548" "02411" "Unknown" "36y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD ?;OS ?" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal;OS peripapillary" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129586" "04293" "00164549" "02411" "Unknown" "23y" "" "" "birth weight: 3850" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;cortical lesions, posterior" "" "OD Humphrey;OS Humphrey;OD -4.01 to -12;OS centrocecal;OS 0 to -4" "OD 2.0 LogMAR;OS 2.0 LogMAR" "OD optic disc;OD peripapillary;OS peripapillary" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129587" "04293" "00164550" "02411" "Unknown" "46y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cortical lesions, posterior" "" "OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 1.0 LogMAR;OS 1.1 LogMAR" "OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129588" "04293" "00164551" "02411" "Unknown" "53y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "" "OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 1.0 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD tritanopia;OS normal" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000129589" "04293" "00164552" "02411" "Unknown" "56y" "" "" "birth weight: ?" "hearing loss" "" "photophobia" "" "" "" "" "" "" "" "" "MRI;normal" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.3 LogMAR;OS 0.4 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000129590" "04293" "00164553" "02411" "Unknown" "64y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.3 LogMAR;OS light perception w/o projection" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129591" "04293" "00164554" "02411" "Unknown" "41y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OS superotemporal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.4 LogMAR;OS 0.4 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "tobacco: >20 packs/year;alcohol: >21 drinks/week" "" ""
"0000129592" "04293" "00164555" "02411" "Unknown" "51y" "" "" "birth weight: ?" "nr" "" "nr" "" "31y-40y" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855)" "OD RNFL temporal;OS RNFL temporal;Heidelberg" "OD Humphrey;OD 0 to -4;OD centrocecal;OS Humphrey;OS 0 to -4;OS centrocecal" "OD 0.7 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD peripapillary;OD temporal;OS peripapillary;OS temporal" "OD dyschromatopsia;OS protanopia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000129593" "04293" "00164556" "02411" "Unknown" "18y" "" "" "birth weight: 3200" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;cortical lesions, posterior" "" "" "OD 0.7 LogMAR;OS 0.5 LogMAR" "OD peripapillary;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129594" "04293" "00164557" "02411" "Unknown" "64y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;stroke-like lesions" "stratus;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OD centrocecal;OS Goldmann;OS superotemporal;OS centrocecal" "OD 0.7 LogMAR;OS 0.7 LogMAR" "" "" "OPA-1" "optic atrophy" "alcohol: 1-7 drinks/week" "" ""
"0000129595" "04293" "00164558" "02411" "Unknown" "87y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.7 LogMAR;OS 1.0 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129596" "04293" "00164559" "02411" "Unknown" "19y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "stratus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.5 LogMAR;OS 0.6 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129597" "04293" "00164560" "02411" "Unknown" "53y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855)" "Heidelberg;OD RNFL normal;OS RNFL two or more" "OD Humphrey;OS Humphrey;OS superotemporal;OS superotemporal;OS centrocecal;OS -4.01 to -12" "OD no light perception;OS 0.3 LogMAR" "" "OD ?;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129598" "04293" "00164561" "02411" "Unknown" "56y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "Heidelberg;OD RNFL normal;OS RNFL normal" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "OD normal;OS normal" "OPA-1" "optic atrophy" "nr" "" ""
"0000129599" "04293" "00164562" "02411" "Unknown" "16y" "" "" "birth weight: 4380" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Goldmann;OS Goldmann;OD normal;OS normal" "OD 2.0 LogMAR;OS 2.0 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129600" "04293" "00164563" "02411" "Unknown" "39y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.2 LogMAR;OS 0.2 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000129601" "04293" "00164564" "02411" "Unknown" "38y" "" "" "birth weight: 2700" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 1.2 LogMAR;OS 1.2 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129602" "04293" "00164565" "02411" "Unknown" "39y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "MRI;normal" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "" "OD 0.2 LogMAR;OS 0.2 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129603" "04293" "00164566" "02411" "Unknown" "16y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD -4.01 to -12;OS centrocecal;OS -12.01 to -20" "OD 1.0 LogMAR;OS 2.0 LogMAR" "" "OD normal;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129604" "04293" "00164567" "02411" "Unknown" "50y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "" "" "OD 2.0 LogMAR;OS 1.3 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129605" "04293" "00164568" "02411" "Unknown" "54y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855);MRspec lactate peak;cortical lesions, posterior" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann;OD centrocecal;OD -4.01 to -12;OS centrocecal;OS -4.01 to -12" "OD 2.0 LogMAR;OS 1.3 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "tobacco: 16-20 packs/year" "" ""
"0000129606" "04293" "00164569" "02411" "Unknown" "67y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.7 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129607" "04293" "00164570" "02411" "Unknown" "17y" "" "" "birth weight: 3170" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "" "" "OD 0.6 LogMAR;OS 0.6 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129608" "04293" "00164571" "02411" "Unknown" "50y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "MRI;optic atrophy (HP:0000648);optic nerve chiasmal lesions" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann;OD centrocecal;OS centrocecal" "OD light perception w/o projection;OS light perception w/o projection" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OS temporal" "OD tritanopia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129609" "04293" "00164572" "02411" "Unknown" "32y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann ;OD superotemporal;OD -4.01 to -12;OS superotemporal;OS -4.01 to -12" "OD 0.4 LogMAR;OS 0.3 LogMAR" "OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129610" "04293" "00164573" "02411" "Unknown" "20y" "" "" "birth weight: 3350" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "MRI;grey matter abnormality" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD superotemporal;OD centrocecal;OD -4.01 to -12;OS normal;OS 0 to -4" "OD 0.3 LogMAR;OS 0.2 LogMAR" "OD temporal;OD peripapillary;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129611" "04293" "00164574" "02411" "Unknown" "46y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855);MRspec lactate peak" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann;OD normal;OD 0 to -4;OS paracentral;OS 0 to -4" "OD 0.3 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129612" "04293" "00164575" "02411" "Unknown" "11y" "" "" "birth weight: 3750" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Goldmann;OS Goldmann;OD centrocecal;OS centrocecal" "OD 0.4 LogMAR;OS 0.4 LogMAR" "OD temporal;OS temporal" "OD normal;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129613" "04293" "00164576" "02411" "Unknown" "7y" "" "" "birth weight: 3140" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.4 LogMAR" "OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD normal;OS protanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129614" "04293" "00164577" "02411" "Unknown" "33y" "" "" "birth weight: 2700" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD 0 to -4;OD normal;OS 0 to -4;OS normal" "OD 0.2 LogMAR;OS 0.2 LogMAR" "OD peripapillary;OS peripapillary" "OD normal;OS normal" "OPA-1" "optic atrophy" "nr" "" ""
"0000129615" "04293" "00164578" "02411" "Unknown" "58y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD superotemporal;OD -4.01 to -12;OS centrocecal;OS superotemporal;OS -4.01 to -12" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD temporal;OD peripapillary;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129616" "04293" "00164579" "02411" "Unknown" "30y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "" "OD Goldmann;OS Goldmann;OD undefined;OS undefined" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129617" "04293" "00164580" "02411" "Unknown" "11y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD normal;OS normal" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129618" "04293" "00164581" "02411" "Unknown" "11y" "" "" "birth weight: 4050" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129619" "04293" "00164582" "02411" "Unknown" "26y" "" "" "birth weight: 3960" "nr" "" "hemeralopia" "" "" "" "" "" "" "" "" "" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann;OD normal;OS normal" "OD 0.6 LogMAR;OS 0.6 LogMAR" "OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129620" "04293" "00164583" "02411" "Unknown" "65y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Goldmann;OS Goldmann;OD centrocecal;OS centrocecal" "OD 1.2 LogMAR;OS 1.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD tritanopia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129621" "04293" "00164584" "02411" "Unknown" "8y" "" "" "birth weight: 3500" "nr" "" "?" "" "" "" "" "" "" "" "" "MRI;optic atrophy (HP:0000648);optic nerve chiasmal lesions" "" "" "OD 0.9 LogMAR;OS 0.7 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129622" "04293" "00164585" "02411" "Unknown" "28y" "" "" "birth weight: 2920" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;normal" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD -4.01 to -12;OS centrocecal;OS -4.01 to -12" "OD 0.8 LogMAR;OS 0.8 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129623" "04293" "00164586" "02411" "Unknown" "60y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS -4.01 to -12" "OD 1.1 LogMAR;OS 0.7 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS peripapillary" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129624" "04293" "00164587" "02411" "Unknown" "16y" "" "" "birth weight: 2800" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD undefined;OS centrocecal;OS undefined" "OD ?;OS ?" "" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129625" "04293" "00164588" "02411" "Unknown" "28y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;normal" "Heidelberg;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS -4.01 to -12" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD peripapillary;OS peripapillary" "OD normal;OS normal" "OPA-1" "optic atrophy" "nr" "" ""
"0000129626" "04293" "00164589" "02411" "Unknown" "58y" "" "" "birth weight: ?" "nr" "" "hemeralopia;photophobia" "" "" "" "" "" "" "" "" "MRI;optic atrophy (HP:0000648)" "Heidelberg;OD RNFL two or more;OS RNFL temporal" "OD Humphrey;OS Humphrey;OD centrocecal;OD -4.01 to -12;OS centrocecal;OS -4.01 to -12" "OD 2.0 LogMAR;OS 2.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD optic disc;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS optic disc;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000129627" "04293" "00164590" "02411" "Unknown" "48y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;white matter abnormalities (HP:002500)" "" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD 0.6 LogMAR;OS 0.2 LogMAR" "" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129628" "04293" "00164591" "02411" "Unknown" "15y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD 0.4 LogMAR;OS 0.4 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD normal;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129629" "04293" "00164592" "02411" "Unknown" "13y" "" "" "birth weight: 4200" "nr" "" "hemeralopia" "" "" "" "" "" "" "" "" "" "" "" "OD 3.0 LogMAR;OS 3.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129630" "04293" "00164593" "02411" "Unknown" "14y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "" "" "" "OD 0.8 LogMAR;OS 1.0 LogMAR" "" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129631" "04293" "00164594" "02411" "Unknown" "10y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "01y-05y" "" "" "" "" "" "" "OD RNFL two or more;OS RNFL two or more;cirrus" "OD Humphrey;OD -12.01 to -20;OD centrocecal;OD undefined;OS Humphrey;OS -12.01 to -20;OS centrocecal;OS undefined" "OD 1.0 LogMAR;OS 0.9 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129632" "04293" "00164595" "02411" "Unknown" "32y" "" "" "birth weight: ?" "normal" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL two or more;OS RNFL two or more" "" "OD 0.3 LogMAR;OS 0.4 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129633" "04293" "00164596" "02411" "Unknown" "65y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD -4.01 to -12;OS undefined;OS -4.01 to -12" "OD 1.1 LogMAR;OS 1.1 LogMAR" "OD peripapillary;OS peripapillary" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129634" "04293" "00164597" "02411" "Unknown" "40y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.5 LogMAR;OS 0.5 LogMAR" "OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129635" "04293" "00164598" "02411" "Unknown" "68y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD -4.01 to -12;OS centrocecal;OS -4.01 to -12" "OD 0.4 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129636" "04293" "00164599" "02411" "Unknown" "14y" "" "" "birth weight: 2900" "hearing loss" "" "nr" "" "" "" "" "" "" "" "" "MRI;normal" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS central;OS -4.01 to -12" "OD 0.2 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129637" "04293" "00164600" "02411" "Unknown" "14y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.7 LogMAR;OS 0.5 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129638" "04293" "00164601" "02411" "Unknown" "47y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.3 LogMAR;OS 0.4 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.8-1;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129639" "04293" "00164602" "02411" "Unknown" "35y" "" "" "birth weight: ?" "normal" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD centrocecal;OD 0 to -4;OS centrocecal;OS 0 to -4" "OD 0.3 LogMAR;OS 0.2 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.8-1;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.8-1;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129640" "04293" "00164603" "02411" "Unknown" "41y" "" "" "birth weight: ?" "normal" "" "nr" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OS RNFL two or more;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD 0.8 LogMAR;OS 0.8 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;temporal;OD temporal;OS peripapillary;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129641" "04293" "00164604" "02411" "Unknown" "53y" "" "" "birth weight: ?" "nr" "" "nr" "" "41y-50y" "" "" "" "" "" "" "MRI;cerebellar atrophy (HP:0001272);cerebellar vermis atrophy (HP:0006855);MRspec lactate peak" "OD RNFL two or more;OS RNFL two or more;cirrus" "" "OD 1.1 LogMAR;OS 0.9 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129642" "04293" "00164605" "02411" "Unknown" "38y" "" "" "birth weight: ?" "nr" "" "nr" "" "31y-40y" "" "" "" "" "" "" "MRI;normal" "OD RNFL two or more;OS RNFL superior;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal;OS undefined" "OD 1.0 LogMAR;OS light perception w/o projection" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4;OD diffuse" "OD protanopia;OS protanopia" "OPA-1" "optic atrophy" "alcohol: occasionally;tobacco: >20 packs/year" "" ""
"0000129643" "04293" "00164606" "02411" "Unknown" "63y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD light perception w/o projection;OS light perception w/o projection" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129644" "04293" "00164607" "02411" "Unknown" "35y" "" "" "birth weight: ?" "nr" "" "nr" "" "31y-40y" "" "" "" "" "" "" "" "" "" "OD 1.1 LogMAR;OS 1.1 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129645" "04293" "00164608" "02411" "Unknown" "22y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.1 LogMAR;OS 0.2 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129646" "04293" "00164609" "02411" "Unknown" "28y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "OD 0.9 LogMAR;OS 0.6 LogMAR" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129647" "04293" "00164610" "02411" "Unknown" "51y" "" "" "birth weight: ?" "nr" "" "photophobia" "" "" "" "" "" "" "" "" "" "" "" "OD 1.2 LogMAR;OS 1.1 LogMAR" "OD temporal;OS temporal" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129648" "04293" "00164611" "02411" "Unknown" "5y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL two or more;OS RNFL two or more" "" "OD light perception w/o projection;OS light perception w/o projection" "" "OD ?;OS ?" "OPA-1" "optic atrophy" "nr" "" ""
"0000129649" "04293" "00164612" "02411" "Unknown" "33y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "OD Humphrey;OS Humphrey;OD centrocecal;OD paracentral;OD -4.01 to -12;OS undefined;OS -4.01 to -12" "OD 0.9 LogMAR;OS 0.6 LogMAR" "OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "tobacco: none" "" ""
"0000129650" "04293" "00164613" "02411" "Unknown" "39y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD normal;OS normal" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OD temporal;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129651" "04293" "00164614" "02411" "Unknown" "13y" "" "" "birth weight: 3400" "normal" "" "photophobia" "" "" "" "" "" "" "" "" "MRI;optic atrophy (HP:0000648)" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD normal;OD -4.01 to -12;OS normal;OS -4.01 to -12" "OD 0.7 LogMAR;OS 0.7 LogMAR" "OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129652" "04293" "00164615" "02411" "Unknown" "9y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL temporal;OS RNFL temporal" "" "OD 0.2 LogMAR;OS 0.2 LogMAR" "OD temporal;OS temporal" "OD dyschromatopsia;OS dyschromatopsia" "OPA-1" "optic atrophy" "nr" "" ""
"0000129653" "04293" "00164616" "02411" "Unknown" "18y" "" "" "birth weight: ?" "normal" "" "nr" "" "" "06y-10y" "" "" "" "" "" "" "OD RNFL two or more;OS RNFL two or more;cirrus" "OD Humphrey;OD -12.01 to -20;OD undefined;OS Humphrey;OS -12.01 to -20;OS superotemporal" "OD 2.0 LogMAR;OS 2.0 LogMAR" "OD increased cup-to-disc ratio (HP:0012796) 0-0.4;OS increased cup-to-disc ratio (HP:0012796) 0-0.4" "OD protanopia;OS dyschromatopsia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none" "" ""
"0000129654" "04293" "00164617" "02411" "Unknown" "18y" "" "" "birth weight: ?" "nr" "" "nr" "" "06y-10y" "" "" "" "" "" "" "" "OD RNFL two or more;OS RNFL two or more;cirrus" "OD Humphrey;OD -4.01 to -12;OD centrocecal;OS Humphrey;OS -4.01 to -12;OS centrocecal" "OD 0.4 LogMAR;OS 0.4 LogMAR" "OD temporal;OS temporal" "OD tritanopia;OS tritanopia" "OPA-1" "optic atrophy" "alcohol: none;tobacco: none;nr" "" ""
"0000129655" "04293" "00164618" "02411" "Unknown" "24y" "" "" "birth weight: ?" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "cirrus;OD RNFL two or more;OS RNFL two or more" "OD Humphrey;OS Humphrey;OD normal;OD 0 to -4;OS normal;OS 0 to -4" "OD normal;OS normal" "OD increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OD temporal;OD peripapillary;OS increased cup-to-disc ratio (HP:0012796) 0.5-0.7;OS temporal;OS peripapillary" "OD protanopia;OS protanopia" "OPA-1" "optic atrophy" "nr" "" ""
"0000143178" "04293" "00180915" "02564" "Familial, autosomal dominant" "" "Behavioral abnormality (HP:0000708), Obesity (HP:0001513), Microcephaly (HP:0000252), Dysthymia, avoidant, personality disorder, bilateral inguinal hernia, uterine fibroma, hypertension, microcephaly, optic atrophy, hearing loss, obese (BMI 32)" "" "" "abnormal" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143179" "04293" "00180916" "02564" "Familial, autosomal dominant" "" "Behavioral abnormality (HP:0000708)" "" "" "abnormal" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143180" "04293" "00180917" "02564" "Familial, autosomal dominant" "" "Autistic behavior (HP:0000729), Behavioral abnormality (HP:0000708), Overweight (HP:0025502)" "" "" "normal" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143181" "04293" "00180918" "02564" "Familial, autosomal dominant" "" "Behavioral abnormality (HP:0000708), \tObesity (HP:0001513)" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143183" "04293" "00180919" "02564" "Familial, autosomal dominant" "" "Behavioral abnormality (HP:0000708), Obesity (HP:0001513), Microcephaly (HP:0000252)" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143184" "04293" "00180920" "02564" "Familial, autosomal dominant" "" "Overweight (HP:0025502), Behavioral abnormality (HP:0000708)" "" "" "normal" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "nr" "" ""
"0000143185" "04293" "00180921" "02564" "Familial, autosomal dominant" "" "Autism (HP:0000717), Overweight (HP:0025502), Constipation (HP:0002019)" "" "" "nr" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143219" "04293" "00180952" "02564" "Familial, autosomal dominant" "" "Progressive spastic quadriplegia (HP:0002478), Intellectual disability, profound (HP:0002187)" "" "" "nr" "" "loss" "" "" "" "" "" "" "" "" "MRI" "" "" "" "" "" "OPA-1" "optic atrophy" "nr" "" ""
"0000143228" "04293" "00180962" "02564" "Familial, autosomal dominant" "25y" "Nystagmus (HP:0000639), Strabismus (HP:0000486), Retinal thinning (HP:0030329)" "" "" "normal" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormal" "OPA-1" "optic atrophy" "nr" "" ""
"0000143229" "04293" "00180963" "02564" "Familial, autosomal dominant" "34y" "" "" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL temporal" "" "" "temporal" "abnormal" "OPA-1" "optic atrophy" "" "" ""
"0000143230" "04293" "00180965" "02564" "Familial, autosomal dominant" "45y" "" "" "" "normal" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "diffuse" "" "OPA-1" "optic atrophy" "" "" ""
"0000143231" "04293" "00180964" "02564" "Familial, autosomal dominant" "05y" "" "" "" "hearing loss" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormal" "OPA-1" "optic atrophy" "" "" ""
"0000143232" "04293" "00180966" "02564" "Familial, autosomal dominant" "04y" "Nystagmus (HP:0000639)" "" "" "normal" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "OPA-1" "optic atrophy" "" "" ""
"0000143234" "04293" "00180968" "02564" "Familial, autosomal dominant" "" "Photophobia (HP:0000613)" "12y" "" "normal" "" "" "" "" "" "" "" "" "" "" "" "" "central" "" "" "abnormal" "OPA-1" "optic atrophy" "nr" "" ""
"0000143347" "04293" "00180967" "02564" "Familial, autosomal dominant" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "normal" "OPA-1" "optic atrophy" "" "" ""
"0000143348" "04293" "00181097" "02564" "Familial, autosomal dominant" "06y" "Photophobia (HP:0000613)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "abnormal" "OPA-1" "optic atrophy" "" "" ""
"0000143404" "04293" "00180950" "02564" "Familial, autosomal dominant" "" "Spastic paraplegia (HP:0001258), Migraine with aura (HP:0002077), Patent foramen ovale (HP:0001655), Abnormality of muscle fibers (HP:0004303)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD abnormal;OS abnormal" "" "" "OPA+" "optic atrophy" "" "" ""
"0000143405" "04293" "00181084" "02564" "Familial, autosomal dominant" "09y" "Congenital glaucoma (HP:0001087)\r\n\r\nNeurologic examination was unremarkable. Ophthalmologic examination revealed visual acuity ranging from 20/20 to less than 20/200. Color vision was normal in two subjects, the other 16 had different degrees of color sensitivity deficiency (eight of them showed generalized color sensitivity deficit)." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD abnormal;OS abnormal" "" "" "OPA+" "optic atrophy" "" "" ""
"0000143407" "04293" "00180948" "02564" "Familial, autosomal dominant" "" "Increased intraocular pressure (HP:0007906)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD abnormal;OS abnormal" "" "" "OPA+" "optic atrophy" "" "" ""
"0000143408" "04293" "00181095" "02564" "Unknown" "" "Normal Tension Glaucoma (NTG) was identified; he also showed mild myopathy with increased subsarcolemmal storage of lipids and slight abnormalities in mitochondrial structures at muscle biopsy." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000143409" "04293" "00180377" "02564" "Familial, autosomal dominant" "" "Ptosis (HP:0000508), Progressive external ophthalmoplegia (HP:0000590)" "" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA+" "optic atrophy" "" "" ""
"0000143584" "04293" "00181398" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143585" "04293" "00181399" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143586" "04293" "00181400" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143587" "04293" "00181401" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143588" "04293" "00181402" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143589" "04293" "00181403" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143590" "04293" "00181404" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143591" "04293" "00181405" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143592" "04293" "00181406" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143593" "04293" "00181407" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143594" "04293" "00181408" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143595" "04293" "00181409" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143596" "04293" "00181410" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143597" "04293" "00181411" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143598" "04293" "00181412" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143599" "04293" "00181413" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143600" "04293" "00181414" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143601" "04293" "00181415" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143602" "04293" "00181416" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143603" "04293" "00181417" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143604" "04293" "00181418" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143605" "04293" "00181419" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143606" "04293" "00181420" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143607" "04293" "00181421" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143608" "04293" "00181422" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143609" "04293" "00181423" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143610" "04293" "00181424" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143611" "04293" "00181425" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143612" "04293" "00181426" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143613" "04293" "00181427" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143614" "04293" "00181428" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143615" "04293" "00181429" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143616" "04293" "00181430" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143617" "04293" "00181431" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143618" "04293" "00181432" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143619" "04293" "00181433" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143620" "04293" "00181434" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143621" "04293" "00181435" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143622" "04293" "00181436" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143623" "04293" "00181437" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143624" "04293" "00181438" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143625" "04293" "00181439" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143626" "04293" "00181440" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143627" "04293" "00181441" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143628" "04293" "00181442" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143629" "04293" "00181443" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143630" "04293" "00181444" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143631" "04293" "00181445" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143632" "04293" "00181446" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143633" "04293" "00181447" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143634" "04293" "00181448" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143635" "04293" "00181449" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143636" "04293" "00181450" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143637" "04293" "00181451" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143638" "04293" "00181452" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143639" "04293" "00181453" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143640" "04293" "00181454" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143641" "04293" "00181455" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143642" "04293" "00181456" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143643" "04293" "00181457" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143644" "04293" "00181458" "02564" "Familial" "21y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.7 LogMAR;OS 0.7 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143645" "04293" "00181459" "02564" "Isolated (sporadic)" "7y" "" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143646" "04293" "00181460" "02564" "Familial" "14y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 2.0 LogMAR;OS 2.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143647" "04293" "00181461" "02564" "Isolated (sporadic)" "17y" "" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 2.0 LogMAR;OS 2.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143648" "04293" "00181462" "02564" "Familial" "5y" "" "5y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.9 LogMAR;OS 0.9 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143649" "04293" "00181463" "02564" "Familial" "5y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143650" "04293" "00181464" "02564" "Isolated (sporadic)" "7y" "" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143651" "04293" "00181465" "02564" "Isolated (sporadic)" "9y" "" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.1 LogMAR;OS 0.1 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143652" "04293" "00181466" "02564" "Isolated (sporadic)" "27y" "" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.4 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143653" "04293" "00181467" "02564" "Isolated (sporadic)" "6y" "" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 0.9 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143654" "04293" "00181468" "02564" "Isolated (sporadic)" "27y" "" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.7 LogMAR;OS 0.4 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143655" "04293" "00181469" "02564" "Familial" "36y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.8 LogMAR;OS 0.7 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143656" "04293" "00181470" "02564" "Familial" "29y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143657" "04293" "00181471" "02564" "Isolated (sporadic)" "8y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143658" "04293" "00181472" "02564" "Isolated (sporadic)" "25y" "" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.8 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143659" "04293" "00181473" "02564" "Familial" "7y" "" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.1 LogMAR;OS 0.8 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143660" "04293" "00181474" "02564" "Isolated (sporadic)" "9y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143661" "04293" "00181475" "02564" "Isolated (sporadic)" "14y" "" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.8 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143662" "04293" "00181476" "02564" "Isolated (sporadic)" "9y" "" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.3 LogMAR;OS 1.3 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143663" "04293" "00181477" "02564" "Isolated (sporadic)" "8y" "" "6y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.4 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143664" "04293" "00181478" "02564" "Isolated (sporadic)" "10y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.3 LogMAR;OS 0.5 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143665" "04293" "00181479" "02564" "Familial" "10y" "" "9y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.3 LogMAR;OS 0.5 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143666" "04293" "00181480" "02564" "Isolated (sporadic)" "30y" "" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 2.0 LogMAR;OS 2.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143667" "04293" "00181481" "02564" "Familial" "32y" "" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.4 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143668" "04293" "00181482" "02564" "Familial" "13y" "" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.8 LogMAR;OS 0.7 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143669" "04293" "00181483" "02564" "Familial" "14y" "" "02y-06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.5 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143670" "04293" "00181484" "02564" "Familial" "9y" "" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.7 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143671" "04293" "00181485" "02564" "Familial" "14y" "" "2y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.1 LogMAR;OS 1.0 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143672" "04293" "00181486" "02564" "Familial" "8y" "" "7y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.2 LogMAR;OS 0.2 LogMAR" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143673" "04293" "00181487" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143674" "04293" "00181488" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143675" "04293" "00181489" "02564" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143676" "04293" "00181490" "02564" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143677" "04293" "00181491" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143678" "04293" "00181492" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143679" "04293" "00181493" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143680" "04293" "00181494" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143681" "04293" "00181495" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143682" "04293" "00181496" "02564" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143683" "04293" "00181497" "02564" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD RNFL two or more;OD GCL thinner;OS RNFL two or more;OS GCL thinner" "" "OD abnormal;OS abnormal" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143684" "04293" "00181498" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143685" "04293" "00181499" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143686" "04293" "00181500" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143687" "04293" "00181501" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143688" "04293" "00181502" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143689" "04293" "00181503" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143690" "04293" "00181504" "02564" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143691" "04293" "00181505" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000143692" "04293" "00181506" "02564" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA-1" "optic atrophy" "" "" ""
"0000156520" "04293" "00036419" "01164" "Unknown" "" "langsam progressive Optikusatrophiesince the 20 year of life, father and grand-father also affected" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156521" "00198" "00036420" "01164" "Unknown" "" "since age of 10 progressive decline of visus; family history on the mother´s side partially positive; pituitary adenoma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000156522" "00198" "00036424" "01164" "Unknown" "" "suspected mitochondriopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "mitochondrial disease?" "" "" ""
"0000156523" "04293" "00036427" "01164" "Unknown" "" "Optikusatrophie bilateral; since age of ten years \"\"weak\"\" eyes" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156524" "04293" "00036428" "01164" "Familial, autosomal dominant" "" "optic atrophy, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156525" "04293" "00036429" "01164" "Unknown" "" "Optikusatrophie, suspected hereditery cause" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156526" "04293" "00036430" "01164" "Unknown" "" "suspected autosomal-dominante Optikusatrophie, 4 generations (m/w) affected, Index affected preschool age" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy?" "" "" ""
"0000156527" "04293" "00036432" "01164" "Unknown" "" "suspected hereditary Optikusatrophie, Visusminderung bilateral" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156528" "04293" "00036433" "01164" "Familial" "" "familial optic atrophy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156529" "04293" "00036437" "01164" "Unknown" "" "Optikusatrophie;father also affected" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000156530" "04293" "00036440" "01164" "Unknown" "" "suspected autosomal-dominante Optikusatrophie" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy?" "" "" ""
"0000156905" "04293" "00103965" "01164" "Unknown" "" "found in combination with truncating variant in OPA1 which explains phenotype (optic atrophy) in this patient" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000166502" "04293" "00218053" "00091" "Unknown" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000173478" "01477" "00230995" "00091" "Familial" "12y" "Stroke (HP:0001297); Optic atrophy (HP:0000648); Progressive gait ataxia (HP:0007240); Dysarthria (HP:0001260); Tremor (HP:0001337); Specific learning disability (HP:0001328)" "00y18m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000173479" "01477" "00230996" "00091" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000179268" "04293" "00238975" "00091" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180249" "01477" "00240094" "00091" "Familial, autosomal dominant" "" "Moderate optic atrophy appeared in childhood, father suffering the same way. No other neurological signs mentioned." "" "" "" "" "" "" "44y" "" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.4 LogMAR" "" "" "" "" "" "" ""
"0000180430" "01477" "00240354" "00091" "Unknown" "" "" "" "" "" "" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180431" "01477" "00240359" "00091" "Unknown" "54y" "Chronic decreased visual acuity. No other signs." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD abnormal;OS abnormal" "" "" "" "" "" "" ""
"0000180432" "01477" "00240360" "00091" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD abnormal;OS abnormal" "" "" "" "" "" "" ""
"0000203308" "01477" "00265520" "00091" "Unknown" "33y" "Normal hearing (-HP:0000364); No peripheral neuropathy (-HP:0009830); No ophthalmoplegia (-HP:0000602); No Ataxia (-HP:0001251)" "29y" "" "normal" "" "" "" "29y" "" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.1 LogMAR" "" "" "" "" "" "" ""
"0000204147" "01477" "00266378" "00091" "Familial, autosomal dominant" "12y" "Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Microcephaly (HP:0000252);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.8 LogMAR;OS 0.8 LogMAR" "" "" "" "" "" "" ""
"0000207150" "01477" "00269319" "00091" "Familial, autosomal dominant" "68y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000209112" "00198" "00274167" "00006" "Familial, X-linked dominant" "" "mitochondrial disease criteria score 3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "" ""
"0000210289" "04293" "00275690" "00091" "Unknown" "66y" "No peripheral neuropathy (-HP:0009830); No myopathy (-HP:0003198)" "60y" "" "normal" "" "abnormal;acuity reduced;age;color vision;loss progressive" "" "" "Optic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "OD 0.4 LogMAR;OS 0.4 LogMAR" "" "abnormal;protanopia;OD protanopia" "" "" "" "" ""
"0000210473" "02412" "00275873" "00006" "Unknown" "12y" "childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; mild intelletual disability IQ<70; oral expression scales standard scores <85; gross or fine motor impairment; oral nonverbal motor impairment; dysarthria" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "childhood apraxia of speech" "" "" ""
"0000220897" "04293" "00287160" "00091" "Unknown" "51y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000220898" "04293" "00287161" "00091" "Unknown" "18y" "" "03y" "" "" "" "loss progressive" "" "" "" "" "" "" "" "" "" "" "" "OD abnormal;OS abnormal" "" "dyschromatopsia" "" "" "" "" ""
"0000220899" "04293" "00287162" "00091" "Unknown" "47y" "Optic disc pallor (HP:0000543)" "" "" "" "" "loss progressive" "" "" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.7 LogMAR" "diffuse;temporal" "" "" "" "" "" ""
"0000220900" "04293" "00287163" "00091" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000222915" "00198" "00289284" "01164" "Unknown" "" "Visual field defect (HP:0001123); Abnormal eye physiology (HP:0012373); Abnormality of the anterior segment of the eye (HP:0004328); Visual impairment (HP:0000505); Abnormality of the optic nerve (HP:0000587); Central scotoma (HP:0000603); Optic atrophy (HP:0000648); Aplasia/Hypoplasia of the lens (HP:0008063)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223152" "00198" "00295587" "01164" "Unknown" "" "Abnormality of the fundus (HP:0001098); Optic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223158" "00198" "00295593" "01164" "Unknown" "" "Leber optic atrophy (HP:0001112); Hyperreflexia (HP:0001347)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223387" "00198" "00295911" "01164" "Unknown" "" "Abnormality of the eye (HP:0000478); Abnormality of vision (HP:0000504)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223406" "00198" "00295930" "01164" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223450" "00198" "00295983" "01164" "Unknown" "" "Abnormality of the optic disc (HP:0012795); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223809" "00198" "00296395" "01164" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000224243" "00198" "00296846" "01164" "Unknown" "" "Optic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000224251" "00198" "00296854" "01164" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000224253" "00198" "00296856" "01164" "Unknown" "" "Optic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000226737" "04293" "00299426" "00091" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.2 LogMAR;OS 0.2 LogMAR" "temporal" "" "" "" "" "" ""
"0000226738" "04293" "00299427" "00091" "Familial, autosomal dominant" "64y" "Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673).\r\nOptic atrophy in brother, mother and maternal grandfather; evocative visual field and fundus." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 0.8 LogMAR;OS 0.8 LogMAR" "" "" "" "" "" "" ""
"0000226739" "04293" "00299428" "00091" "Unknown" "48y" "Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000226740" "04293" "00299429" "00091" "Familial, autosomal dominant" "59y" "Autosomal Dominant Optic Atrophy, Classic Form (ORPHA:98673); Type II diabetes mellitus (HP:0005978); Peripheral neuropathy (HP:0009830).\r\nOptical atrophy in mother and paternal grandfather." "25y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 1.3 LogMAR" "" "" "" "" "" "" ""
"0000228355" "04293" "00301050" "00091" "Familial, autosomal dominant" "79y" "" "" "" "" "" "" "" "" "50y" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR;OS 0.7 LogMAR" "" "dyschromatopsia" "" "" "" "" ""
"0000228356" "04293" "00301051" "00091" "Familial, autosomal dominant" "" "" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OD 1.0 LogMAR;OS 0.9 LogMAR" "diffuse" "" "" "" "" "" ""
"0000228395" "00198" "00301090" "01164" "Unknown" "" "Abnormality of vision (HP:0000504); Visual loss (HP:0000572)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000228571" "00198" "00301393" "01164" "Unknown" "" "Abnormality of the eye (HP:0000478); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232093" "00198" "00306247" "01807" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000233074" "04293" "00307273" "00091" "Familial, autosomal dominant" "50y" "Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Retinal atrophy (HP:0001105)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000233075" "04293" "00307274" "00091" "Unknown" "20y" "Progressive visual loss (HP:0000529); Moderately reduced visual acuity (HP:0030515)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000233076" "04293" "00307275" "00091" "Familial, autosomal dominant" "36y" "Moderately reduced visual acuity (HP:0030515); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641)" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000233260" "00198" "00307700" "01164" "Unknown" "" "Optic atrophy (HP:0000648); Abnormality of the eye (HP:0000478)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236437" "00198" "00311184" "01164" "Unknown" "" "Optic atrophy (HP:0000648); Visual impairment (HP:0000505)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000241766" "01477" "00317982" "01164" "Unknown" "" "Optic atrophy, positive family history, suspicion of AD inheritance" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000243039" "05684" "00324496" "00091" "Familial, autosomal dominant" "33y" "Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000243040" "05684" "00324497" "00091" "Familial, autosomal dominant" "58y" "Optic atrophy (HP:0000648); Reduced OCT-measured macular thickness (HP:0030607); Childhood onset (HP:0011463); Severe (HP:0012828)" "03y?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000243058" "05684" "00324515" "00091" "Familial, autosomal dominant" "34y" "Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Abnormal optical coherence tomography (HP:0030603); Scotoma (HP:0000575); Ocular pain (HP:0200026); Headache (HP:0002315); Profound (HP:0012829)\r\n------ \r\nSensation de corps étranger intra-oculaire\r\nSd tétrapyramidal\r\nIRM cérébrale : multiples hypersignaux de la substance blanche compatible avec une pathologie démyelinisante\r\nIRM médullaire : nombreux hypersignaux du cordon médullaire\r\nLCR évocatrice d’une synthèse intrathécale d’immunoglobulines\r\nAtaxie proprioceptive modérée\r\nDéficit moteur modéré mb inf\r\nFatigabilité des membres inférieurs\r\nParesthésies membres inférieurs et supérieurs\r\nDouleurs articulaires\r\n \r\nElévation modérée de l’alanine plasmatique sinon CAA et CAO\r\nLégère hyperlactatidémie\r\nHyperprolactinémie modérée (pas d’adénome à l’IRM)\r\nFoie, CPK, ECG normaux" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000245281" "05684" "00326818" "00091" "Unknown" "15y" "Optic disc pallor (HP:0000543); Abnormal retinal nerve fiber layer morphology (HP:0020119); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000245400" "05684" "00326936" "00091" "Unknown" "30y" "Optic neuropathy (HP:0001138)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000245402" "05684" "00326938" "00091" "Unknown" "23y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000245784" "05684" "00327503" "00091" "Unknown" "" "Optic neuropathy (HP:0001138); Optic atrophy (HP:0000648); Rapidly progressive (HP:0003678); Laterality (HP:0012831)" "" "" "" "" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000246581" "04214" "00328355" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "" ""
"0000246607" "04214" "00328381" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "" ""
"0000250737" "04214" "00332549" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "pericentral retinitis pigmentosa" "" "" ""
"0000251952" "04214" "00333768" "00000" "Familial, autosomal dominant" "8y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy v Stargardt" "" "" ""
"0000251953" "04214" "00333769" "00000" "Familial, autosomal dominant" "10y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000251954" "04214" "00333770" "00000" "Familial, autosomal dominant" "21y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000251955" "04214" "00333771" "00000" "Familial, autosomal dominant" "28y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy v blue cone monochromacy v achromatopsia" "" "" ""
"0000251956" "04214" "00333772" "00000" "Familial, autosomal dominant" "49y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000251957" "04214" "00333773" "00000" "Familial, autosomal dominant" "51y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000251958" "04214" "00333774" "00000" "Familial, autosomal dominant" "17y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000251959" "04214" "00333775" "00000" "Familial, autosomal dominant" "26y" "clinical category IIIC1a" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000252571" "00198" "00334508" "01807" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000252846" "00198" "00335131" "00000" "Familial, autosomal dominant" "" "42y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000254699" "00198" "00359457" "01807" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254743" "01477" "00359493" "04026" "Familial, autosomal dominant" "10y" "" "" "" "?" "" "acuity reduced" "" "10y" "Autosomal dominant optic atrophy" "" "" "" "" "" "?" "OS RNFL two or more" "" "OD 0.3 LogMAR" "" "?" "Autosomal dominant optic atrophy" "Optic atrophy" "?" "" ""
"0000254744" "04293" "00359494" "04026" "Familial, autosomal recessive" "15y" "" "" "" "?" "" "acuity reduced" "" "15y" "" "" "" "" "" "" "" "OS GCL thinner" "?" "OD 0.1 LogMAR" "" "?" "Autosomal recessive optic atrophy" "Optic atrophy" "" "" ""
"0000254747" "01477" "00359503" "04026" "Unknown" "07y" "" "" "" "?" "" "" "" "07y" "" "" "" "" "" "" "" "" "" "OD 0.5 LogMAR" "" "?" "" "" "" "" ""
"0000254748" "01477" "00359504" "04026" "Unknown" "07y" "" "" "" "" "" "" "" "07y" "" "" "" "" "" "" "" "" "" "OD 0.3 LogMAR" "" "" "" "" "" "" ""
"0000254781" "01477" "00359528" "04026" "Familial, autosomal dominant" "09y" "" "" "" "" "" "" "" "09y" "" "" "" "" "" "" "" "OS RNFL two or more" "" "OD 0.2 LogMAR" "" "?" "" "" "" "" ""
"0000254782" "04293" "00359529" "04026" "Unknown" "11y" "" "" "" "?" "" "acuity reduced" "" "11y" "" "" "" "" "" "" "" "" "" "OD 0.2 LogMAR" "" "" "" "" "" "" ""
"0000254783" "01477" "00359530" "04026" "Isolated (sporadic)" "09y" "" "" "" "" "" "" "" "09y" "" "" "" "" "" "" "normal" "OS RNFL two or more" "pericentral" "OD 0.2 LogMAR" "" "" "" "" "" "" ""
"0000254784" "01477" "00359531" "04026" "Familial, autosomal dominant" "05y" "" "" "" "" "" "" "" "05y" "" "" "" "" "" "" "" "OS RNFL two or more" "pericentral" "OS 0.1 LogMAR" "" "" "" "" "" "" ""
"0000254785" "01477" "00359532" "04026" "Familial, autosomal dominant" "06y" "" "" "" "" "" "" "" "06y" "" "" "" "" "" "" "" "" "" "OS 0.1 LogMAR" "" "" "" "" "" "" ""
"0000254786" "01477" "00359533" "04026" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OS 0.6 LogMAR" "" "" "" "" "" "" ""
"0000254787" "01477" "00359534" "04026" "Familial, autosomal dominant" "05y" "" "" "" "" "" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254788" "01477" "00359535" "04026" "Isolated (sporadic)" "02y" "" "" "" "" "" "" "" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254789" "01477" "00359536" "04026" "Unknown" "27y" "" "" "" "" "" "" "" "27y" "" "" "" "" "" "" "" "" "" "OS 0.2 LogMAR" "" "" "" "Optic atrophy" "" "" ""
"0000254790" "01477" "00359537" "04026" "Unknown" "13y" "" "" "" "" "" "" "" "13y" "Optic atrophy" "" "" "" "" "" "normal" "OS RNFL two or more" "" "OS 0.6 LogMAR" "" "" "" "" "" "" ""
"0000254791" "01477" "00359538" "04026" "Isolated (sporadic)" "06y" "" "" "" "" "" "" "" "06y" "Optic atrophy" "" "" "" "" "" "" "OS RNFL two or more" "" "OS 0.3 LogMAR" "" "" "" "" "" "" ""
"0000254792" "04293" "00359539" "04026" "Unknown" "03y" "" "" "" "" "" "acuity reduced" "" "03y" "" "" "" "" "" "" "?" "OD GCL ?" "" "" "" "" "" "Optic atrophy" "" "" ""
"0000254793" "01477" "00359540" "04026" "Familial, autosomal dominant" "06y" "" "" "" "" "" "" "" "06y" "Autosomal dominant optic atrophy" "" "" "" "" "" "" "OS RNFL two or more" "" "OS 0.1 LogMAR" "" "" "" "Optic atrophy" "" "" ""
"0000254794" "01477" "00359543" "04026" "Familial, autosomal dominant" "21y" "" "" "" "" "" "acuity reduced" "" "21y" "" "" "" "" "" "" "normal" "OS RNFL two or more" "" "OS 0.1 LogMAR" "" "" "Autosomal dominant optic atrophy" "Optic atrophy" "" "" ""
"0000254795" "01477" "00359544" "04026" "Familial, autosomal dominant" "04y" "" "" "" "" "" "" "" "04y" "" "" "" "" "" "" "normal" "OS RNFL two or more" "" "OD ?" "" "" "Autosomal dominant optic atrophy" "Optic atrophy" "" "" ""
"0000254824" "01477" "00359571" "04026" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OS RNFL two or more" "" "OS 0.4 LogMAR" "" "" "" "Optic atrophy" "" "" ""
"0000254825" "01477" "00359572" "04026" "Unknown" "19y" "" "" "" "" "" "" "" "19y" "" "" "" "" "" "" "" "OS RNFL two or more" "" "OS 0.1 LogMAR" "" "" "" "Optic atrophy" "" "" ""
"0000258730" "04214" "00363365" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "" ""
"0000258752" "04214" "00363387" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "" ""
"0000259161" "04267" "00363814" "00000" "Isolated (sporadic)" "75y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "normal tension glaucoma" "" "" ""
"0000259162" "04267" "00363815" "00000" "Isolated (sporadic)" "40y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "" ""
"0000259163" "04267" "00363816" "00000" "Isolated (sporadic)" "58y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "primary angle‐closure glaucoma" "" "" ""
"0000259229" "05684" "00363890" "00091" "Unknown" "26y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000267892" "00198" "00372579" "01807" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000270008" "00198" "00374798" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ataxia" "" "" ""
"0000270103" "05684" "00374893" "00091" "Unknown" "19y" "Optic atrophy (HP:0000648); Progressive (HP:0003676); Reduced visual acuity (HP:0007663)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000270474" "05684" "00375263" "00091" "Unknown" "32y" "Severely reduced visual acuity (HP:0001141)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000270475" "05684" "00375264" "00091" "Unknown" "28y" "Optic neuritis (HP:0100653); Mildly reduced visual acuity (HP:0032037); Sudden loss of visual acuity (HP:0001117)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000271372" "05684" "00376161" "00091" "Unknown" "25y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000271373" "05684" "00376162" "00091" "Unknown" "37y" "Centrocecal scotoma (HP:0000576); Abnormal retinal nerve fiber layer morphology (HP:0020119); Optic disc pallor (HP:0000543); Severely reduced visual acuity (HP:0001141); Congenital onset (HP:0003577)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000273301" "04214" "00379428" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "" ""
"0000273321" "04214" "00379448" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "" ""
"0000274004" "04293" "00380149" "03508" "Familial, autosomal dominant" "" "HP:0032037,\tHP:0000648" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "atrophy, optic (OPA)" "" "" ""
"0000278015" "01477" "00384230" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278028" "01477" "00384243" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "" ""
"0000278047" "01477" "00384262" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278051" "01477" "00384266" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy?" "" "" ""
"0000278058" "01477" "00384273" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278064" "01477" "00384279" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278074" "01477" "00384289" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278111" "01477" "00384326" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Low vision" "" "" ""
"0000278152" "01477" "00384367" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278153" "01477" "00384368" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Low vision" "" "" ""
"0000278226" "01477" "00384441" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278227" "01477" "00384442" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy" "" "" ""
"0000278243" "01477" "00384458" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optical atrophy+retinal detachment" "" "" ""
"0000280724" "04214" "00386925" "00006" "Familial, autosomal dominant" "56y" "see paper; ..." "" "" "" "" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "" ""
"0000281241" "04214" "00387678" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Autosomal dominant optic atrophy" "Other" "" "" ""
"0000282124" "04214" "00388584" "00000" "Familial, autosomal dominant" "" "Non‐syndrom" "" "" "" "" "" "" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "Optic atrophy 1 Optic atrophy plus syndrome" "Optical and macular atrophy" "" "" ""
"0000283866" "04214" "00390328" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "" ""
"0000283867" "04214" "00390329" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "" ""
"0000284254" "04214" "00390766" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000284276" "04214" "00390788" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000284278" "04214" "00390790" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000284279" "04214" "00390791" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000284285" "04214" "00390797" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dominant optic atrophy" "" "" ""
"0000284438" "04214" "00390950" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "" ""
"0000284442" "04214" "00390954" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "" ""
"0000284474" "04214" "00390986" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "" ""
"0000287575" "04214" "00394371" "00000" "Familial, autosomal dominant" "" "Atrophy of the optic nerve. Reduced visual acuity from 24 y, normal electroretinogram" "24y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" "" ""
"0000289644" "04214" "00396483" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Optic Atrophy" "" "" "" ""
"0000296670" "05684" "00404078" "00091" "Familial, autosomal dominant" "16y" "Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Central scotoma (HP:0000603); Moderately reduced visual acuity (HP:0030515); Retinal thinning (HP:0030329); Family history (HP:0032316)" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296671" "05684" "00404079" "00091" "Unknown" "20y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296672" "05684" "00404080" "00091" "Unknown" "43y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296673" "05684" "00404081" "00091" "Unknown" "32y" "Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Abnormal retinal nerve fiber layer morphology (HP:0020119); Dyschromatopsia (HP:0007641); Reduced visual acuity (HP:0007663)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296674" "05684" "00404082" "00091" "Familial" "38y" "Optic atrophy (HP:0000648); Family history (HP:0032316)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296675" "05684" "00404083" "00091" "Unknown" "11y" "Optic atrophy (HP:0000648); Optic disc pallor (HP:0000543); Reduced visual acuity (HP:0007663); Abnormality of the basal ganglia (HP:0002134)" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296676" "05684" "00404088" "00091" "Unknown" "12y" "Optic atrophy (HP:0000648); Moderately reduced visual acuity (HP:0030515); Progressive (HP:0003676)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296677" "05684" "00404089" "00091" "Familial, autosomal dominant" "57y" "Optic atrophy (HP:0000648); Family history (HP:0032316)" "" "" "" "" "" "" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296678" "05684" "00404090" "00091" "Isolated (sporadic)" "14y" "Optic atrophy (HP:0000648); Reduced visual acuity (HP:0007663); Dyschromatopsia (HP:0007641); Myopia (HP:0000545); Sporadic (HP:0003745)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000296683" "05684" "00404095" "00091" "Familial, autosomal dominant" "48y" "Optic atrophy (HP:0000648); Family history (HP:0032316); Moderately reduced visual acuity (HP:0030515); Dyschromatopsia (HP:0007641)" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000306659" "04293" "00414858" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306660" "04293" "00414859" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306661" "04293" "00414860" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306662" "04293" "00414861" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306663" "04293" "00414862" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306664" "04293" "00414863" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306665" "04293" "00414864" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306666" "04293" "00414865" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306667" "04293" "00414866" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306668" "04293" "00414867" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306669" "04293" "00414868" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306670" "04293" "00414869" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306671" "04293" "00414870" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306672" "04293" "00414871" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306673" "04293" "00414872" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306674" "04293" "00414873" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306675" "04293" "00414874" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306676" "04293" "00414875" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306677" "04293" "00414876" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306678" "04293" "00414877" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306679" "04293" "00414878" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306680" "04293" "00414879" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306681" "04293" "00414880" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306682" "04293" "00414881" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306683" "04293" "00414882" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306684" "04293" "00414883" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306685" "04293" "00414884" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306686" "04293" "00414885" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306687" "04293" "00414886" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306688" "04293" "00414887" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306689" "04293" "00414888" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306690" "04293" "00414889" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306691" "04293" "00414890" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306692" "04293" "00414891" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306693" "04293" "00414892" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306694" "04293" "00414893" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306695" "04293" "00414894" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306696" "04293" "00414895" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306697" "04293" "00414896" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306698" "04293" "00414897" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306699" "04293" "00414898" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306700" "04293" "00414899" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306701" "04293" "00414900" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306702" "04293" "00414901" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306703" "04293" "00414902" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306704" "04293" "00414903" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306705" "04293" "00414904" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306706" "04293" "00414905" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306707" "04293" "00414906" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306708" "04293" "00414907" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306709" "04293" "00414908" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306710" "04293" "00414909" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306711" "04293" "00414910" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306712" "04293" "00414911" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306713" "04293" "00414912" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306714" "04293" "00414913" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306715" "04293" "00414914" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306716" "04293" "00414915" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306717" "04293" "00414916" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306718" "04293" "00414917" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306719" "04293" "00414918" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306720" "04293" "00414919" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306721" "04293" "00414920" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306722" "04293" "00414921" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306723" "04293" "00414922" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306724" "04293" "00414923" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306725" "04293" "00414924" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306726" "04293" "00414925" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306727" "04293" "00414926" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306728" "04293" "00414927" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306729" "04293" "00414928" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306730" "04293" "00414929" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306731" "04293" "00414930" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306732" "04293" "00414931" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306733" "04293" "00414932" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306734" "04293" "00414933" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306735" "04293" "00414934" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306736" "04293" "00414935" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306737" "04293" "00414936" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306738" "04293" "00414937" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306739" "04293" "00414938" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306740" "04293" "00414939" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306741" "04293" "00414940" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306742" "04293" "00414941" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306743" "04293" "00414942" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306744" "04293" "00414943" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306745" "04293" "00414944" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306746" "04293" "00414945" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306747" "04293" "00414946" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306748" "04293" "00414947" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306749" "04293" "00414948" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306750" "04293" "00414949" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306751" "04293" "00414950" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306752" "04293" "00414951" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306753" "04293" "00414952" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306754" "04293" "00414953" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306755" "04293" "00414954" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306756" "04293" "00414955" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306757" "04293" "00414956" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306758" "04293" "00414957" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306759" "04293" "00414958" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306760" "04293" "00414959" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306761" "04293" "00414960" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306762" "04293" "00414961" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306763" "04293" "00414962" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306764" "04293" "00414963" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306765" "04293" "00414964" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306766" "04293" "00414965" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306767" "04293" "00414966" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306768" "04293" "00414967" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306769" "04293" "00414968" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306770" "04293" "00414969" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306771" "04293" "00414970" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306772" "04293" "00414971" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306773" "04293" "00414972" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306774" "04293" "00414973" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306775" "04293" "00414974" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306776" "04293" "00414975" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306777" "04293" "00414976" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306778" "04293" "00414977" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306779" "04293" "00414978" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306780" "04293" "00414979" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306781" "04293" "00414980" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306782" "04293" "00414981" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306783" "04293" "00414982" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306784" "04293" "00414983" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306785" "04293" "00414984" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306786" "04293" "00414985" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306787" "04293" "00414986" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306788" "04293" "00414987" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306789" "04293" "00414988" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306790" "04293" "00414989" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306791" "04293" "00414990" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306792" "04293" "00414991" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306793" "04293" "00414992" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306794" "04293" "00414993" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306795" "04293" "00414994" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306796" "04293" "00414995" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306797" "04293" "00414996" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306798" "04293" "00414997" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306799" "04293" "00414998" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306800" "04293" "00414999" "00006" "Familial, autosomal dominant" "" "see paper; ..., bilateral slowly progressive vision loss" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306801" "04293" "00415000" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306802" "04293" "00415001" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306803" "04293" "00415002" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306804" "04293" "00415003" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306805" "04293" "00415004" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306806" "04293" "00415005" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306807" "04293" "00415006" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306808" "04293" "00415007" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306809" "04293" "00415008" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306810" "04293" "00415009" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306811" "04293" "00415010" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306812" "04293" "00415011" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306813" "04293" "00415012" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306814" "04293" "00415013" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306815" "04293" "00415014" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306816" "04293" "00415015" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306817" "04293" "00415016" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306818" "04293" "00415017" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306819" "04293" "00415018" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306820" "04293" "00415019" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306821" "04293" "00415020" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306822" "04293" "00415021" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306823" "04293" "00415022" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306824" "04293" "00415023" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306825" "04293" "00415024" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306826" "04293" "00415025" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306827" "04293" "00415026" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306828" "04293" "00415027" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306829" "04293" "00415028" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306830" "04293" "00415029" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306831" "04293" "00415030" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306832" "04293" "00415031" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306833" "04293" "00415032" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306834" "04293" "00415033" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306835" "04293" "00415034" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306836" "04293" "00415035" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306837" "04293" "00415036" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306838" "04293" "00415037" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306839" "04293" "00415038" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306840" "04293" "00415039" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306841" "04293" "00415040" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306842" "04293" "00415041" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306843" "04293" "00415042" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306844" "04293" "00415043" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000306845" "04293" "00415044" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "" ""
"0000310848" "00198" "00419567" "02300" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ocular/auditory abnormality" "" "" ""
"0000322402" "02087" "00431833" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000322442" "02087" "00431874" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000325749" "05611" "00435562" "00006" "Isolated (sporadic)" "14y5m" "see paper; ..., forceps and vaccum-assisted delivery; birth at term; language/speech delay, 19-24m-first words; fine motor delay, 18m-first steps; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 10y-MRI brain normal; joint hypermobility knees (left 19 and right 25 degrees); no syndactyly; no vertebral abnormalities; clinodactyly 4th/5th toes; pectus excavatum; facial asymmetry secondary to positional plagiocephaly, closely spaced elanguage/speech delay (3%ile inner canthal measurement), multiple hair whorls with frontal upsweep of hair, large ears (97%ile), thin upper lip, broad chin, high-arched palate; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; 3 sets of pressure equalizer (PE) tubes; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity but soft skin; slight extension edge scrotum to lateral base penis, but not surrounding (not a shawl scrotum); no cryptorchidism; retained primary dentition;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "" ""
"0000326854" "00038" "00436739" "03780" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 1069
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000036489" "00036419" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036490" "00036420" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036491" "00036421" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036492" "00036422" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036493" "00036423" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036494" "00036424" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036495" "00036425" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036496" "00036426" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036497" "00036427" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036498" "00036428" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036499" "00036429" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036500" "00036430" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036501" "00036431" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036502" "00036432" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036503" "00036433" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036504" "00036434" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036505" "00036435" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036506" "00036436" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036507" "00036437" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036508" "00036438" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036509" "00036439" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036510" "00036440" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000054823" "00054871" "1" "01479" "01479" "2015-11-30 16:08:09" "" "" "SEQ-NG" "DNA" "" ""
"0000054827" "00054875" "1" "01479" "01479" "2015-11-30 16:23:43" "" "" "SEQ-NG" "DNA" "" ""
"0000080952" "00080840" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000104434" "00103965" "1" "01164" "01164" "2017-04-27 10:40:23" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000105492" "00105018" "1" "01244" "01244" "2017-06-15 13:24:36" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000105895" "00105424" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105896" "00105425" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105897" "00105426" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105898" "00105427" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105899" "00105428" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105900" "00105429" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-10-23 17:34:48" "SEQ" "DNA" "Blood" ""
"0000105901" "00105430" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105902" "00105431" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105903" "00105432" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105904" "00105433" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105905" "00105434" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105906" "00105435" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105907" "00105436" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105908" "00105437" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105909" "00105438" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105910" "00105439" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2017-03-22 11:34:21" "SEQ" "DNA" "Blood" ""
"0000105911" "00105440" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105912" "00105441" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105913" "00105442" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105914" "00105443" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105915" "00105444" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105916" "00105445" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105917" "00105446" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105918" "00105447" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105919" "00105448" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105920" "00105449" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105921" "00105450" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105922" "00105451" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105923" "00105452" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105924" "00105453" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105925" "00105454" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105926" "00105455" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105927" "00105456" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105928" "00105457" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105929" "00105458" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105930" "00105459" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105931" "00105460" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105932" "00105461" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105933" "00105462" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105934" "00105463" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105935" "00105464" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105936" "00105465" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105937" "00105466" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105938" "00105467" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105939" "00105468" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105940" "00105469" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105941" "00105470" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105942" "00105471" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105943" "00105472" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105944" "00105473" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105945" "00105474" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105946" "00105475" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105947" "00105476" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105948" "00105477" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105949" "00105478" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105950" "00105479" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105951" "00105480" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105952" "00105481" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105953" "00105482" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105954" "00105483" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105955" "00105484" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105956" "00105485" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105957" "00105486" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105958" "00105487" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105959" "00105488" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105960" "00105489" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105961" "00105490" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105962" "00105491" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105963" "00105492" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105964" "00105493" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105965" "00105494" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105966" "00105495" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105967" "00105496" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105968" "00105497" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105969" "00105498" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105970" "00105499" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105971" "00105500" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105972" "00105501" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105973" "00105502" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105974" "00105503" "1" "00091" "00091" "2013-04-19 20:30:33" "00091" "2013-04-19 20:30:33" "SEQ" "DNA" "Blood" ""
"0000105975" "00105504" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105976" "00105505" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105977" "00105506" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105978" "00105507" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105979" "00105508" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105980" "00105509" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105981" "00105510" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105982" "00105511" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105983" "00105512" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105984" "00105513" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105985" "00105514" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105986" "00105515" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105987" "00105516" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105988" "00105517" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105989" "00105518" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105990" "00105519" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105991" "00105520" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105992" "00105521" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105993" "00105522" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105994" "00105523" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2014-01-10 00:18:31" "SEQ" "DNA" "Blood" ""
"0000105995" "00105524" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105996" "00105525" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105997" "00105526" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105998" "00105527" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000105999" "00105528" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106000" "00105529" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106001" "00105530" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106002" "00105531" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106003" "00105532" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106004" "00105533" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106005" "00105534" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106006" "00105535" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106007" "00105536" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106008" "00105537" "1" "00091" "00091" "2004-09-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106009" "00105538" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106010" "00105539" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106011" "00105540" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106012" "00105541" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106013" "00105542" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106014" "00105543" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106015" "00105544" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106016" "00105545" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106017" "00105546" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106018" "00105547" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106019" "00105548" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106020" "00105549" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106021" "00105550" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106022" "00105551" "1" "00091" "00091" "2005-09-20 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106023" "00105552" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106024" "00105553" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106025" "00105554" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106026" "00105555" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106027" "00105556" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106028" "00105557" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106029" "00105558" "1" "00091" "00091" "2005-09-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106030" "00105559" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106031" "00105560" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106032" "00105561" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106033" "00105562" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106034" "00105563" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106035" "00105564" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106036" "00105565" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106037" "00105566" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106038" "00105567" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106039" "00105568" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106040" "00105569" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106041" "00105570" "1" "00091" "00091" "2006-05-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106042" "00105571" "1" "00091" "00091" "2006-06-06 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106043" "00105572" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106044" "00105573" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106045" "00105574" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106046" "00105575" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106047" "00105576" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106048" "00105577" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106049" "00105578" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106050" "00105579" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106051" "00105580" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106052" "00105581" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106053" "00105582" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106054" "00105583" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106055" "00105584" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106056" "00105585" "1" "00091" "00091" "2006-06-23 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106057" "00105586" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106058" "00105587" "1" "02104" "02104" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106059" "00105588" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106060" "00105589" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106061" "00105590" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106062" "00105591" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106063" "00105592" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106064" "00105593" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106065" "00105594" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106066" "00105595" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2014-01-10 00:18:31" "SEQ" "DNA" "Blood" ""
"0000106067" "00105596" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106068" "00105597" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106069" "00105598" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106070" "00105599" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106071" "00105600" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106072" "00105601" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106073" "00105602" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106074" "00105603" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106075" "00105604" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106076" "00105605" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106077" "00105606" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106078" "00105607" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106079" "00105608" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106080" "00105609" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106081" "00105610" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106082" "00105611" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106083" "00105612" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106084" "00105613" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106085" "00105614" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106086" "00105615" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106087" "00105616" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2017-03-24 15:14:55" "SEQ" "DNA" "Blood" ""
"0000106088" "00105617" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106089" "00105618" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106090" "00105619" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106091" "00105620" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106092" "00105621" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106093" "00105622" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106094" "00105623" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106095" "00105624" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106096" "00105625" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106097" "00105626" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106098" "00105627" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106099" "00105628" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106100" "00105629" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106101" "00105630" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106102" "00105631" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106103" "00105632" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106104" "00105633" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106105" "00105634" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106106" "00105635" "1" "00091" "00091" "2006-07-26 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106107" "00105636" "1" "00091" "00091" "2006-08-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106108" "00105637" "1" "00091" "00091" "2006-08-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106109" "00105638" "1" "00091" "00091" "2006-08-29 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106110" "00105639" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106111" "00105640" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106112" "00105641" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106113" "00105642" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106114" "00105643" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106115" "00105644" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106116" "00105645" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106117" "00105646" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106118" "00105647" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106119" "00105648" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106120" "00105649" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106121" "00105650" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106122" "00105651" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106123" "00105652" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106124" "00105653" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106125" "00105654" "1" "00091" "00091" "2008-06-10 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106126" "00105655" "1" "02105" "02105" "2008-09-15 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106127" "00105656" "1" "00091" "00091" "2008-09-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106128" "00105657" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106129" "00105658" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106130" "00105659" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106131" "00105660" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106132" "00105661" "1" "00091" "00091" "2008-11-04 00:00:00" "00091" "2017-03-24 16:13:03" "SEQ" "DNA" "Blood" ""
"0000106133" "00105662" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106134" "00105663" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106135" "00105664" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106136" "00105665" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106137" "00105666" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106138" "00105667" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106139" "00105668" "1" "00091" "00091" "2008-10-22 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106140" "00105669" "1" "00091" "00091" "2008-11-14 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106141" "00105670" "1" "00091" "00091" "2008-11-14 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106142" "00105671" "1" "00091" "00091" "2008-11-14 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106143" "00105672" "1" "00091" "00091" "2009-09-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106144" "00105673" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106145" "00105674" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106146" "00105675" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106147" "00105676" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106148" "00105677" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106149" "00105678" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106150" "00105679" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106151" "00105680" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106152" "00105681" "1" "00091" "00091" "2010-03-08 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106153" "00105682" "1" "00091" "00091" "2010-08-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106154" "00105683" "1" "00091" "00091" "2010-08-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106155" "00105684" "1" "00091" "00091" "2010-08-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106156" "00105685" "1" "00091" "00091" "2010-08-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106157" "00105686" "1" "00091" "00091" "2010-08-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106158" "00105687" "1" "00091" "00091" "2010-08-12 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106159" "00105688" "1" "00091" "00091" "2010-08-25 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106160" "00105689" "1" "00091" "00091" "2010-08-25 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106161" "00105690" "1" "00091" "00091" "2010-08-25 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106162" "00105691" "1" "00091" "00091" "2010-08-25 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106163" "00105692" "1" "00091" "00091" "2010-08-25 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106164" "00105693" "1" "01536" "01536" "2011-01-07 00:00:00" "00091" "2015-04-10 15:41:03" "SEQ" "DNA" "Blood" ""
"0000106165" "00105694" "1" "01536" "01536" "2011-01-07 00:00:00" "00091" "2015-12-28 10:12:31" "MLPA" "DNA" "Blood" ""
"0000106166" "00105695" "1" "01536" "01536" "2011-01-20 00:00:00" "00091" "2015-04-10 15:46:26" "SEQ" "DNA" "Blood" ""
"0000106167" "00105696" "1" "01536" "01536" "2011-01-20 00:00:00" "00091" "2015-04-10 15:33:18" "SEQ" "DNA" "Blood" ""
"0000106168" "00105697" "1" "01536" "01536" "2011-03-10 00:00:00" "00091" "2015-04-10 15:44:17" "SEQ" "DNA" "Blood" ""
"0000106169" "00105698" "1" "02106" "02106" "2011-04-05 00:00:00" "00091" "2012-08-16 00:00:00" "SEQ" "DNA" "Blood" ""
"0000106170" "00105699" "1" "01536" "01536" "2013-01-17 08:27:07" "00091" "2013-06-18 10:23:42" "SEQ" "DNA" "" ""
"0000106171" "00105700" "1" "01536" "01536" "2013-05-20 23:33:58" "00091" "2013-06-18 10:23:42" "MLPA" "DNA" "Blood" ""
"0000106172" "00105701" "1" "02108" "02108" "2013-08-20 16:22:40" "00091" "2014-07-29 09:02:27" "SEQ" "DNA" "Blood" ""
"0000106173" "00105702" "1" "02108" "02108" "2013-08-20 16:22:40" "00091" "2014-07-29 08:56:24" "CMC;PCR;SEQ" "DNA" "blood" ""
"0000106174" "00105703" "1" "02108" "02108" "2014-07-29 09:27:01" "00091" "2014-07-29 09:30:20" "SEQ" "DNA" "Blood" ""
"0000106175" "00105704" "1" "02108" "02108" "2014-07-29 09:30:08" "00091" "2014-07-29 09:30:20" "SEQ" "DNA" "Blood" ""
"0000106176" "00105705" "1" "02108" "02108" "2013-11-05 12:09:41" "00091" "2014-07-29 08:57:52" "CMC;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000106177" "00105706" "1" "02108" "02108" "2013-11-05 12:09:41" "00091" "2014-07-29 09:31:10" "CMC;PCR;SEQ" "DNA" "" ""
"0000106178" "00105707" "1" "02108" "02108" "2013-11-05 12:09:41" "00091" "2014-07-29 09:39:58" "CMC;PCR;SEQ" "DNA" "" ""
"0000106179" "00105708" "1" "02108" "02108" "2013-11-05 12:09:41" "00091" "2014-07-29 09:45:16" "CMC;PCR;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000106180" "00105709" "1" "02109" "02109" "2013-11-17 00:11:46" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106181" "00105710" "1" "02109" "02109" "2013-11-17 00:11:46" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106182" "00105711" "1" "02109" "02109" "2013-11-17 00:11:46" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106183" "00105712" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106184" "00105713" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2017-03-22 11:34:21" "SEQ" "DNA" "Blood" ""
"0000106185" "00105714" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2017-03-22 11:34:21" "SEQ" "DNA" "Blood" ""
"0000106186" "00105715" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2017-03-22 11:34:21" "SEQ" "DNA" "Blood" ""
"0000106187" "00105716" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-07-29 09:30:20" "SEQ" "DNA" "Blood" ""
"0000106188" "00105717" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106189" "00105718" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106190" "00105719" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106191" "00105720" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106192" "00105721" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106193" "00105722" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106194" "00105723" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106195" "00105724" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106196" "00105725" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106197" "00105726" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106198" "00105727" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106199" "00105728" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106200" "00105729" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106201" "00105730" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106202" "00105731" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106203" "00105732" "1" "02109" "02109" "2013-12-29 13:26:43" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106204" "00105733" "1" "02109" "02109" "2014-01-10 00:18:31" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106205" "00105734" "1" "02109" "02109" "2014-01-10 00:18:31" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106206" "00105735" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106207" "00105736" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106208" "00105737" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106209" "00105738" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106210" "00105739" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106211" "00105740" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106212" "00105741" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106213" "00105742" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106214" "00105743" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106215" "00105744" "1" "02109" "02109" "2014-06-07 08:02:24" "00091" "2017-03-22 11:34:46" "SEQ" "DNA" "Blood" ""
"0000106216" "00105745" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106217" "00105746" "1" "02109" "02109" "2014-01-20 09:45:52" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106218" "00105747" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106219" "00105748" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106220" "00105749" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106221" "00105750" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106222" "00105751" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106223" "00105752" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106224" "00105753" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106225" "00105754" "1" "02109" "02109" "2014-02-12 14:40:29" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106226" "00105755" "1" "02109" "02109" "2014-02-27 03:12:07" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106227" "00105756" "1" "02109" "02109" "2014-02-27 03:12:07" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106228" "00105757" "1" "02109" "02109" "2014-02-27 03:12:07" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106229" "00105758" "1" "02109" "02109" "2014-02-27 03:12:07" "00091" "2014-04-15 15:42:44" "SEQ" "DNA" "Blood" ""
"0000106230" "00105759" "1" "00091" "00091" "2014-04-06 19:27:39" "00091" "2014-04-06 19:27:39" "SEQ" "DNA" "Blood" ""
"0000106231" "00105760" "1" "02109" "02109" "2014-10-27 13:23:17" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106232" "00105761" "1" "02109" "02109" "2014-10-27 13:29:16" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106233" "00105762" "1" "02109" "02109" "2014-10-27 13:53:52" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106234" "00105763" "1" "02109" "02109" "2014-10-27 17:37:17" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106235" "00105764" "1" "02109" "02109" "2014-10-27 17:42:08" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106236" "00105765" "1" "02109" "02109" "2014-10-27 17:48:13" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106237" "00105766" "1" "02109" "02109" "2014-10-27 18:18:58" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106238" "00105767" "1" "02109" "02109" "2014-10-27 18:24:23" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106239" "00105768" "1" "02109" "02109" "2014-10-28 10:25:42" "00091" "2014-11-14 13:49:05" "SEQ" "DNA" "Blood" ""
"0000106240" "00105769" "1" "01536" "01536" "2015-02-14 16:18:47" "00091" "2015-04-08 11:30:32" "SEQ" "DNA" "" ""
"0000106241" "00105770" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2016-01-04 11:46:13" "SEQ" "DNA" "" ""
"0000106242" "00105771" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2015-04-08 11:39:48" "SEQ" "DNA" "" ""
"0000106243" "00105772" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2015-04-08 11:44:38" "SEQ" "DNA" "" ""
"0000106244" "00105773" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2015-12-28 10:21:33" "SEQ" "DNA" "" ""
"0000106245" "00105774" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2015-04-08 11:38:57" "SEQ" "DNA" "" ""
"0000106246" "00105775" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2015-04-08 11:11:05" "SEQ" "DNA" "" ""
"0000106247" "00105776" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2017-03-24 16:10:24" "SEQ" "DNA" "Blood" ""
"0000106248" "00105777" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2015-04-08 11:23:27" "SEQ" "DNA" "" ""
"0000106249" "00105778" "1" "01536" "01536" "2015-02-14 19:23:31" "00091" "2016-01-04 11:47:04" "SEQ" "DNA" "" ""
"0000106250" "00105779" "1" "01536" "01536" "2015-02-20 16:03:46" "00091" "2016-01-04 11:44:39" "SEQ" "DNA" "" ""
"0000106251" "00105780" "1" "01536" "01536" "2015-02-20 16:03:46" "00091" "2015-04-08 11:40:31" "SEQ" "DNA" "" ""
"0000106252" "00105781" "1" "01536" "01536" "2015-02-20 16:03:46" "00091" "2015-04-08 11:38:16" "SEQ" "DNA" "" ""
"0000106253" "00105782" "1" "01536" "01536" "2015-02-20 16:03:46" "00091" "2015-12-28 10:04:25" "SEQ" "DNA" "" ""
"0000106254" "00105783" "1" "01536" "01536" "2015-03-07 04:58:33" "00091" "2016-01-04 11:45:51" "SEQ" "DNA" "" ""
"0000106255" "00105784" "1" "01536" "01536" "2015-03-07 04:58:33" "00091" "2015-04-08 11:25:06" "SEQ" "DNA" "" ""
"0000106256" "00105785" "1" "01536" "01536" "2015-03-07 04:58:33" "00091" "2015-04-08 11:43:11" "SEQ" "DNA" "" ""
"0000106257" "00105786" "1" "01536" "01536" "2015-03-07 04:58:33" "00091" "2015-04-08 11:29:43" "SEQ" "DNA" "" ""
"0000106258" "00105787" "1" "01536" "01536" "2015-03-17 20:35:40" "00091" "2015-12-28 10:03:26" "SEQ" "DNA" "" ""
"0000106259" "00105788" "1" "01536" "01536" "2015-03-17 20:49:26" "00091" "2015-04-08 11:44:11" "SEQ" "DNA" "" ""
"0000106260" "00105789" "1" "01536" "01536" "2015-03-17 20:58:56" "00091" "2015-04-08 11:32:18" "SEQ" "DNA" "" ""
"0000106261" "00105790" "1" "01536" "01536" "2015-04-18 20:14:21" "00091" "2015-12-28 10:40:52" "SEQ" "DNA" "" ""
"0000106262" "00105791" "1" "01536" "01536" "2015-04-18 20:26:00" "00091" "2016-01-04 12:09:15" "SEQ" "DNA" "" ""
"0000106263" "00105792" "1" "01536" "01536" "2015-04-18 20:32:41" "00091" "2016-01-04 12:17:10" "SEQ" "DNA" "" ""
"0000106264" "00105793" "1" "01536" "01536" "2015-04-20 19:36:38" "00091" "2016-01-04 12:07:48" "SEQ" "DNA" "" ""
"0000106265" "00105794" "1" "01536" "01536" "2015-04-20 19:57:26" "00091" "2016-01-04 12:00:38" "SEQ" "DNA" "" ""
"0000106266" "00105795" "1" "01536" "01536" "2015-04-20 20:10:46" "00091" "2016-01-04 12:14:49" "SEQ" "DNA" "" ""
"0000106267" "00105796" "1" "01536" "01536" "2015-04-20 20:25:19" "00091" "2016-01-04 11:59:22" "SEQ" "DNA" "" ""
"0000106268" "00105797" "1" "01536" "01536" "2015-04-20 20:34:19" "00091" "2016-01-04 12:15:42" "SEQ" "DNA" "" ""
"0000106269" "00105798" "1" "01536" "01536" "2015-05-09 19:30:23" "00091" "2016-01-04 18:55:30" "MLPA" "DNA" "" ""
"0000106270" "00105799" "1" "01536" "01536" "2015-05-09 19:45:21" "00091" "2016-01-04 12:10:21" "SEQ" "DNA" "" ""
"0000106271" "00105800" "1" "01536" "01536" "2015-05-09 20:12:45" "00091" "2015-12-28 10:14:09" "SEQ" "DNA" "" ""
"0000106272" "00105801" "1" "01536" "01536" "2015-05-09 20:19:35" "00091" "2015-12-28 10:08:13" "MLPA" "DNA" "" ""
"0000106273" "00105802" "1" "01536" "01536" "2015-05-09 20:30:51" "00091" "2016-01-04 12:11:46" "SEQ" "DNA" "" ""
"0000106274" "00105803" "1" "01536" "01536" "2015-05-09 20:36:00" "00091" "2016-01-04 12:25:39" "SEQ" "DNA" "" ""
"0000106275" "00105804" "1" "01536" "01536" "2015-08-15 18:42:12" "00091" "2016-01-04 12:06:52" "SEQ" "DNA" "" ""
"0000106276" "00105805" "1" "01536" "01536" "2015-08-15 19:01:01" "00091" "2016-01-04 12:04:57" "SEQ" "DNA" "" ""
"0000106277" "00105806" "1" "01536" "01536" "2016-01-05 19:50:43" "00091" "2016-01-06 10:54:10" "MLPA" "DNA" "" ""
"0000106278" "00105807" "1" "02111" "02111" "2016-02-23 00:36:20" "00091" "2016-04-22 09:33:08" "SEQ" "DNA" "" ""
"0000106279" "00105808" "1" "02111" "02111" "2016-04-15 00:30:19" "00091" "2016-04-22 09:36:36" "SEQ" "DNA" "Blood" ""
"0000106280" "00105809" "1" "02112" "02112" "2016-08-19 13:39:00" "00091" "2017-03-22 15:51:34" "SEQ" "DNA" "" ""
"0000106281" "00105810" "1" "02112" "02112" "2016-08-19 13:44:56" "00091" "2017-03-22 15:52:06" "SEQ" "DNA" "" ""
"0000106282" "00105811" "1" "02112" "02112" "2016-08-19 13:47:21" "00091" "2017-03-22 15:52:39" "SEQ" "DNA" "" ""
"0000106283" "00105812" "1" "02112" "02112" "2016-08-19 13:49:10" "00091" "2017-03-22 15:53:13" "SEQ" "DNA" "" ""
"0000106284" "00105813" "1" "02112" "02112" "2016-08-19 13:52:25" "00091" "2017-03-22 15:53:37" "SEQ" "DNA" "" ""
"0000106285" "00105814" "1" "02112" "02112" "2016-08-19 13:55:42" "00091" "2017-03-22 15:54:14" "SEQ" "DNA" "" ""
"0000106286" "00105815" "1" "02112" "02112" "2016-08-19 13:57:29" "00091" "2017-03-22 15:54:45" "SEQ" "DNA" "" ""
"0000106287" "00105816" "1" "02112" "02112" "2017-03-22 11:31:53" "" "" "SEQ" "DNA" "Blood" ""
"0000106288" "00105817" "1" "02112" "02112" "2016-08-19 14:07:13" "00091" "2017-03-22 15:55:40" "SEQ" "DNA" "" ""
"0000106289" "00105818" "1" "02112" "02112" "2016-08-19 14:08:46" "00091" "2017-03-22 15:56:07" "SEQ" "DNA" "" ""
"0000106290" "00105819" "1" "00091" "00091" "2017-03-24 16:12:23" "00091" "2017-03-24 16:13:03" "SEQ" "DNA" "Blood" ""
"0000151036" "00150181" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000152687" "00151830" "1" "00006" "00006" "2018-01-26 16:03:40" "" "" "SEQ" "DNA" "" ""
"0000165395" "00164531" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165396" "00164532" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165397" "00164533" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165398" "00164534" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165399" "00164535" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165400" "00164536" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165401" "00164537" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165402" "00164538" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165403" "00164539" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165404" "00164540" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165405" "00164541" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165406" "00164542" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165407" "00164543" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165408" "00164544" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165409" "00164545" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165410" "00164546" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165411" "00164547" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165412" "00164548" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165413" "00164549" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165414" "00164550" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165415" "00164551" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165416" "00164552" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165417" "00164553" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165418" "00164554" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165419" "00164555" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165420" "00164556" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165421" "00164557" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165422" "00164558" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165423" "00164559" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165424" "00164560" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165425" "00164561" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165426" "00164562" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165427" "00164563" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165428" "00164564" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165429" "00164565" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165430" "00164566" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165431" "00164567" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165432" "00164568" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165433" "00164569" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165434" "00164570" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165435" "00164571" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165436" "00164572" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165437" "00164573" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165438" "00164574" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165439" "00164575" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165440" "00164576" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165441" "00164577" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165442" "00164578" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165443" "00164579" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165444" "00164580" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165445" "00164581" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165446" "00164582" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165447" "00164583" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165448" "00164584" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165449" "00164585" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165450" "00164586" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165451" "00164587" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165452" "00164588" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165453" "00164589" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165454" "00164590" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165455" "00164591" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165456" "00164592" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165457" "00164593" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165458" "00164594" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165459" "00164595" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165460" "00164596" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165461" "00164597" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165462" "00164598" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165463" "00164599" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165464" "00164600" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165465" "00164601" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165466" "00164602" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165467" "00164603" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165468" "00164604" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165469" "00164605" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165470" "00164606" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165471" "00164607" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165472" "00164608" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165473" "00164609" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165474" "00164610" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165475" "00164611" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165476" "00164612" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165477" "00164613" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165478" "00164614" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165479" "00164615" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165480" "00164616" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165481" "00164617" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000165482" "00164618" "1" "02411" "00091" "2018-06-01 18:39:38" "" "" "SEQ" "DNA" "Blood" ""
"0000181314" "00180377" "1" "02564" "02564" "2018-09-06 19:22:02" "" "" "SEQ" "DNA" "" ""
"0000181852" "00180915" "1" "02564" "02564" "2018-09-10 17:25:30" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181853" "00180916" "1" "02564" "02564" "2018-09-10 18:22:24" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181854" "00180917" "1" "02564" "02564" "2018-09-11 10:28:02" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181856" "00180918" "1" "02564" "02564" "2018-09-11 10:37:39" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181857" "00180919" "1" "02564" "02564" "2018-09-11 10:43:35" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181858" "00180920" "1" "02564" "02564" "2018-09-11 10:48:28" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181859" "00180921" "1" "02564" "02564" "2018-09-11 10:55:02" "" "" "arrayCGH" "DNA" "Peripheral blood" ""
"0000181860" "00180922" "1" "02564" "02564" "2018-09-11 11:14:04" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000181861" "00180923" "1" "02564" "02564" "2018-09-11 11:29:46" "" "" "SEQ" "DNA" "Blood" ""
"0000181862" "00180924" "1" "02564" "02564" "2018-09-11 12:13:28" "" "" "PCRq" "DNA" "" ""
"0000181863" "00180925" "1" "02564" "02564" "2018-09-11 12:31:31" "" "" "PCRq" "DNA" "" ""
"0000181864" "00180926" "1" "02564" "02564" "2018-09-11 12:37:50" "" "" "PCRq" "DNA" "" ""
"0000181865" "00180927" "1" "02564" "02564" "2018-09-12 08:58:37" "" "" "SEQ-NG-I" "DNA" "" ""
"0000181866" "00180889" "1" "02564" "02564" "2018-09-12 09:02:53" "" "" "SEQ" "DNA" "Blood" ""
"0000181867" "00180928" "1" "02564" "02564" "2018-09-12 09:25:31" "" "" "-" "DNA" "blood" ""
"0000181868" "00180929" "1" "02564" "02564" "2018-09-12 09:33:05" "" "" "-" "DNA" "blood" ""
"0000181869" "00180930" "1" "02564" "02564" "2018-09-12 09:36:46" "" "" "-" "DNA" "blood" ""
"0000181870" "00180931" "1" "02564" "02564" "2018-09-12 09:40:12" "" "" "-" "DNA" "blood" ""
"0000181871" "00180932" "1" "02564" "02564" "2018-09-12 10:01:11" "" "" "?" "DNA" "" ""
"0000181872" "00180933" "1" "02564" "02564" "2018-09-12 10:07:59" "" "" "?" "RNA" "" ""
"0000181873" "00180933" "1" "02564" "02564" "2018-09-12 10:11:46" "" "" "?" "DNA" "" ""
"0000181874" "00180934" "1" "02564" "02564" "2018-09-12 10:40:28" "" "" "?" "DNA" "" ""
"0000181890" "00180946" "1" "02564" "02564" "2018-09-16 17:18:04" "00091" "2018-09-26 12:08:13" "SEQ" "DNA" "Blood" ""
"0000181891" "00180947" "1" "02564" "02564" "2018-09-16 17:24:12" "00091" "2018-09-26 12:08:30" "SEQ" "DNA" "Blood" ""
"0000181892" "00180948" "1" "02564" "02564" "2018-09-16 17:30:36" "00091" "2018-09-26 12:07:47" "SEQ" "DNA" "Blood" ""
"0000181895" "00180951" "1" "02564" "02564" "2018-09-16 18:25:59" "" "" "SEQ" "DNA" "" ""
"0000181897" "00180952" "1" "02564" "02564" "2018-09-16 18:32:34" "" "" "SEQ" "DNA" "" ""
"0000181898" "00180953" "1" "02564" "02564" "2018-09-17 14:59:08" "" "" "?" "DNA" "" ""
"0000181899" "00180954" "1" "02564" "02564" "2018-09-17 15:20:56" "" "" "?" "DNA" "" ""
"0000181900" "00180955" "1" "02564" "02564" "2018-09-17 15:27:16" "" "" "?" "DNA" "" ""
"0000181901" "00180956" "1" "02564" "02564" "2018-09-17 15:32:23" "" "" "?" "DNA" "" ""
"0000181902" "00180957" "1" "02564" "02564" "2018-09-17 15:37:55" "" "" "SEQ-NG" "DNA" "" ""
"0000181903" "00180958" "1" "02564" "02564" "2018-09-17 15:44:06" "" "" "PCRdig" "DNA" "" ""
"0000181909" "00180962" "1" "02564" "02564" "2018-09-18 17:44:03" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000181910" "00180963" "1" "02564" "02564" "2018-09-18 17:49:47" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000181913" "00180964" "1" "02564" "02564" "2018-09-18 17:55:13" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000181914" "00180965" "1" "02564" "02564" "2018-09-18 18:01:22" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000181915" "00180966" "1" "02564" "02564" "2018-09-18 18:06:09" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000181917" "00180968" "1" "02564" "02564" "2018-09-18 18:16:04" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000181918" "00180969" "1" "02564" "02564" "2018-09-18 18:28:34" "" "" "PCRq" "DNA" "Peripheral blood" ""
"0000181919" "00180970" "1" "02564" "02564" "2018-09-18 18:35:36" "" "" "PCRq" "DNA" "Peripheral blood" ""
"0000181920" "00180971" "1" "02564" "02564" "2018-09-18 18:47:07" "" "" "?" "DNA" "" ""
"0000181962" "00180972" "1" "02564" "02564" "2018-09-20 17:53:53" "" "" "?" "DNA" "" ""
"0000181964" "00181016" "1" "02564" "02564" "2018-09-20 18:05:46" "" "" "?" "DNA" "" ""
"0000181967" "00181019" "1" "02564" "02564" "2018-09-20 18:32:24" "" "" "Western" "protein" "" ""
"0000181968" "00181020" "1" "02564" "02564" "2018-09-20 18:43:22" "" "" "?" "DNA" "" ""
"0000181969" "00181021" "1" "02564" "02564" "2018-09-20 18:48:57" "" "" "?" "DNA" "" ""
"0000181970" "00181022" "1" "02564" "02564" "2018-09-20 18:53:30" "" "" "?" "DNA" "" ""
"0000181971" "00181023" "1" "02564" "02564" "2018-09-20 18:55:51" "" "" "?" "DNA" "" ""
"0000181972" "00181024" "1" "02564" "02564" "2018-09-20 19:07:47" "" "" "?" "DNA" "" ""
"0000181974" "00181026" "1" "02564" "02564" "2018-09-20 20:06:41" "" "" "?" "DNA" "" ""
"0000182033" "00181084" "1" "02564" "00091" "2018-09-24 19:05:53" "" "" "SEQ" "DNA" "Blood" ""
"0000182045" "00180950" "1" "02564" "02564" "2018-09-25 19:20:02" "" "" "SEQ" "DNA" "Blood" ""
"0000182047" "00181095" "1" "02564" "00091" "2018-09-26 08:49:10" "00091" "2018-09-26 12:06:56" "SEQ" "DNA" "Blood" ""
"0000182049" "00180967" "1" "02564" "02564" "2018-09-26 12:34:56" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000182050" "00181097" "1" "02564" "00091" "2018-09-26 14:50:52" "" "" "SEQ" "DNA" "Peripheral blood" ""
"0000182359" "00181398" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182360" "00181399" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182361" "00181400" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182362" "00181401" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182363" "00181402" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182364" "00181403" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182365" "00181404" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182366" "00181405" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182367" "00181406" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182368" "00181407" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182369" "00181408" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182370" "00181409" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182371" "00181410" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182372" "00181411" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182373" "00181412" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182374" "00181413" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182375" "00181414" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182376" "00181415" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182377" "00181416" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182378" "00181417" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182379" "00181418" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182380" "00181419" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182381" "00181420" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182382" "00181421" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182383" "00181422" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182384" "00181423" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182385" "00181424" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182386" "00181425" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182387" "00181426" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182388" "00181427" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182389" "00181428" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182390" "00181429" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182391" "00181430" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182392" "00181431" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182393" "00181432" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182394" "00181433" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182395" "00181434" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182396" "00181435" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182397" "00181436" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182398" "00181437" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182399" "00181438" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182400" "00181439" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182401" "00181440" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182402" "00181441" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182403" "00181442" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182404" "00181443" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182405" "00181444" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182406" "00181445" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182407" "00181446" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182408" "00181447" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182409" "00181448" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182410" "00181449" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182411" "00181450" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182412" "00181451" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182413" "00181452" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182414" "00181453" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182415" "00181454" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182416" "00181455" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182417" "00181456" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182418" "00181457" "1" "00091" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182419" "00181458" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182420" "00181459" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182421" "00181460" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182422" "00181461" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182423" "00181462" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182424" "00181463" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182425" "00181464" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182426" "00181465" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182427" "00181466" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182428" "00181467" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182429" "00181468" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182430" "00181469" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182431" "00181470" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182432" "00181471" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182433" "00181472" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182434" "00181473" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182435" "00181474" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182436" "00181475" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182437" "00181476" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182438" "00181477" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182439" "00181478" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182440" "00181479" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182441" "00181480" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182442" "00181481" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182443" "00181482" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182444" "00181483" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182445" "00181484" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182446" "00181485" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182447" "00181486" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182448" "00181487" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182449" "00181488" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182450" "00181489" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182451" "00181490" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182452" "00181491" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182453" "00181492" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182454" "00181493" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182455" "00181494" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182456" "00181495" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182457" "00181496" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ" "DNA" "Blood" ""
"0000182458" "00181497" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000182459" "00181498" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182460" "00181499" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182461" "00181500" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182462" "00181501" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182463" "00181502" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182464" "00181503" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182465" "00181504" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182466" "00181505" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000182467" "00181506" "1" "02564" "00091" "2018-10-05 15:04:16" "" "" "SEQ-NG" "DNA" "Muscle, peripheral blood, lymphocytes, fibroblasts" ""
"0000219124" "00218053" "1" "00091" "00091" "2019-01-17 18:28:25" "" "" "SEQ-NG-IT" "DNA" "Blood" ""
"0000232091" "00230995" "1" "00091" "00091" "2019-04-22 09:42:31" "" "" "SEQ-NG-I" "DNA" "" ""
"0000232092" "00230996" "1" "00091" "00091" "2019-04-22 10:00:25" "" "" "SEQ-NG-IT" "DNA" "Blood" ""
"0000240078" "00238975" "1" "00091" "00091" "2019-05-29 09:09:39" "" "" "SEQ-NG-IT" "DNA" "Blood" ""
"0000241198" "00240094" "1" "00091" "00091" "2019-06-11 11:52:47" "" "" "SEQ-NG-IT" "DNA" "Blood" ""
"0000241459" "00240354" "1" "00091" "00091" "2019-06-13 18:08:39" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" ""
"0000241464" "00240359" "1" "00091" "00091" "2019-06-14 16:21:03" "" "" "SEQ-NG-IT" "DNA" "Blood" ""
"0000241465" "00240360" "1" "00091" "00091" "2019-06-14 17:39:22" "" "" "SEQ-NG-IT" "DNA" "Blood" ""
"0000266643" "00265520" "1" "00091" "00091" "2019-09-26 13:58:44" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000267505" "00266378" "1" "00091" "00091" "2019-10-25 09:31:40" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000270450" "00269319" "1" "00091" "00091" "2019-11-15 17:24:38" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000275322" "00274167" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000276844" "00275690" "1" "00091" "00091" "2020-01-16 10:48:19" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000277027" "00275873" "1" "03833" "00006" "2020-01-19 13:09:58" "00006" "2020-12-07 14:21:57" "SEQ;SEQ-NG" "DNA" "" "study WGS Illumina’s HiSeq Xten"
"0000288327" "00287160" "1" "00091" "00091" "2020-02-13 10:13:14" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000288328" "00287161" "1" "00091" "00091" "2020-02-13 10:24:14" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000288329" "00287162" "1" "00091" "00091" "2020-02-13 10:37:06" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000288330" "00287163" "1" "00091" "00091" "2020-02-13 10:55:41" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000290454" "00289284" "1" "01164" "01164" "2020-03-02 12:26:20" "" "" "SEQ-NG-S" "DNA" "" ""
"0000294474" "00293306" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294475" "00293307" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294476" "00293308" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294477" "00293309" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294478" "00293310" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296757" "00295587" "1" "01164" "01164" "2020-03-18 10:49:12" "" "" "SEQ-NG-S" "DNA" "" ""
"0000296763" "00295593" "1" "01164" "01164" "2020-03-18 10:49:26" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297083" "00295911" "1" "01164" "01164" "2020-03-30 10:43:49" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297102" "00295930" "1" "01164" "01164" "2020-03-30 10:44:27" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297154" "00295983" "1" "01164" "01164" "2020-04-01 11:00:23" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297506" "00296395" "1" "01164" "01164" "2020-04-06 09:48:10" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297956" "00296846" "1" "01164" "01164" "2020-04-14 14:08:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297964" "00296854" "1" "01164" "01164" "2020-04-14 14:16:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297966" "00296856" "1" "01164" "01164" "2020-04-14 14:18:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000300536" "00299426" "1" "00091" "00091" "2020-04-15 09:00:42" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000300537" "00299427" "1" "00091" "00091" "2020-04-15 09:12:03" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000300538" "00299428" "1" "00091" "00091" "2020-04-15 09:15:54" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000300539" "00299429" "1" "00091" "00091" "2020-04-15 09:23:07" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000302172" "00301050" "1" "00091" "00091" "2020-05-06 15:11:49" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000302173" "00301051" "1" "00091" "00091" "2020-05-06 15:22:26" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000302212" "00301090" "1" "01164" "01164" "2020-05-07 10:06:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000302514" "00301393" "1" "01164" "01164" "2020-05-15 11:20:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000307383" "00306247" "1" "01807" "01807" "2020-07-13 13:17:01" "" "" "SEQ" "DNA" "" ""
"0000308415" "00307273" "1" "00091" "00091" "2020-08-07 16:51:03" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000308416" "00307274" "1" "00091" "00091" "2020-08-07 16:58:15" "" "" "SEQ-NG" "DNA" "" ""
"0000308417" "00307275" "1" "00091" "00091" "2020-08-07 17:03:45" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000308840" "00307700" "1" "01164" "01164" "2020-08-18 13:05:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000312340" "00311184" "1" "01164" "01164" "2020-09-21 13:03:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000319164" "00317982" "1" "01164" "01164" "2020-11-05 14:16:38" "" "" "SEQ-NG-I" "DNA" "" ""
"0000325687" "00324496" "1" "00091" "00091" "2020-12-16 12:09:05" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000325688" "00324497" "1" "00091" "00091" "2020-12-16 12:29:36" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000325706" "00324515" "1" "00091" "00091" "2020-12-16 14:46:47" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000328031" "00326818" "1" "00091" "00091" "2021-01-16 10:09:47" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000328149" "00326936" "1" "00091" "00091" "2021-01-17 08:43:52" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000328151" "00326938" "1" "00091" "00091" "2021-01-17 08:59:34" "" "" "SEQ-NG" "DNA" "" ""
"0000328718" "00327503" "1" "00091" "00091" "2021-01-22 16:13:54" "" "" "SEQ-NG" "DNA" "" ""
"0000329569" "00328355" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000329595" "00328381" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000333773" "00332549" "1" "00000" "00006" "2021-02-20 09:48:27" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000334994" "00333768" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334995" "00333769" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334996" "00333770" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334997" "00333771" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334998" "00333772" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000334999" "00333773" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000335000" "00333774" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000335001" "00333775" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" ""
"0000335735" "00334508" "1" "01807" "01807" "2021-03-01 09:43:01" "" "" "SEQ" "DNA" "" ""
"0000336360" "00335131" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000360687" "00359457" "1" "01807" "01807" "2021-03-22 12:30:01" "" "" "SEQ" "DNA" "" ""
"0000360723" "00359493" "1" "04026" "04026" "2021-03-22 21:34:14" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000360724" "00359494" "1" "04026" "04026" "2021-03-22 21:59:11" "" "" "SEQ" "DNA" "Blood" ""
"0000360732" "00359503" "1" "04026" "04026" "2021-03-23 10:37:13" "" "" "SEQ" "DNA" "Blood" ""
"0000360733" "00359504" "1" "04026" "04026" "2021-03-23 11:03:35" "" "" "SEQ" "DNA" "Blood" ""
"0000360757" "00359528" "1" "04026" "04026" "2021-03-23 17:47:23" "" "" "SEQ" "DNA" "Blood" ""
"0000360758" "00359529" "1" "04026" "04026" "2021-03-23 17:57:46" "" "" "SEQ" "DNA" "Blood" ""
"0000360759" "00359530" "1" "04026" "04026" "2021-03-23 18:13:41" "" "" "SEQ" "DNA" "Blood" ""
"0000360760" "00359531" "1" "04026" "04026" "2021-03-23 18:23:22" "" "" "SEQ" "DNA" "Blood" ""
"0000360761" "00359532" "1" "04026" "04026" "2021-03-23 18:30:59" "" "" "SEQ" "DNA" "Blood" ""
"0000360762" "00359533" "1" "04026" "04026" "2021-03-23 18:37:27" "" "" "SEQ" "DNA" "Blood" ""
"0000360763" "00359534" "1" "04026" "04026" "2021-03-23 18:46:37" "" "" "SEQ" "DNA" "Blood" ""
"0000360764" "00359535" "1" "04026" "04026" "2021-03-23 18:55:04" "" "" "SEQ" "DNA" "Blood" ""
"0000360765" "00359536" "1" "04026" "04026" "2021-03-23 19:33:40" "" "" "SEQ" "DNA" "Blood" ""
"0000360766" "00359537" "1" "04026" "04026" "2021-03-23 19:48:03" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000360767" "00359538" "1" "04026" "04026" "2021-03-23 20:02:42" "" "" "SEQ" "DNA" "Blood" ""
"0000360768" "00359539" "1" "04026" "04026" "2021-03-23 20:16:05" "" "" "SEQ" "DNA" "Blood" ""
"0000360769" "00359540" "1" "04026" "04026" "2021-03-23 20:23:38" "" "" "SEQ" "DNA" "Blood" ""
"0000360771" "00359543" "1" "04026" "04026" "2021-03-24 09:33:33" "" "" "SEQ" "DNA" "Blood" ""
"0000360772" "00359544" "1" "04026" "04026" "2021-03-24 09:41:32" "" "" "SEQ" "DNA" "Blood" ""
"0000360799" "00359571" "1" "04026" "04026" "2021-03-26 09:31:42" "" "" "SEQ" "DNA" "Blood" ""
"0000360800" "00359572" "1" "04026" "04026" "2021-03-26 09:41:43" "" "" "SEQ" "DNA" "Blood" ""
"0000364593" "00363365" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364615" "00363387" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000365042" "00363814" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES"
"0000365043" "00363815" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES"
"0000365044" "00363816" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES"
"0000365118" "00363890" "1" "00091" "00091" "2021-05-02 08:10:52" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000373811" "00372579" "1" "01807" "01807" "2021-05-10 10:01:01" "" "" "SEQ" "DNA" "" ""
"0000374890" "00373657" "1" "04076" "04076" "2021-05-18 09:37:36" "" "" "SEQ" "DNA" "" ""
"0000374893" "00373660" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374894" "00373661" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374895" "00373662" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374896" "00373663" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374897" "00373664" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374898" "00373665" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374899" "00373666" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374900" "00373667" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374901" "00373668" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374902" "00373669" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374903" "00373670" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374904" "00373671" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374905" "00373672" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374906" "00373673" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374907" "00373674" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374909" "00373676" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374910" "00373677" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374911" "00373678" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374912" "00373679" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374913" "00373680" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374914" "00373681" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374915" "00373682" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374916" "00373683" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374917" "00373684" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374918" "00373685" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374919" "00373686" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374920" "00373687" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374921" "00373688" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374922" "00373689" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374923" "00373690" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374924" "00373691" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374925" "00373692" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374926" "00373693" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374927" "00373694" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374928" "00373695" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374929" "00373696" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374930" "00373697" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374931" "00373698" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374932" "00373699" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374933" "00373700" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374934" "00373701" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374935" "00373702" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374936" "00373703" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374937" "00373704" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374938" "00373705" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000374939" "00373706" "1" "04076" "04076" "2021-05-18 16:55:07" "" "" "SEQ" "DNA" "" ""
"0000375992" "00374798" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000376087" "00374893" "1" "00091" "00091" "2021-05-26 11:16:53" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000376457" "00375263" "1" "00091" "00091" "2021-06-02 07:46:00" "" "" "SEQ-NG" "DNA" "" ""
"0000376459" "00375264" "1" "00091" "00091" "2021-06-02 08:17:25" "" "" "SEQ-NG" "DNA" "" ""
"0000377357" "00376161" "1" "00091" "00091" "2021-06-17 18:43:09" "" "" "SEQ-NG" "DNA" "" ""
"0000377358" "00376162" "1" "00091" "00091" "2021-06-17 18:56:06" "" "" "SEQ-NG" "DNA" "" ""
"0000380628" "00379428" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000380648" "00379448" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000381351" "00380149" "1" "03508" "03508" "2021-08-10 09:51:26" "" "" "SEQ-NG-I" "DNA" "" ""
"0000385455" "00384230" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385468" "00384243" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385487" "00384262" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385491" "00384266" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385498" "00384273" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385504" "00384279" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385514" "00384289" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385551" "00384326" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385592" "00384367" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385593" "00384368" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385666" "00384441" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385667" "00384442" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000385683" "00384458" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000388153" "00386925" "1" "00006" "00006" "2021-10-26 19:10:41" "00006" "2021-10-26 20:03:08" "SEQ" "DNA" "" ""
"0000388904" "00387678" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing"
"0000389826" "00388584" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000391569" "00390328" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391570" "00390329" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000392007" "00390766" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392029" "00390788" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392031" "00390790" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392032" "00390791" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392038" "00390797" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" ""
"0000392191" "00390950" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392195" "00390954" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000392227" "00390986" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" ""
"0000395618" "00394371" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis"
"0000397726" "00396483" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies"
"0000405315" "00404078" "1" "00091" "00091" "2022-02-26 08:06:19" "" "" "SEQ-NG" "DNA" "" ""
"0000405316" "00404079" "1" "00091" "00091" "2022-02-26 08:20:11" "" "" "SEQ-NG" "DNA" "" ""
"0000405317" "00404080" "1" "00091" "00091" "2022-02-26 08:26:13" "" "" "SEQ-NG" "DNA" "" ""
"0000405318" "00404081" "1" "00091" "00091" "2022-02-26 14:06:01" "" "" "SEQ-NG" "DNA" "" ""
"0000405319" "00404082" "1" "00091" "00091" "2022-02-26 14:11:23" "" "" "SEQ-NG" "DNA" "" ""
"0000405320" "00404083" "1" "00091" "00091" "2022-02-26 14:36:05" "" "" "SEQ-NG" "DNA" "" ""
"0000405325" "00404088" "1" "00091" "00091" "2022-02-26 18:47:57" "" "" "SEQ-NG" "DNA" "" ""
"0000405326" "00404089" "1" "00091" "00091" "2022-02-26 18:52:51" "" "" "SEQ-NG" "DNA" "" ""
"0000405327" "00404090" "1" "00091" "00091" "2022-02-26 19:01:52" "" "" "SEQ-NG" "DNA" "" ""
"0000405332" "00404095" "1" "00091" "00091" "2022-02-27 07:37:54" "" "" "SEQ-NG" "DNA" "" ""
"0000413539" "00412266" "1" "03508" "03508" "2022-06-26 09:27:16" "" "" "SEQ-NG-I" "RNA" "" ""
"0000413540" "00412267" "1" "03508" "03508" "2022-06-26 09:38:16" "" "" "SEQ-NG-I" "DNA" "" ""
"0000413541" "00412268" "1" "03508" "03508" "2022-06-26 09:42:34" "" "" "SEQ-NG-I" "DNA" "" ""
"0000416139" "00414858" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416140" "00414859" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416141" "00414860" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416142" "00414861" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416143" "00414862" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416144" "00414863" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416145" "00414864" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416146" "00414865" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416147" "00414866" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416148" "00414867" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416149" "00414868" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416150" "00414869" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416151" "00414870" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416152" "00414871" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416153" "00414872" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416154" "00414873" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416155" "00414874" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416156" "00414875" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416157" "00414876" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416158" "00414877" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416159" "00414878" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416160" "00414879" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416161" "00414880" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416162" "00414881" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416163" "00414882" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416164" "00414883" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416165" "00414884" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416166" "00414885" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416167" "00414886" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416168" "00414887" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416169" "00414888" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416170" "00414889" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416171" "00414890" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416172" "00414891" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416173" "00414892" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416174" "00414893" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416175" "00414894" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416176" "00414895" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416177" "00414896" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416178" "00414897" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416179" "00414898" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416180" "00414899" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416181" "00414900" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416182" "00414901" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416183" "00414902" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416184" "00414903" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416185" "00414904" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416186" "00414905" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416187" "00414906" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416188" "00414907" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416189" "00414908" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416190" "00414909" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416191" "00414910" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416192" "00414911" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416193" "00414912" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416194" "00414913" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416195" "00414914" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416196" "00414915" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416197" "00414916" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416198" "00414917" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416199" "00414918" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416200" "00414919" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416201" "00414920" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416202" "00414921" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416203" "00414922" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416204" "00414923" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416205" "00414924" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416206" "00414925" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416207" "00414926" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416208" "00414927" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416209" "00414928" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416210" "00414929" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416211" "00414930" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416212" "00414931" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416213" "00414932" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416214" "00414933" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416215" "00414934" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416216" "00414935" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416217" "00414936" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416218" "00414937" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416219" "00414938" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416220" "00414939" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416221" "00414940" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416222" "00414941" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416223" "00414942" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416224" "00414943" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416225" "00414944" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416226" "00414945" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416227" "00414946" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416228" "00414947" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416229" "00414948" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416230" "00414949" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416231" "00414950" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416232" "00414951" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416233" "00414952" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416234" "00414953" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416235" "00414954" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416236" "00414955" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416237" "00414956" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416238" "00414957" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416239" "00414958" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416240" "00414959" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416241" "00414960" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416242" "00414961" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416243" "00414962" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416244" "00414963" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416245" "00414964" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416246" "00414965" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416247" "00414966" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416248" "00414967" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416249" "00414968" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416250" "00414969" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416251" "00414970" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416252" "00414971" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416253" "00414972" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416254" "00414973" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416255" "00414974" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416256" "00414975" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416257" "00414976" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416258" "00414977" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416259" "00414978" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416260" "00414979" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416261" "00414980" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416262" "00414981" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416263" "00414982" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416264" "00414983" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416265" "00414984" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416266" "00414985" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416267" "00414986" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416268" "00414987" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416269" "00414988" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416270" "00414989" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416271" "00414990" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416272" "00414991" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416273" "00414992" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416274" "00414993" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416275" "00414994" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416276" "00414995" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416277" "00414996" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416278" "00414997" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416279" "00414998" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416280" "00414999" "1" "00006" "00006" "2022-08-05 17:24:11" "00006" "2022-08-05 17:28:43" "PCR;SEQ" "DNA" "" "WGS"
"0000416281" "00415000" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416282" "00415001" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416283" "00415002" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416284" "00415003" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416285" "00415004" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416286" "00415005" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416287" "00415006" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416288" "00415007" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416289" "00415008" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416290" "00415009" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416291" "00415010" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416292" "00415011" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416293" "00415012" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416294" "00415013" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416295" "00415014" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416296" "00415015" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416297" "00415016" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416298" "00415017" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416299" "00415018" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416300" "00415019" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416301" "00415020" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416302" "00415021" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416303" "00415022" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416304" "00415023" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416305" "00415024" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416306" "00415025" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416307" "00415026" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416308" "00415027" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416309" "00415028" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416310" "00415029" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416311" "00415030" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416312" "00415031" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416313" "00415032" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416314" "00415033" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416315" "00415034" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416316" "00415035" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416317" "00415036" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416318" "00415037" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416319" "00415038" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416320" "00415039" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416321" "00415040" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416322" "00415041" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416323" "00415042" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416324" "00415043" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000416325" "00415044" "1" "00006" "00006" "2022-08-05 17:24:11" "" "" "SEQ" "DNA" "" ""
"0000419804" "00418509" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES"
"0000420871" "00419567" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000429489" "00428077" "1" "04076" "04076" "2022-12-21 13:29:51" "00006" "2022-12-22 13:29:27" "RT-PCR;SEQ" "DNA;RNA" "Blood" ""
"0000429524" "00428112" "1" "04076" "04076" "2022-12-22 07:12:20" "00006" "2022-12-22 13:25:33" "RT-PCR;SEQ" "DNA;RNA" "Blood" ""
"0000433272" "00431833" "1" "01602" "01602" "2023-02-16 16:14:54" "" "" "SEQ-NG" "DNA" "" ""
"0000433314" "00431874" "1" "01602" "01602" "2023-02-17 14:50:48" "" "" "SEQ-NG" "DNA" "" ""
"0000437041" "00435562" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000438227" "00436738" "1" "03780" "03780" "2023-10-04 10:43:08" "" "" "SEQ-NG" "DNA" "" ""
"0000438228" "00436739" "1" "03780" "03780" "2023-10-04 11:01:40" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1032
"{{screeningid}}" "{{geneid}}"
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"0000106255" "OPA1"
"0000106256" "OPA1"
"0000106257" "OPA1"
"0000106258" "OPA1"
"0000106259" "OPA1"
"0000106260" "OPA1"
"0000106261" "OPA1"
"0000106262" "OPA1"
"0000106263" "OPA1"
"0000106264" "OPA1"
"0000106265" "OPA1"
"0000106266" "OPA1"
"0000106267" "OPA1"
"0000106268" "OPA1"
"0000106269" "OPA1"
"0000106270" "OPA1"
"0000106271" "OPA1"
"0000106272" "OPA1"
"0000106273" "OPA1"
"0000106274" "OPA1"
"0000106275" "OPA1"
"0000106276" "OPA1"
"0000106277" "OPA1"
"0000106278" "OPA1"
"0000106279" "OPA1"
"0000106280" "OPA1"
"0000106281" "OPA1"
"0000106282" "OPA1"
"0000106283" "OPA1"
"0000106284" "OPA1"
"0000106285" "OPA1"
"0000106286" "OPA1"
"0000106287" "OPA1"
"0000106288" "OPA1"
"0000106289" "OPA1"
"0000106290" "OPA1"
"0000151036" "OPA1"
"0000152687" "ABHD12"
"0000165395" "OPA1"
"0000165396" "OPA1"
"0000165397" "OPA1"
"0000165398" "OPA1"
"0000165399" "OPA1"
"0000165400" "OPA1"
"0000165401" "OPA1"
"0000165402" "OPA1"
"0000165403" "OPA1"
"0000165404" "OPA1"
"0000165405" "OPA1"
"0000165406" "OPA1"
"0000165407" "OPA1"
"0000165408" "OPA1"
"0000165409" "OPA1"
"0000165410" "OPA1"
"0000165411" "OPA1"
"0000165412" "OPA1"
"0000165413" "OPA1"
"0000165414" "OPA1"
"0000165415" "OPA1"
"0000165416" "OPA1"
"0000165417" "OPA1"
"0000165418" "OPA1"
"0000165419" "OPA1"
"0000165420" "OPA1"
"0000165421" "OPA1"
"0000165422" "OPA1"
"0000165423" "OPA1"
"0000165424" "OPA1"
"0000165425" "OPA1"
"0000165426" "OPA1"
"0000165427" "OPA1"
"0000165428" "OPA1"
"0000165429" "OPA1"
"0000165430" "OPA1"
"0000165431" "OPA1"
"0000165432" "OPA1"
"0000165433" "OPA1"
"0000165434" "OPA1"
"0000165435" "OPA1"
"0000165436" "OPA1"
"0000165437" "OPA1"
"0000165438" "OPA1"
"0000165439" "OPA1"
"0000165440" "OPA1"
"0000165441" "OPA1"
"0000165442" "OPA1"
"0000165443" "OPA1"
"0000165444" "OPA1"
"0000165445" "OPA1"
"0000165446" "OPA1"
"0000165447" "OPA1"
"0000165448" "OPA1"
"0000165449" "OPA1"
"0000165450" "OPA1"
"0000165451" "OPA1"
"0000165452" "OPA1"
"0000165453" "OPA1"
"0000165454" "OPA1"
"0000165455" "OPA1"
"0000165456" "OPA1"
"0000165457" "OPA1"
"0000165458" "OPA1"
"0000165459" "OPA1"
"0000165460" "OPA1"
"0000165461" "OPA1"
"0000165462" "OPA1"
"0000165463" "OPA1"
"0000165464" "OPA1"
"0000165465" "OPA1"
"0000165466" "OPA1"
"0000165467" "OPA1"
"0000165468" "OPA1"
"0000165469" "OPA1"
"0000165470" "OPA1"
"0000165471" "OPA1"
"0000165472" "OPA1"
"0000165473" "OPA1"
"0000165474" "OPA1"
"0000165475" "OPA1"
"0000165476" "OPA1"
"0000165477" "OPA1"
"0000165478" "OPA1"
"0000165479" "OPA1"
"0000165480" "OPA1"
"0000165481" "OPA1"
"0000165482" "OPA1"
"0000181314" "OPA1"
"0000181852" "OPA1"
"0000181853" "OPA1"
"0000181854" "OPA1"
"0000181856" "OPA1"
"0000181857" "OPA1"
"0000181858" "OPA1"
"0000181859" "OPA1"
"0000181860" "OPA1"
"0000181861" "OPA1"
"0000181862" "OPA1"
"0000181863" "OPA1"
"0000181864" "OPA1"
"0000181865" "OPA1"
"0000181866" "OPA1"
"0000181867" "OPA1"
"0000181868" "OPA1"
"0000181869" "OPA1"
"0000181870" "OPA1"
"0000181871" "OPA1"
"0000181872" "OPA1"
"0000181873" "OPA1"
"0000181874" "OPA1"
"0000181890" "OPA1"
"0000181891" "OPA1"
"0000181892" "OPA1"
"0000181895" "OPA1"
"0000181897" "OPA1"
"0000181898" "OPA1"
"0000181899" "OPA1"
"0000181900" "OPA1"
"0000181901" "OPA1"
"0000181902" "OPA1"
"0000181903" "OPA1"
"0000181909" "OPA1"
"0000181910" "OPA1"
"0000181913" "OPA1"
"0000181914" "OPA1"
"0000181915" "OPA1"
"0000181917" "OPA1"
"0000181918" "OPA1"
"0000181919" "OPA1"
"0000181920" "OPA1"
"0000181962" "OPA1"
"0000181964" "OPA1"
"0000181967" "OPA1"
"0000181968" "OPA1"
"0000181969" "OPA1"
"0000181970" "OPA1"
"0000181971" "OPA1"
"0000181972" "OPA1"
"0000181974" "OPA1"
"0000182033" "OPA1"
"0000182045" "OPA1"
"0000182047" "OPA1"
"0000182049" "OPA1"
"0000182050" "OPA1"
"0000182359" "OPA1"
"0000182360" "OPA1"
"0000182361" "OPA1"
"0000182362" "OPA1"
"0000182363" "OPA1"
"0000182364" "OPA1"
"0000182365" "OPA1"
"0000182366" "OPA1"
"0000182367" "OPA1"
"0000182368" "OPA1"
"0000182369" "OPA1"
"0000182370" "OPA1"
"0000182371" "OPA1"
"0000182372" "OPA1"
"0000182373" "OPA1"
"0000182374" "OPA1"
"0000182375" "OPA1"
"0000182376" "OPA1"
"0000182377" "OPA1"
"0000182378" "OPA1"
"0000182379" "OPA1"
"0000182380" "OPA1"
"0000182381" "OPA1"
"0000182382" "OPA1"
"0000182383" "OPA1"
"0000182384" "OPA1"
"0000182385" "OPA1"
"0000182386" "OPA1"
"0000182387" "OPA1"
"0000182388" "OPA1"
"0000182389" "OPA1"
"0000182390" "OPA1"
"0000182391" "OPA1"
"0000182392" "OPA1"
"0000182393" "OPA1"
"0000182394" "OPA1"
"0000182395" "OPA1"
"0000182396" "OPA1"
"0000182397" "OPA1"
"0000182398" "OPA1"
"0000182399" "OPA1"
"0000182400" "OPA1"
"0000182401" "OPA1"
"0000182402" "OPA1"
"0000182403" "OPA1"
"0000182404" "OPA1"
"0000182405" "OPA1"
"0000182406" "OPA1"
"0000182407" "OPA1"
"0000182408" "OPA1"
"0000182409" "OPA1"
"0000182410" "OPA1"
"0000182411" "OPA1"
"0000182412" "OPA1"
"0000182413" "OPA1"
"0000182414" "OPA1"
"0000182415" "OPA1"
"0000182416" "OPA1"
"0000182417" "OPA1"
"0000182418" "OPA1"
"0000182419" "OPA1"
"0000182420" "OPA1"
"0000182421" "OPA1"
"0000182422" "OPA1"
"0000182423" "OPA1"
"0000182424" "OPA1"
"0000182425" "OPA1"
"0000182426" "OPA1"
"0000182427" "OPA1"
"0000182428" "OPA1"
"0000182429" "OPA1"
"0000182430" "OPA1"
"0000182431" "OPA1"
"0000182432" "OPA1"
"0000182433" "OPA1"
"0000182434" "OPA1"
"0000182435" "OPA1"
"0000182436" "OPA1"
"0000182437" "OPA1"
"0000182438" "OPA1"
"0000182439" "OPA1"
"0000182440" "OPA1"
"0000182441" "OPA1"
"0000182442" "OPA1"
"0000182443" "OPA1"
"0000182444" "OPA1"
"0000182445" "OPA1"
"0000182446" "OPA1"
"0000182447" "OPA1"
"0000182448" "OPA1"
"0000182449" "OPA1"
"0000182450" "OPA1"
"0000182451" "OPA1"
"0000182452" "OPA1"
"0000182453" "OPA1"
"0000182454" "OPA1"
"0000182455" "OPA1"
"0000182456" "OPA1"
"0000182457" "OPA1"
"0000182458" "OPA1"
"0000182459" "OPA1"
"0000182460" "OPA1"
"0000182461" "OPA1"
"0000182462" "OPA1"
"0000182463" "OPA1"
"0000182464" "OPA1"
"0000182465" "OPA1"
"0000182466" "OPA1"
"0000182467" "OPA1"
"0000219124" "OPA1"
"0000241459" "OPA1"
"0000266643" "OPA1"
"0000275322" "OPA1"
"0000276844" "OPA1"
"0000288327" "OPA1"
"0000288328" "OPA1"
"0000288329" "OPA1"
"0000288330" "OPA1"
"0000300536" "OPA1"
"0000300537" "OPA1"
"0000300538" "OPA1"
"0000300539" "OPA1"
"0000302172" "OPA1"
"0000302173" "OPA1"
"0000308415" "OPA1"
"0000308415" "SPG7"
"0000308416" "OPA1"
"0000308417" "OPA1"
"0000319164" "OPA1"
"0000325687" "OPA1"
"0000325688" "DNM1L"
"0000325688" "OPA1"
"0000325706" "OPA1"
"0000328031" "OPA1"
"0000328149" "OPA1"
"0000328151" "MFN2"
"0000328151" "OPA1"
"0000328718" "OPA1"
"0000329569" "COL2A1"
"0000329569" "OPA1"
"0000329595" "CACNA1F"
"0000329595" "OPA1"
"0000333773" "OPA1"
"0000334994" "OPA1"
"0000334995" "OPA1"
"0000334996" "OPA1"
"0000334997" "OPA1"
"0000334998" "OPA1"
"0000334999" "OPA1"
"0000335000" "OPA1"
"0000335001" "OPA1"
"0000336360" "OPA1"
"0000360723" "OPA1"
"0000360724" "OPA1"
"0000360732" "OPA1"
"0000360733" "OPA1"
"0000360757" "OPA1"
"0000360758" "OPA1"
"0000360759" "OPA1"
"0000360760" "OPA1"
"0000360761" "OPA1"
"0000360762" "OPA1"
"0000360763" "OPA1"
"0000360764" "OPA1"
"0000360765" "OPA1"
"0000360766" "OPA1"
"0000360767" "OPA1"
"0000360768" "OPA1"
"0000360769" "OPA1"
"0000360771" "OPA1"
"0000360772" "OPA1"
"0000360799" "OPA1"
"0000360800" "OPA1"
"0000364593" "OPA1"
"0000364615" "OPA1"
"0000365042" "OPA1"
"0000365043" "OPA1"
"0000365044" "OPA1"
"0000365118" "OPA1"
"0000374890" "OPA1"
"0000374893" "OPA1"
"0000374894" "OPA1"
"0000374895" "OPA1"
"0000374896" "OPA1"
"0000374897" "OPA1"
"0000374898" "OPA1"
"0000374899" "OPA1"
"0000374900" "OPA1"
"0000374901" "OPA1"
"0000374902" "OPA1"
"0000374903" "OPA1"
"0000374904" "OPA1"
"0000374905" "OPA1"
"0000374906" "OPA1"
"0000374907" "OPA1"
"0000374909" "OPA1"
"0000374910" "OPA1"
"0000374911" "OPA1"
"0000374912" "OPA1"
"0000374913" "OPA1"
"0000374914" "OPA1"
"0000374915" "OPA1"
"0000374916" "OPA1"
"0000374917" "OPA1"
"0000374918" "OPA1"
"0000374919" "OPA1"
"0000374920" "OPA1"
"0000374921" "OPA1"
"0000374922" "OPA1"
"0000374923" "OPA1"
"0000374924" "OPA1"
"0000374925" "OPA1"
"0000374926" "OPA1"
"0000374927" "OPA1"
"0000374928" "OPA1"
"0000374929" "OPA1"
"0000374930" "OPA1"
"0000374931" "OPA1"
"0000374932" "OPA1"
"0000374933" "OPA1"
"0000374934" "OPA1"
"0000374935" "OPA1"
"0000374936" "OPA1"
"0000374937" "OPA1"
"0000374938" "OPA1"
"0000374939" "OPA1"
"0000375992" "OPA1"
"0000376087" "OPA1"
"0000376457" "OPA1"
"0000376459" "OPA1"
"0000377357" "OPA1"
"0000377358" "OPA1"
"0000380628" "OPA1"
"0000380648" "OPA1"
"0000385455" "OPA1"
"0000385468" "OPA1"
"0000385487" "OPA1"
"0000385491" "OPA1"
"0000385498" "OPA1"
"0000385504" "OPA1"
"0000385514" "OPA1"
"0000385551" "OPA1"
"0000385592" "OPA1"
"0000385593" "OPA1"
"0000385666" "OPA1"
"0000385667" "OPA1"
"0000385683" "OPA1"
"0000388904" "OPA1"
"0000389826" "OPA1"
"0000391569" "OPA1"
"0000391570" "OPA1"
"0000392007" "OPA1"
"0000392029" "OPA1"
"0000392031" "OPA1"
"0000392032" "OPA1"
"0000392038" "OPA1"
"0000392191" "OPA1"
"0000392195" "OPA1"
"0000392227" "OPA1"
"0000395618" "OPA1"
"0000397726" "OPA1"
"0000405315" "OPA1"
"0000405316" "OPA1"
"0000405317" "OPA1"
"0000405318" "OPA1"
"0000405319" "OPA1"
"0000405320" "OPA1"
"0000405325" "OPA1"
"0000405326" "OPA1"
"0000405327" "OPA1"
"0000405332" "OPA1"
"0000416139" "OPA1"
"0000416140" "OPA1"
"0000416141" "OPA1"
"0000416142" "OPA1"
"0000416143" "OPA1"
"0000416144" "OPA1"
"0000416145" "OPA1"
"0000416146" "OPA1"
"0000416147" "OPA1"
"0000416148" "OPA1"
"0000416149" "OPA1"
"0000416150" "OPA1"
"0000416151" "OPA1"
"0000416152" "OPA1"
"0000416153" "OPA1"
"0000416154" "OPA1"
"0000416155" "OPA1"
"0000416156" "OPA1"
"0000416157" "OPA1"
"0000416158" "OPA1"
"0000416159" "OPA1"
"0000416160" "OPA1"
"0000416161" "OPA1"
"0000416162" "OPA1"
"0000416163" "OPA1"
"0000416164" "OPA1"
"0000416165" "OPA1"
"0000416166" "OPA1"
"0000416167" "OPA1"
"0000416168" "OPA1"
"0000416169" "OPA1"
"0000416170" "OPA1"
"0000416171" "OPA1"
"0000416172" "OPA1"
"0000416173" "OPA1"
"0000416174" "OPA1"
"0000416175" "OPA1"
"0000416176" "OPA1"
"0000416177" "OPA1"
"0000416178" "OPA1"
"0000416179" "OPA1"
"0000416180" "OPA1"
"0000416181" "OPA1"
"0000416182" "OPA1"
"0000416183" "OPA1"
"0000416184" "OPA1"
"0000416185" "OPA1"
"0000416186" "OPA1"
"0000416187" "OPA1"
"0000416188" "OPA1"
"0000416189" "OPA1"
"0000416190" "OPA1"
"0000416191" "OPA1"
"0000416192" "OPA1"
"0000416193" "OPA1"
"0000416194" "OPA1"
"0000416195" "OPA1"
"0000416196" "OPA1"
"0000416197" "OPA1"
"0000416198" "OPA1"
"0000416199" "OPA1"
"0000416200" "OPA1"
"0000416201" "OPA1"
"0000416202" "OPA1"
"0000416203" "OPA1"
"0000416204" "OPA1"
"0000416205" "OPA1"
"0000416206" "OPA1"
"0000416207" "OPA1"
"0000416208" "OPA1"
"0000416209" "OPA1"
"0000416210" "OPA1"
"0000416211" "OPA1"
"0000416212" "OPA1"
"0000416213" "OPA1"
"0000416214" "OPA1"
"0000416215" "OPA1"
"0000416216" "OPA1"
"0000416217" "OPA1"
"0000416218" "OPA1"
"0000416219" "OPA1"
"0000416220" "OPA1"
"0000416221" "OPA1"
"0000416222" "OPA1"
"0000416223" "OPA1"
"0000416224" "OPA1"
"0000416225" "OPA1"
"0000416226" "OPA1"
"0000416227" "OPA1"
"0000416228" "OPA1"
"0000416229" "OPA1"
"0000416230" "OPA1"
"0000416231" "OPA1"
"0000416232" "OPA1"
"0000416233" "OPA1"
"0000416234" "OPA1"
"0000416235" "OPA1"
"0000416236" "OPA1"
"0000416237" "OPA1"
"0000416238" "OPA1"
"0000416239" "OPA1"
"0000416240" "OPA1"
"0000416241" "OPA1"
"0000416242" "OPA1"
"0000416243" "OPA1"
"0000416244" "OPA1"
"0000416245" "OPA1"
"0000416246" "OPA1"
"0000416247" "OPA1"
"0000416248" "OPA1"
"0000416249" "OPA1"
"0000416250" "OPA1"
"0000416251" "OPA1"
"0000416252" "OPA1"
"0000416253" "OPA1"
"0000416254" "OPA1"
"0000416255" "OPA1"
"0000416256" "OPA1"
"0000416257" "OPA1"
"0000416258" "OPA1"
"0000416259" "OPA1"
"0000416260" "OPA1"
"0000416261" "OPA1"
"0000416262" "OPA1"
"0000416263" "OPA1"
"0000416264" "OPA1"
"0000416265" "OPA1"
"0000416266" "OPA1"
"0000416267" "OPA1"
"0000416268" "OPA1"
"0000416269" "OPA1"
"0000416270" "OPA1"
"0000416271" "OPA1"
"0000416272" "OPA1"
"0000416273" "OPA1"
"0000416274" "OPA1"
"0000416275" "OPA1"
"0000416276" "OPA1"
"0000416277" "OPA1"
"0000416278" "OPA1"
"0000416279" "OPA1"
"0000416280" "OPA1"
"0000416281" "OPA1"
"0000416282" "OPA1"
"0000416283" "OPA1"
"0000416284" "OPA1"
"0000416285" "OPA1"
"0000416286" "OPA1"
"0000416287" "OPA1"
"0000416288" "OPA1"
"0000416289" "OPA1"
"0000416290" "OPA1"
"0000416291" "OPA1"
"0000416292" "OPA1"
"0000416293" "OPA1"
"0000416294" "OPA1"
"0000416295" "OPA1"
"0000416296" "OPA1"
"0000416297" "OPA1"
"0000416298" "OPA1"
"0000416299" "OPA1"
"0000416300" "OPA1"
"0000416301" "OPA1"
"0000416302" "OPA1"
"0000416303" "OPA1"
"0000416304" "OPA1"
"0000416305" "OPA1"
"0000416306" "OPA1"
"0000416307" "OPA1"
"0000416308" "OPA1"
"0000416309" "OPA1"
"0000416310" "OPA1"
"0000416311" "OPA1"
"0000416312" "OPA1"
"0000416313" "OPA1"
"0000416314" "OPA1"
"0000416315" "OPA1"
"0000416316" "OPA1"
"0000416317" "OPA1"
"0000416318" "OPA1"
"0000416319" "OPA1"
"0000416320" "OPA1"
"0000416321" "OPA1"
"0000416322" "OPA1"
"0000416323" "OPA1"
"0000416324" "OPA1"
"0000416325" "OPA1"
"0000429489" "OPA1"
"0000429524" "OPA1"
"0000438227" "OPA1"
"0000438228" "OPA1"
## 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 = 1245
"{{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}}"
"0000063614" "1" "90" "3" "193355765" "193355765" "subst" "0" "01164" "OPA1_000376" "g.193355765G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193637976G>C" "" "pathogenic" ""
"0000063615" "1" "50" "3" "193355774" "193355774" "subst" "0" "01164" "OPA1_000377" "g.193355774A>C" "" "" "" "" "PolyPhen-2: probably damaging (PSIC: 2,1)" "Germline" "" "" "0" "" "" "g.193637985A>C" "" "VUS" ""
"0000063616" "1" "50" "3" "193364779" "193364779" "subst" "0" "01164" "OPA1_000378" "g.193364779G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193646990G>A" "" "VUS" ""
"0000063617" "1" "50" "3" "193363611" "193363611" "subst" "0.00191276" "01164" "OPA1_000379" "g.193363611T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193645822T>G" "" "VUS" ""
"0000063618" "1" "10" "3" "193365749" "193365749" "subst" "0" "01164" "OPA1_000380" "g.193365749C>T" "" "" "" "" "only LCP" "Germline" "" "rs113367640" "0" "" "" "g.193647960C>T" "" "benign" ""
"0000063619" "1" "50" "3" "193380747" "193380747" "subst" "0.00000406683" "01164" "OPA1_000381" "g.193380747G>A" "" "" "" "" "p. Ser831Asn; parents: seggregation analysis" "Germline" "" "" "0" "" "" "g.193662958G>A" "" "VUS" ""
"0000063620" "1" "50" "3" "193363376" "193363376" "subst" "0" "01164" "OPA1_000382" "g.193363376T>A" "" "" "" "" "Polyphen-2: probably damaging score (PSIC: 2,824)" "Germline" "" "" "0" "" "" "g.193645587T>A" "" "VUS" ""
"0000063621" "1" "50" "3" "193361820" "193361820" "subst" "0" "01164" "OPA1_000383" "g.193361820C>A" "" "" "" "" "Polyphen probably damaging (PSIC: 2,506)" "Germline" "" "" "0" "" "" "g.193644031C>A" "" "VUS" ""
"0000063622" "1" "90" "3" "193360636" "193360636" "subst" "0" "01164" "OPA1_000241" "g.193360636T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193642847T>G" "" "pathogenic" ""
"0000063623" "1" "50" "3" "193361368" "193361368" "subst" "0" "01164" "OPA1_000384" "g.193361368A>C" "" "" "" "" "PolyPhen -2: possibly damaging (PSIC: 1,7)" "Germline" "" "" "0" "" "" "g.193643579A>C" "" "VUS" ""
"0000063624" "1" "50" "3" "193363342" "193363342" "subst" "0" "01164" "OPA1_000385" "g.193363342A>T" "" "" "" "" "Polyphen-2: possibly dam. (PSIC: 0,688);Mut.taster: disease causing" "Germline" "" "" "0" "" "" "g.193645553A>T" "" "VUS" ""
"0000063625" "1" "90" "3" "193364907" "193364907" "dup" "0" "01164" "OPA1_000386" "g.193364907dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193647118dup" "" "pathogenic" ""
"0000063626" "1" "90" "3" "193372684" "193372685" "del" "0" "01164" "OPA1_000013" "g.193372684_193372685del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193654895_193654896del" "" "pathogenic" ""
"0000063627" "1" "90" "3" "193372792" "193372795" "del" "0" "01164" "OPA1_000387" "g.193372792_193372795del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193655003_193655006del" "" "pathogenic" ""
"0000063628" "1" "10" "3" "193384796" "193384796" "subst" "0" "01164" "OPA1_000388" "g.193384796G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193667007G>A" "" "benign" ""
"0000063629" "1" "50" "3" "193333491" "193333491" "subst" "0.0000203117" "01164" "OPA1_000389" "g.193333491C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193615702C>T" "" "VUS" ""
"0000063630" "1" "50" "3" "193311222" "193311222" "subst" "0.0000621543" "01164" "OPA1_000390" "g.193311222C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193593433C>G" "" "VUS" ""
"0000063631" "1" "50" "3" "193360835" "193360835" "subst" "0.000464169" "01164" "OPA1_000329" "g.193360835T>G" "frequency <1%" "" "" "" "" "Germline" "" "rs139861334" "0" "" "" "g.193643046T>G" "" "VUS" ""
"0000063632" "1" "50" "3" "193372764" "193372764" "subst" "0" "01164" "OPA1_000391" "g.193372764A>G" "" "" "" "" "Polyphen-2: probably damaging PSIC: 2,31)" "Germline" "" "" "0" "" "" "g.193654975A>G" "" "VUS" ""
"0000063633" "1" "90" "3" "193360639" "193360639" "subst" "0" "01164" "OPA1_000392" "g.193360639G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193642850G>A" "" "pathogenic" ""
"0000063634" "1" "10" "3" "193361117" "193361117" "subst" "0.000820924" "01164" "OPA1_000393" "g.193361117C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193643328C>T" "" "benign" ""
"0000063635" "1" "50" "3" "193310890" "193310890" "subst" "0" "01164" "OPA1_000394" "g.193310890C>T" "" "" "" "" "" "Germline" "" "rs181230813" "0" "" "" "g.193593101C>T" "" "VUS" ""
"0000084839" "0" "50" "3" "193355835" "193355835" "subst" "0" "01479" "OPA1_000395" "g.193355835T>G" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Unknown" "" "" "0" "" "" "g.193638046T>G" "" "VUS" ""
"0000084844" "0" "50" "3" "193332592" "193332609" "del" "0" "01479" "OPA1_000082" "g.193332592_193332609del" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "VUS" ""
"0000130038" "0" "90" "3" "193361785" "193361785" "subst" "0" "01758" "OPA1_000104" "g.193361785G>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.193643996G>A" "" "pathogenic" "ACMG"
"0000169169" "0" "70" "3" "193360794" "193360794" "subst" "0" "01164" "OPA1_000001" "g.193360794C>T" "" "" "" "" "Alexander 2000. Nat Genet 26: 211: found in patients with ADOA, segregates with disease in family" "Germline" "" "rs104893753" "0" "" "" "g.193643005C>T" "{CV:01164}" "pathogenic" "ACMG"
"0000170926" "21" "90" "3" "193349411" "193349412" "del" "0" "01244" "OPA1_000026" "g.193349411_193349412del" "" "{PMID:de Castro-Miró 2016:28005958}" "" "800_801delAA" "" "Germline" "yes" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic" "ACMG"
"0000171473" "0" "97" "3" "193360794" "193360794" "subst" "0" "00091" "OPA1_000001" "g.193360794C>T" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00001; Nucleotide change: C to T at 1096 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643005C>T" "" "pathogenic" ""
"0000171474" "0" "97" "3" "193372664" "193372664" "subst" "0" "00091" "OPA1_000002" "g.193372664C>T" "" "{PMID:Baris 2003:14961560}" "" "NM_015560.1:c.1861T>C (MISTAKE)" "eOPA1 identifier (obsolete):OA_00002; Nucleotide change: T to C at 1861 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654875C>T" "" "pathogenic" ""
"0000171475" "0" "97" "3" "193355015" "193355015" "subst" "0" "00091" "OPA1_000003" "g.193355015T>C" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00003; Nucleotide change: T to C at 815 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193637226T>C" "" "pathogenic" ""
"0000171476" "0" "97" "3" "193361860" "193361860" "subst" "0" "00091" "OPA1_000004" "g.193361860A>G" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00004; Nucleotide change: A to G at 1409 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193644071A>G" "" "pathogenic" ""
"0000171477" "0" "97" "3" "193365874" "193365874" "subst" "0" "00091" "OPA1_000005" "g.193365874T>C" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00005; Nucleotide change: T to C at 1721 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648085T>C" "" "pathogenic" ""
"0000171478" "0" "97" "3" "193355853" "193355853" "subst" "0" "00091" "OPA1_000006" "g.193355853A>G" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00007; Nucleotide change: A to G at 983 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: In-frameskipping of exon 9, loss of 38 aa (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193638064A>G" "" "pathogenic" ""
"0000171479" "0" "97" "3" "193355854" "193355854" "subst" "0" "00091" "OPA1_000007" "g.193355854G>A" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00008; Nucleotide change: G to A at 984 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: In-frameskipping of exon 9, loss of 38 aa (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193638065G>A" "" "pathogenic" ""
"0000171480" "0" "97" "3" "193360839" "193360839" "subst" "0" "00091" "OPA1_000008" "g.193360839G>A" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00009; Nucleotide change: G to A at 1140+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Possible in-frame skipping of exon 11, loss of 25 aa (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193643050G>A" "" "pathogenic" ""
"0000171481" "0" "97" "3" "193385070" "193385070" "subst" "0" "00091" "OPA1_000009" "g.193385070G>T" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00010; Nucleotide change: G to T at 2818+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Possible in-frame skipping of exon 11, loss of 25 aa (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193667281G>T" "" "pathogenic" ""
"0000171482" "0" "97" "3" "193349411" "193349414" "del" "0" "00091" "OPA1_000010" "g.193349411_193349414del" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00011; Nucleotide change: Deletion of 4 nucleotides at 635_638 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193631622_193631625del" "" "pathogenic" ""
"0000171483" "0" "97" "3" "193361356" "193361357" "del" "0" "00091" "OPA1_000011" "g.193361356_193361357del" "" "{PMID:Baris 2003:14961560}" "" "NM_015560.1:c.1251_1252del 3 (MISTAKE)" "eOPA1 identifier (obsolete):OA_00012; Nucleotide change: Deletion of 3 nucleotides at 1251_1252 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643567_193643568del" "" "pathogenic" ""
"0000171484" "0" "97" "3" "193364832" "193364857" "del" "0" "00091" "OPA1_000012" "g.193364832_193364857del" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00013; Nucleotide change: Deletion of 26 nucleotides at 1590-22_1593 (reference: OPA1 transcript variant 1, NM_015560.1); Location: intron 16 to exon 17 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647043_193647068del" "" "pathogenic" ""
"0000171485" "0" "97" "3" "193372684" "193372685" "del" "0" "00091" "OPA1_000013" "g.193372684_193372685del" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00014; Nucleotide change: Deletion of 2 nucleotides at 1879_1880 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654895_193654896del" "" "pathogenic" ""
"0000171486" "0" "97" "3" "193374953" "193374958" "del" "0" "00091" "OPA1_000014" "g.193374953_193374958del" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00015; Nucleotide change: Deletion of 6 nucleotides at 2098_2103 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193657164_193657169del" "" "pathogenic" ""
"0000171487" "0" "97" "3" "193380621" "193380621" "del" "0" "00091" "OPA1_000015" "g.193380621del" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00016; Nucleotide change: Deletion of A at 2366 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662832del" "" "pathogenic" ""
"0000171488" "0" "99" "3" "193384959" "193384962" "del" "0" "00091" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000171489" "0" "97" "3" "193363569" "193363569" "dup" "0" "00091" "OPA1_000017" "g.193363569dup" "" "{PMID:Baris 2003:14961560}" "" "" "eOPA1 identifier (obsolete):OA_00018; Nucleotide change: Insertion of T between 1569 and 1570 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645780dup" "" "pathogenic" ""
"0000171490" "0" "97" "3" "193355769" "193355769" "subst" "0" "00091" "OPA1_000018" "g.193355769G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00019; Nucleotide change: G to A at 899 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637980G>A" "" "pathogenic" ""
"0000171491" "0" "97" "3" "193360553" "193360553" "subst" "0" "00091" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000171492" "0" "97" "3" "193355069" "193355069" "subst" "0" "00091" "OPA1_000020" "g.193355069G>A" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "no" "" "0" "" "" "g.193637280G>A" "" "pathogenic" ""
"0000171493" "0" "97" "3" "193360587" "193360587" "del" "0" "00091" "OPA1_000021" "g.193360587del" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00022; Nucleotide change: Deletion of G at 1016 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193642798del" "" "pathogenic" ""
"0000171494" "0" "97" "3" "193361400" "193361402" "del" "0" "00091" "OPA1_000022" "g.193361400_193361402del" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00024; Nucleotide change: Deletion of 3 nucleotides at 1296_1298 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643611_193643613del" "" "pathogenic" ""
"0000171495" "0" "97" "3" "193361805" "193361805" "del" "0" "00091" "OPA1_000023" "g.193361805del" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00025; Nucleotide change: Deletion of G at 1354 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193644016del" "" "pathogenic" ""
"0000171496" "0" "97" "3" "193364909" "193364909" "dup" "0" "00091" "OPA1_000024" "g.193364909dup" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00026; Nucleotide change: Insertion of T between 1644 and 1645 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193647120dup" "" "pathogenic" ""
"0000171497" "0" "97" "3" "193372650" "193372817" "" "0" "00091" "OPA1_000025" "g.(193366661_193372650)_(193372817_193374868)del" "" "{PMID:Alexander 2000:11017080}" "" "2013_2178del" "eOPA1 identifier (obsolete):OA_00027; Nucleotide change: Deletion of the entire exon 20 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171498" "0" "97" "3" "193349411" "193349412" "del" "0" "00091" "OPA1_000026" "g.193349411_193349412del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00028; Nucleotide change: Deletion of 2 nucleotides at 635_636 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic" ""
"0000171499" "0" "97" "3" "193354994" "193354997" "del" "0" "00091" "OPA1_000027" "g.193354994_193354997del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637205_193637208del" "" "pathogenic" ""
"0000171500" "0" "97" "3" "193355075" "193355075" "subst" "0" "00091" "OPA1_000028" "g.193355075G>A" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00030; Nucleotide change: G to A at 870+5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: In-frame skipping of exon 8, loss of 29 aa (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic" ""
"0000171501" "0" "97" "3" "193361173" "193361173" "subst" "0" "00091" "OPA1_000029" "g.193361173A>C" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00031; Nucleotide change: A to C at 1152 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643384A>C" "" "pathogenic" ""
"0000171502" "0" "97" "3" "193363406" "193363406" "subst" "0" "00091" "OPA1_000030" "g.193363406C>A" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00032; Nucleotide change: C to A at 1508 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193645617C>A" "" "pathogenic" ""
"0000171503" "0" "97" "3" "193363413" "193363413" "subst" "0" "00091" "OPA1_000031" "g.193363413A>C" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00033; Nucleotide change: A to C at 1515 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193645624A>C" "" "pathogenic" ""
"0000171504" "0" "97" "3" "193363415" "193363415" "subst" "0" "00091" "OPA1_000032" "g.193363415G>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00034; Nucleotide change: G to T at 1516+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193645626G>T" "" "pathogenic" ""
"0000171505" "0" "97" "3" "193364933" "193364933" "subst" "0.0000040778" "00091" "OPA1_000033" "g.193364933C>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00035; Nucleotide change: C to T at 1669 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193647144C>T" "" "pathogenic" ""
"0000171506" "0" "97" "3" "193366593" "193366596" "del" "0" "00091" "OPA1_000034" "g.193366593_193366596del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00036; Nucleotide change: Deletion of 4 nucleotides at 1780_1783 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648804_193648807del" "" "pathogenic" ""
"0000171507" "0" "97" "3" "193366611" "193366611" "subst" "0" "00091" "OPA1_000035" "g.193366611G>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00037; Nucleotide change: G to T at 1798 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648822G>T" "" "pathogenic" ""
"0000171508" "0" "97" "3" "193382786" "193382786" "subst" "0" "00091" "OPA1_000036" "g.193382786G>A" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00038; Nucleotide change: G to A at 2613+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193664997G>A" "" "pathogenic" ""
"0000171509" "0" "97" "3" "193384964" "193384964" "subst" "0" "00091" "OPA1_000037" "g.193384964C>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00039; Nucleotide change: C to T at 2713 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667175C>T" "" "pathogenic" ""
"0000171510" "0" "97" "3" "193385022" "193385022" "del" "0" "00091" "OPA1_000038" "g.193385022del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00040; Nucleotide change: Deletion of 1 nucleotide at 2771 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667233del" "" "pathogenic" ""
"0000171511" "0" "97" "3" "193385051" "193385051" "subst" "0" "00091" "OPA1_000039" "g.193385051C>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00041; Nucleotide change: C to T at 2800 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667262C>T" "" "pathogenic" ""
"0000171512" "0" "97" "3" "193409858" "193409861" "del" "0" "00091" "OPA1_000040" "g.193409858_193409861del" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00043; Nucleotide change: Deletion of 4 nucleotides at 2823_2826 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193692069_193692072del" "" "pathogenic" ""
"0000171513" "0" "13" "3" "193332800" "193332800" "subst" "0.00617527" "00091" "OPA1_000041" "g.193332800G>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193615011G>A" "" "benign" ""
"0000171514" "0" "13" "3" "193333531" "193333531" "subst" "0.00839548" "00091" "OPA1_000042" "g.193333531G>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00045; Nucleotide change: G to T at 420 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193615742G>T" "" "benign" ""
"0000171515" "0" "13" "3" "193334991" "193334991" "subst" "0.468334" "00091" "OPA1_000043" "g.193334991G>A" "" "{PMID:Toomes 2001:11440989}" "" "473A>G (Asn158Ser)" "eOPA1 identifier (obsolete):OA_00046; Nucleotide change: A to G at 473 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193617202G>A" "" "benign" ""
"0000171516" "0" "13" "3" "193334996" "193334996" "subst" "0" "00091" "OPA1_000044" "g.193334996G>C" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00047; Nucleotide change: G to C at 478 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193617207G>C" "" "benign" ""
"0000171517" "0" "13" "3" "193335018" "193335018" "subst" "0.00000813087" "00091" "OPA1_000045" "g.193335018C>T" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00048; Nucleotide change: C to G at 500 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193617229C>T" "" "benign" ""
"0000171518" "0" "13" "3" "193336639" "193336639" "subst" "0.425865" "00091" "OPA1_000046" "g.193336639T>C" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00049; Nucleotide change: T to C at 557-19 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193618850T>C" "" "benign" ""
"0000171519" "0" "13" "3" "193335252" "193335252" "subst" "0" "00091" "OPA1_000047" "g.193335252G>T" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00050; Nucleotide change: G to T at 556+178 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193617463G>T" "" "benign" ""
"0000171520" "0" "13" "3" "193336676" "193336676" "subst" "0.0227145" "00091" "OPA1_000048" "g.193336676C>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00051; Nucleotide change: C to T at 575 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193618887C>T" "" "benign" ""
"0000171521" "0" "13" "3" "193353360" "193353362" "del" "0" "00091" "OPA1_000049" "g.193353360_193353362del" "" "{PMID:Thiselton 2002:12036970}" "" "IVS7del(+49-51)" "eOPA1 identifier (obsolete):OA_00053; Nucleotide change: Intronic (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193635571_193635573del" "" "benign" ""
"0000171522" "0" "13" "3" "193355102" "193355102" "subst" "0.424922" "00091" "OPA1_000050" "g.193355102T>C" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00055; Nucleotide change: T to C at 870+32 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637313T>C" "" "benign" ""
"0000171523" "0" "13" "3" "193355715" "193355715" "subst" "0.0000164108" "00091" "OPA1_000051" "g.193355715A>G" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00056; Nucleotide change: A to G at 871-26 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637926A>G" "" "benign" ""
"0000171524" "0" "13" "3" "193360652" "193360652" "subst" "0" "00091" "OPA1_000052" "g.193360652A>G" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00058; Nucleotide change: A to G at 1065+18 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193642863A>G" "" "benign" ""
"0000171525" "0" "13" "3" "193360794" "193360794" "subst" "0" "00091" "OPA1_000053" "g.193360794C>A" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00059; Nucleotide change: C to A at 1096 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643005C>A" "" "benign" ""
"0000171526" "0" "13" "3" "193361448" "193361448" "subst" "0.00699524" "00091" "OPA1_000054" "g.193361448A>G" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00060; Nucleotide change: A to G at 1312+32 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643659A>G" "" "benign" ""
"0000171527" "0" "13" "3" "193361917" "193361917" "subst" "0.0660015" "00091" "OPA1_000055" "g.193361917G>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00061; Nucleotide change: G to A at 1443+23 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193644128G>A" "" "benign" ""
"0000171528" "0" "13" "3" "193363267" "193363267" "subst" "0" "00091" "OPA1_000056" "g.193363267T>C" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00062; Nucleotide change: T to C at 1444-75 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193645478T>C" "" "benign" ""
"0000171529" "0" "13" "3" "193364819" "193364819" "subst" "0.000159055" "00091" "OPA1_000057" "g.193364819A>T" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00063; Nucleotide change: A to T at 1590-35 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193647030A>T" "" "benign" ""
"0000171530" "0" "13" "3" "193364912" "193364912" "subst" "0" "00091" "OPA1_000058" "g.193364912G>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00064; Nucleotide change: G to A at 1648 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193647123G>A" "" "benign" ""
"0000171531" "0" "13" "3" "193365926" "193365926" "subst" "0.00000406425" "00091" "OPA1_000059" "g.193365926A>G" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00065; Nucleotide change: A to G at 1770+3 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648137A>G" "" "benign" ""
"0000171532" "0" "13" "3" "193365939" "193365939" "subst" "0.0896545" "00091" "OPA1_000060" "g.193365939T>G" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00066; Nucleotide change: T to G at 1770+16 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648150T>G" "" "benign" ""
"0000171533" "0" "13" "3" "193365974" "193365974" "subst" "0" "00091" "OPA1_000061" "g.193365974T>G" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00067; Nucleotide change: T to G at 1770+51 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648185T>G" "" "benign" ""
"0000171534" "0" "13" "3" "193374964" "193374964" "subst" "0.467524" "00091" "OPA1_000062" "g.193374964T>C" "" "{PMID:Toomes 2001:11810270}" "" "2274C>T" "eOPA1 identifier (obsolete):OA_00068; Nucleotide change: C to T at 2109 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193657175T>C" "" "benign" ""
"0000171535" "0" "13" "3" "193375136" "193375136" "subst" "0" "00091" "OPA1_000063" "g.193375136G>T" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00069; Nucleotide change: G to T at 2166+115 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193657347G>T" "" "benign" ""
"0000171536" "0" "13" "3" "193376593" "193376593" "subst" "0" "00091" "OPA1_000064" "g.193376593T>G" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00070; Nucleotide change: T to G at 2167-83 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193658804T>G" "" "benign" ""
"0000171537" "0" "13" "3" "193377366" "193377366" "subst" "0" "00091" "OPA1_000065" "g.193377366T>A" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00071; Nucleotide change: T to A at 2355+16 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193659577T>A" "" "benign" ""
"0000171538" "0" "13" "3" "193380456" "193380456" "del" "0" "00091" "OPA1_000066" "g.193380456del" "" "{PMID:Delettre 2001:11810270}" "" "2521-158del" "eOPA1 identifier (obsolete):OA_00072; Nucleotide change: Deletion of G at 2356-158 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193662667del" "" "benign" ""
"0000171539" "0" "13" "3" "193383943" "193383943" "subst" "0" "00091" "OPA1_000067" "g.193383943T>C" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00073; Nucleotide change: T to C at 2613-142 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193666154T>C" "" "benign" ""
"0000171540" "0" "13" "3" "193383973" "193383973" "subst" "0" "00091" "OPA1_000068" "g.193383973A>G" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00074; Nucleotide change: A to G at 2613-112 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193666184A>G" "" "benign" ""
"0000171541" "0" "13" "3" "193384203" "193384203" "subst" "0.423184" "00091" "OPA1_000069" "g.193384203T>A" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00075; Nucleotide change: T to A at 2707+25 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193666414T>A" "" "benign" ""
"0000171542" "0" "13" "3" "193384966" "193384966" "subst" "0.000637765" "00091" "OPA1_000070" "g.193384966A>G" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00076; Nucleotide change: A to G at 2715 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667177A>G" "" "benign" ""
"0000171543" "0" "13" "3" "193385092" "193385092" "subst" "0.00768228" "00091" "OPA1_000071" "g.193385092T>C" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00077; Nucleotide change: T to C at 2818+23 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667303T>C" "" "benign" ""
"0000171544" "0" "13" "3" "193384971" "193384971" "subst" "0.00000406204" "00091" "OPA1_000072" "g.193384971A>G" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00079; Nucleotide change: A to G at 2720 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667182A>G" "" "benign" ""
"0000171545" "0" "97" "3" "193361208" "193361208" "subst" "0" "00091" "OPA1_000073" "g.193361208T>G" "" "{PMID:Thiselton 2002:12036970}" "" "NM_015560.1:T1188G (MISTAKE)" "eOPA1 identifier (obsolete):OA_00080; Nucleotide change: T to G at 1188 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643419T>G" "" "pathogenic" ""
"0000171546" "0" "97" "3" "193365865" "193365865" "subst" "0.0000365821" "00091" "OPA1_000074" "g.193365865G>A" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00081; Nucleotide change: G to A at 1712 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648076G>A" "" "pathogenic" ""
"0000171547" "0" "97" "3" "193353261" "193353261" "subst" "0" "00091" "OPA1_000075" "g.193353261A>T" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00082; Nucleotide change: A to T at 733 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193635472A>T" "" "pathogenic" ""
"0000171548" "0" "97" "3" "193333560" "193333560" "subst" "0" "00091" "OPA1_000076" "g.193333560G>C" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00084; Nucleotide change: G to C at 448+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193615771G>C" "" "pathogenic" ""
"0000171549" "0" "97" "3" "193355857" "193355857" "subst" "0" "00091" "OPA1_000077" "g.193355857A>T" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00086; Nucleotide change: A to T at 984+3 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193638068A>T" "" "pathogenic" ""
"0000171550" "0" "97" "3" "193355855" "193355859" "del" "0" "00091" "OPA1_000078" "g.193355855_193355859del" "" "{PMID:Thiselton 2002:12036970}" "" "IVS9del(+1-5)" "eOPA1 identifier (obsolete):OA_00087; Nucleotide change: Deletion of intron 9 at 984+1_985-5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193638066_193638070del" "" "pathogenic" ""
"0000171551" "0" "97" "3" "193361234" "193361234" "subst" "0" "00091" "OPA1_000079" "g.193361234G>A" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00088; Nucleotide change: G to A at 1212+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Minus aa 381-404 (splicing defect, reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193643445G>A" "" "pathogenic" ""
"0000171552" "1" "97" "3" "193384949" "193384949" "subst" "0" "00091" "OPA1_000081" "g.193384949C>G" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00090; Nucleotide change: C to G at 2707-10 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193667160C>G" "" "pathogenic" ""
"0000171553" "0" "97" "3" "193332592" "193332609" "del" "0" "00091" "OPA1_000082" "g.193332592_193332609del" "" "{PMID:Thiselton 2002:12036970}" "" "112_139del18" "eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "pathogenic" ""
"0000171554" "0" "97" "3" "193361408" "193361409" "del" "0" "00091" "OPA1_000083" "g.193361408_193361409del" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00092; Nucleotide change: Deletion of GT at 1304-1305 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Frameshift, 8 novel aa, then STOP" "Germline" "" "" "0" "" "" "g.193643619_193643620del" "" "pathogenic" ""
"0000171555" "0" "97" "3" "193365913" "193365924" "del" "0" "00091" "OPA1_000084" "g.193365913_193365924del" "" "{PMID:Thiselton 2002:12036970}" "" "1924_1935del" "eOPA1 identifier (obsolete):OA_00093; Nucleotide change: Deletion of 12 nucleotides at 1756_1767 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193648124_193648135del" "" "pathogenic" ""
"0000171556" "0" "97" "3" "193374916" "193374916" "del" "0" "00091" "OPA1_000085" "g.193374916del" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00094; Nucleotide change: Deletion of nucleotide A at 2061 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Frameshift, 35 novel aa, then STOP" "Germline" "" "" "0" "" "" "g.193657127del" "" "pathogenic" ""
"0000171557" "0" "97" "3" "193409859" "193409859" "del" "0" "00091" "OPA1_000086" "g.193409859del" "" "{PMID:Thiselton 2002:12036970}" "" "2826delT" "eOPA1 identifier (obsolete):OA_00095; Nucleotide change: Deletion of T at 2826 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Frameshift, 26 novel aa, then STOP" "Germline" "" "" "0" "" "" "g.193692070del" "" "pathogenic" ""
"0000171558" "0" "97" "3" "193311172" "193311172" "subst" "0" "00091" "OPA1_000087" "g.193311172G>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00096; Nucleotide change: G to A at 6 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193593383G>A" "" "pathogenic" ""
"0000171559" "0" "97" "3" "193349405" "193349405" "subst" "0" "00091" "OPA1_000088" "g.193349405C>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193631616C>A" "" "pathogenic" ""
"0000171560" "1" "97" "3" "193355068" "193355068" "subst" "0.00000815468" "00091" "OPA1_000091" "g.193355068C>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00100; Nucleotide change: C to T at 868 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; two heterozygous missense variants c.808G>A and c.868C>T (reference: OPA1 transcript variant 1, NM_015560.1) in the same patient (semi-dominant inheritance" "Germline" "" "" "0" "" "" "g.193637279C>T" "" "pathogenic" ""
"0000171561" "0" "97" "3" "193355018" "193355018" "subst" "0" "00091" "OPA1_000090" "g.193355018A>C" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00099; Nucleotide change: A to C at 818 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637229A>C" "" "pathogenic" ""
"0000171562" "0" "97" "3" "193355069" "193355069" "subst" "0" "00091" "OPA1_000092" "g.193355069G>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00101; Nucleotide change: G to T at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637280G>T" "" "pathogenic" ""
"0000171563" "0" "97" "3" "193355802" "193355802" "del" "0" "00091" "OPA1_000093" "g.193355802del" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00102; Nucleotide change: Deletion of C at 932 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193638013del" "" "pathogenic" ""
"0000171564" "0" "97" "3" "193360637" "193360637" "subst" "0" "00091" "OPA1_000094" "g.193360637A>C" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00104; Nucleotide change: A to C at 1065+3 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642848A>C" "" "pathogenic" ""
"0000171565" "0" "97" "3" "193360770" "193360791" "del" "0" "00091" "OPA1_000095" "g.193360770_193360791del" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00105; Nucleotide change: Deletion of 22 nucleotides at 1072_1093 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193642981_193643002del" "" "pathogenic" ""
"0000171566" "0" "97" "3" "193361174" "193361175" "del" "0" "00091" "OPA1_000096" "g.193361174_193361175del" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00106; Nucleotide change: Deletion of AA at 1152_1153 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643385_193643386del" "" "pathogenic" ""
"0000171567" "0" "97" "3" "193361764" "193361764" "subst" "0" "00091" "OPA1_000097" "g.193361764A>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00107; Nucleotide change: A to T at 1313 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic" ""
"0000171568" "0" "97" "3" "193361853" "193361853" "subst" "0" "00091" "OPA1_000098" "g.193361853A>G" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00108; Nucleotide change: A to G at 1402 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193644064A>G" "" "pathogenic" ""
"0000171569" "0" "97" "3" "193364916" "193364918" "del" "0" "00091" "OPA1_000099" "g.193364916_193364918del" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00109; Nucleotide change: Deletion of TGC at 1651_1653 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193647127_193647129del" "" "pathogenic" ""
"0000171570" "0" "97" "3" "193374980" "193374993" "delins" "0" "00091" "OPA1_000100" "g.193374980_193374993delinsGGATCGACACAC" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00110; Nucleotide change: Deletion of nucleotides at 2125_2138 and insertion of GGATCGACACAC (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193657191_193657204delinsGGATCGACACAC" "" "pathogenic" ""
"0000171571" "0" "97" "3" "193377349" "193377349" "subst" "0" "00091" "OPA1_000101" "g.193377349A>G" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00111; Nucleotide change: A to G at 2354 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193659560A>G" "" "pathogenic" ""
"0000171572" "0" "97" "3" "193382786" "193382786" "subst" "0" "00091" "OPA1_000102" "g.193382786G>C" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00112; Nucleotide change: G to C at 2613+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193664997G>C" "" "pathogenic" ""
"0000171573" "0" "97" "3" "193384180" "193384180" "subst" "0" "00091" "OPA1_000103" "g.193384180T>C" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00113; Nucleotide change: T to C at 2707+2 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193666391T>C" "" "pathogenic" ""
"0000171574" "0" "97" "3" "193361785" "193361785" "subst" "0" "00091" "OPA1_000104" "g.193361785G>A" "" "{PMID:Shimizu 2002:12566046}" "" "" "eOPA1 identifier (obsolete):OA_00114; Nucleotide change: G to A at 1334 (reference: OPA1 transcript variant 1, NM_015560.1); other relevant information:: It was described that the association of Autosomal Dominant Optic Atrophy and moderate deafness may be due to this mutation (Amati-Bonneau ; Am J Ophtalmol 2003; 136:1170-1171); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643996G>A" "" "pathogenic" ""
"0000171575" "0" "97" "3" "193361236" "193361236" "subst" "0" "00091" "OPA1_000105" "g.193361236A>T" "" "{PMID:Shimizu 2002:12063046}" "" "" "eOPA1 identifier (obsolete):OA_00115; Nucleotide change: A to T at 1212+3 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643447A>T" "" "pathogenic" ""
"0000171576" "0" "97" "3" "193409888" "193409888" "dup" "0" "00091" "OPA1_000106" "g.193409888dup" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00117; Nucleotide change: Insertion of T at 2855 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193692099dup" "" "pathogenic" ""
"0000171577" "0" "97" "3" "193385067" "193385067" "subst" "0" "00091" "OPA1_000107" "g.193385067T>C" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00116; Nucleotide change: T to C at 2816 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667278T>C" "" "pathogenic" ""
"0000171578" "0" "97" "3" "193384178" "193384178" "subst" "0" "00091" "OPA1_000108" "g.193384178G>C" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00118; Nucleotide change: G to C at 2707 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect with skipping of exon 26 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193666389G>C" "" "pathogenic" ""
"0000171579" "0" "97" "3" "193384152" "193384152" "dup" "0" "00091" "OPA1_000109" "g.193384152dup" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00119; Nucleotide change: Insertion of T at 2681 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193666363dup" "" "pathogenic" ""
"0000171580" "0" "97" "3" "193374986" "193374986" "subst" "0" "00091" "OPA1_000110" "g.193374986C>T" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00120; Nucleotide change: C to T at 2131 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193657197C>T" "" "pathogenic" ""
"0000171581" "0" "97" "3" "193374884" "193374884" "del" "0" "00091" "OPA1_000111" "g.193374884del" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00121; Nucleotide change: Deletion of C at 2029 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193657095del" "" "pathogenic" ""
"0000171582" "0" "97" "3" "193361234" "193361234" "subst" "0" "00091" "OPA1_000112" "g.193361234G>T" "" "{PMID:Delettre 2001:11810270}" "" "" "eOPA1 identifier (obsolete):OA_00122; Nucleotide change: G to T at 1212+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect with putative frameshift" "Germline" "" "" "0" "" "" "g.193643445G>T" "" "pathogenic" ""
"0000171583" "0" "97" "3" "193360608" "193360608" "subst" "0" "00091" "OPA1_000113" "g.193360608G>T" "" "{PMID:Yamada 2003:12842213}" "" "" "eOPA1 identifier (obsolete):OA_00123; Nucleotide change: G to T at 1039 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193642819G>T" "" "pathogenic" ""
"0000171584" "0" "13" "3" "193364872" "193364872" "subst" "0.0255196" "00091" "OPA1_000114" "g.193364872A>C" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00124; Nucleotide change: A to C at 1608 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193647083A>C" "" "benign" ""
"0000171585" "0" "13" "3" "193385177" "193385177" "subst" "0" "00091" "OPA1_000115" "g.193385177G>A" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00125; Nucleotide change: G to A at 2818+108 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667388G>A" "" "benign" ""
"0000171586" "0" "97" "3" "193372650" "193372817" "" "0" "00091" "OPA1_000025" "g.(193366661_193372650)_(193372817_193374868)del" "" "{PMID:Toomes 2001:11440989}" "" "2013-?_2178+?del" "eOPA1 identifier (obsolete):OA_0042; Nucleotide change: Deletion of the entire exon 20 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171587" "0" "97" "3" "193311188" "193311188" "subst" "0" "00091" "OPA1_000117" "g.193311188G>T" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00147; Nucleotide change: G to T at 22 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193593399G>T" "" "pathogenic" ""
"0000171588" "0" "97" "3" "193372817" "193372817" "subst" "0" "00091" "OPA1_000118" "g.193372817G>A" "" "{PMID:Hayashi 2005:16006781}" "" "" "eOPA1 identifier (obsolete):OA_00127; Nucleotide change: G to A at 2013+1 (reference: OPA1 transcript variant 1, NM_015560.1); other relevant information: intron retention; Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "yes" "" "0" "" "" "g.193655028G>A" "" "pathogenic" ""
"0000171589" "0" "97" "3" "193365921" "193365921" "subst" "0.0000121928" "00091" "OPA1_000119" "g.193365921C>T" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00128; Nucleotide change: C to T at 1768 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193648132C>T" "" "pathogenic" ""
"0000171590" "0" "97" "3" "193376693" "193376693" "subst" "0.00000406299" "00091" "OPA1_000120" "g.193376693T>G" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00129; Nucleotide change: T to G at 2184 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193658904T>G" "" "pathogenic" ""
"0000171591" "0" "97" "3" "193353231" "193353231" "subst" "0.00000406656" "00091" "OPA1_000121" "g.193353231C>T" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00130; Nucleotide change: C to T at 703 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193635442C>T" "" "pathogenic" ""
"0000171592" "0" "97" "3" "193353252" "193353252" "subst" "0" "00091" "OPA1_000122" "g.193353252G>T" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00131; Nucleotide change: G to T at 724 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193635463G>T" "" "pathogenic" ""
"0000171593" "0" "97" "3" "193382682" "193382682" "subst" "0" "00091" "OPA1_000123" "g.193382682G>A" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00132; Nucleotide change: G to A at 2510 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193664893G>A" "" "pathogenic" ""
"0000171594" "0" "97" "3" "193360636" "193360636" "subst" "0" "00091" "OPA1_000124" "g.193360636T>C" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00133; Nucleotide change: T to C at 1065+2 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation as been reported previously in a Korean DOA family (Seong , Am J Hum Genet 73:568, 2003);Consequence: Delete exon 11 (splicing defect, reference: OPA1 isoform 1, NP_056375.1)" "Germline" "yes" "" "0" "" "" "g.193642847T>C" "" "pathogenic" ""
"0000171595" "0" "97" "3" "193361233" "193361237" "del" "0" "00091" "OPA1_000125" "g.193361233_193361237del" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00134; Nucleotide change: Deletion of TGTAA at 1212_1212+4 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 12 to intron 12 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "yes" "" "0" "" "" "g.193643444_193643448del" "" "pathogenic" ""
"0000171596" "0" "97" "3" "193355840" "193355848" "del" "0" "00091" "OPA1_000126" "g.193355840_193355848del" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00135; Nucleotide change: Deletion of CGTTCTCCA at 970 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193638051_193638059del" "" "pathogenic" ""
"0000171597" "0" "97" "3" "193361223" "193361223" "subst" "0" "00091" "OPA1_000127" "g.193361223G>A" "" "{PMID:Kim 2005:15781809}" "" "" "eOPA1 identifier (obsolete):OA_00136; Nucleotide change: G to A at 1202 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643434G>A" "" "pathogenic" ""
"0000171598" "0" "97" "3" "193364904" "193364906" "dup" "0" "00091" "OPA1_000128" "g.193364904_193364906dup" "" "{PMID:Kim 2005:15781809}" "" "" "eOPA1 identifier (obsolete):OA_00137; Nucleotide change: Duplication of GCA at 1639_1641 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647115_193647117dup" "" "pathogenic" ""
"0000171599" "0" "97" "3" "193364934" "193364934" "subst" "0" "00091" "OPA1_000129" "g.193364934G>C" "" "{PMID:Kim 2005:15781809}" "" "" "eOPA1 identifier (obsolete):OA_00138; Nucleotide change: G to C at 1670 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647145G>C" "" "pathogenic" ""
"0000171600" "0" "97" "3" "193382787" "193382787" "subst" "0" "00091" "OPA1_000130" "g.193382787T>A" "" "{PMID:Kim 2005:15781809}" "" "" "eOPA1 identifier (obsolete):OA_00139; Nucleotide change: T to A at 2613+2 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect with skipping of exon 25 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193664998T>A" "" "pathogenic" ""
"0000171601" "0" "13" "3" "193355074" "193355074" "subst" "0" "00091" "OPA1_000131" "g.193355074T>A" "" "{PMID:Puomila 2005:15948788}" "" "1035+4C>A" "eOPA1 identifier (obsolete):OA_00141; Nucleotide change: C to A at 870 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193637285T>A" "" "benign" ""
"0000171602" "0" "13" "3" "193385059" "193385059" "subst" "0.00952953" "00091" "OPA1_000132" "g.193385059G>A" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00140; Nucleotide change: G to A at 2808 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193667270G>A" "" "benign" ""
"0000171603" "0" "13" "3" "193363163" "193363163" "subst" "0" "00091" "OPA1_000133" "g.193363163G>A" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00142; Nucleotide change: G to A at 1444-179 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645374G>A" "" "benign" ""
"0000171604" "0" "13" "3" "193365978" "193365978" "subst" "0" "00091" "OPA1_000134" "g.193365978T>C" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00143; Nucleotide change: T to C at 1770+55 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648189T>C" "" "benign" ""
"0000171605" "0" "13" "3" "193376627" "193376627" "subst" "0" "00091" "OPA1_000135" "g.193376627A>G" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00144; Nucleotide change: A to G at 2167-49 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658838A>G" "" "benign" ""
"0000171606" "0" "13" "3" "193380457" "193380457" "del" "0" "00091" "OPA1_000136" "g.193380457del" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00145; Nucleotide change: Deletion of t at 2356-154 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662668del" "" "benign" ""
"0000171607" "0" "13" "3" "193380516" "193380516" "dup" "0" "00091" "OPA1_000137" "g.193380516dup" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00146; Nucleotide change: Insertion of t at 2356-95 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662727dup" "" "benign" ""
"0000171608" "0" "97" "3" "193382694" "193382694" "subst" "0" "00091" "OPA1_000138" "g.193382694A>G" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00149; Nucleotide change: A to G at 2522 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193664905A>G" "" "pathogenic" ""
"0000171609" "0" "97" "3" "193332718" "193332718" "subst" "0.000349653" "00091" "OPA1_000139" "g.193332718A>G" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614929A>G" "" "pathogenic" ""
"0000171610" "0" "97" "3" "193385031" "193385031" "subst" "0" "00091" "OPA1_000140" "g.193385031T>A" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00150; Nucleotide change: T to A 2780 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193667242T>A" "" "pathogenic" ""
"0000171611" "0" "97" "3" "193409916" "193409916" "subst" "0" "00091" "OPA1_000141" "g.193409916A>C" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00151; Nucleotide change: A to C 2883 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193692127A>C" "" "pathogenic" ""
"0000171612" "0" "97" "3" "193364921" "193364921" "del" "0" "00091" "OPA1_000142" "g.193364921del" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00152; Nucleotide change: Deletion of T at 1654 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647132del" "" "pathogenic" ""
"0000171613" "0" "97" "3" "193372732" "193372732" "del" "0" "00091" "OPA1_000143" "g.193372732del" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00153; Nucleotide change: Deletion of C at 1929 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654943del" "" "pathogenic" ""
"0000171614" "0" "13" "3" "193311295" "193311295" "subst" "0" "00091" "OPA1_000144" "g.193311295G>A" "" "{PMID:Han 2006:16617242}" "" "c.1+97G>A" "eOPA1 identifier (obsolete):OA_00154; Nucleotide change: G to A at 1+97 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193593506G>A" "" "benign" ""
"0000171615" "0" "13" "3" "193353194" "193353194" "subst" "0" "00091" "OPA1_000145" "g.193353194T>G" "" "{PMID:Han 2006:16617242}" "" "NM_015560.1 c.6-13T>G" "eOPA1 identifier (obsolete):OA_00155; Nucleotide change: T to G at 6-13 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193635405T>G" "" "benign" ""
"0000171616" "0" "13" "3" "193363438" "193363438" "subst" "0" "00091" "OPA1_000146" "g.193363438T>A" "" "{PMID:Han 2006:16617242}" "" "NM_015560.1 c.15+24T>A" "eOPA1 identifier (obsolete):OA_00156; Nucleotide change: T to A at 15+24 (reference: OPA1 transcript variant 1, NM_015560.1)\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.193645649T>A" "" "benign" ""
"0000171617" "0" "13" "3" "193363484" "193363484" "subst" "0" "00091" "OPA1_000147" "g.193363484C>T" "" "{PMID:Han 2006:16617242}" "" "NM_015560.1 c.15-33C>T" "eOPA1 identifier (obsolete):OA_00157; Nucleotide change: C to T at 15-33 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645695C>T" "" "benign" ""
"0000171618" "0" "13" "3" "0" "0" "subst" "0" "00091" "chr3_000000" "g.?" "" "{PMID:Han 2006:16617242}" "" "26+12T>G" "eOPA1 identifier (obsolete):OA_00158; Nucleotide change: T to G at 26+12 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000171619" "0" "13" "3" "0" "0" "subst" "0" "00091" "OPA1_000149" "g.?" "" "{PMID:Han 2006:16617242}" "" "27-5C>T" "eOPA1 identifier (obsolete):OA_00159; Nucleotide change: C to T at 27-5 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000171620" "0" "97" "3" "193361764" "193361764" "subst" "0" "00091" "OPA1_000150" "g.193361764A>G" "" "{PMID:Dadgar 2006:16698014}" "" "" "eOPA1 identifier (obsolete):OA_00160; Nucleotide change: A to G at 1313 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643975A>G" "" "pathogenic" ""
"0000171621" "0" "97" "3" "193360838" "193360838" "subst" "0" "00091" "OPA1_000151" "g.193360838G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00161; Nucleotide change: G to A at 1140 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193643049G>A" "" "pathogenic" ""
"0000171622" "0" "97" "3" "193384076" "193384076" "subst" "0" "00091" "OPA1_000152" "g.193384076A>G" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00162; Nucleotide change: A to G at 2614-9 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193666287A>G" "" "pathogenic" ""
"0000171623" "0" "97" "3" "193384958" "193384958" "subst" "0" "00091" "OPA1_000153" "g.193384958G>T" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00163; Nucleotide change: G to T at 2708-1 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193667169G>T" "" "pathogenic" ""
"0000171624" "0" "97" "3" "193364970" "193364970" "subst" "0" "00091" "OPA1_000154" "g.193364970G>T" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00164; Nucleotide change: G to T at 1705+1 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193647181G>T" "" "pathogenic" ""
"0000171625" "0" "97" "3" "193372816" "193372816" "subst" "0" "00091" "OPA1_000155" "g.193372816G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00165; Nucleotide change: G to A at 2013 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: The c.2013G>A mutation results in the insertion of the last 25 nucleotides of the intron 20 by activation of a cryptic donor splice site within intron 20 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "yes" "" "0" "" "" "g.193655027G>A" "" "pathogenic" ""
"0000171626" "0" "97" "3" "193374868" "193374868" "subst" "0" "00091" "OPA1_000156" "g.193374868G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00166; Nucleotide change: G to A at 2014-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Activation of a cryptic acceptor site, deletion of the first nucleotide in exon 21 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "yes" "" "0" "" "" "g.193657079G>A" "" "pathogenic" ""
"0000171627" "0" "97" "3" "193365923" "193365923" "subst" "0" "00091" "OPA1_000157" "g.193365923G>C" "" "{PMID:Amati-Bonneau 2005:15617556}" "" "" "eOPA1 identifier (obsolete):OA_00167; Nucleotide change: G to C at 1770 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "yes" "" "0" "" "" "g.193648134G>C" "" "pathogenic" ""
"0000171628" "0" "97" "3" "193332660" "193332660" "subst" "0.00000410796" "00091" "OPA1_000158" "g.193332660C>T" "" "{PMID:Nakamura 2006:16513463}" "" "" "eOPA1 identifier (obsolete):OA_00168; Nucleotide change: C to T at 181 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193614871C>T" "" "pathogenic" ""
"0000171629" "0" "97" "3" "193353256" "193353256" "subst" "0" "00091" "OPA1_000159" "g.193353256T>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00246; Nucleotide change: T to A at 728 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193635467T>A" "" "pathogenic" ""
"0000171630" "0" "97" "3" "193364899" "193364899" "subst" "0" "00091" "OPA1_000160" "g.193364899C>A" "" "{PMID:Nakamura 2006:16513463}" "" "" "eOPA1 identifier (obsolete):OA_00169; Nucleotide change: C to A at 1635 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193647110C>A" "" "pathogenic" ""
"0000171631" "0" "97" "3" "193382709" "193382709" "dup" "0" "00091" "OPA1_000161" "g.193382709dup" "" "{PMID:Nakamura 2006:16513463}" "" "" "eOPA1 identifier (obsolete):OA_00170; Nucleotide change: Insertion of T at 2538 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193664920dup" "" "pathogenic" ""
"0000171632" "0" "97" "3" "193382762" "193382762" "dup" "0" "00091" "OPA1_000162" "g.193382762dup" "" "{PMID:Nakamura 2006:16513463}" "" "" "eOPA1 identifier (obsolete):OA_00171; Nucleotide change: Insertion of C at 2591 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193664973dup" "" "pathogenic" ""
"0000171633" "0" "97" "3" "193355816" "193355816" "subst" "0" "00091" "OPA1_000163" "g.193355816A>T" "" "{PMID:Nakamura 2006:16513463}" "" "" "eOPA1 identifier (obsolete):OA_00172; Nucleotide change: A to T at 946 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193638027A>T" "" "pathogenic" ""
"0000171634" "0" "97" "3" "193355804" "193355804" "subst" "0" "00091" "OPA1_000164" "g.193355804C>T" "" "{PMID:Cardaioli 2006:16331355}" "" "" "eOPA1 identifier (obsolete):OA_00173; Nucleotide change: C to T at 934 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193638015C>T" "" "pathogenic" ""
"0000171635" "0" "97" "3" "193332669" "193332669" "del" "0" "00091" "OPA1_000165" "g.193332669del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00174; Nucleotide change: Deletion of T at 189 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614880del" "" "pathogenic" ""
"0000171636" "0" "97" "3" "193332633" "193332633" "subst" "0" "02104" "OPA1_000166" "g.193332633C>T" "" "{PMID:Ban 2007:17579882}" "" "" "eOPA1 identifier (obsolete):OA_00175; Nucleotide change: C to T at 154 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614844C>T" "" "pathogenic" ""
"0000171637" "0" "97" "3" "193332763" "193332763" "subst" "0.00014771" "00091" "OPA1_000167" "g.193332763C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00176; Nucleotide change: C to T at 284 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614974C>T" "" "pathogenic" ""
"0000171638" "0" "97" "3" "193333472" "193333472" "subst" "0" "00091" "OPA1_000168" "g.193333472C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00177; Nucleotide change: C to T at 361 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193615683C>T" "" "pathogenic" ""
"0000171639" "0" "97" "3" "193333561" "193333561" "subst" "0" "00091" "OPA1_000169" "g.193333561T>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00178; Nucleotide change: T to G at 448+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193615772T>G" "" "pathogenic" ""
"0000171640" "0" "97" "3" "193349441" "193349441" "subst" "0.0000122051" "00091" "OPA1_000170" "g.193349441T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00179; Nucleotide change: T to C at 665 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193631652T>C" "" "pathogenic" ""
"0000171641" "0" "97" "3" "193355799" "193355799" "subst" "0.0000162456" "00091" "OPA1_000171" "g.193355799A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00180; Nucleotide change: A to G at 929 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193638010A>G" "" "pathogenic" ""
"0000171642" "0" "97" "3" "193360843" "193360843" "subst" "0" "00091" "OPA1_000172" "g.193360843G>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00181; Nucleotide change: G to C at 1140+5 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643054G>C" "" "pathogenic" ""
"0000171643" "0" "97" "3" "193354983" "193354983" "subst" "0" "00091" "OPA1_000173" "g.193354983G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00182; Nucleotide change: G to A at 784-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637194G>A" "" "pathogenic" ""
"0000171644" "0" "95" "3" "193361167" "193361167" "subst" "0.000634322" "00091" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "pathogenic" ""
"0000171645" "0" "97" "3" "193361235" "193361235" "subst" "0" "00091" "OPA1_000175" "g.193361235T>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00184; Nucleotide change: T to G at 1212+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643446T>G" "" "pathogenic" ""
"0000171646" "0" "97" "3" "193361238" "193361238" "subst" "0" "00091" "OPA1_000176" "g.193361238G>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00185; Nucleotide change: G to C at 1212+5 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643449G>C" "" "pathogenic" ""
"0000171647" "0" "97" "3" "193361315" "193361315" "subst" "0" "00091" "OPA1_000177" "g.193361315A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00186; Nucleotide change: A to G at 1213-2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643526A>G" "" "pathogenic" ""
"0000171648" "0" "97" "3" "193361766" "193361769" "del" "0" "00091" "OPA1_000178" "g.193361766_193361769del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00187; Nucleotide change: Deletion of GGAT at 1315_1318 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643977_193643980del" "" "pathogenic" ""
"0000171649" "0" "97" "3" "193361797" "193361797" "subst" "0" "00091" "OPA1_000179" "g.193361797C>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00188; Nucleotide change: C to G at 1346 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193644008C>G" "" "pathogenic" ""
"0000171650" "0" "97" "3" "193361763" "193361763" "subst" "0" "00091" "OPA1_000180" "g.193361763G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00189; Nucleotide change: G to A at 1313-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643974G>A" "" "pathogenic" ""
"0000171651" "0" "97" "3" "193363341" "193363341" "subst" "0" "00091" "OPA1_000181" "g.193363341G>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00190; Nucleotide change: G to C at 1444-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Loss of 24 aa (splicing defect)" "Germline" "" "" "0" "" "" "g.193645552G>C" "" "pathogenic" ""
"0000171652" "0" "97" "3" "193363372" "193363373" "delins" "0" "00091" "OPA1_000182" "g.193363372_193363373delinsTA" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00191; Nucleotide change: CC to TA at 1474_1475 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645583_193645584delinsTA" "" "pathogenic" ""
"0000171653" "0" "97" "3" "193363357" "193363357" "subst" "0" "00091" "OPA1_000183" "g.193363357G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00192; Nucleotide change: G to A at 1459 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645568G>A" "" "pathogenic" ""
"0000171654" "0" "97" "3" "193363395" "193363395" "del" "0" "00091" "OPA1_000184" "g.193363395del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00193; Nucleotide change: Deletion of T at 1497 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645606del" "" "pathogenic" ""
"0000171655" "0" "97" "3" "193363413" "193363413" "subst" "0" "00091" "OPA1_000185" "g.193363413A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00194; Nucleotide change: A to G at 1515 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193645624A>G" "" "pathogenic" ""
"0000171656" "0" "97" "3" "193363345" "193363345" "subst" "0" "00091" "OPA1_000186" "g.193363345C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00195; Nucleotide change: C to T at 1447 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645556C>T" "" "pathogenic" ""
"0000171657" "0" "97" "3" "193363571" "193363571" "del" "0" "00091" "OPA1_000187" "g.193363571del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00196; Nucleotide change: Deletion of A at 1571 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645782del" "" "pathogenic" ""
"0000171658" "0" "97" "3" "193363560" "193363562" "del" "0" "00091" "OPA1_000188" "g.193363560_193363562del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00197; Nucleotide change: Deletion of GAA at 1558_1560 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645771_193645773del" "" "pathogenic" ""
"0000171659" "0" "97" "3" "193364931" "193364932" "dup" "0" "00091" "OPA1_000189" "g.193364931_193364932dup" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00252; Nucleotide change: Duplication of TA at 1667_1668 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647142_193647143dup" "" "pathogenic" ""
"0000171660" "0" "97" "3" "193364899" "193364899" "subst" "0" "00091" "OPA1_000190" "g.193364899C>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00199; Nucleotide change: C to G at 1635 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647110C>G" "" "pathogenic" ""
"0000171661" "0" "97" "3" "193365924" "193365924" "del" "0" "00091" "OPA1_000191" "g.193365924del" "" "{PMID:Ferre 2009:19319978}" "" "1935del" "eOPA1 identifier (obsolete):OA_00200; Nucleotide change: Deletion of G at 1770 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648135del" "" "pathogenic" ""
"0000171662" "0" "97" "3" "193365923" "193365923" "subst" "0" "00091" "OPA1_000192" "g.193365923G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00201; Nucleotide change: G to T at 1770 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648134G>T" "" "pathogenic" ""
"0000171663" "0" "97" "3" "193366646" "193366649" "del" "0" "00091" "OPA1_000193" "g.193366646_193366649del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00202; Nucleotide change: Deletion of TACA at 1833_1836 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648857_193648860del" "" "pathogenic" ""
"0000171664" "0" "97" "3" "193366661" "193366665" "del" "0" "00091" "OPA1_000194" "g.193366661_193366665del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00203; Nucleotide change: Deletion of GGTAA at 1847_1847+4 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 19 to intron 19 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648872_193648876del" "" "pathogenic" ""
"0000171665" "0" "97" "3" "193366661" "193366661" "subst" "0" "00091" "OPA1_000195" "g.193366661G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00204; Nucleotide change: G to T at 1847+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648872G>T" "" "pathogenic" ""
"0000171666" "0" "97" "3" "193372651" "193372651" "subst" "0" "00091" "OPA1_000196" "g.193372651G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00205; Nucleotide change: G to A at 1848 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654862G>A" "" "pathogenic" ""
"0000171667" "0" "97" "3" "193372682" "193372682" "subst" "0" "00091" "OPA1_000197" "g.193372682A>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00206; Nucleotide change: A to T at 1879 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654893A>T" "" "pathogenic" ""
"0000171668" "0" "97" "3" "193372694" "193372695" "ins" "0" "00091" "OPA1_000198" "g.193372694_193372695insN[41]" "" "{PMID:Ferre 2009:19319978}" "" "c.1891_1892ins41 splicing defect" "eOPA1 identifier (obsolete):OA_00207; Nucleotide change: Insertion of 41 nucleotides at 1891_1892 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171669" "0" "97" "3" "193372740" "193372740" "subst" "0" "00091" "OPA1_000199" "g.193372740C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00208; Nucleotide change: C to T at 1937 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654951C>T" "" "pathogenic" ""
"0000171670" "0" "97" "3" "193372695" "193372696" "del" "0" "00091" "OPA1_000200" "g.193372695_193372696del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00209; Nucleotide change: Deletion of AT at 1892_1893 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654906_193654907del" "" "pathogenic" ""
"0000171671" "0" "97" "3" "193372817" "193372817" "subst" "0" "00091" "OPA1_000201" "g.193372817G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00210; Nucleotide change: G to T at 2013+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193655028G>T" "" "pathogenic" ""
"0000171672" "0" "97" "3" "193372650" "193372650" "subst" "0" "00091" "OPA1_000202" "g.193372650G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00211; Nucleotide change: G to A at 1848-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193654861G>A" "" "pathogenic" ""
"0000171673" "0" "97" "3" "193374914" "193374915" "del" "0" "00091" "OPA1_000203" "g.193374914_193374915del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00212; Nucleotide change: Deletion of GA at 2059_2060 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193657125_193657126del" "" "pathogenic" ""
"0000171674" "0" "97" "3" "193376706" "193376706" "subst" "0" "00091" "OPA1_000204" "g.193376706C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00213; Nucleotide change: C to T at 2197 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000171675" "0" "97" "3" "193377298" "193377298" "subst" "0" "00091" "OPA1_000205" "g.193377298G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00214; Nucleotide change: G to A at 2303 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193659509G>A" "" "pathogenic" ""
"0000171676" "0" "97" "3" "193377336" "193377336" "subst" "0.00016882" "00091" "OPA1_000206" "g.193377336C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00215; Nucleotide change: C to T at 2341 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193659547C>T" "" "pathogenic" ""
"0000171677" "0" "97" "3" "193380725" "193380725" "subst" "0" "00091" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000171678" "0" "97" "3" "193380753" "193380753" "subst" "0" "00091" "OPA1_000208" "g.193380753T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00217; Nucleotide change: T to C at 2496+3 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193662964T>C" "" "pathogenic" ""
"0000171679" "0" "97" "3" "193380752" "193380752" "subst" "0" "00091" "OPA1_000209" "g.193380752G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00218; Nucleotide change: G to T at 2496 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193662963G>T" "" "pathogenic" ""
"0000171680" "0" "97" "3" "193382762" "193382762" "subst" "0" "00091" "OPA1_000210" "g.193382762C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00219; Nucleotide change: C to T at 2590 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193664973C>T" "" "pathogenic" ""
"0000171681" "0" "97" "3" "193384121" "193384121" "subst" "0" "00091" "OPA1_000211" "g.193384121C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00220; Nucleotide change: C to T at 2650 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193666332C>T" "" "pathogenic" ""
"0000171682" "0" "97" "3" "193384116" "193384116" "subst" "0" "00091" "OPA1_000212" "g.193384116G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00221; Nucleotide change: G to T at 2645 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193666327G>T" "" "pathogenic" ""
"0000171683" "0" "97" "3" "193385071" "193385071" "subst" "0" "00091" "OPA1_000213" "g.193385071T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00222; Nucleotide change: T to C at 2818+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193667282T>C" "" "pathogenic" ""
"0000171684" "0" "97" "3" "193409879" "193409879" "subst" "0" "00091" "OPA1_000214" "g.193409879T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00223; Nucleotide change: T to C at 2846 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193692090T>C" "" "pathogenic" ""
"0000171685" "0" "97" "3" "193365858" "193365858" "subst" "0" "00091" "OPA1_000215" "g.193365858G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00224; Nucleotide change: G to A at 1706-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648069G>A" "" "pathogenic" ""
"0000171686" "0" "97" "3" "193365925" "193365925" "subst" "0" "00091" "OPA1_000216" "g.193365925T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00225; Nucleotide change: T to C at 1770+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648136T>C" "" "pathogenic" ""
"0000171687" "0" "97" "3" "193366582" "193366582" "subst" "0.00000406802" "00091" "OPA1_000217" "g.193366582A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00226; Nucleotide change: A to G at 1771-2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648793A>G" "" "pathogenic" ""
"0000171688" "0" "97" "3" "193332784" "193332784" "subst" "0.000012308" "00091" "OPA1_000218" "g.193332784A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614995A>G" "" "pathogenic" ""
"0000171689" "0" "97" "3" "193355748" "193355753" "del" "0" "00091" "OPA1_000219" "g.193355748_193355753del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00228; Nucleotide change: Deletion of GTGGTT nucleotides at 877_882 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193637959_193637964del" "" "pathogenic" ""
"0000171690" "0" "97" "3" "193360767" "193360767" "subst" "0.0000284852" "00091" "OPA1_000220" "g.193360767G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00229; Nucleotide change: G to A at 1069 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193642978G>A" "" "pathogenic" ""
"0000171691" "0" "97" "3" "193361208" "193361208" "subst" "0" "00091" "OPA1_000221" "g.193361208T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00230; Nucleotide change: T to C at 1187 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643419T>C" "" "pathogenic" ""
"0000171692" "0" "97" "3" "193361392" "193361392" "subst" "0" "00091" "OPA1_000222" "g.193361392A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00231; Nucleotide change: A to G at 1288 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643603A>G" "" "pathogenic" ""
"0000171693" "0" "97" "3" "193361389" "193361394" "del" "0" "00091" "OPA1_000223" "g.193361389_193361394del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00232; Nucleotide change: Deletion of CCTAAT at 1285_1290 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643600_193643605del" "" "pathogenic" ""
"0000171694" "0" "97" "3" "193361838" "193361843" "dup" "0" "00091" "OPA1_000224" "g.193361838_193361843dup" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00233; Nucleotide change: Duplication of ATATTC at 1387_1392 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193644049_193644054dup" "" "pathogenic" ""
"0000171695" "0" "97" "3" "193363341" "193363341" "subst" "0" "00091" "OPA1_000225" "g.193363341G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00234; Nucleotide change: G to T at 1444-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193645552G>T" "" "pathogenic" ""
"0000171696" "0" "97" "3" "193364916" "193364916" "subst" "0" "00091" "OPA1_000226" "g.193364916G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00235; Nucleotide change: G to A at 1652 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647127G>A" "" "pathogenic" ""
"0000171697" "0" "97" "3" "193365922" "193365922" "subst" "0.0000325142" "00091" "OPA1_000227" "g.193365922G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00236; Nucleotide change: G to A at 1769 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648133G>A" "" "pathogenic" ""
"0000171698" "0" "97" "3" "193366660" "193366660" "subst" "0" "00091" "OPA1_000228" "g.193366660G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00237; Nucleotide change: G to A at 1847 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648871G>A" "" "pathogenic" ""
"0000171699" "0" "97" "3" "193380723" "193380723" "subst" "0" "00091" "OPA1_000229" "g.193380723C>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00238; Nucleotide change: C to A at 2468 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662934C>A" "" "pathogenic" ""
"0000171700" "0" "97" "3" "193382741" "193382741" "subst" "0" "00091" "OPA1_000230" "g.193382741C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00239; Nucleotide change: C to T at 2569 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic" ""
"0000171701" "0" "97" "3" "193384084" "193384084" "subst" "0" "00091" "OPA1_000231" "g.193384084G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00240; Nucleotide change: G to A at 2614-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193666295G>A" "" "pathogenic" ""
"0000171702" "0" "97" "3" "193384180" "193384180" "subst" "0" "00091" "OPA1_000232" "g.193384180T>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00241; Nucleotide change: T to G at 2707+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193666391T>G" "" "pathogenic" ""
"0000171703" "0" "97" "3" "193384976" "193384977" "del" "0" "00091" "OPA1_000233" "g.193384976_193384977del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00242; Nucleotide change: Deletion of AA at 2725_2726 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193667187_193667188del" "" "pathogenic" ""
"0000171704" "0" "97" "3" "193361767" "193361767" "subst" "0" "02105" "OPA1_000234" "g.193361767G>T" "" "{PMID:Liguori 2008:18204809}" "" "" "eOPA1 identifier (obsolete):OA_00243; Nucleotide change: G to T at 1316 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193643978G>T" "" "pathogenic" ""
"0000171705" "0" "97" "3" "193343942" "193343942" "subst" "0.0000284336" "00091" "OPA1_000235" "g.193343942G>A" "" "{PMID:Cornille 2008:18360822}" "" "" "eOPA1 identifier (obsolete):OA_00244; Nucleotide change: G to A at 740 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation in alternate spliced exon" "Germline" "no" "" "0" "" "" "g.193626153G>A" "" "pathogenic" ""
"0000171706" "0" "97" "3" "193332591" "193332591" "subst" "0" "00091" "OPA1_000236" "g.193332591C>T" "" "{PMID:Nakamura 2006:16513463}" "" "" "eOPA1 identifier (obsolete):OA_00245; Nucleotide change: C to T at 112 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193614802C>T" "" "pathogenic" ""
"0000171707" "0" "97" "3" "193355071" "193355071" "subst" "0" "00091" "OPA1_000237" "g.193355071G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00247; Nucleotide change: G to A at 870+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637282G>T" "" "pathogenic" ""
"0000171708" "0" "97" "3" "193355855" "193355859" "del" "0" "00091" "OPA1_000238" "g.193355855_193355859del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00248; Nucleotide change: Deletion of AGGTA at 983_984+3 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 9 to intron 9 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193638066_193638070del" "" "pathogenic" ""
"0000171709" "0" "97" "3" "193355740" "193355740" "subst" "0" "00091" "OPA1_000239" "g.193355740G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00249; Nucleotide change: G to A at 871-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637951G>A" "" "pathogenic" ""
"0000171710" "0" "97" "3" "193366664" "193366667" "del" "0" "00091" "OPA1_000240" "g.193366664_193366667del" "" "{PMID:Ferre 2009:19319978}, Mavrogiannis LA, Charlton RS (unpublished), {PMID:Bolognini 2017:28245802}" "" "NM_015560.1:c.1847+1_1847+4del" "eOPA1 identifier (obsolete):OA_00259; Update: c.1847+4_1847+7del according to 3\' rule; Consequence: Skipping of exon 21 and 22 (Bolognini , 2017)" "Germline" "" "" "0" "" "" "g.193648875_193648878del" "" "pathogenic" ""
"0000171711" "0" "97" "3" "193360636" "193360636" "subst" "0" "00091" "OPA1_000241" "g.193360636T>G" "" "{PMID:Kim 2005:15781809}" "" "" "eOPA1 identifier (obsolete):OA_00251; Nucleotide change: T to G at 1065+2 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642847T>G" "" "pathogenic" ""
"0000171712" "0" "97" "3" "193377351" "193377351" "subst" "0" "00091" "OPA1_000242" "g.193377351G>A" "" "{PMID:Nakamura 2005:16021496}" "" "" "eOPA1 identifier (obsolete):OA_00253; Nucleotide change: G to A at 2355+1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193659562G>A" "" "pathogenic" ""
"0000171713" "0" "97" "3" "193380755" "193380755" "subst" "0" "00091" "OPA1_000243" "g.193380755A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00254; Nucleotide change: A to G at 2496+4 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193662966A>G" "" "pathogenic" ""
"0000171714" "0" "97" "3" "193384131" "193384131" "subst" "0" "00091" "OPA1_000244" "g.193384131T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00255; Nucleotide change: T to C at 2660 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193666342T>C" "" "pathogenic" ""
"0000171715" "0" "97" "3" "193366591" "193366591" "subst" "0" "00091" "OPA1_000245" "g.193366591T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00256; Nucleotide change: T to C at 1778 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648802T>C" "" "pathogenic" ""
"0000171716" "0" "97" "3" "193385045" "193385045" "subst" "0.0000162441" "00091" "OPA1_000246" "g.193385045C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00257; Nucleotide change: C to C at 2794 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193667256C>T" "" "pathogenic" ""
"0000171717" "0" "97" "3" "193409881" "193409882" "del" "0" "00091" "OPA1_000247" "g.193409881_193409882del" "" "{PMID:Chen 2007:17188070}" "" "" "eOPA1 identifier (obsolete):OA_00260; Nucleotide change: Deletion of GA at 2848_2849 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193692092_193692093del" "" "pathogenic" ""
"0000171718" "0" "97" "3" "193349407" "193349410" "del" "0" "00091" "OPA1_000248" "g.193349407_193349410del" "" "{PMID:Cohn 2007:17306754}" "" "" "eOPA1 identifier (obsolete):OA_00261; Nucleotide change: Deletion of GACA at 631_634 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193631618_193631621del" "" "pathogenic" ""
"0000171719" "0" "97" "3" "193355807" "193355808" "delins" "0" "00091" "OPA1_000249" "g.193355807_193355808delinsGA" "" "{PMID:Cohn 2007:17306754}" "" "" "eOPA1 identifier (obsolete):OA_00262; Nucleotide change: Deletion of AT at 937_938 and insertion of GA (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193638018_193638019delinsGA" "" "pathogenic" ""
"0000171720" "0" "97" "3" "193360824" "193360824" "subst" "0" "00091" "OPA1_000250" "g.193360824A>G" "" "{PMID:Cohn 2007:17306754}" "" "" "eOPA1 identifier (obsolete):OA_00263; Nucleotide change: A to G at 1126 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643035A>G" "" "pathogenic" ""
"0000171721" "0" "97" "3" "193361861" "193361898" "del" "0" "00091" "OPA1_000251" "g.193361861_193361898del" "" "{PMID:Spinazzi 2009:18678599}" "" "" "eOPA1 identifier (obsolete):OA_00264; Nucleotide change: Deletion of 38 nucleotides at 1410_1443 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193644072_193644109del" "" "pathogenic" ""
"0000171722" "0" "97" "3" "193366590" "193366592" "del" "0" "00091" "OPA1_000252" "g.193366590_193366592del" "" "{PMID:Yen 2010:19969356}" "" "" "eOPA1 identifier (obsolete):OA_00265; Nucleotide change: Deletion of ACT on exon 19 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648801_193648803del" "" "pathogenic" ""
"0000171723" "0" "97" "3" "193332823" "193332823" "subst" "0.0002257" "00091" "OPA1_000253" "g.193332823C>T" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00266; Nucleotide change: C to T at 344 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193615034C>T" "" "pathogenic" ""
"0000171724" "0" "13" "3" "193343970" "193343970" "subst" "0.0000040621" "00091" "OPA1_000254" "g.193343970C>G" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00267; Nucleotide change: C to G at 768 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193626181C>G" "" "benign" ""
"0000171725" "1" "13" "3" "193343970" "193343970" "subst" "0.0000040621" "00091" "OPA1_000254" "g.193343970C>G" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;c ompound heterozygous mutation for C to G at 768 and A to G at 1019 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193626181C>G" "" "benign" ""
"0000171726" "0" "93" "3" "193360769" "193360769" "subst" "0.00266927" "00091" "OPA1_000256" "g.193360769A>G" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00269; Nucleotide change: A to G at 1071 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: In-frame skipping of exon 12 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193642980A>G" "" "likely benign" ""
"0000171727" "0" "97" "3" "193361778" "193361778" "subst" "0" "00091" "OPA1_000257" "g.193361778G>A" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00270; Nucleotide change: G to A at 1327 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643989G>A" "" "pathogenic" ""
"0000171728" "0" "97" "3" "193363360" "193363360" "subst" "0" "00091" "OPA1_000258" "g.193363360G>A" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00271; Nucleotide change: G to A at 1462 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645571G>A" "" "pathogenic" ""
"0000171729" "1" "97" "3" "193349411" "193349412" "del" "0" "00091" "OPA1_000026" "g.193349411_193349412del" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00272; Nucleotide change: Deletion of AA at 635_636 and G to A at 1642 with alleles unknown (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 6 to exon 17 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic" ""
"0000171730" "0" "97" "3" "193363382" "193363382" "subst" "0" "00091" "OPA1_000260" "g.193363382C>T" "" "{PMID:Yu-Wai-Man 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00273; Nucleotide change: C to T at 1484 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645593C>T" "" "pathogenic" ""
"0000171731" "0" "97" "3" "193355746" "193355748" "del" "0" "00091" "OPA1_000261" "g.193355746_193355748del" "" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "eOPA1 identifier (obsolete):OA_00275; Nucleotide change: Deletion of TGT at 876_878 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "yes" "" "0" "" "" "g.193637957_193637959del" "" "pathogenic" ""
"0000171732" "0" "97" "3" "193385074" "193385074" "subst" "0" "00091" "OPA1_000262" "g.193385074G>A" "" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "eOPA1 identifier (obsolete):OA_00276; Nucleotide change: G to A at 2818+5 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "yes" "" "0" "" "" "g.193667285G>A" "" "pathogenic" ""
"0000171733" "0" "97" "3" "193349415" "193349416" "del" "0" "00091" "OPA1_000263" "g.193349415_193349416del" "" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "eOPA1 identifier (obsolete):OA_00277; Nucleotide change: Deletion of AG at 638_639 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "yes" "" "0" "" "" "g.193631626_193631627del" "" "pathogenic" ""
"0000171734" "0" "97" "3" "193355759" "193355759" "subst" "0" "00091" "OPA1_000264" "g.193355759C>T" "" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "eOPA1 identifier (obsolete):OA_00278; Nucleotide change: C to T at 889 (nonsense mutation) (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193637970C>T" "" "pathogenic" ""
"0000171735" "0" "97" "3" "193361219" "193361219" "subst" "0" "00091" "OPA1_000265" "g.193361219C>T" "" "{PMID:Yu-Wai-Man 2010:20417570}" "" "" "eOPA1 identifier (obsolete):OA_00279; Nucleotide change: C to T at 1198 (missense mutation) (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "yes" "" "0" "" "" "g.193643430C>T" "" "pathogenic" ""
"0000171736" "0" "97" "3" "193311166" "193336726" "" "0" "00091" "OPA1_000266" "g.(192802437_193311166)_(193336726_193343880)del" "" "{PMID:Fuhrmann 2009:19181907}" "" "del ex1-5" "eOPA1 identifier (obsolete):OA_00280; Nucleotide change: Deletion of exons 1-5 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 5 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5\' markers D3S1601 and D3S3642 not deleted" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171737" "0" "97" "3" "193380025" "193382053" "del" "0" "00091" "OPA1_000267" "g.193380025_193382053del" "" "{PMID:Fuhrmann 2009:19181907}" "" "del ex24" "eOPA1 identifier (obsolete):OA_00281; Nucleotide change: Deletion of exon 24 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193662236_193664264del" "" "pathogenic" ""
"0000171738" "0" "97" "3" "193311166" "193385070" "" "0" "00091" "OPA1_000268" "g.(191677608_193311166)_(193385070_193409851)del" "" "{PMID:Fuhrmann 2009:19181907}" "" "del ex1-27" "eOPA1 identifier (obsolete):OA_00282; Nucleotide change: Large deletion of exons 1-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5\' deletion includes D3S3669 but not D3S1601" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000171739" "0" "97" "3" "193357874" "193357875" "" "0" "00091" "OPA1_000269" "g.193357874_193357875insGCAins193350128_193357874" "" "{PMID:Fuhrmann 2009:19181907}" "" "844-?_1149+?dup" "eOPA1 identifier (obsolete):OA_00283; Nucleotide change: Duplication of exons 7-9 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 7 to exon 9 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 41: expected EOF). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171740" "0" "97" "3" "193311166" "193732134" "" "0" "00091" "OPA1_000270" "g.(191677608_193311166)_(193732134_195310989)del" "" "{PMID:Fuhrmann 2009:19181907}" "" "del ex1-29, c.1-?_3048+?del" "eOPA1 identifier (obsolete):OA_00284; Nucleotide change: Complete deletion (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 1 to exon 28 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature; 5\' deletion includes D3S3669 but not D3S1601, 3\' includes D3S2748 but not D3S1305" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171741" "0" "97" "3" "193355579" "193358765" "delins" "0" "00091" "OPA1_000271" "g.193355579_193358765delinsGTGATTGATGCA" "" "{PMID:Fuhrmann 2009:19181907}" "" "del ex9" "eOPA1 identifier (obsolete):OA_00285; Nucleotide change: Deletion of exon 9 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "yes" "" "0" "" "" "g.193637790_193640976delinsGTGATTGATGCA" "" "pathogenic" ""
"0000171742" "0" "77" "3" "193355006" "193355006" "subst" "0" "01536" "OPA1_000272" "g.193355006C>T" "" "Mavrogiannis LA, Bitner-Glindzicz M, Charlton RS (unpublished)" "" "" "eOPA1 identifier (obsolete):OA_00286; Nucleotide change: C to T at 806 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Apparently de novo chang" "Germline" "" "" "0" "" "" "g.193637217C>T" "" "likely pathogenic" ""
"0000171743" "0" "77" "3" "193332511" "193385070" "" "0" "01536" "OPA1_000273" "g.(193311199_193332511)_(193385070_193409851)dup" "" "Mavrogiannis LA, Prescott K, Charlton RS (unpublished)" "" "33-?_2983+?dup" "eOPA1 identifier (obsolete):OA_00287; Nucleotide change: Large duplication of exons 2-27 (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 2 to exon 27 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Detected by MLP" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000171744" "0" "55" "3" "193384102" "193384104" "del" "0" "01536" "OPA1_000274" "g.193384102_193384104del" "" "Mavrogiannis LA, Cole R, Black GC, Charlton RS (unpublished)" "" "" "eOPA1 identifier (obsolete):OA_00288; Nucleotide change: Deletion of 3 nucleotides at 2631_2633 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193666313_193666315del" "" "VUS" ""
"0000171745" "0" "97" "3" "193384112" "193384112" "dup" "0" "01536" "OPA1_000275" "g.193384112dup" "" "Berry IR, Black GC, Charlton RS (unpublished)" "" "" "eOPA1 identifier (obsolete):OA_00289; Nucleotide change: Duplication of T at 2641 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193666323dup" "" "pathogenic" ""
"0000171746" "0" "55" "3" "193361863" "193361863" "subst" "0" "01536" "OPA1_000276" "g.193361863T>C" "" "Mavrogiannis LA, Joss S, Charlton RS (unpublished)" "" "" "eOPA1 identifier (obsolete):OA_00290; Nucleotide change: T to C at 1412 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193644074T>C" "" "VUS" ""
"0000171747" "0" "97" "3" "193355003" "193355003" "subst" "0" "02106" "OPA1_000277" "g.193355003A>G" "" "Pickart A, Bick D (unpublished)" "" "" "eOPA1 identifier (obsolete):OA_00291; Nucleotide change: A to G at 803 (reference: OPA1 transcript variant 1, NM_015560.1); Note: Mutation de novo in proband, no family history of optic atrophy outside of proband" "Germline" "" "" "0" "" "" "g.193637214A>G" "" "pathogenic" ""
"0000171748" "0" "75" "3" "193355072" "193355072" "subst" "0" "01536" "OPA1_000278" "g.193355072T>A" "" "Mavrogiannis LA, Clayton-Smith J, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193637283T>A" "" "likely pathogenic" ""
"0000171749" "21" "75" "3" "193334966" "193355071" "" "0" "01536" "OPA1_000279" "g.(193333560_193334966)_(193355071_193355740)dup" "" "Mavrogiannis LA, Robertson L, Charlton RS (unpublished)" "" "449-?_1035+?dup" "Large duplication of exons 4-8 (reference: OPA1 transcript variant 1, NM_015560.1) detected by MLPA" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000171750" "0" "55" "3" "193361167" "193361167" "subst" "0.000634322" "02108" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "VUS" ""
"0000171751" "0" "97" "3" "193335986" "193335986" "subst" "0" "02108" "OPA1_000283" "g.193335986G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618197G>A" "" "pathogenic" ""
"0000171752" "11" "55" "3" "193361167" "193361167" "subst" "0.000634322" "02108" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "VUS" ""
"0000171753" "1" "55" "3" "193361167" "193361167" "subst" "0.000634322" "02108" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "VUS" ""
"0000171754" "0" "97" "3" "193335986" "193335986" "subst" "0" "02108" "OPA1_000283" "g.193335986G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618197G>A" "" "pathogenic" ""
"0000171755" "0" "97" "3" "193335986" "193335986" "subst" "0" "02108" "OPA1_000283" "g.193335986G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618197G>A" "" "pathogenic" ""
"0000171756" "0" "97" "3" "193335986" "193335986" "subst" "0" "02108" "OPA1_000283" "g.193335986G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618197G>A" "" "pathogenic" ""
"0000171757" "0" "97" "3" "193335990" "193335990" "subst" "0" "02108" "OPA1_000282" "g.193335990G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618201G>A" "" "pathogenic" ""
"0000171758" "10" "97" "3" "193409851" "193409854" "del" "0" "02109" "OPA1_000287" "g.193409851_193409854del" "" "{PMID:Ranieri 2012:22197506}" "" "" "" "Germline" "" "" "0" "" "" "g.193692062_193692065del" "" "pathogenic" ""
"0000171759" "20" "97" "3" "193360552" "193360552" "subst" "0" "02109" "OPA1_000288" "g.193360552A>G" "" "{PMID:Ranieri 2012:22197506}" "" "" "" "Germline" "" "" "0" "" "" "g.193642763A>G" "" "pathogenic" ""
"0000171760" "21" "97" "3" "193361796" "193361796" "subst" "0" "02109" "OPA1_000289" "g.193361796A>C" "" "{PMID:Liskova 2013:23387428}" "" "" "" "Germline" "" "" "0" "" "" "g.193644007A>C" "" "pathogenic" ""
"0000171761" "20" "95" "3" "193361796" "193361796" "subst" "0" "02109" "OPA1_000289" "g.193361796A>C" "" "{PMID:Liskova 2013:23387428}" "" "" "" "Germline" "" "" "0" "" "" "g.193644007A>C" "" "pathogenic" ""
"0000171762" "11" "79" "3" "193384959" "193384962" "del" "0" "02109" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "likely pathogenic" ""
"0000171763" "11" "79" "3" "193384959" "193384962" "del" "0" "02109" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "likely pathogenic" ""
"0000171764" "0" "79" "3" "193384959" "193384962" "del" "0" "02109" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "likely pathogenic" ""
"0000171765" "0" "35" "3" "193361167" "193361167" "subst" "0.000634322" "02109" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "likely benign" ""
"0000171766" "0" "77" "3" "193333467" "193333468" "del" "0" "02109" "OPA1_000290" "g.193333467_193333468del" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193615678_193615679del" "" "likely pathogenic" ""
"0000171767" "0" "75" "3" "193355855" "193355855" "subst" "0" "02109" "OPA1_000291" "g.193355855G>T" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193638066G>T" "" "likely pathogenic" ""
"0000171768" "0" "77" "3" "193360839" "193360839" "subst" "0" "02109" "OPA1_000292" "g.193360839G>T" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193643050G>T" "" "likely pathogenic" ""
"0000171769" "0" "75" "3" "193361764" "193361764" "subst" "0" "02109" "OPA1_000293" "g.193361764A>C" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>C" "" "likely pathogenic" ""
"0000171770" "0" "75" "3" "193361827" "193361827" "subst" "0" "02109" "OPA1_000294" "g.193361827G>A" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193644038G>A" "" "likely pathogenic" ""
"0000171771" "0" "77" "3" "193363544" "193363545" "del" "0" "02109" "OPA1_000295" "g.193363544_193363545del" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193645755_193645756del" "" "likely pathogenic" ""
"0000171772" "0" "77" "3" "193364929" "193364930" "ins" "0" "02109" "OPA1_000296" "g.193364929_193364930insA" "" "{PMID:Almind 2012:22857269}" "" "insertion" "" "Germline" "" "" "0" "" "" "g.193647140_193647141insA" "" "likely pathogenic" ""
"0000171773" "0" "77" "3" "193364951" "193364951" "subst" "0" "02109" "OPA1_000297" "g.193364951C>T" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193647162C>T" "" "likely pathogenic" ""
"0000171774" "0" "77" "3" "193372786" "193372788" "delins" "0" "02109" "OPA1_000298" "g.193372786_193372788delinsGG" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193654997_193654999delinsGG" "" "likely pathogenic" ""
"0000171775" "0" "77" "3" "193372817" "193372817" "subst" "0" "02109" "OPA1_000299" "g.193372817G>C" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193655028G>C" "" "likely pathogenic" ""
"0000171776" "0" "75" "3" "193380755" "193380756" "delins" "0" "02109" "OPA1_000300" "g.193380755_193380756delinsGTAAC" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193662966_193662967delinsGTAAC" "" "likely pathogenic" ""
"0000171777" "0" "75" "3" "193380751" "193380751" "subst" "0" "02109" "OPA1_000301" "g.193380751G>C" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193662962G>C" "" "likely pathogenic" ""
"0000171778" "0" "55" "3" "193382786" "193382786" "subst" "0" "02109" "OPA1_000102" "g.193382786G>C" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00112; Nucleotide change: G to C at 2613+1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193664997G>C" "" "VUS" ""
"0000171779" "0" "75" "3" "193384179" "193384179" "subst" "0" "02109" "OPA1_000302" "g.193384179G>C" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193666390G>C" "" "likely pathogenic" ""
"0000171780" "0" "75" "3" "193384979" "193384981" "del" "0" "02109" "OPA1_000303" "g.193384979_193384981del" "" "{PMID:Almind 2012:22857269}" "" "" "" "Germline" "" "" "0" "" "" "g.193667190_193667192del" "" "likely pathogenic" ""
"0000171781" "21" "97" "3" "193361219" "193361219" "subst" "0" "02109" "OPA1_000304" "g.193361219C>G" "" "{PMID:Zhang 2012:22382025}, {PMID:Zhang 2014:25374051}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193643430C>G" "" "pathogenic" ""
"0000171782" "0" "75" "3" "193372740" "193372740" "subst" "0" "02109" "OPA1_000199" "g.193372740C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00208; Nucleotide change: C to T at 1937 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654951C>T" "" "likely pathogenic" ""
"0000171783" "0" "97" "3" "193409856" "193409856" "dup" "0" "02109" "OPA1_000305" "g.193409856dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193692067dup" "" "pathogenic" ""
"0000171784" "0" "97" "3" "193355740" "193355740" "subst" "0" "02109" "OPA1_000239" "g.193355740G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00249; Nucleotide change: G to A at 871-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637951G>A" "" "pathogenic" ""
"0000171785" "0" "95" "3" "193355762" "193355762" "subst" "0" "02109" "OPA1_000306" "g.193355762A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193637973A>G" "" "pathogenic" ""
"0000171786" "0" "97" "3" "193355069" "193355069" "subst" "0" "02109" "OPA1_000020" "g.193355069G>A" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic" ""
"0000171787" "0" "55" "3" "193353215" "193353215" "subst" "0" "02109" "OPA1_000307" "g.193353215T>A" "" "{PMID:Galvez-Ruiz 2013:24051421}" "" "" "" "Germline" "" "" "0" "" "" "g.193635426T>A" "" "VUS" ""
"0000171788" "0" "55" "3" "193355804" "193355804" "subst" "0" "02109" "OPA1_000164" "g.193355804C>T" "" "{PMID:Cardaioli 2006:16331355}" "" "" "eOPA1 identifier (obsolete):OA_00173; Nucleotide change: C to T at 934 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193638015C>T" "" "VUS" ""
"0000171789" "0" "55" "3" "193354982" "193354982" "subst" "0" "02109" "OPA1_000308" "g.193354982A>T" "" "{PMID:Galvez-Ruiz 2013:24051421}" "" "" "" "Germline" "" "" "0" "" "" "g.193637193A>T" "" "VUS" ""
"0000171790" "0" "57" "3" "193361764" "193361764" "subst" "0" "02109" "OPA1_000097" "g.193361764A>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00107; Nucleotide change: A to T at 1313 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "VUS" ""
"0000171791" "0" "97" "3" "193365921" "193365921" "subst" "0.0000121928" "02109" "OPA1_000119" "g.193365921C>T" "" "{PMID:Puomila 2005:15948788}" "" "" "eOPA1 identifier (obsolete):OA_00128; Nucleotide change: C to T at 1768 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648132C>T" "" "pathogenic" ""
"0000171792" "0" "97" "3" "193332592" "193332609" "del" "0" "02109" "OPA1_000082" "g.193332592_193332609del" "" "{PMID:Thiselton 2002:12036970}" "" "112_139del18" "eOPA1 identifier (obsolete):OA_00091; Nucleotide change: Deletion of 18 nucleotides at 112_129 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "pathogenic" ""
"0000171793" "0" "99" "3" "193384959" "193384962" "del" "0" "02109" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000171794" "0" "97" "3" "193372694" "193372695" "ins" "0" "02109" "OPA1_000198" "g.193372694_193372695insN[41]" "" "{PMID:Ferre 2009:19319978}" "" "c.1891_1892ins41 splicing defect" "eOPA1 identifier (obsolete):OA_00207; Nucleotide change: Insertion of 41 nucleotides at 1891_1892 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171795" "0" "97" "3" "193372694" "193372695" "ins" "0" "02109" "OPA1_000198" "g.193372694_193372695insN[41]" "" "{PMID:Ferre 2009:19319978}" "" "c.1891_1892ins41 splicing defect" "eOPA1 identifier (obsolete):OA_00207; Nucleotide change: Insertion of 41 nucleotides at 1891_1892 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171796" "0" "95" "3" "193380725" "193380725" "subst" "0" "02109" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000171797" "0" "95" "3" "193376706" "193376706" "subst" "0" "02109" "OPA1_000204" "g.193376706C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00213; Nucleotide change: C to T at 2197 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000171798" "0" "95" "3" "193380725" "193380725" "subst" "0" "02109" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000171799" "0" "55" "3" "193380725" "193380725" "subst" "0" "02109" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "VUS" ""
"0000171800" "0" "97" "3" "193360553" "193360553" "subst" "0" "02109" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000171801" "0" "95" "3" "193380725" "193380725" "subst" "0" "02109" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000171802" "0" "55" "3" "193380725" "193380725" "subst" "0" "02109" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "VUS" ""
"0000171803" "0" "95" "3" "193361796" "193361796" "subst" "0" "02109" "OPA1_000289" "g.193361796A>C" "" "{PMID:Liskova 2013:23387428}" "" "" "" "Germline" "" "" "0" "" "" "g.193644007A>C" "" "pathogenic" ""
"0000171804" "0" "95" "3" "193380725" "193380725" "subst" "0" "02109" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000171805" "0" "97" "3" "193361763" "193361763" "subst" "0" "02109" "OPA1_000180" "g.193361763G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00189; Nucleotide change: G to A at 1313-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643974G>A" "" "pathogenic" ""
"0000171806" "0" "97" "3" "193361763" "193361763" "subst" "0" "02109" "OPA1_000180" "g.193361763G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00189; Nucleotide change: G to A at 1313-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193643974G>A" "" "pathogenic" ""
"0000171807" "0" "97" "3" "193355855" "193355855" "subst" "0" "02109" "OPA1_000310" "g.193355855G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193638066G>A" "" "pathogenic" ""
"0000171808" "0" "97" "3" "193361219" "193361219" "subst" "0" "00091" "OPA1_000304" "g.193361219C>G" "" "{PMID:Schimpf 2008: 17722006}, {PMID:Zhang 2012:22382025}" "" "" "" "Germline" "" "" "0" "" "" "g.193643430C>G" "" "pathogenic" ""
"0000171809" "0" "75" "3" "193363341" "193363341" "subst" "0" "02109" "OPA1_000181" "g.193363341G>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00190; Nucleotide change: G to C at 1444-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Loss of 24 aa (splicing defect)" "Germline" "" "" "0" "" "" "g.193645552G>C" "" "likely pathogenic" ""
"0000171810" "0" "75" "3" "193349405" "193349405" "subst" "0" "02109" "OPA1_000088" "g.193349405C>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00097; Nucleotide change: C to A at 629 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193631616C>A" "" "likely pathogenic" ""
"0000171811" "0" "95" "3" "193361841" "193361843" "del" "0" "02109" "OPA1_000312" "g.193361841_193361843del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193644052_193644054del" "" "pathogenic" ""
"0000171812" "0" "95" "3" "193361841" "193361843" "del" "0" "02109" "OPA1_000312" "g.193361841_193361843del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193644052_193644054del" "" "pathogenic" ""
"0000171813" "0" "95" "3" "193361841" "193361843" "del" "0" "02109" "OPA1_000312" "g.193361841_193361843del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193644052_193644054del" "" "pathogenic" ""
"0000171814" "0" "95" "3" "193361841" "193361843" "del" "0" "02109" "OPA1_000312" "g.193361841_193361843del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193644052_193644054del" "" "pathogenic" ""
"0000171815" "0" "95" "3" "193382741" "193382741" "subst" "0" "02109" "OPA1_000230" "g.193382741C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00239; Nucleotide change: C to T at 2569 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic" ""
"0000171816" "0" "95" "3" "193382741" "193382741" "subst" "0" "02109" "OPA1_000230" "g.193382741C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00239; Nucleotide change: C to T at 2569 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic" ""
"0000171817" "0" "95" "3" "193361233" "193361233" "del" "0" "02109" "OPA1_000313" "g.193361233del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193643444del" "" "pathogenic" ""
"0000171818" "0" "55" "3" "193360585" "193360585" "subst" "0" "01536" "OPA1_000314" "g.193360585C>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193642796C>A" "" "VUS" ""
"0000171819" "0" "55" "3" "193361310" "193361313" "del" "0" "01536" "OPA1_000315" "g.193361310_193361313del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193643521_193643524del" "" "VUS" ""
"0000171820" "0" "97" "3" "193372793" "193372793" "subst" "0" "01536" "OPA1_000316" "g.193372793C>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193655004C>T" "" "pathogenic" ""
"0000171821" "0" "95" "3" "193385069" "193385070" "del" "0" "01536" "OPA1_000317" "g.193385069_193385070del" "" "Robinson RL, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193667280_193667281del" "" "pathogenic" ""
"0000171822" "1" "35" "3" "193361198" "193361198" "subst" "0.00644768" "01536" "OPA1_000319" "g.193361198A>C" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193643409A>C" "" "likely benign" ""
"0000171823" "0" "97" "3" "193349425" "193349425" "subst" "0" "01536" "OPA1_000320" "g.193349425C>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193631636C>T" "" "pathogenic" ""
"0000171824" "0" "35" "3" "193332549" "193332549" "subst" "0.000221598" "01536" "OPA1_000321" "g.193332549A>G" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193614760A>G" "" "likely benign" ""
"0000171825" "0" "57" "3" "193366664" "193366667" "del" "0" "01536" "OPA1_000240" "g.193366664_193366667del" "" "{PMID:Ferre 2009:19319978}, Mavrogiannis LA, Charlton RS (unpublished), {PMID:Bolognini 2017:28245802}" "" "NM_015560.1:c.1847+1_1847+4del" "eOPA1 identifier (obsolete):OA_00259; Update: c.1847+4_1847+7del according to 3\' rule; Consequence: Skipping of exon 21 and 22 (Bolognini , 2017)" "Germline" "" "" "0" "" "" "g.193648875_193648878del" "" "VUS" ""
"0000171826" "0" "95" "3" "193333468" "193333468" "del" "0" "01536" "OPA1_000323" "g.193333468del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193615679del" "" "pathogenic" ""
"0000171827" "0" "55" "3" "193377258" "193377258" "subst" "0.00000458581" "01536" "OPA1_000324" "g.193377258T>G" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193659469T>G" "" "VUS" ""
"0000171828" "0" "55" "3" "193354981" "193354981" "subst" "0" "01536" "OPA1_000325" "g.193354981C>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193637192C>A" "" "VUS" ""
"0000171829" "0" "95" "3" "193374957" "193374958" "del" "0" "01536" "OPA1_000326" "g.193374957_193374958del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193657168_193657169del" "" "pathogenic" ""
"0000171830" "0" "97" "3" "193332746" "193332746" "subst" "0" "01536" "OPA1_000327" "g.193332746G>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193614957G>A" "" "pathogenic" ""
"0000171831" "0" "75" "3" "193311169" "193311169" "subst" "0" "01536" "OPA1_000328" "g.193311169G>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "Mutation in start codon of gene OPA1" "Germline" "" "" "0" "" "" "g.193593380G>T" "" "likely pathogenic" ""
"0000171832" "0" "35" "3" "193360835" "193360835" "subst" "0.000464169" "01536" "OPA1_000329" "g.193360835T>G" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193643046T>G" "" "likely benign" ""
"0000171833" "0" "75" "3" "193336727" "193336727" "subst" "0" "01536" "OPA1_000330" "g.193336727T>G" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193618938T>G" "" "likely pathogenic" ""
"0000171834" "0" "97" "3" "193377289" "193377289" "dup" "0" "01536" "OPA1_000331" "g.193377289dup" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193659500dup" "" "pathogenic" ""
"0000171835" "0" "75" "3" "193355763" "193355763" "subst" "0" "01536" "OPA1_000332" "g.193355763G>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193637974G>A" "" "likely pathogenic" ""
"0000171836" "0" "55" "3" "193311285" "193311285" "del" "0" "01536" "OPA1_000333" "g.193311285del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193593496del" "" "VUS" ""
"0000171837" "0" "55" "3" "193384976" "193384977" "ins" "0" "01536" "OPA1_000334" "g.193384976_193384977insTTA" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193667187_193667188insTTA" "" "VUS" ""
"0000171838" "0" "95" "3" "193360636" "193360636" "subst" "0" "01536" "OPA1_000335" "g.193360636T>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193642847T>A" "" "pathogenic" ""
"0000171839" "1" "35" "3" "193333492" "193333492" "subst" "0.0000324979" "01536" "OPA1_000336" "g.193333492G>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193615703G>A" "" "likely benign" ""
"0000171840" "0" "75" "3" "193363400" "193363400" "subst" "0" "01536" "OPA1_000338" "g.193363400T>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193645611T>A" "" "likely pathogenic" ""
"0000171841" "0" "97" "3" "193384970" "193384970" "subst" "0" "01536" "OPA1_000339" "g.193384970G>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193667181G>T" "" "pathogenic" ""
"0000171842" "0" "55" "3" "193361330" "193361330" "subst" "0.0000122063" "01536" "OPA1_000340" "g.193361330G>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193643541G>A" "" "VUS" ""
"0000171843" "1" "55" "3" "193360588" "193360588" "subst" "0" "01536" "OPA1_000342" "g.193360588T>C" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193642799T>C" "" "VUS" ""
"0000171844" "0" "97" "3" "193380610" "193380610" "subst" "0" "01536" "OPA1_000343" "g.193380610G>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193662821G>T" "" "pathogenic" ""
"0000171845" "0" "97" "3" "193355818" "193355818" "del" "0.00000406194" "01536" "OPA1_000344" "g.193355818del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193638029del" "" "pathogenic" ""
"0000171846" "0" "97" "3" "193384084" "193384084" "subst" "0" "01536" "OPA1_000345" "g.193384084G>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193666295G>T" "" "pathogenic" ""
"0000171847" "0" "97" "3" "193409851" "193412409" "" "0" "01536" "OPA1_000346" "g.(193385070_193409851)_(193412409_?)del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "2984-?_*20_?del" "Partially characterised deletion, involving MLPA probes for exons 30 & 31 (*20 because this is the standard sequence analysis limit)" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000171848" "0" "33" "3" "193363501" "193363501" "del" "0" "01536" "OPA1_000347" "g.193363501del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193645712del" "" "likely benign" ""
"0000171849" "1" "77" "3" "193332592" "193332609" "del" "0" "01536" "OPA1_000082" "g.193332592_193332609del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "likely pathogenic" ""
"0000171850" "0" "77" "3" "193332511" "193333560" "" "0" "01536" "OPA1_000349" "g.(193311199_193332511)_(193333560_193334966)del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "33-?_448+?del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000171851" "1" "97" "3" "193363563" "193363569" "del" "0" "01536" "OPA1_000350" "g.193363563_193363569del" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193645774_193645780del" "" "pathogenic" ""
"0000171852" "0" "97" "3" "193409869" "193409869" "subst" "0" "01536" "OPA1_000352" "g.193409869C>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193692080C>T" "" "pathogenic" ""
"0000171853" "0" "55" "3" "193361238" "193361238" "subst" "0" "01536" "OPA1_000353" "g.193361238G>A" "" "Simmonds JH, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193643449G>A" "" "VUS" ""
"0000171854" "0" "77" "3" "193361235" "193361235" "dup" "0" "01536" "OPA1_000354" "g.193361235dup" "" "Simmonds JH, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193643446dup" "" "likely pathogenic" ""
"0000171855" "0" "77" "3" "193372650" "193377351" "" "0" "01536" "OPA1_000355" "g.(193366661_193372650)_(193377351_193380610)dup" "" "Simmonds JH, Charlton RS (unpublished)" "" "2013-?_2520+?dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000171856" "0" "97" "3" "193332592" "193332609" "del" "0" "02111" "OPA1_000082" "g.193332592_193332609del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "pathogenic" ""
"0000171857" "0" "75" "3" "193360578" "193360578" "subst" "0" "02111" "OPA1_000357" "g.193360578C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193642789C>G" "" "likely pathogenic" ""
"0000171858" "0" "55" "3" "193336726" "193336726" "subst" "0" "02112" "OPA1_000358" "g.193336726G>T" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193618937G>T" "" "VUS" ""
"0000171859" "0" "95" "3" "193353306" "193353306" "subst" "0" "02112" "OPA1_000359" "g.193353306C>T" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193635517C>T" "" "pathogenic" ""
"0000171860" "0" "95" "3" "193354983" "193354983" "subst" "0" "02112" "OPA1_000360" "g.193354983G>C" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193637194G>C" "" "pathogenic" ""
"0000171861" "0" "95" "3" "193354982" "193354982" "subst" "0" "02112" "OPA1_000361" "g.193354982A>G" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193637193A>G" "" "pathogenic" ""
"0000171862" "1" "95" "3" "193364904" "193364904" "subst" "0" "02112" "OPA1_000362" "g.193364904C>A" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193647115C>A" "" "pathogenic" ""
"0000171863" "1" "97" "3" "193360843" "193360843" "subst" "0" "02112" "OPA1_000172" "g.193360843G>C" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193643054G>C" "" "pathogenic" ""
"0000171864" "0" "97" "3" "193366637" "193366637" "del" "0" "02112" "OPA1_000366" "g.193366637del" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193648848del" "" "pathogenic" ""
"0000171865" "1" "99" "3" "193384959" "193384962" "del" "0" "02112" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000171866" "0" "97" "3" "193384164" "193384171" "dup" "0" "02112" "OPA1_000369" "g.193384164_193384171dup" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193666375_193666382dup" "" "pathogenic" ""
"0000171867" "0" "97" "3" "193385051" "193385051" "dup" "0" "02112" "OPA1_000370" "g.193385051dup" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193667262dup" "" "pathogenic" ""
"0000171868" "0" "77" "3" "193366664" "193366667" "del" "0" "00091" "OPA1_000240" "g.193366664_193366667del" "" "{PMID:Ferre 2009:19319978}, Mavrogiannis LA, Charlton RS (unpublished), {PMID:Bolognini 2017:28245802}" "" "NM_015560.1:c.1847+1_1847+4del" "eOPA1 identifier (obsolete):OA_00259; Update: c.1847+4_1847+7del according to 3\' rule; Consequence: Skipping of exon 21 and 22 (Bolognini , 2017)" "Germline" "" "" "0" "" "" "g.193648875_193648878del" "" "likely pathogenic" ""
"0000171869" "0" "97" "3" "193385075" "193385075" "subst" "0" "00091" "OPA1_000080" "g.193385075T>C" "" "{PMID:Thiselton 2002:12036970}" "" "" "eOPA1 identifier (obsolete):OA_00089; Nucleotide change: T to C at 2818+6 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193667286T>C" "" "pathogenic" ""
"0000171870" "0" "97" "3" "193355008" "193355008" "subst" "0" "00091" "OPA1_000089" "g.193355008G>A" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00098; Nucleotide change: G to A at 808 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637219G>A" "" "pathogenic" ""
"0000171871" "0" "97" "3" "193364906" "193364906" "subst" "0" "00091" "OPA1_000259" "g.193364906G>A" "" "{PMID:Yu-Wai-Man Brain, 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00272; Nucleotide change: Deletion of AA at 635_636 and G to A at 1642 with alleles unknown (reference: OPA1 transcript variant 1, NM_015560.1); Location: exon 6 to exon 17 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647117G>A" "" "pathogenic" ""
"0000171872" "0" "97" "3" "193335990" "193335990" "subst" "0" "02108" "OPA1_000282" "g.193335990G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618201G>A" "" "pathogenic" ""
"0000171873" "0" "33" "3" "193332800" "193332800" "subst" "0.00617527" "01536" "OPA1_000041" "g.193332800G>A" "" "" "" "" "eOPA1 identifier (obsolete):OA_00044; Nucleotide change: G to A at 321 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193615011G>A" "" "likely benign" ""
"0000171874" "0" "35" "3" "193332522" "193332522" "subst" "0.00648103" "01536" "OPA1_000318" "g.193332522C>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193614733C>A" "" "likely benign" ""
"0000171875" "0" "97" "3" "193349410" "193349410" "subst" "0" "01536" "OPA1_000337" "g.193349410A>T" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193631621A>T" "" "pathogenic" ""
"0000171876" "0" "33" "3" "193335052" "193335052" "subst" "0.0000122052" "01536" "OPA1_000341" "g.193335052A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193617263A>G" "" "likely benign" ""
"0000171877" "0" "75" "3" "193311169" "193311169" "subst" "0" "01536" "OPA1_000348" "g.193311169G>A" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "Mutation in start codon of gene OPA1" "Germline" "" "" "0" "" "" "g.193593380G>A" "" "likely pathogenic" ""
"0000171878" "0" "55" "3" "193377305" "193377305" "subst" "0" "01536" "OPA1_000351" "g.193377305C>G" "" "Mavrogiannis LA, Charlton RS (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.193659516C>G" "" "VUS" ""
"0000171879" "0" "97" "3" "193355015" "193355015" "subst" "0" "02112" "OPA1_000003" "g.193355015T>C" "" "{PMID:Baris 2003:14961560}, {PMID:Almind 2012:22857269}" "" "" "eOPA1 identifier (obsolete):OA_00003; Nucleotide change: T to C at 815 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193637226T>C" "" "pathogenic" ""
"0000171880" "0" "75" "3" "193376699" "193376699" "subst" "0" "02112" "OPA1_000365" "g.193376699G>C" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193658910G>C" "" "likely pathogenic" ""
"0000171881" "0" "97" "3" "193372740" "193372740" "del" "0" "02112" "OPA1_000367" "g.193372740del" "" "{PMID:Liskova 2016:27860320}" "" "" "" "Germline" "" "" "0" "" "" "g.193654951del" "" "pathogenic" ""
"0000171882" "2" "97" "3" "193355054" "193355054" "subst" "0" "00091" "OPA1_000255" "g.193355054A>G" "" "{PMID:Yu-Wai-Man Brain, 2010:20157015}" "" "" "eOPA1 identifier (obsolete):OA_00268; Location: exon 5b to exon 8 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637265A>G" "" "pathogenic" ""
"0000171883" "21" "97" "3" "193335990" "193335990" "subst" "0" "02108" "OPA1_000282" "g.193335990G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618201G>A" "" "pathogenic" ""
"0000171884" "21" "97" "3" "193335990" "193335990" "subst" "0" "02108" "OPA1_000282" "g.193335990G>A" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193618201G>A" "" "pathogenic" ""
"0000171885" "21" "35" "3" "193361167" "193361167" "subst" "0.000634322" "02109" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "likely benign" ""
"0000171886" "21" "35" "3" "193361167" "193361167" "subst" "0.000634322" "02109" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "likely benign" ""
"0000244200" "3" "90" "3" "193355068" "193355068" "subst" "0.00000815468" "00006" "OPA1_000091" "g.193355068C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_130832: c.C814T; p.R272W" "" "Germline" "" "" "0" "" "" "g.193637279C>T" "" "pathogenic" ""
"0000246108" "0" "10" "3" "193360769" "193360769" "subst" "0.00266927" "02330" "OPA1_000256" "g.193360769A>G" "" "" "" "OPA1(NM_130837.2):c.1236A>G (p.A412=), OPA1(NM_130837.3):c.1236A>G (p.A412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193642980A>G" "" "benign" ""
"0000246125" "0" "10" "3" "193382716" "193382716" "subst" "0.0000204" "02330" "OPA1_000413" "g.193382716A>G" "" "" "" "OPA1(NM_130837.3):c.2709A>G (p.T903=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193664927A>G" "" "benign" ""
"0000246156" "0" "10" "3" "193409848" "193409848" "subst" "0.000481868" "02330" "OPA1_000416" "g.193409848A>G" "" "" "" "OPA1(NM_015560.2):c.2819-4A>G (p.?), OPA1(NM_130837.2):c.2984-4A>G, OPA1(NM_130837.3):c.2984-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193692059A>G" "" "benign" ""
"0000251864" "0" "30" "3" "193332549" "193332549" "subst" "0.000221598" "02326" "OPA1_000321" "g.193332549A>G" "" "" "" "OPA1(NM_130837.2):c.70A>G (p.I24V), OPA1(NM_130837.3):c.70A>G (p.I24V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193614760A>G" "" "likely benign" ""
"0000252074" "0" "30" "3" "193364849" "193364849" "subst" "0" "02326" "OPA1_000428" "g.193364849A>T" "" "" "" "OPA1(NM_130837.2):c.1755-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193647060A>T" "" "likely benign" ""
"0000254131" "0" "30" "3" "193360769" "193360769" "subst" "0.00266927" "01943" "OPA1_000256" "g.193360769A>G" "" "" "" "OPA1(NM_130837.2):c.1236A>G (p.A412=), OPA1(NM_130837.3):c.1236A>G (p.A412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193642980A>G" "" "likely benign" ""
"0000254960" "0" "30" "3" "193384966" "193384966" "subst" "0.000637765" "01943" "OPA1_000070" "g.193384966A>G" "" "" "" "OPA1(NM_130837.2):c.2880A>G (p.R960=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193667177A>G" "" "likely benign" ""
"0000256106" "0" "50" "3" "193366614" "193366614" "subst" "0.0000121989" "01943" "OPA1_000429" "g.193366614A>G" "" "" "" "OPA1(NM_130837.2):c.1966A>G (p.I656V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193648825A>G" "" "VUS" ""
"0000256323" "0" "50" "3" "193361380" "193361380" "subst" "0.0000651036" "01943" "OPA1_000405" "g.193361380A>T" "" "" "" "OPA1(NM_130837.2):c.1441A>T (p.M481L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193643591A>T" "" "VUS" ""
"0000256470" "0" "50" "3" "193382701" "193382701" "subst" "0" "01943" "OPA1_000412" "g.193382701A>T" "" "" "" "OPA1(NM_130837.2):c.2694A>T (p.R898S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193664912A>T" "" "VUS" ""
"0000256506" "0" "50" "3" "193361787" "193361787" "subst" "0" "01943" "OPA1_000406" "g.193361787A>T" "" "" "" "OPA1(NM_130837.2):c.1501A>T (p.S501C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193643998A>T" "" "VUS" ""
"0000256699" "0" "50" "3" "193360643" "193360643" "subst" "0" "01943" "OPA1_000404" "g.193360643A>G" "" "" "" "OPA1(NM_130837.2):c.1230+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193642854A>G" "" "VUS" ""
"0000293368" "0" "10" "3" "193355052" "193355052" "subst" "0.0000203784" "02330" "OPA1_000401" "g.193355052G>A" "" "" "" "OPA1(NM_130837.3):c.1017G>A (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193637263G>A" "" "benign" ""
"0000293369" "0" "10" "3" "193375003" "193375003" "subst" "0" "02330" "OPA1_000410" "g.193375003C>G" "" "" "" "OPA1(NM_130837.3):c.2313C>G (p.D771E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193657214C>G" "" "benign" ""
"0000293370" "0" "10" "3" "193333531" "193333531" "subst" "0.00839548" "02330" "OPA1_000042" "g.193333531G>T" "" "" "" "OPA1(NM_130837.2):c.420G>T (p.V140=), OPA1(NM_130837.3):c.420G>T (p.V140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193615742G>T" "" "benign" ""
"0000293371" "0" "50" "3" "193335608" "193335608" "subst" "0.0000243819" "02330" "OPA1_000398" "g.193335608G>A" "" "" "" "OPA1(NM_130837.2):c.592G>A (p.D198N), OPA1(NM_130837.3):c.592G>A (p.D198N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193617819G>A" "" "VUS" ""
"0000296676" "0" "30" "3" "193355090" "193355090" "subst" "0.0000244832" "02325" "OPA1_000403" "g.193355090T>C" "" "" "" "OPA1(NM_130837.3):c.1035+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193637301T>C" "" "likely benign" ""
"0000296677" "0" "13" "3" "193355074" "193355074" "subst" "0.86997" "02325" "OPA1_000402" "g.193355074T>C" "" "" "" "OPA1(NM_130837.3):c.1035+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193637285T>C" "" "benign" ""
"0000296678" "0" "30" "3" "193372747" "193372747" "subst" "0.0000365913" "02325" "OPA1_000408" "g.193372747T>C" "" "" "" "OPA1(NM_130837.3):c.2109T>C (p.T703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193654958T>C" "" "likely benign" ""
"0000296679" "0" "50" "3" "193374903" "193374903" "subst" "0.0000325412" "02325" "OPA1_000409" "g.193374903G>A" "" "" "" "OPA1(NM_130837.2):c.2213G>A (p.R738H), OPA1(NM_130837.3):c.2213G>A (p.R738H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193657114G>A" "" "VUS" ""
"0000300522" "0" "10" "3" "193332522" "193332522" "subst" "0.00648103" "02326" "OPA1_000318" "g.193332522C>A" "" "" "" "OPA1(NM_130837.2):c.43C>A (p.Q15K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193614733C>A" "" "benign" ""
"0000300523" "0" "10" "3" "193336676" "193336676" "subst" "0.0227145" "02326" "OPA1_000048" "g.193336676C>T" "" "" "" "OPA1(NM_130837.2):c.629C>T (p.A210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193618887C>T" "" "benign" ""
"0000304776" "0" "30" "3" "193332592" "193332609" "del" "0" "01943" "OPA1_000397" "g.193332592_193332609del" "" "" "" "OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del), OPA1(NM_130837.3):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193614803_193614820del" "" "likely benign" ""
"0000304777" "0" "30" "3" "193361885" "193361885" "subst" "0" "01943" "OPA1_000407" "g.193361885T>C" "" "" "" "OPA1(NM_130837.2):c.1599T>C (p.S533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193644096T>C" "" "likely benign" ""
"0000304778" "0" "90" "3" "193377352" "193377352" "subst" "0" "01943" "OPA1_000411" "g.193377352T>C" "" "" "" "OPA1(NM_130837.2):c.2520+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193659563T>C" "" "pathogenic" ""
"0000304779" "0" "50" "3" "193384115" "193384115" "subst" "0" "01943" "OPA1_000414" "g.193384115C>G" "" "" "" "OPA1(NM_130837.2):c.2809C>G (p.R937G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193666326C>G" "" "VUS" ""
"0000304780" "0" "90" "3" "193384959" "193384962" "del" "0" "01943" "OPA1_000415" "g.193384959_193384962del" "" "" "" "OPA1(NM_130837.2):c.2873-2_2874delAGTT, OPA1(NM_130837.3):c.2873-2_2874delAGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000304781" "0" "50" "3" "193409878" "193409878" "subst" "0" "01943" "OPA1_000417" "g.193409878C>A" "" "" "" "OPA1(NM_130837.2):c.3010C>A (p.L1004I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193692089C>A" "" "VUS" ""
"0000304782" "0" "50" "3" "193333491" "193333491" "subst" "0.0000203117" "01943" "OPA1_000389" "g.193333491C>T" "" "" "" "OPA1(NM_130837.2):c.380C>T (p.P127L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193615702C>T" "" "VUS" ""
"0000304783" "0" "30" "3" "193333531" "193333531" "subst" "0.00839548" "01943" "OPA1_000042" "g.193333531G>T" "" "" "" "OPA1(NM_130837.2):c.420G>T (p.V140=), OPA1(NM_130837.3):c.420G>T (p.V140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193615742G>T" "" "likely benign" ""
"0000304784" "0" "10" "3" "193343873" "193343873" "subst" "0.00132815" "01943" "OPA1_000399" "g.193343873C>T" "" "" "" "OPA1(NM_130837.2):c.679-8C>T, OPA1(NM_130837.3):c.679-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193626084C>T" "" "benign" ""
"0000304785" "0" "55" "3" "193353232" "193353232" "subst" "0.0000203307" "01943" "OPA1_000400" "g.193353232G>A" "" "" "" "OPA1(NM_130837.2):c.869G>A (p.R290Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193635443G>A" "" "VUS" ""
"0000337412" "0" "10" "3" "193336639" "193336639" "subst" "0.425865" "02327" "OPA1_000046" "g.193336639T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193618850T>C" "" "benign" ""
"0000337414" "0" "10" "3" "193365939" "193365939" "subst" "0.0896545" "02327" "OPA1_000060" "g.193365939T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193648150T>G" "" "benign" ""
"0000339591" "0" "10" "3" "193374964" "193374964" "subst" "0.467524" "02327" "OPA1_000062" "g.193374964T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193657175T>C" "" "benign" ""
"0000342773" "0" "35" "3" "193332592" "193332609" "del" "0" "02327" "OPA1_000082" "g.193332592_193332609del" "" "" "" "OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del), OPA1(NM_130837.3):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193614803_193614820del" "" "likely benign" ""
"0000342874" "0" "70" "3" "193360795" "193360795" "subst" "0" "02327" "OPA1_000420" "g.193360795G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193643006G>A" "" "likely pathogenic" ""
"0000343517" "0" "90" "3" "193384964" "193384964" "subst" "0" "02327" "OPA1_000037" "g.193384964C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193667175C>T" "" "pathogenic" ""
"0000344749" "0" "90" "3" "193353273" "193353273" "subst" "0" "02327" "OPA1_000419" "g.193353273C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193635484C>T" "" "pathogenic" ""
"0000344915" "0" "97" "3" "193332660" "193332660" "subst" "0.00000410796" "02327" "OPA1_000158" "g.193332660C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193614871C>T" "" "pathogenic" ""
"0000344944" "0" "99" "3" "193372777" "193372777" "dup" "0" "02327" "OPA1_000422" "g.193372777dup" "" "" "" "OPA1(NM_130837.2):c.2139dupA (p.Q714Tfs*4), OPA1(NM_130837.3):c.2139dupA (p.Q714Tfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193654988dup" "" "pathogenic" ""
"0000346733" "0" "30" "3" "193361167" "193361167" "subst" "0.000634322" "02327" "OPA1_000174" "g.193361167A>G" "" "" "" "OPA1(NM_130837.2):c.1311A>G (p.I437M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193643378A>G" "" "likely benign" ""
"0000347596" "0" "99" "3" "193363378" "193363378" "subst" "0" "02327" "OPA1_000421" "g.193363378A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193645589A>T" "" "pathogenic" ""
"0000348748" "0" "10" "3" "193334991" "193334991" "subst" "0.468334" "02327" "OPA1_000043" "g.193334991G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193617202G>A" "" "benign" ""
"0000350993" "0" "90" "3" "193333560" "193333560" "subst" "0" "02327" "OPA1_000418" "g.193333560G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193615771G>T" "" "pathogenic" ""
"0000350994" "0" "70" "3" "193355075" "193355075" "subst" "0" "02327" "OPA1_000028" "g.193355075G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193637286G>A" "" "likely pathogenic" ""
"0000351524" "21" "10" "3" "193332592" "193332609" "del" "0" "00006" "OPA1_000082" "g.193332592_193332609del" "" "{PMID:Tingaud-Sequeira 2017:27890673}" "" "113_130del18" "" "Germline" "" "rs761926672" "0" "" "" "g.193614803_193614820del" "" "benign" ""
"0000353662" "1" "99" "3" "193332703" "193332703" "del" "0" "00091" "OPA1_000423" "g.193332703del" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614914del" "" "pathogenic" ""
"0000353663" "1" "99" "3" "193360765" "193360766" "dup" "0" "00091" "OPA1_000424" "g.193360765_193360766dup" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642976_193642977dup" "" "pathogenic" ""
"0000353664" "1" "99" "3" "193361318" "193361320" "del" "0" "00091" "OPA1_000425" "g.193361318_193361320delinsT" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643529_193643531delinsT" "" "pathogenic" ""
"0000353665" "0" "99" "3" "193353265" "193353265" "subst" "0" "00091" "OPA1_000426" "g.193353265T>G" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193635476T>G" "" "pathogenic" ""
"0000353674" "1" "97" "3" "193360749" "193360757" "del" "0" "00091" "OPA1_000427" "g.193360749_193360757delinsGCAG" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642960_193642968delinsGCAG" "" "pathogenic" ""
"0000355070" "0" "10" "3" "193355074" "193355074" "subst" "0.86997" "02327" "OPA1_000402" "g.193355074T>C" "" "" "" "OPA1(NM_130837.3):c.1035+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.193637285T>C" "" "benign" ""
"0000369055" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369056" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369057" "1" "90" "3" "193360636" "193360636" "subst" "0" "02411" "OPA1_000241" "g.193360636T>G" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193642847T>G" "" "pathogenic" ""
"0000369058" "1" "90" "3" "193360636" "193360636" "subst" "0" "02411" "OPA1_000241" "g.193360636T>G" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193642847T>G" "" "pathogenic" ""
"0000369059" "1" "90" "3" "193360636" "193360636" "subst" "0" "02411" "OPA1_000241" "g.193360636T>G" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193642847T>G" "" "pathogenic" ""
"0000369060" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369061" "0" "97" "3" "193361764" "193361764" "subst" "0" "02411" "OPA1_000097" "g.193361764A>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00107; Nucleotide change: A to T at 1313 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic" ""
"0000369062" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369063" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369064" "0" "97" "3" "193332669" "193332669" "del" "0" "02411" "OPA1_000165" "g.193332669del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00174; Nucleotide change: Deletion of T at 189 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614880del" "" "pathogenic" ""
"0000369065" "1" "99" "3" "193332703" "193332703" "del" "0" "02411" "OPA1_000423" "g.193332703del" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614914del" "" "pathogenic" ""
"0000369066" "0" "97" "3" "193360553" "193360553" "subst" "0" "02411" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000369067" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369068" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369069" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369070" "0" "97" "3" "193376706" "193376706" "subst" "0" "02411" "OPA1_000204" "g.193376706C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00213; Nucleotide change: C to T at 2197 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000369071" "0" "97" "3" "193377336" "193377336" "subst" "0.00016882" "02411" "OPA1_000206" "g.193377336C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00215; Nucleotide change: C to T at 2341 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193659547C>T" "" "pathogenic" ""
"0000369072" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369073" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369074" "0" "97" "3" "193366591" "193366591" "subst" "0" "02411" "OPA1_000245" "g.193366591T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00256; Nucleotide change: T to C at 1778 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648802T>C" "" "pathogenic" ""
"0000369075" "0" "97" "3" "193366591" "193366591" "subst" "0" "02411" "OPA1_000245" "g.193366591T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00256; Nucleotide change: T to C at 1778 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193648802T>C" "" "pathogenic" ""
"0000369076" "0" "97" "3" "193384976" "193384977" "del" "0" "02411" "OPA1_000233" "g.193384976_193384977del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00242; Nucleotide change: Deletion of AA at 2725_2726 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193667187_193667188del" "" "pathogenic" ""
"0000369077" "0" "97" "3" "193372695" "193372696" "del" "0" "02411" "OPA1_000200" "g.193372695_193372696del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00209; Nucleotide change: Deletion of AT at 1892_1893 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654906_193654907del" "" "pathogenic" ""
"0000369078" "0" "97" "3" "193372695" "193372696" "del" "0" "02411" "OPA1_000200" "g.193372695_193372696del" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00209; Nucleotide change: Deletion of AT at 1892_1893 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654906_193654907del" "" "pathogenic" ""
"0000369079" "1" "99" "3" "193360765" "193360766" "dup" "0" "02411" "OPA1_000424" "g.193360765_193360766dup" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642976_193642977dup" "" "pathogenic" ""
"0000369080" "0" "97" "3" "193372740" "193372740" "subst" "0" "02411" "OPA1_000199" "g.193372740C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00208; Nucleotide change: C to T at 1937 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193654951C>T" "" "pathogenic" ""
"0000369081" "0" "97" "3" "193409856" "193409856" "dup" "0" "02411" "OPA1_000305" "g.193409856dup" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193692067dup" "" "pathogenic" ""
"0000369082" "1" "99" "3" "193360553" "193360553" "subst" "0" "02411" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "IVS9-1G->A" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "yes" "rs879255510" "0" "" "" "g.193642764G>A" "{CV:5081}" "pathogenic (dominant)" ""
"0000369083" "0" "97" "3" "193360553" "193360553" "subst" "0" "02411" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000369084" "0" "97" "3" "193360553" "193360553" "subst" "0" "02411" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000369085" "1" "99" "3" "193361318" "193361320" "del" "0" "02411" "OPA1_000425" "g.193361318_193361320delinsT" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643529_193643531delinsT" "" "pathogenic" ""
"0000369086" "0" "97" "3" "193363357" "193363357" "subst" "0" "02411" "OPA1_000183" "g.193363357G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00192; Nucleotide change: G to A at 1459 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645568G>A" "" "pathogenic" ""
"0000369087" "0" "97" "3" "193363357" "193363357" "subst" "0" "02411" "OPA1_000183" "g.193363357G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00192; Nucleotide change: G to A at 1459 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645568G>A" "" "pathogenic" ""
"0000369088" "0" "97" "3" "193363357" "193363357" "subst" "0" "02411" "OPA1_000183" "g.193363357G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00192; Nucleotide change: G to A at 1459 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193645568G>A" "" "pathogenic" ""
"0000369089" "0" "97" "3" "193384084" "193384084" "subst" "0" "02411" "OPA1_000231" "g.193384084G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00240; Nucleotide change: G to A at 2614-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193666295G>A" "" "pathogenic" ""
"0000369090" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369091" "0" "97" "3" "193374868" "193374868" "subst" "0" "02411" "OPA1_000156" "g.193374868G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00166; Nucleotide change: G to A at 2014-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Activation of a cryptic acceptor site, deletion of the first nucleotide in exon 21 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193657079G>A" "" "pathogenic" ""
"0000369092" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369093" "0" "97" "3" "193355069" "193355069" "subst" "0" "02411" "OPA1_000020" "g.193355069G>A" "" "{PMID:Alexander 2000:11017080}" "" "" "eOPA1 identifier (obsolete):OA_00021; Nucleotide change: G to A at 869 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic" ""
"0000369094" "0" "97" "3" "193360553" "193360553" "subst" "0" "02411" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000369095" "0" "97" "3" "193354994" "193354997" "del" "0" "02411" "OPA1_000027" "g.193354994_193354997del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637205_193637208del" "" "pathogenic" ""
"0000369096" "0" "97" "3" "193354994" "193354997" "del" "0" "02411" "OPA1_000027" "g.193354994_193354997del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637205_193637208del" "" "pathogenic" ""
"0000369097" "0" "97" "3" "193376706" "193376706" "subst" "0" "02411" "OPA1_000204" "g.193376706C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00213; Nucleotide change: C to T at 2197 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000369098" "0" "97" "3" "193354994" "193354997" "del" "0" "02411" "OPA1_000027" "g.193354994_193354997del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637205_193637208del" "" "pathogenic" ""
"0000369099" "0" "97" "3" "193354994" "193354997" "del" "0" "02411" "OPA1_000027" "g.193354994_193354997del" "" "{PMID:Toomes 2001:11440989}" "" "" "eOPA1 identifier (obsolete):OA_00029; Nucleotide change: Deletion of 4 nucleotides at 794_797 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637205_193637208del" "" "pathogenic" ""
"0000369100" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369101" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369102" "0" "97" "3" "193365923" "193365923" "subst" "0" "02411" "OPA1_000192" "g.193365923G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00201; Nucleotide change: G to T at 1770 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193648134G>T" "" "pathogenic" ""
"0000369103" "0" "99" "3" "193353265" "193353265" "subst" "0" "02411" "OPA1_000426" "g.193353265T>G" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193635476T>G" "" "pathogenic" ""
"0000369104" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369105" "0" "97" "3" "193355740" "193355740" "subst" "0" "02411" "OPA1_000239" "g.193355740G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00249; Nucleotide change: G to A at 871-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637951G>A" "" "pathogenic" ""
"0000369106" "0" "97" "3" "193355740" "193355740" "subst" "0" "02411" "OPA1_000239" "g.193355740G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00249; Nucleotide change: G to A at 871-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637951G>A" "" "pathogenic" ""
"0000369107" "0" "97" "3" "193355740" "193355740" "subst" "0" "02411" "OPA1_000239" "g.193355740G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00249; Nucleotide change: G to A at 871-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193637951G>A" "" "pathogenic" ""
"0000369108" "1" "90" "3" "193360636" "193360636" "subst" "0" "02411" "OPA1_000241" "g.193360636T>G" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193642847T>G" "" "pathogenic" ""
"0000369109" "0" "97" "3" "193332718" "193332718" "subst" "0.000349653" "02411" "OPA1_000139" "g.193332718A>G" "" "{PMID:Han 2006:16617242}" "" "" "eOPA1 identifier (obsolete):OA_00148; Nucleotide change: A to G at 239 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614929A>G" "" "pathogenic" ""
"0000369110" "0" "55" "3" "193353232" "193353232" "subst" "0.0000203307" "02411" "OPA1_000400" "g.193353232G>A" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193635443G>A" "" "VUS" ""
"0000369111" "0" "97" "3" "193332784" "193332784" "subst" "0.000012308" "02411" "OPA1_000218" "g.193332784A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00227; Nucleotide change: A to G at 305 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193614995A>G" "" "pathogenic" ""
"0000369112" "0" "97" "3" "193364916" "193364916" "subst" "0" "02411" "OPA1_000226" "g.193364916G>A" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00235; Nucleotide change: G to A at 1652 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193647127G>A" "" "pathogenic" ""
"0000369113" "0" "97" "3" "193385071" "193385071" "subst" "0" "02411" "OPA1_000213" "g.193385071T>C" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00222; Nucleotide change: T to C at 2818+2 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193667282T>C" "" "pathogenic" ""
"0000369114" "0" "97" "3" "193376706" "193376706" "subst" "0" "02411" "OPA1_000204" "g.193376706C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00213; Nucleotide change: C to T at 2197 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000369115" "1" "99" "3" "193361318" "193361320" "del" "0" "02411" "OPA1_000425" "g.193361318_193361320delinsT" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643529_193643531delinsT" "" "pathogenic" ""
"0000369116" "0" "97" "3" "193376706" "193376706" "subst" "0" "02411" "OPA1_000204" "g.193376706C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00213; Nucleotide change: C to T at 2197 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000369117" "0" "97" "3" "193374868" "193374868" "subst" "0" "02411" "OPA1_000156" "g.193374868G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00166; Nucleotide change: G to A at 2014-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Activation of a cryptic acceptor site, deletion of the first nucleotide in exon 21 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193657079G>A" "" "pathogenic" ""
"0000369118" "0" "97" "3" "193374868" "193374868" "subst" "0" "02411" "OPA1_000156" "g.193374868G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00166; Nucleotide change: G to A at 2014-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Activation of a cryptic acceptor site, deletion of the first nucleotide in exon 21 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193657079G>A" "" "pathogenic" ""
"0000369119" "0" "97" "3" "193380725" "193380725" "subst" "0" "02411" "OPA1_000207" "g.193380725C>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00216; Nucleotide change: C to T at 2470 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000369120" "0" "95" "3" "193361167" "193361167" "subst" "0.000634322" "02411" "OPA1_000174" "g.193361167A>G" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00183; Nucleotide change: A to G at 1146 (reference: OPA1 transcript variant 1, NM_015560.1)" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "pathogenic" ""
"0000369121" "0" "97" "3" "193374868" "193374868" "subst" "0" "02411" "OPA1_000156" "g.193374868G>A" "" "{PMID:Schimpf 2006:16323009}" "" "" "eOPA1 identifier (obsolete):OA_00166; Nucleotide change: G to A at 2014-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Activation of a cryptic acceptor site, deletion of the first nucleotide in exon 21 (reference: OPA1 isoform 1, NP_056375.1)" "Germline" "" "" "0" "" "" "g.193657079G>A" "" "pathogenic" ""
"0000369122" "0" "97" "3" "193355855" "193355855" "subst" "0" "02411" "OPA1_000310" "g.193355855G>A" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193638066G>A" "" "pathogenic" ""
"0000369123" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369124" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369125" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369126" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369127" "0" "90" "3" "193361785" "193361785" "subst" "0" "02411" "OPA1_000104" "g.193361785G>A" "" "Trujillano et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.193643996G>A" "" "pathogenic" "ACMG"
"0000369128" "0" "97" "3" "193355855" "193355855" "subst" "0" "02411" "OPA1_000310" "g.193355855G>A" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193638066G>A" "" "pathogenic" ""
"0000369129" "0" "97" "3" "193355855" "193355855" "subst" "0" "02411" "OPA1_000310" "g.193355855G>A" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193638066G>A" "" "pathogenic" ""
"0000369130" "1" "90" "3" "193372684" "193372685" "del" "0" "02411" "OPA1_000013" "g.193372684_193372685del" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193654895_193654896del" "" "pathogenic" ""
"0000369131" "0" "97" "3" "193360553" "193360553" "subst" "0" "02411" "OPA1_000019" "g.193360553G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00020; Nucleotide change: G to A at 985-1 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature;Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193642764G>A" "" "pathogenic" ""
"0000369132" "0" "97" "3" "193372694" "193372695" "ins" "0" "02411" "OPA1_000198" "g.193372694_193372695insN[41]" "" "{PMID:Ferre 2009:19319978}" "" "c.1891_1892ins41 splicing defect" "eOPA1 identifier (obsolete):OA_00207; Nucleotide change: Insertion of 41 nucleotides at 1891_1892 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000369133" "0" "50" "3" "193332592" "193332609" "del" "0" "02411" "OPA1_000082" "g.193332592_193332609del" "" "Le Roux 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "VUS" ""
"0000369134" "0" "97" "3" "193355769" "193355769" "subst" "0" "02411" "OPA1_000018" "g.193355769G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00019; Nucleotide change: G to A at 899 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637980G>A" "" "pathogenic" ""
"0000369135" "0" "97" "3" "193355769" "193355769" "subst" "0" "02411" "OPA1_000018" "g.193355769G>A" "" "{PMID:Delettre 2000:11017079}" "" "" "eOPA1 identifier (obsolete):OA_00019; Nucleotide change: G to A at 899 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193637980G>A" "" "pathogenic" ""
"0000369136" "0" "97" "3" "193363341" "193363341" "subst" "0" "02411" "OPA1_000225" "g.193363341G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00234; Nucleotide change: G to T at 1444-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193645552G>T" "" "pathogenic" ""
"0000369137" "0" "97" "3" "193363341" "193363341" "subst" "0" "02411" "OPA1_000225" "g.193363341G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00234; Nucleotide change: G to T at 1444-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193645552G>T" "" "pathogenic" ""
"0000369138" "0" "97" "3" "193363341" "193363341" "subst" "0" "02411" "OPA1_000225" "g.193363341G>T" "" "{PMID:Ferre 2009:19319978}" "" "" "eOPA1 identifier (obsolete):OA_00234; Nucleotide change: G to T at 1444-1 (reference: OPA1 transcript variant 1, NM_015560.1); Consequence: Splicing defect" "Germline" "" "" "0" "" "" "g.193645552G>T" "" "pathogenic" ""
"0000369139" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369140" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000369141" "1" "97" "3" "193360749" "193360757" "del" "0" "02411" "OPA1_000427" "g.193360749_193360757delinsGCAG" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642960_193642968delinsGCAG" "" "pathogenic" ""
"0000369142" "1" "97" "3" "193360749" "193360757" "del" "0" "02411" "OPA1_000427" "g.193360749_193360757delinsGCAG" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642960_193642968delinsGCAG" "" "pathogenic" ""
"0000369143" "1" "97" "3" "193360749" "193360757" "del" "0" "02411" "OPA1_000427" "g.193360749_193360757delinsGCAG" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642960_193642968delinsGCAG" "" "pathogenic" ""
"0000369144" "0" "97" "3" "193361764" "193361764" "subst" "0" "02411" "OPA1_000097" "g.193361764A>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00107; Nucleotide change: A to T at 1313 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic" ""
"0000369145" "0" "97" "3" "193361764" "193361764" "subst" "0" "02411" "OPA1_000097" "g.193361764A>T" "" "{PMID:Pesch 2001:11440988}" "" "" "eOPA1 identifier (obsolete):OA_00107; Nucleotide change: A to T at 1313 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic" ""
"0000369146" "0" "99" "3" "193384959" "193384962" "del" "0" "02411" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Delettre 2000:11017079}" "" "c.2708delTTAG" "eOPA1 identifier (obsolete):OA_00017; Nucleotide change: Deletion of 4 nucleotides at 2708_2711 (reference: OPA1 transcript variant 1, NM_015560.1); Note: This mutation name has been modified according to the Nomenclature Working Group nomenclature" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000405007" "10" "97" "3" "193355758" "193355758" "subst" "0" "02564" "OPA1_000430" "g.193355758T>A" "" "{PMID:Ahmad 2015:26194196}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193637969T>A" "" "pathogenic" ""
"0000405547" "0" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000405548" "0" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000405549" "0" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000405551" "0" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000405552" "0" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000405553" "0" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "g.193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000405554" "21" "97" "3" "193046853" "194407385" "del" "0" "02564" "OPA1_000431" "g.(192000000_193046853)_(194407385_195000000)del" "" "{PMID:Biamino 2016:26620927}" "" "193046853_194407385del" "1.36 Mb deletion on chromosome 3q29 (position 193,046,853-194,407,385, assembly GRCh17/hg19) encompassing 10 RefSeq coding-genes: ATP13A4, OPA1, HES1, CPN2, GP5, LRRC15, ATP13A3, TMEM44, FAM34A, and LSG1" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" ""
"0000405555" "0" "97" "3" "193409852" "193409857" "del" "0" "02564" "OPA1_000436" "g.193409852_193409857del" "" "{PMID:Zhang 2014:25374051}" "" "Six-nucleotide deletion (c.2984-c.2989, AGAAAG)" "" "Germline" "" "" "0" "" "" "g.193692063_193692068del" "" "pathogenic" ""
"0000405556" "0" "75" "3" "193311175" "193311180" "del" "0" "02564" "OPA1_000437" "g.193311175_193311180del" "" "{PMID:Hayashi 2017:28668999}" "" "" "" "Germline" "" "" "0" "" "" "g.193593386_193593391del" "" "likely pathogenic" ""
"0000405557" "0" "97" "3" "193363360" "193363360" "subst" "0" "02564" "OPA1_000258" "g.193363360G>A" "" "{PMID:Carelli 2015:25820230}" "" "" "" "Germline" "" "" "0" "" "" "g.193645571G>A" "" "pathogenic" ""
"0000405558" "0" "97" "3" "193363360" "193363360" "subst" "0" "02564" "OPA1_000258" "g.193363360G>A" "" "{PMID:Carelli 2015:25820230}" "" "" "" "Germline" "" "" "0" "" "" "g.193645571G>A" "" "pathogenic" ""
"0000405559" "0" "97" "3" "193363382" "193363382" "subst" "0" "02564" "OPA1_000260" "g.193363382C>T" "" "{PMID:Carelli 2015:25820230}" "" "" "" "Germline" "" "" "0" "" "" "g.193645593C>T" "" "pathogenic" ""
"0000405560" "0" "95" "3" "193360593" "193360593" "subst" "0" "02564" "OPA1_000441" "g.193360593A>G" "" "{PMID:Cohen 2016:27265430 }" "" "" "" "De novo" "" "" "0" "" "" "g.193642804A>G" "" "pathogenic" ""
"0000405561" "0" "77" "3" "193355758" "193355758" "subst" "0" "02564" "OPA1_000430" "g.193355758T>A" "" "{PMID:Ahmad 2015:26194196}" "" "" "" "Germline" "" "" "0" "" "" "g.193637969T>A" "" "likely pathogenic" ""
"0000405562" "0" "77" "3" "193372739" "193372739" "dup" "0" "02564" "OPA1_000433" "g.193372739dup" "" "{PMID:Gaier 2017:28848318}" "" "chr3:193,372,737–8, ins T / Asn700 (727X)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654950dup" "" "likely pathogenic" ""
"0000405563" "0" "77" "3" "193380737" "193380737" "del" "0" "02564" "OPA1_000432" "g.193380737del" "" "{PMID:Gaier 2017:28848318}" "" "chr3:193,380,737, del G / Val883 (883X)" "" "Germline" "" "" "0" "" "" "g.193662948del" "" "likely pathogenic" ""
"0000405564" "0" "77" "3" "193364970" "193364970" "subst" "0" "02564" "OPA1_000154" "g.193364970G>T" "" "{PMID:Carelli 2015:25146916}" "" "" "" "Germline" "" "" "0" "" "" "g.193647181G>T" "" "likely pathogenic" ""
"0000405565" "0" "75" "3" "193361167" "193361167" "subst" "0.000634322" "02564" "OPA1_000174" "g.193361167A>G" "" "{PMID:Carelli 2015:25146916}" "" "" "" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "likely pathogenic" ""
"0000405566" "0" "77" "3" "193364970" "193364970" "subst" "0" "02564" "OPA1_000154" "g.193364970G>T" "" "{PMID:Carelli 2015:25146916}" "" "" "" "Germline" "" "" "0" "" "" "g.193647181G>T" "" "likely pathogenic" ""
"0000405567" "0" "95" "3" "193361415" "193361415" "subst" "0" "02564" "OPA1_000445" "g.193361415A>G" "" "{PMID:Bonifert 2014:24970096}" "" "" "" "Germline" "" "" "0" "" "" "g.193643626A>G" "" "pathogenic" ""
"0000405568" "0" "75" "3" "193355778" "193355778" "subst" "0" "02564" "OPA1_000434" "g.193355778G>A" "" "{PMID:Gaier 2017:28848318}" "" "chr3:193,355,778, G>A / Ser358Asn" "" "Germline" "" "" "0" "" "" "g.193637989G>A" "" "likely pathogenic" ""
"0000405569" "0" "95" "3" "193361782" "193361782" "subst" "0" "02564" "OPA1_000435" "g.193361782A>G" "" "{PMID:Gaier 2017:28848318}" "" "chr3:193,361,782, A>G / Glu499Gly" "" "Germline" "" "" "0" "" "" "g.193643993A>G" "" "pathogenic" ""
"0000405656" "0" "77" "3" "193355069" "193355069" "subst" "0" "02564" "OPA1_000020" "g.193355069G>A" "" "{PMID:Pretegiani 2017:29111013}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "likely pathogenic" ""
"0000405657" "0" "97" "3" "193360597" "193360597" "subst" "0.0000528374" "02564" "OPA1_000442" "g.193360597A>C" "" "{PMID:Pretegiani 2017:29111013}" "" "" "" "Germline" "" "" "0" "" "" "g.193642808A>C" "" "pathogenic" ""
"0000405658" "0" "97" "3" "193355804" "193355804" "subst" "0" "02564" "OPA1_000164" "g.193355804C>T" "" "{PMID:Pretegiani 2017:29111013}" "" "" "" "Germline" "" "" "0" "" "" "g.193638015C>T" "" "pathogenic" ""
"0000405659" "0" "95" "3" "193360584" "193360584" "subst" "0" "02564" "OPA1_000440" "g.193360584G>A" "" "{PMID:Rubegni 2017:28442211}" "" "" "" "Germline" "" "" "0" "" "" "g.193642795G>A" "" "pathogenic" ""
"0000405660" "0" "95" "3" "193384115" "193384115" "subst" "0.0000162496" "02564" "OPA1_000449" "g.193384115C>T" "" "{PMID:Rubegni 2017:28442211}" "" "" "" "Germline" "" "" "0" "" "" "g.193666326C>T" "" "pathogenic" ""
"0000405661" "0" "95" "3" "193343970" "193343970" "subst" "0.0000040621" "02564" "OPA1_000254" "g.193343970C>G" "" "{PMID:Yu-Wai-Man 2014:25012222}" "" "" "Variation in an alternative exon" "Germline" "" "" "0" "" "" "g.193626181C>G" "" "pathogenic" ""
"0000405662" "0" "90" "3" "193355054" "193355054" "subst" "0" "02564" "OPA1_000255" "g.193355054A>G" "" "{PMID:Yu-Wai-Man 2014:25012222}" "" "" "" "Germline" "" "" "0" "" "" "g.193637265A>G" "" "pathogenic" ""
"0000405663" "0" "97" "3" "193376699" "193376699" "subst" "0" "02564" "OPA1_000447" "g.193376699G>T" "" "{PMID:Yu-Wai-Man 2016:27656661 }" "" "" "" "Germline" "" "" "0" "" "" "g.193658910G>T" "" "pathogenic" ""
"0000405664" "0" "97" "3" "193355075" "193355075" "subst" "0" "02564" "OPA1_000028" "g.193355075G>A" "" "{PMID:Yu-Wai-Man 2016:27656661 }" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic" ""
"0000405665" "0" "97" "3" "193355075" "193355075" "subst" "0" "02564" "OPA1_000028" "g.193355075G>A" "" "{PMID:Yu-Wai-Man 2016:27656661 }" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic" ""
"0000405666" "0" "97" "3" "193364865" "193364865" "subst" "0" "02564" "OPA1_000446" "g.193364865T>G" "" "{PMID:Spiegel 2016:26561570 }" "" "" "" "Germline" "" "" "0" "" "" "g.193647076T>G" "" "pathogenic" ""
"0000405667" "0" "97" "3" "193332570" "193332570" "subst" "0" "02564" "OPA1_000438" "g.193332570C>T" "" "{PMID:Ścieżyńska 2017:28841713}" "" "" "" "Germline" "" "" "0" "" "" "g.193614781C>T" "" "pathogenic" ""
"0000405674" "11" "97" "3" "193385046" "193385054" "del" "0" "02564" "OPA1_000450" "g.193385046_193385054del" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193667257_193667265del" "" "pathogenic" ""
"0000405675" "21" "97" "3" "193409851" "193409854" "del" "0" "02564" "OPA1_000287" "g.193409851_193409854del" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193692062_193692065del" "" "pathogenic" ""
"0000405676" "21" "97" "3" "193409877" "193409877" "dup" "0" "02564" "OPA1_000451" "g.193409877dup" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193692088dup" "" "pathogenic" ""
"0000405677" "21" "97" "3" "193376744" "193376744" "subst" "0" "02564" "OPA1_000448" "g.193376744T>G" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193658955T>G" "" "pathogenic" ""
"0000405678" "11" "97" "3" "193361407" "193361407" "subst" "0" "02564" "OPA1_000444" "g.193361407T>C" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193643618T>C" "" "pathogenic" ""
"0000405679" "21" "97" "3" "193361853" "193361853" "subst" "0" "02564" "OPA1_000098" "g.193361853A>G" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193644064A>G" "" "pathogenic" ""
"0000405681" "0" "97" "3" "193336712" "193336713" "ins" "0" "02564" "OPA1_000439" "g.193336712_193336713insACTGGAGAATGTAAAGGGCTTT" "" "{PMID:Bolognini 2017:28245802}" "" "" "" "Germline" "" "" "0" "" "" "g.193618923_193618924insACTGGAGAATGTAAAGGGCTTT" "" "pathogenic" ""
"0000405682" "0" "97" "3" "193366664" "193366667" "del" "0" "02564" "OPA1_000240" "g.193366664_193366667del" "" "{PMID:Bolognini 2017:28245802}" "" "" "" "Germline" "" "" "0" "" "" "g.193648875_193648878del" "" "pathogenic" ""
"0000405683" "0" "97" "3" "193380725" "193380725" "subst" "0" "02564" "OPA1_000207" "g.193380725C>T" "" "{PMID:Bonneau 2015:25012220}" "" "" "" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic" ""
"0000405684" "0" "95" "3" "193361167" "193361167" "subst" "0.000634322" "02564" "OPA1_000174" "g.193361167A>G" "" "{PMID:Bonneau 2015:25012220}" "" "" "" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "pathogenic" ""
"0000405750" "0" "97" "3" "193361225" "193361225" "subst" "0" "02564" "OPA1_000454" "g.193361225G>A" "" "{PMID:Bonneau 2015:25012220}" "" "" "" "Germline" "" "" "0" "" "" "g.193643436G>A" "" "pathogenic" ""
"0000405752" "0" "75" "3" "193361167" "193361167" "subst" "0.000634322" "02564" "OPA1_000174" "g.193361167A>G" "" "{PMID:Bonneau 2015:25012220}" "" "" "" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "likely pathogenic" ""
"0000405756" "0" "97" "3" "193409851" "193415602" "del" "0" "02564" "OPA1_000456" "g.(193000000_193409851)_(193415602_194000000)del" "" "{PMID:Lynch 2017:28955727}" "" "Heterozygous deletion of exons 28 and 29 of OPA1" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000405757" "0" "97" "3" "193355746" "193355748" "del" "0" "02564" "OPA1_000261" "g.193355746_193355748del" "" "{PMID:Kamakari 2014:24883014}" "" "" "" "Germline" "" "" "0" "" "" "g.193637957_193637959del" "" "pathogenic" ""
"0000405758" "0" "97" "3" "193354983" "193354983" "subst" "0" "02564" "OPA1_000452" "g.193354983G>T" "" "{PMID:Kamakari 2014:24883014}" "" "" "" "Germline" "" "" "0" "" "" "g.193637194G>T" "" "pathogenic" ""
"0000405759" "0" "97" "3" "193380621" "193380621" "del" "0" "02564" "OPA1_000015" "g.193380621del" "" "{PMID:Kamakari 2014:24883014}" "" "" "" "Germline" "" "" "0" "" "" "g.193662832del" "" "pathogenic" ""
"0000405760" "0" "97" "3" "193360843" "193360843" "subst" "0" "02564" "OPA1_000172" "g.193360843G>C" "" "{PMID:Kamakari 2014:24883014}" "" "" "" "Germline" "" "" "0" "" "" "g.193643054G>C" "" "pathogenic" ""
"0000405761" "0" "97" "3" "193360554" "193360554" "subst" "0" "02564" "OPA1_000453" "g.193360554G>T" "" "{PMID:Lida 2016:26854526}" "" "" "" "Germline" "" "" "0" "" "" "g.193642765G>T" "" "pathogenic" ""
"0000405763" "0" "97" "3" "193364956" "193364956" "del" "0" "02564" "OPA1_000455" "g.193364956del" "" "{PMID:Lee 2016:27150940}" "" "" "" "Germline" "" "" "0" "" "" "g.193647167del" "" "pathogenic" ""
"0000405847" "20" "97" "3" "193354979" "193354980" "ins" "0" "02564" "OPA1_000457" "g.193354979_193354980insMK031169.1" "" "{PMID:Gallus 2010:20157369}, {PMID:Pretegiani 2017:29111013}" "" "Alu-element insertion located in intron 7 of OPA1 causing an in-frame deletion of exon 8; c.949-21_22InsAluYb8" "Inserted sequence (AluYb8):\r\n\r\n>MK031169.1 Homo sapiens SINE AluYb8, complete sequence; and disrupted optic atrophy 1 (OPA1) gene, partial sequence\r\nTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC\r\nTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT\r\nCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT\r\nTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG\r\nCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG\r\nAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT\r\nCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGC\r\nTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAACTTTT\r\nTAAAATTTTT" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637190_193637191insMK031169.1" "" "pathogenic" ""
"0000405861" "0" "97" "3" "193384959" "193384962" "del" "0" "02564" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Pretegiani 2017:29111013}" "" "c.2873_2876delTTGA" "ERROR: Deletion of TTAG (published as c.2873_2876delTTGA instead)" "Germline/De novo (untested)" "no" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000405864" "0" "97" "3" "193385022" "193385024" "del" "0" "02564" "OPA1_000458" "g.193385022_193385024del" "" "{PMID:Pretegiani 2017:29111013}" "" "" "" "Germline/De novo (untested)" "no" "" "0" "" "" "g.193667233_193667235del" "" "pathogenic" ""
"0000405865" "1" "50" "3" "193355074" "193355074" "subst" "0.86997" "02564" "OPA1_000402" "g.193355074T>C" "" "{PMID:Yu-Wai-Man (2010):19581274}, {PMID:Pretegiani 2017:29111013}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637285T>C" "" "VUS" ""
"0000405866" "2" "50" "3" "193355102" "193355102" "subst" "0.424922" "02564" "OPA1_000050" "g.193355102T>C" "" "{PMID:Yu-Wai-Man (2010):19581274}, {PMID:Pretegiani 2017:29111013}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637313T>C" "" "VUS" ""
"0000405867" "11" "97" "3" "193385074" "193385074" "subst" "0" "02564" "OPA1_000262" "g.193385074G>A" "" "{PMID:Li 2018:29952689}" "" "NM_130837.2:c.2983+5C>A" "" "Germline" "yes" "" "0" "" "" "g.193667285G>A" "" "pathogenic" ""
"0000405869" "11" "97" "3" "193361405" "193361405" "subst" "0" "02564" "OPA1_000443" "g.193361405T>C" "" "{PMID:Li 2018:29952689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193643616T>C" "" "pathogenic" ""
"0000406235" "1" "97" "3" "193311196" "193311196" "del" "0" "00091" "OPA1_000462" "g.193311196del" "" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "BstNI-, PspGI-, ScrFI-, SfiI-, StyD4I-" "c.30delC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193593407del" "" "pathogenic" ""
"0000406236" "1" "97" "3" "193311169" "193311169" "subst" "0" "00091" "OPA1_000348" "g.193311169G>A" "" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "BtsCI-, FokI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193593380G>A" "" "pathogenic" ""
"0000406237" "1" "97" "3" "193332592" "193332609" "del" "0" "00091" "OPA1_000082" "g.193332592_193332609del" "" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "Hpy188III-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614803_193614820del" "" "pathogenic" ""
"0000406238" "1" "97" "3" "193332622" "193332622" "subst" "0" "00091" "OPA1_000467" "g.193332622T>G" "" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "LpnPI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614833T>G" "" "pathogenic" ""
"0000406239" "1" "97" "3" "193332529" "193332529" "subst" "0" "00091" "OPA1_000465" "g.193332529T>G" "" "Amati-Bonneau P, Angers2014 (unpublished); Le Roux 2019, submitted" "BpuEI+, SmlI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614740T>G" "" "pathogenic" ""
"0000406240" "1" "93" "3" "193332522" "193332522" "subst" "0.00648103" "00091" "OPA1_000318" "g.193332522C>A" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "HpyCH4V+, BsrI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614733C>A" "" "likely benign" ""
"0000406241" "1" "97" "3" "193332724" "193332724" "subst" "0.000024653" "00091" "OPA1_000468" "g.193332724A>G" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "ApeKI+, BbvI+, Cac8I+, Fnu4HI+, MwoI+, TseI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614935A>G" "" "pathogenic" ""
"0000406242" "1" "97" "3" "193332823" "193332823" "subst" "0.0002257" "00091" "OPA1_000253" "g.193332823C>T" "" "Amati-Bonneau P, Angers 2017 (unpublished); Le Roux 2019, submitted" "HpyCH4III+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193615034C>T" "" "pathogenic" ""
"0000406243" "1" "97" "3" "193333530" "193333530" "del" "0" "00091" "OPA1_000469" "g.193333530del" "" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "BslI+" "c.419delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193615741del" "" "pathogenic" ""
"0000406244" "1" "97" "3" "193333533" "193333533" "subst" "0" "00091" "OPA1_000470" "g.193333533G>A" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193615744G>A" "" "pathogenic" ""
"0000406245" "1" "97" "3" "193349407" "193349410" "del" "0" "00091" "OPA1_000248" "g.193349407_193349410del" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "Hpy188I-" "c.631-634del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193631618_193631621del" "" "pathogenic" ""
"0000406246" "1" "97" "3" "193353265" "193353265" "subst" "0" "00091" "OPA1_000426" "g.193353265T>G" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193635476T>G" "" "pathogenic" ""
"0000406247" "1" "97" "3" "193353284" "193353285" "del" "0" "00091" "OPA1_000472" "g.193353284_193353285del" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193635495_193635496del" "" "pathogenic" ""
"0000406248" "1" "97" "3" "193354982" "193354982" "subst" "0" "00091" "OPA1_000361" "g.193354982A>G" "" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "FspEI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637193A>G" "" "pathogenic" ""
"0000406249" "1" "97" "3" "193355003" "193355003" "subst" "0" "00091" "OPA1_000277" "g.193355003A>G" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637214A>G" "" "pathogenic" ""
"0000406250" "1" "97" "3" "193355053" "193355053" "subst" "0" "00091" "OPA1_000474" "g.193355053C>T" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "BsaAI+, HpyCH4IV+, SnaBI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637264C>T" "" "pathogenic" ""
"0000406251" "1" "97" "3" "193360604" "193360604" "del" "0" "00091" "OPA1_000480" "g.193360604del" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "HpaII+, LpnPI+, MspI+, NciI+, ScrFI+, StyD4I+, AvaI-, BsoBI-, Hpy188III-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642815del" "" "pathogenic" ""
"0000406252" "1" "97" "3" "193355071" "193355071" "del" "0" "00091" "OPA1_000475" "g.193355071del" "" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "HpyCH4III+, MslI-" "c.870+1delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637282del" "" "pathogenic" ""
"0000406253" "1" "97" "3" "193355073" "193355073" "subst" "0" "00091" "OPA1_000477" "g.193355073A>C" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "MslI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637284A>C" "" "pathogenic" ""
"0000406254" "1" "97" "3" "193355855" "193355855" "subst" "0" "00091" "OPA1_000479" "g.193355855G>C" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "AluI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193638066G>C" "" "pathogenic" ""
"0000406255" "1" "97" "3" "193360639" "193360639" "subst" "0" "00091" "OPA1_000392" "g.193360639G>A" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642850G>A" "" "pathogenic" ""
"0000406256" "1" "97" "3" "193360838" "193360838" "subst" "0" "00091" "OPA1_000481" "g.193360838G>C" "" "Amati-Bonneau P, Angers 2014 (unpublished); Le Roux 2019, submitted" "HpyCH4IV+, BspCNI-, Bsu36I-, DdeI-, MnlI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643049G>C" "" "pathogenic" ""
"0000406257" "1" "97" "3" "193361220" "193361220" "subst" "0" "00091" "OPA1_000486" "g.193361220C>T" "" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "BfaI+, BstNI-, LpnPI-, PspGI-, ScrFI-, SexAI-, StyD4I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643431C>T" "" "pathogenic" ""
"0000406258" "1" "97" "3" "193361233" "193361233" "del" "0" "00091" "OPA1_000313" "g.193361233del" "" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "AseI-" "c.1212delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643444del" "" "pathogenic" ""
"0000406259" "1" "97" "3" "193361180" "193361180" "subst" "0" "00091" "OPA1_000483" "g.193361180A>T" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643391A>T" "" "pathogenic" ""
"0000406260" "1" "97" "3" "193361386" "193361386" "subst" "0" "00091" "OPA1_000492" "g.193361386A>C" "" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "ApeKI+, BbvI+, BtsCI+, Fnu4HI+, FokI+, MslI+, SfaNI+, TseI+, HinfI-, TfiI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643597A>C" "" "pathogenic" ""
"0000406261" "1" "97" "3" "193361331" "193361331" "dup" "0" "00091" "OPA1_000489" "g.193361331dup" "" "Amati-Bonneau P, Angers2013 (unpublished); Le Roux 2019, submitted" "BsaJI+, BtgI+, HaeIII+, NcoI+, StyI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643542dup" "" "pathogenic" ""
"0000406262" "1" "97" "3" "193361356" "193361356" "del" "0" "00091" "OPA1_000490" "g.193361356del" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643567del" "" "pathogenic" ""
"0000406263" "1" "97" "3" "193360794" "193360794" "subst" "0" "00091" "OPA1_000001" "g.193360794C>T" "" "Amati-Bonneau P, 2017 (unpublished); Le Roux 2019, submitted" "BstBI-, TaqI-" "c.1261C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643005C>T" "" "pathogenic" ""
"0000406264" "1" "97" "3" "193361863" "193361863" "subst" "0" "00091" "OPA1_000276" "g.193361863T>C" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "HpaII+, MspI+, NciI+, BstNI-, PspGI-, XcmI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193644074T>C" "" "pathogenic" ""
"0000406265" "1" "97" "3" "193361896" "193361896" "subst" "0" "00091" "OPA1_000496" "g.193361896T>C" "" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "HphI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193644107T>C" "" "pathogenic" ""
"0000406266" "1" "97" "3" "193361827" "193361827" "subst" "0" "00091" "OPA1_000294" "g.193361827G>A" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "BspHI+, Hpy188III+, HpyAV-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193644038G>A" "" "pathogenic" ""
"0000406267" "1" "97" "3" "193361836" "193361836" "subst" "0.00000812665" "00091" "OPA1_000495" "g.193361836C>T" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "HinfI+, TfiI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193644047C>T" "" "pathogenic" ""
"0000406268" "1" "97" "3" "193363549" "193363550" "del" "0" "00091" "OPA1_000497" "g.193363549_193363550del" "" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "c.1549_1550delGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645760_193645761del" "" "pathogenic" ""
"0000406269" "1" "97" "3" "193363549" "193363550" "dup" "0" "00091" "OPA1_000498" "g.193363549_193363550dup" "" "Amati-Bonneau P, Angers2010 (unpublished); Le Roux 2019, submitted" "" "c.1549_1550dupGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645760_193645761dup" "" "pathogenic" ""
"0000406270" "1" "97" "3" "193363569" "193363569" "del" "0" "00091" "OPA1_000499" "g.193363569del" "" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "c.1569delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645780del" "" "pathogenic" ""
"0000406271" "1" "97" "3" "193363590" "193363590" "subst" "0" "00091" "OPA1_000501" "g.193363590G>A" "" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645801G>A" "" "pathogenic" ""
"0000406272" "1" "97" "3" "193363591" "193363591" "subst" "0" "00091" "OPA1_000502" "g.193363591T>G" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "MnlI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645802T>G" "" "pathogenic" ""
"0000406273" "1" "97" "3" "193363569" "193363569" "dup" "0" "00091" "OPA1_000017" "g.193363569dup" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645780dup" "" "pathogenic" ""
"0000406274" "1" "97" "3" "193364905" "193364917" "del" "0" "00091" "OPA1_000504" "g.193364905_193364917del" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "Hpy188I-, HpyCH4V-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193647116_193647128del" "" "pathogenic" ""
"0000406275" "1" "97" "3" "193364970" "193364970" "subst" "0" "00091" "OPA1_000506" "g.193364970G>C" "" "Amati-Bonneau P, 2015 (unpublished); Le Roux 2019, submitted" "AluI+, DdeI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193647181G>C" "" "pathogenic" ""
"0000406276" "1" "97" "3" "193366623" "193366623" "subst" "0" "00091" "OPA1_000509" "g.193366623G>T" "" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "MseI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193648834G>T" "" "pathogenic" ""
"0000406277" "1" "97" "3" "193366587" "193366587" "del" "0" "00091" "OPA1_000508" "g.193366587del" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "c.1774delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193648798del" "" "pathogenic" ""
"0000406278" "1" "97" "3" "193366664" "193366667" "del" "0" "00091" "OPA1_000240" "g.193366664_193366667del" "" "Amati-Bonneau P, (unpublished); Le Roux 2019, submitted" "" "c.1847+1_1847+4delGTAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193648875_193648878del" "" "pathogenic" ""
"0000406279" "1" "97" "3" "193372764" "193372764" "del" "0" "00091" "OPA1_000515" "g.193372764del" "" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "BaeI (2)+, EcoRV-" "c.1961delA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654975del" "" "pathogenic" ""
"0000406280" "1" "97" "3" "193372684" "193372685" "del" "0" "00091" "OPA1_000013" "g.193372684_193372685del" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654895_193654896del" "" "pathogenic" ""
"0000406281" "1" "97" "3" "193372682" "193372682" "del" "0" "00091" "OPA1_000511" "g.193372682del" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "EarI+, MboII+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654893del" "" "pathogenic" ""
"0000406282" "1" "97" "3" "193372800" "193372800" "del" "0" "00091" "OPA1_000516" "g.193372800del" "" "Amati-Bonneau P, Angers2015 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193655011del" "" "pathogenic" ""
"0000406283" "1" "97" "3" "193372764" "193372764" "subst" "0" "00091" "OPA1_000391" "g.193372764A>G" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "EcoRV-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654975A>G" "" "pathogenic" ""
"0000406284" "1" "97" "3" "193372727" "193372727" "subst" "0" "00091" "OPA1_000513" "g.193372727C>T" "" "Amati-Bonneau P, Angers 2015 (unpublished); Le Roux 2019, submitted" "AccI+, Hpy166II+, FspI-, HhaI-, HinP1I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654938C>T" "" "pathogenic" ""
"0000406285" "1" "97" "3" "193372757" "193372757" "subst" "0" "00091" "OPA1_000514" "g.193372757A>G" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "AciI+, BtsI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654968A>G" "" "pathogenic" ""
"0000406286" "1" "97" "3" "193374952" "193374952" "del" "0" "00091" "OPA1_000518" "g.193374952del" "" "Amati-Bonneau P, Angers 2012 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193657163del" "" "pathogenic" ""
"0000406287" "1" "97" "3" "193376682" "193376683" "del" "0" "00091" "OPA1_000522" "g.193376682_193376683del" "" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "" "c.2173_2174delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193658893_193658894del" "" "pathogenic" ""
"0000406288" "1" "97" "3" "193377343" "193377343" "subst" "0" "00091" "OPA1_000524" "g.193377343A>G" "" "Amati-Bonneau P, Angers 2010 (unpublished); Le Roux 2019, submitted" "AvaI+, BsoBI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193659554A>G" "" "pathogenic" ""
"0000406289" "1" "97" "3" "193380709" "193380709" "del" "0" "00091" "OPA1_000525" "g.193380709del" "" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "Hpy188I+, BsaWI-, BslI-, BspEI-, HpaII-, LpnPI-, MspI-" "c.2454delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193662920del" "" "pathogenic" ""
"0000406290" "1" "97" "3" "193380751" "193380751" "subst" "0" "00091" "OPA1_000526" "g.193380751G>A" "" "Amati-Bonneau P, Angers 2013 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193662962G>A" "" "pathogenic" ""
"0000406291" "1" "97" "3" "193385034" "193385034" "subst" "0" "00091" "OPA1_000534" "g.193385034T>C" "" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193667245T>C" "" "pathogenic" ""
"0000406292" "1" "97" "3" "193384985" "193384985" "subst" "0" "00091" "OPA1_000533" "g.193384985G>T" "" "Amati-Bonneau P, Angers 2016 (unpublished); Le Roux 2019, submitted" "MnlI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193667196G>T" "" "pathogenic" ""
"0000406293" "1" "97" "3" "193385069" "193385069" "subst" "0" "00091" "OPA1_000535" "g.193385069A>T" "" "Amati-Bonneau P, Angers 2014 (unpublished); Le Roux 2019, submitted" "BspCNI-, BtsIMutI-, DdeI-, TspRI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193667280A>T" "" "pathogenic" ""
"0000406294" "1" "97" "3" "193385034" "193385034" "subst" "0" "00091" "OPA1_000534" "g.193385034T>C" "" "Amati-Bonneau P, Angers 2011 (unpublished); Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193667245T>C" "" "pathogenic" ""
"0000406295" "1" "97" "3" "193332512" "193332512" "subst" "0" "02564" "OPA1_000464" "g.193332512T>A" "" "{PMID:Chen 2014:25205859}" "Hpy188I+, BtsIMutI-, TspRI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614723T>A" "" "pathogenic" ""
"0000406296" "1" "97" "3" "193332550" "193332552" "del" "0" "02564" "OPA1_000466" "g.193332550_193332552delinsAG" "" "{PMID:Chen 2014:25205859}" "HpyAV+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614761_193614763delinsAG" "" "pathogenic" ""
"0000406297" "1" "97" "3" "193355003" "193355003" "subst" "0" "02564" "OPA1_000277" "g.193355003A>G" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637214A>G" "" "pathogenic" ""
"0000406298" "1" "97" "3" "193354982" "193354982" "subst" "0" "02564" "OPA1_000361" "g.193354982A>G" "" "{PMID:Chen 2014:25205859}" "FspEI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637193A>G" "" "pathogenic" ""
"0000406299" "1" "97" "3" "193354982" "193354982" "subst" "0" "02564" "OPA1_000473" "g.193354982A>C" "" "{PMID:Chen 2014:25205859}" "FspEI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637193A>C" "" "pathogenic" ""
"0000406300" "1" "97" "3" "193355071" "193355071" "subst" "0" "02564" "OPA1_000476" "g.193355071G>A" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637282G>A" "" "pathogenic" ""
"0000406301" "1" "97" "3" "193355746" "193355748" "del" "0" "02564" "OPA1_000261" "g.193355746_193355748del" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637957_193637959del" "" "pathogenic" ""
"0000406302" "1" "97" "3" "193355777" "193355777" "subst" "0" "02564" "OPA1_000478" "g.193355777A>G" "" "{PMID:Chen 2014:25205859}" "BsrI+, BfaI-, SpeI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193637988A>G" "" "pathogenic" ""
"0000406303" "1" "97" "3" "193360639" "193360639" "subst" "0" "02564" "OPA1_000392" "g.193360639G>A" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642850G>A" "" "pathogenic" ""
"0000406304" "1" "97" "3" "193361222" "193361222" "subst" "0" "02564" "OPA1_000487" "g.193361222G>C" "" "{PMID:Chen 2014:25205859}" "AflIII+, BsaAI+, HpyCH4IV+, PmlI+, BstNI-, LpnPI-, PspGI-, ScrFI-, SexAI-, StyD4I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643433G>C" "" "pathogenic" ""
"0000406305" "1" "97" "3" "193361366" "193361368" "dup" "0" "02564" "OPA1_000491" "g.193361366_193361368dup" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643577_193643579dup" "" "pathogenic" ""
"0000406306" "1" "97" "3" "193361408" "193361408" "subst" "0" "02564" "OPA1_000494" "g.193361408G>A" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643619G>A" "" "pathogenic" ""
"0000406307" "1" "97" "3" "193361405" "193361405" "subst" "0" "02564" "OPA1_000493" "g.193361405T>G" "" "{PMID:Chen 2014:25205859}" "BslI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643616T>G" "" "pathogenic" ""
"0000406308" "1" "97" "3" "193364934" "193364934" "subst" "0" "02564" "OPA1_000129" "g.193364934G>C" "" "{PMID:Chen 2014:25205859}" "Acc65I+, AlwNI+, BanI+, KpnI+, NlaIV+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193647145G>C" "" "pathogenic" ""
"0000406309" "1" "97" "3" "193366662" "193366662" "subst" "0" "02564" "OPA1_000510" "g.193366662T>G" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193648873T>G" "" "pathogenic" ""
"0000406310" "1" "97" "3" "193375008" "193375008" "subst" "0" "02564" "OPA1_000520" "g.193375008C>A" "" "{PMID:Chen 2014:25205859}" "BseRI+, AciI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193657219C>A" "" "pathogenic" ""
"0000406311" "1" "97" "3" "193374996" "193374996" "subst" "0" "02564" "OPA1_000519" "g.193374996G>A" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193657207G>A" "" "pathogenic" ""
"0000406312" "1" "97" "3" "193382725" "193382726" "ins" "0" "02564" "OPA1_000527" "g.193382725_193382726insA" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193664936_193664937insA" "" "pathogenic" ""
"0000406313" "1" "97" "3" "193384125" "193384125" "subst" "0.00000406243" "02564" "OPA1_000530" "g.193384125G>A" "" "{PMID:Chen 2014:25205859}" "HhaI-, HinP1I-, SphI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193666336G>A" "" "pathogenic" ""
"0000406314" "1" "97" "3" "193384088" "193384088" "subst" "0" "02564" "OPA1_000528" "g.193384088G>T" "" "{PMID:Chen 2014:25205859}" "BsmI-, MmeI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193666299G>T" "" "pathogenic" ""
"0000406315" "1" "97" "3" "193384152" "193384152" "subst" "0" "02564" "OPA1_000531" "g.193384152T>A" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193666363T>A" "" "pathogenic" ""
"0000406316" "1" "97" "3" "193384109" "193384113" "del" "0" "02564" "OPA1_000529" "g.193384109_193384113del" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193666320_193666324del" "" "pathogenic" ""
"0000406317" "1" "97" "3" "193409879" "193409879" "subst" "0" "02564" "OPA1_000537" "g.193409879T>G" "" "{PMID:Chen 2014:25205859}" "HpyCH4IV+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193692090T>G" "" "pathogenic" ""
"0000406318" "1" "97" "3" "193310933" "193311199" "del" "0" "02564" "OPA1_000461" "g.(193300000_193310933)_(193311199_193332511)del" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000406319" "1" "97" "3" "193361316" "193361417" "del" "0" "02564" "OPA1_000488" "g.(193361234_193361316)_(193361417_193361763)del" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000406320" "1" "97" "3" "193332511" "193332831" "dup" "0" "02564" "OPA1_000463" "g.(193311199_193332511)_(193332831_193333462)dup" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000406321" "1" "97" "3" "193365858" "193376785" "dup" "0" "02564" "OPA1_000507" "g.(193364970_193365858)_(193376785_193377270)dup" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000406322" "1" "97" "3" "193376675" "193376785" "del" "0" "02564" "OPA1_000521" "g.(193375022_193376675)_(193376785_193377270)del" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000406323" "1" "97" "3" "193377270" "193384179" "dup" "0" "02564" "OPA1_000523" "g.(193376785_193377270)_(193384179_193384958)dup" "" "{PMID:Chen 2014:25205859}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000406324" "1" "97" "3" "193334933" "193334933" "dup" "0" "02564" "OPA1_000471" "g.193334933dup" "" "{PMID:Li 2017:28081242}" "AflII+, MseI+, SmlI+, DdeI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193617144dup" "" "pathogenic" ""
"0000406325" "1" "97" "3" "193361205" "193361205" "subst" "0" "02564" "OPA1_000484" "g.193361205T>G" "" "{PMID:Li 2017:28081242}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643416T>G" "" "pathogenic" ""
"0000406326" "1" "97" "3" "193361219" "193361219" "subst" "0" "02564" "OPA1_000485" "g.193361219C>A" "" "{PMID:Li 2017:28081242}" "BstNI-, PspGI-, ScrFI-, SexAI-, StyD4I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643430C>A" "" "pathogenic" ""
"0000406327" "1" "97" "3" "193361162" "193361162" "subst" "0" "02564" "OPA1_000482" "g.193361162A>T" "" "{PMID:Li 2017:28081242}" "AccI-,Hpy166II-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643373A>T" "" "pathogenic" ""
"0000406328" "1" "97" "3" "193363570" "193363571" "ins" "0" "02564" "OPA1_000500" "g.193363570_193363571insT" "" "{PMID:Li 2017:28081242}" "BfaI+, Hpy188III+, XbaI+, Hpy188I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645781_193645782insT" "" "pathogenic" ""
"0000406329" "1" "97" "3" "193364874" "193364885" "del" "0" "02564" "OPA1_000503" "g.193364874_193364885del" "" "{PMID:Li 2017:28081242}" "BanI+, NlaIV+, DraIII-, Tsp45I-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193647085_193647096del" "" "pathogenic" ""
"0000406330" "1" "97" "3" "193364931" "193364931" "subst" "0" "02564" "OPA1_000505" "g.193364931T>A" "" "{PMID:Li 2017:28081242}" "BaeI (2)-, CviQI-, RsaI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193647142T>A" "" "pathogenic" ""
"0000406331" "1" "97" "3" "193372689" "193372689" "subst" "0" "02564" "OPA1_000512" "g.193372689C>G" "" "{PMID:Li 2017:28081242}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654900C>G" "" "pathogenic" ""
"0000406332" "1" "97" "3" "193374829" "193374829" "subst" "0" "02564" "OPA1_000517" "g.193374829G>C" "" "{PMID:Li 2017:28081242}" "BfaI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193657040G>C" "" "pathogenic" ""
"0000406333" "1" "97" "3" "193384178" "193384178" "subst" "0" "02564" "OPA1_000532" "g.193384178G>A" "" "{PMID:Li 2017:28081242}" "AcuI-, HpyAV-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193666389G>A" "" "pathogenic" ""
"0000406334" "1" "97" "3" "193385070" "193385070" "subst" "0" "02564" "OPA1_000536" "g.193385070G>A" "" "{PMID:Li 2017:28081242}" "BspCNI-, BtsIMutI-, DdeI-, TspRI-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193667281G>A" "" "pathogenic" ""
"0000406335" "1" "77" "3" "193361167" "193361167" "subst" "0.000634322" "02564" "OPA1_000445" "g.193361167A>G" "" "{PMID:Nasca 2017:28494813}" "LpnPI+" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643378A>G" "" "likely pathogenic" ""
"0000406336" "2" "77" "3" "193332669" "193332673" "del" "0" "02564" "OPA1_000459" "g.193332669_193332673del" "" "{PMID:Nasca 2017:28494813}" "EarI-,MboII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614880_193614884del" "" "likely pathogenic" ""
"0000406337" "1" "13" "3" "193361167" "193361167" "subst" "0.000634322" "02564" "OPA1_000174" "g.193361167A>G" "" "{PMID:Nasca 2017:28494813}" "CviAII+,FatI+,NlaIII+,PflFI+,Tth111I+" "NM_130837.2:c.1146A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643378A>G" "" "benign" ""
"0000406338" "2" "77" "3" "193385048" "193385048" "subst" "0" "02564" "OPA1_000460" "g.193385048G>T" "" "{PMID:Nasca 2017:28494813}" "AflIII-,BstUI-,MluI" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193667259G>T" "" "likely pathogenic" ""
"0000406339" "1" "77" "3" "193360584" "193360584" "subst" "0" "02564" "OPA1_000440" "g.193360584G>A" "" "{PMID:Nasca 2017:28494813}" "Tsp45I+,CviKI_1-,HaeIII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642795G>A" "" "likely pathogenic" ""
"0000406340" "1" "13" "3" "193332669" "193332673" "del" "0" "02564" "OPA1_000459" "g.193332669_193332673del" "" "{PMID:Nasca 2017:28494813}" "EarI-,MboII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193614880_193614884del" "" "benign" ""
"0000406341" "1" "77" "3" "193361415" "193361415" "subst" "0" "02564" "OPA1_000445" "g.193361415A>G" "" "{PMID:Nasca 2017:28494813}" "LpnPI+" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000406342" "1" "13" "3" "193361415" "193361415" "subst" "0" "02564" "OPA1_000445" "g.193361415A>G" "" "{PMID:Nasca 2017:28494813}" "LpnPI+" "NM_130837.2:c.1146A>G" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" ""
"0000406343" "2" "77" "3" "193360584" "193360584" "subst" "0" "02564" "OPA1_000440" "g.193360584G>A" "" "{PMID:Nasca 2017:28494813}" "Tsp45I+,CviKI_1-,HaeIII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642795G>A" "" "likely pathogenic" ""
"0000406344" "1" "13" "3" "193360584" "193360584" "subst" "0" "02564" "OPA1_000440" "g.193360584G>A" "" "{PMID:Nasca 2017:28494813}" "Tsp45I+,CviKI_1-,HaeIII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642795G>A" "" "benign" ""
"0000406345" "1" "13" "3" "193360584" "193360584" "subst" "0" "02564" "OPA1_000440" "g.193360584G>A" "" "{PMID:Nasca 2017:28494813}" "Tsp45I+,CviKI_1-,HaeIII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642795G>A" "" "benign" ""
"0000406346" "1" "13" "3" "193360584" "193360584" "subst" "0" "02564" "OPA1_000440" "g.193360584G>A" "" "{PMID:Nasca 2017:28494813}" "Tsp45I+,CviKI_1-,HaeIII-" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193642795G>A" "" "benign" ""
"0000453963" "1" "97" "3" "193361895" "193361895" "subst" "0" "00091" "OPA1_000538" "g.193361895G>T" "" "Le Roux 2019, submitted" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193644106G>T" "" "likely pathogenic" ""
"0000474405" "10" "99" "3" "193372766" "193372767" "dup" "0" "00091" "OPA1_000539" "g.193372766_193372767dup" "" "{PMID:Zerem 2019:30972688}" "" "c.1963_1964dupAT; p.Lys656fs (NM_015560.2)" "" "De novo" "yes" "" "0" "" "" "g.193654977_193654978dup" "" "pathogenic" ""
"0000474406" "21" "55" "3" "193361167" "193361167" "subst" "0.000634322" "00091" "OPA1_000174" "g.193361167A>G" "" "{PMID:Zerem 2019:30972688}" "" "c.1146A > G; Ile382Met (NM_015560.2)" "" "Germline" "-" "" "0" "" "" "g.193643378A>G" "" "VUS" ""
"0000474407" "1" "75" "3" "193372641" "193372643" "del" "0" "00091" "OPA1_000540" "g.193372641_193372643del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193654852_193654854del" "" "VUS" ""
"0000484075" "1" "55" "3" "193377297" "193377297" "subst" "0" "00091" "OPA1_000541" "g.193377297G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193659508G>A" "" "VUS" ""
"0000487036" "11" "99" "3" "193332611" "193332611" "dup" "0" "00091" "OPA1_000542" "g.193332611dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.193614822dup" "" "pathogenic (dominant)" ""
"0000487410" "1" "99" "3" "193332741" "193332742" "del" "0" "00091" "OPA1_000543" "g.193332741_193332742delinsC" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193614952_193614953delinsC" "" "pathogenic (dominant)" ""
"0000487440" "1" "99" "3" "193363345" "193363345" "subst" "0" "00091" "OPA1_000186" "g.193363345C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193645556C>T" "" "pathogenic (dominant)" ""
"0000487441" "1" "99" "3" "193332672" "193332673" "del" "0" "00091" "OPA1_000544" "g.193332672_193332673del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193614883_193614884del" "" "pathogenic (dominant)" ""
"0000518775" "0" "50" "3" "193311159" "193311159" "subst" "0.000117995" "02327" "OPA1_000545" "g.193311159C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193593370C>T" "" "VUS" ""
"0000518776" "0" "90" "3" "193311167" "193311167" "subst" "0" "02327" "OPA1_000546" "g.193311167A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193593378A>T" "" "pathogenic" ""
"0000518777" "0" "30" "3" "193332508" "193332508" "subst" "0" "01943" "OPA1_000547" "g.193332508T>G" "" "" "" "OPA1(NM_130837.2):c.33-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614719T>G" "" "likely benign" ""
"0000518778" "0" "30" "3" "193332549" "193332549" "subst" "0.000221598" "02330" "OPA1_000321" "g.193332549A>G" "" "" "" "OPA1(NM_130837.2):c.70A>G (p.I24V), OPA1(NM_130837.3):c.70A>G (p.I24V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614760A>G" "" "likely benign" ""
"0000518779" "0" "30" "3" "193332567" "193332567" "subst" "0.000164148" "02330" "OPA1_000548" "g.193332567C>T" "" "" "" "OPA1(NM_130837.3):c.88C>T (p.L30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614778C>T" "" "likely benign" ""
"0000518780" "0" "30" "3" "193332592" "193332609" "del" "0" "02330" "OPA1_000082" "g.193332592_193332609del" "" "" "" "OPA1(NM_130837.2):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del), OPA1(NM_130837.3):c.113_130delGAAGCATTTATCATTCAC (p.R38_S43del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614803_193614820del" "" "likely benign" ""
"0000518781" "0" "30" "3" "193332661" "193332661" "subst" "0.000525728" "01943" "OPA1_000549" "g.193332661A>G" "" "" "" "OPA1(NM_130837.2):c.182A>G (p.Q61R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614872A>G" "" "likely benign" ""
"0000518782" "0" "50" "3" "193332724" "193332724" "subst" "0.000024653" "02325" "OPA1_000468" "g.193332724A>G" "" "" "" "OPA1(NM_130837.3):c.245A>G (p.Y82C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614935A>G" "" "VUS" ""
"0000518783" "0" "50" "3" "193332763" "193332763" "subst" "0.00014771" "01943" "OPA1_000167" "g.193332763C>T" "" "" "" "OPA1(NM_130837.2):c.284C>T (p.T95M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614974C>T" "" "VUS" ""
"0000518784" "0" "50" "3" "193335035" "193335035" "subst" "0.000101621" "02330" "OPA1_000550" "g.193335035G>A" "" "" "" "OPA1(NM_130837.3):c.517G>A (p.V173I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193617246G>A" "" "VUS" ""
"0000518785" "0" "50" "3" "193335608" "193335608" "subst" "0.0000243819" "01943" "OPA1_000398" "g.193335608G>A" "" "" "" "OPA1(NM_130837.2):c.592G>A (p.D198N), OPA1(NM_130837.3):c.592G>A (p.D198N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193617819G>A" "" "VUS" ""
"0000518786" "0" "10" "3" "193343873" "193343873" "subst" "0.00132815" "02330" "OPA1_000399" "g.193343873C>T" "" "" "" "OPA1(NM_130837.2):c.679-8C>T, OPA1(NM_130837.3):c.679-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193626084C>T" "" "benign" ""
"0000518787" "0" "10" "3" "193349389" "193349389" "subst" "0" "02330" "OPA1_000551" "g.193349389T>A" "" "" "" "OPA1(NM_130837.3):c.790-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193631600T>A" "" "benign" ""
"0000518788" "0" "50" "3" "193355070" "193355070" "subst" "0" "02327" "OPA1_000552" "g.193355070G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193637281G>A" "" "VUS" ""
"0000518789" "0" "50" "3" "193355835" "193355837" "del" "0" "01943" "OPA1_000553" "g.193355835_193355837del" "" "" "" "OPA1(NM_130837.2):c.1130_1132delTGA (p.M377del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193638046_193638048del" "" "VUS" ""
"0000518790" "0" "30" "3" "193360794" "193360794" "subst" "0" "02330" "OPA1_000053" "g.193360794C>A" "" "" "" "OPA1(NM_130837.3):c.1261C>A (p.R421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193643005C>A" "" "likely benign" ""
"0000518791" "0" "30" "3" "193360835" "193360835" "subst" "0.000464169" "01943" "OPA1_000329" "g.193360835T>G" "" "" "" "OPA1(NM_130837.2):c.1302T>G (p.P434=), OPA1(NM_130837.3):c.1302T>G (p.P434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193643046T>G" "" "likely benign" ""
"0000518792" "0" "50" "3" "193361167" "193361167" "subst" "0.000634322" "01943" "OPA1_000174" "g.193361167A>G" "" "" "" "OPA1(NM_130837.2):c.1311A>G (p.I437M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193643378A>G" "" "VUS" ""
"0000518793" "0" "50" "3" "193361844" "193361844" "subst" "0" "02327" "OPA1_000554" "g.193361844G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193644055G>T" "" "VUS" ""
"0000518794" "0" "50" "3" "193361856" "193361856" "subst" "0" "02330" "OPA1_000555" "g.193361856G>A" "" "" "" "OPA1(NM_130837.3):c.1570G>A (p.V524I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193644067G>A" "" "VUS" ""
"0000518795" "0" "30" "3" "193363584" "193363584" "subst" "0" "01943" "OPA1_000556" "g.193363584C>T" "" "" "" "OPA1(NM_130837.2):c.1749C>T (p.L583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193645795C>T" "" "likely benign" ""
"0000518796" "0" "50" "3" "193364885" "193364885" "subst" "0" "01943" "OPA1_000557" "g.193364885A>G" "" "" "" "OPA1(NM_130837.2):c.1786A>G (p.T596A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193647096A>G" "" "VUS" ""
"0000518797" "0" "90" "3" "193366593" "193366596" "del" "0" "01943" "OPA1_000034" "g.193366593_193366596del" "" "" "" "OPA1(NM_130837.2):c.1945_1948delTTTG (p.F649Kfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193648804_193648807del" "" "pathogenic" ""
"0000518798" "0" "10" "3" "193372726" "193372726" "subst" "0.00037423" "02330" "OPA1_000558" "g.193372726G>A" "" "" "" "OPA1(NM_130837.2):c.2088G>A (p.A696=), OPA1(NM_130837.3):c.2088G>A (p.A696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193654937G>A" "" "benign" ""
"0000518799" "0" "30" "3" "193372726" "193372726" "subst" "0.00037423" "01943" "OPA1_000558" "g.193372726G>A" "" "" "" "OPA1(NM_130837.2):c.2088G>A (p.A696=), OPA1(NM_130837.3):c.2088G>A (p.A696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193654937G>A" "" "likely benign" ""
"0000518800" "0" "50" "3" "193372761" "193372761" "subst" "0" "02329" "OPA1_000559" "g.193372761T>G" "" "" "" "OPA1(NM_130837.3):c.2123T>G (p.V708G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193654972T>G" "" "VUS" ""
"0000518801" "0" "50" "3" "193374903" "193374903" "subst" "0.0000325412" "01943" "OPA1_000409" "g.193374903G>A" "" "" "" "OPA1(NM_130837.2):c.2213G>A (p.R738H), OPA1(NM_130837.3):c.2213G>A (p.R738H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193657114G>A" "" "VUS" ""
"0000518802" "0" "70" "3" "193376785" "193376785" "subst" "0" "02330" "OPA1_000560" "g.193376785G>T" "" "" "" "OPA1(NM_130837.3):c.2440+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193658996G>T" "" "likely pathogenic" ""
"0000518803" "0" "30" "3" "193377267" "193377267" "dup" "0" "01943" "OPA1_000561" "g.193377267dup" "" "" "" "OPA1(NM_130837.2):c.2441-4dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193659478dup" "" "likely benign" ""
"0000518804" "0" "10" "3" "193380595" "193380595" "subst" "0.000209294" "02330" "OPA1_000562" "g.193380595T>A" "" "" "" "OPA1(NM_130837.3):c.2521-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193662806T>A" "" "benign" ""
"0000518805" "0" "10" "3" "193382651" "193382651" "subst" "0.0000530959" "02330" "OPA1_000563" "g.193382651T>C" "" "" "" "OPA1(NM_130837.3):c.2662-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193664862T>C" "" "benign" ""
"0000518806" "0" "90" "3" "193384152" "193384152" "dup" "0" "02325" "OPA1_000109" "g.193384152dup" "" "" "" "OPA1(NM_130837.3):c.2846dupT (p.L949Ffs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193666363dup" "" "pathogenic" ""
"0000518807" "0" "50" "3" "193384949" "193384949" "subst" "0" "02327" "OPA1_000081" "g.193384949C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193667160C>G" "" "VUS" ""
"0000518808" "0" "90" "3" "193384959" "193384962" "del" "0" "02330" "OPA1_000016" "g.193384959_193384962del" "" "" "" "OPA1(NM_130837.2):c.2873-2_2874delAGTT, OPA1(NM_130837.3):c.2873-2_2874delAGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193667170_193667173del" "" "pathogenic" ""
"0000518809" "0" "50" "3" "193385037" "193385037" "subst" "0" "02327" "OPA1_000564" "g.193385037C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193667248C>G" "" "VUS" ""
"0000518810" "0" "70" "3" "193385075" "193385075" "subst" "0" "02327" "OPA1_000080" "g.193385075T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193667286T>C" "" "likely pathogenic" ""
"0000518811" "0" "30" "3" "193409848" "193409848" "subst" "0.000481868" "01943" "OPA1_000416" "g.193409848A>G" "" "" "" "OPA1(NM_015560.2):c.2819-4A>G (p.?), OPA1(NM_130837.2):c.2984-4A>G, OPA1(NM_130837.3):c.2984-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193692059A>G" "" "likely benign" ""
"0000518812" "0" "30" "3" "193409848" "193409848" "subst" "0.000481868" "01804" "OPA1_000416" "g.193409848A>G" "" "" "" "OPA1(NM_015560.2):c.2819-4A>G (p.?), OPA1(NM_130837.2):c.2984-4A>G, OPA1(NM_130837.3):c.2984-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193692059A>G" "" "likely benign" ""
"0000597360" "1" "99" "3" "193332688" "193332688" "subst" "0" "00091" "OPA1_000566" "g.193332688T>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193614899T>A" "" "pathogenic" ""
"0000598564" "11" "97" "3" "193349413" "193349413" "del" "0" "00091" "OPA1_000567" "g.193349413del" "" "" "" "" "Variant inherited from the asymptomatic father" "De novo" "no" "" "0" "" "" "g.193631624del" "" "likely pathogenic (dominant)" ""
"0000604199" "1" "99" "3" "193366623" "193366623" "subst" "0" "00091" "OPA1_000509" "g.193366623G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193648834G>T" "" "pathogenic (dominant)" ""
"0000608451" "0" "30" "3" "193332718" "193332718" "subst" "0.000349653" "02330" "OPA1_000139" "g.193332718A>G" "" "" "" "OPA1(NM_130837.3):c.239A>G (p.Y80C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614929A>G" "" "likely benign" ""
"0000608452" "0" "30" "3" "193333531" "193333531" "subst" "0.00839548" "02327" "OPA1_000042" "g.193333531G>T" "" "" "" "OPA1(NM_130837.2):c.420G>T (p.V140=), OPA1(NM_130837.3):c.420G>T (p.V140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193615742G>T" "" "likely benign" ""
"0000608453" "0" "90" "3" "193349415" "193349416" "del" "0" "02330" "OPA1_000263" "g.193349415_193349416del" "" "" "" "OPA1(NM_130837.3):c.804_805delGA (p.K269Nfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193631626_193631627del" "" "pathogenic" ""
"0000608454" "0" "70" "3" "193360539" "193360702" "del" "0" "02327" "OPA1_000571" "g.193360539_193360702del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193642750_193642913del" "" "likely pathogenic" ""
"0000608455" "0" "90" "3" "193366596" "193366596" "dup" "0" "02327" "OPA1_000573" "g.193366596dup" "" "" "" "OPA1(NM_130837.2):c.1948dupG (p.E650Gfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193648807dup" "" "pathogenic" ""
"0000621225" "0" "50" "3" "193311164" "193311164" "subst" "0" "02330" "OPA1_000568" "g.193311164G>A" "" "" "" "OPA1(NM_130837.3):c.-3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193593375G>A" "" "VUS" ""
"0000621226" "0" "30" "3" "193332716" "193332716" "subst" "0" "01943" "OPA1_000569" "g.193332716A>G" "" "" "" "OPA1(NM_130837.2):c.237A>G (p.K79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193614927A>G" "" "likely benign" ""
"0000621227" "0" "10" "3" "193336676" "193336676" "subst" "0.0227145" "01943" "OPA1_000048" "g.193336676C>T" "" "" "" "OPA1(NM_130837.2):c.629C>T (p.A210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193618887C>T" "" "benign" ""
"0000621228" "0" "30" "3" "193354986" "193354986" "subst" "0" "02330" "OPA1_000570" "g.193354986A>G" "" "" "" "OPA1(NM_130837.3):c.951A>G (p.K317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193637197A>G" "" "likely benign" ""
"0000621229" "0" "50" "3" "193361785" "193361785" "subst" "0" "01943" "OPA1_000572" "g.193361785G>T" "" "" "" "OPA1(NM_130837.2):c.1499G>T (p.R500L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193643996G>T" "" "VUS" ""
"0000621230" "0" "90" "3" "193364951" "193364951" "subst" "0" "02330" "OPA1_000297" "g.193364951C>T" "" "" "" "OPA1(NM_130837.3):c.1852C>T (p.Q618*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193647162C>T" "" "pathogenic" ""
"0000621231" "0" "90" "3" "193376706" "193376706" "subst" "0" "02330" "OPA1_000204" "g.193376706C>T" "" "" "" "OPA1(NM_130837.3):c.2362C>T (p.R788*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193658917C>T" "" "pathogenic" ""
"0000629286" "21" "90" "3" "193361167" "193361167" "subst" "0.000634322" "00006" "OPA1_000174" "g.193361167A>G" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "pathogenic (dominant)" ""
"0000630994" "1" "97" "3" "193366583" "193366583" "subst" "0" "00091" "OPA1_000575" "g.193366583G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193648794G>A" "" "pathogenic (dominant)" ""
"0000631978" "0" "50" "3" "193380725" "193380725" "subst" "0" "00006" "OPA1_000207" "g.193380725C>T" "" "{PMID:Eising 2018:29463886}" "" "2581C>T (R861*)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193662936C>T" "" "VUS" ""
"0000644240" "1" "99" "3" "193376706" "193376706" "subst" "0" "00091" "OPA1_000204" "g.193376706C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193658917C>T" "" "pathogenic (dominant)" ""
"0000644241" "1" "77" "3" "193364899" "193364899" "subst" "0" "00091" "OPA1_000190" "g.193364899C>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193647110C>G" "" "pathogenic (dominant)" ""
"0000644242" "1" "99" "3" "193349405" "193349405" "subst" "0" "00091" "OPA1_000088" "g.193349405C>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193631616C>A" "" "pathogenic (dominant)" ""
"0000644243" "1" "77" "3" "193376714" "193376714" "del" "0" "00091" "OPA1_000576" "g.193376714del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193658925del" "" "likely pathogenic (dominant)" ""
"0000647121" "0" "90" "3" "193409858" "193409861" "del" "0" "01164" "OPA1_000040" "g.193409858_193409861del" "" "" "" "" "ACMG: PVS1,PM2,PP1,PP5; Optic atrophy on both sides at age 6y; Delettre et al. 2000. Nat Genet 26: 207; Gaier et al. 2017. Mol Vis 23: 548" "Germline" "" "rs879255560" "0" "" "" "g.193692069_193692072del" "" "pathogenic" "ACMG"
"0000651163" "1" "30" "3" "193336676" "193336676" "subst" "0.0227145" "03575" "OPA1_000048" "g.193336676C>T" "83/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "83 heterozygous, no homozygous; {DB:CLININrs34307082}" "Germline" "" "rs34307082" "0" "" "" "g.193618887C>T" "" "likely benign" ""
"0000651164" "1" "50" "3" "193361167" "193361167" "subst" "0.000634322" "03575" "OPA1_000174" "g.193361167A>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs143319805}" "Germline" "" "rs143319805" "0" "" "" "g.193643378A>G" "" "VUS" ""
"0000651165" "1" "30" "3" "193364872" "193364872" "subst" "0.0255196" "03575" "OPA1_000114" "g.193364872A>C" "154/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "154 heterozygous, no homozygous; {DB:CLININrs78767626}" "Germline" "" "rs78767626" "0" "" "" "g.193647083A>C" "" "likely benign" ""
"0000651166" "1" "90" "3" "193374914" "193374915" "del" "0" "03575" "OPA1_000203" "g.193374914_193374915del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727345}" "Germline" "" "rs794727345" "0" "" "" "g.193657125_193657126del" "" "pathogenic" ""
"0000651167" "1" "30" "3" "193414675" "193414675" "subst" "0" "03575" "OPA1_000577" "g.193414675T>C" "99/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "99 heterozygous, no homozygous; {DB:CLININrs115575058}" "Germline" "" "rs115575058" "0" "" "" "g.193696886T>C" "" "likely benign" ""
"0000653464" "0" "90" "3" "193376706" "193376706" "subst" "0" "01164" "OPA1_000204" "g.193376706C>T" "" "" "" "" "ACMG: PVS1,PM2,PP5; Li et al. 2008. Mol Vis 14: 2451" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic" "ACMG"
"0000653471" "0" "90" "3" "193364951" "193364951" "subst" "0" "01164" "OPA1_000297" "g.193364951C>T" "" "" "" "" "ACMG: PVS1,PM2; Almind et al. 2012. BMC Med Genet 12: 65" "Germline" "" "" "0" "" "" "g.193647162C>T" "" "pathogenic" "ACMG"
"0000654863" "0" "10" "3" "193336676" "193336676" "subst" "0.0227145" "02327" "OPA1_000048" "g.193336676C>T" "" "" "" "OPA1(NM_130837.2):c.629C>T (p.A210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193618887C>T" "" "benign" ""
"0000654864" "0" "10" "3" "193364872" "193364872" "subst" "0.0255196" "02327" "OPA1_000114" "g.193364872A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193647083A>C" "" "benign" ""
"0000654866" "0" "50" "3" "193384173" "193384173" "subst" "0.00000406263" "01943" "OPA1_000578" "g.193384173C>T" "" "" "" "OPA1(NM_130837.2):c.2867C>T (p.T956I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.193666384C>T" "" "VUS" ""
"0000659694" "0" "90" "3" "193360794" "193360794" "subst" "0" "01164" "OPA1_000001" "g.193360794C>T" "" "" "" "" "ACMG grading: PVS1,PM2,PP1,PP5; Alexander et al. 2000. Nat Genet 26: 211" "Germline" "" "rs104893753" "0" "" "" "g.193643005C>T" "" "pathogenic" "ACMG"
"0000659718" "0" "70" "3" "193360839" "193360839" "subst" "0" "01164" "OPA1_000008" "g.193360839G>A" "" "" "" "" "ACMG grading: PVS1,PM2; Baris et al. 2003. Hum Mutat 21: 656" "Germline" "" "rs745927258" "0" "" "" "g.193643050G>A" "" "likely pathogenic" "ACMG"
"0000659779" "0" "70" "3" "193376750" "193376750" "del" "0" "01164" "OPA1_000579" "g.193376750del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.193658961del" "" "likely pathogenic" "ACMG"
"0000660108" "0" "90" "3" "193384959" "193384962" "del" "0" "01164" "OPA1_000016" "g.193384959_193384962del" "" "" "" "" "ACMG grading: PVS1,PS3,PP5; Delettre et al. 2000. NatGenet 26: 207; Dames et al. 2013. JMolDiagn 15: 526; Pretegiani et al. 2011. Brain 134: e195; Sanatarelli et al. 2015. Brain 138: 563" "Germline" "" "rs745560444" "0" "" "" "g.193667170_193667173del" "" "pathogenic" "ACMG"
"0000660663" "0" "70" "3" "193376728" "193376740" "del" "0" "01164" "OPA1_000583" "g.193376728_193376740del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.193658939_193658951del" "" "likely pathogenic" "ACMG"
"0000660672" "0" "50" "3" "193363417" "193363417" "subst" "0" "01164" "OPA1_000582" "g.193363417A>G" "" "" "" "" "ACMG grading: PM2" "Germline" "" "" "0" "" "" "g.193645628A>G" "" "VUS" "ACMG"
"0000660674" "0" "70" "3" "193361234" "193361234" "subst" "0" "01164" "OPA1_000112" "g.193361234G>T" "" "" "" "" "ACMG grading: PVS1,PM2; Cascavilla et al. 2018. Acta Ophthalmol 96: e156; Delettre et al. 2011. Hum Genet 109: 584" "Germline" "" "" "0" "" "" "g.193643445G>T" "" "likely pathogenic" "ACMG"
"0000663248" "1" "77" "3" "193372815" "193372815" "subst" "0" "00091" "OPA1_000580" "g.193372815A>C" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.193655026A>C" "" "likely pathogenic (dominant)" ""
"0000663249" "1" "77" "3" "193380752" "193380752" "subst" "0" "00091" "OPA1_000209" "g.193380752G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.193662963G>T" "" "likely pathogenic (dominant)" ""
"0000663250" "1" "77" "3" "193311173" "193311173" "subst" "0" "00091" "OPA1_000581" "g.193311173C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193593384C>T" "" "likely pathogenic (dominant)" ""
"0000663251" "0" "77" "3" "193361220" "193361220" "subst" "0" "00091" "OPA1_000486" "g.193361220C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643431C>T" "" "likely pathogenic (dominant)" ""
"0000665280" "1" "97" "3" "193384086" "193384086" "del" "0" "00091" "OPA1_000584" "g.193384086del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193666297del" "" "likely pathogenic (dominant)" ""
"0000665281" "1" "99" "3" "193336666" "193336666" "dup" "0" "00091" "OPA1_000585" "g.193336666dup" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.193618877dup" "" "pathogenic (dominant)" ""
"0000665325" "0" "70" "3" "193355075" "193355075" "subst" "0" "01164" "OPA1_000028" "g.193355075G>A" "" "" "" "" "Toomes et al. 2001. Hum 10: 1369; Yu-Wai-Man et al. 2016. Ann 3: 723" "Germline" "" "rs754576717" "0" "" "" "g.193637286G>A" "" "likely pathogenic" ""
"0000665803" "0" "70" "3" "193332552" "193332552" "subst" "0" "01164" "OPA1_000586" "g.193332552A>T" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.193614763A>T" "" "likely pathogenic" "ACMG"
"0000674006" "0" "90" "3" "193385048" "193385052" "del" "0" "01807" "OPA1_000587" "g.193385048_193385052del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000676911" "0" "90" "3" "193361785" "193361785" "subst" "0" "02327" "OPA1_000104" "g.193361785G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000682791" "1" "99" "3" "193384959" "193384962" "del" "0" "00091" "OPA1_000016" "g.193384959_193384962del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000682793" "1" "99" "3" "193355798" "193355798" "subst" "0" "00091" "OPA1_000588" "g.193355798C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000682794" "1" "99" "3" "193384959" "193384962" "del" "0" "00091" "OPA1_000016" "g.193384959_193384962del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000683274" "0" "90" "3" "193384959" "193384962" "del" "0" "01164" "OPA1_000016" "g.193384959_193384962del" "" "Delettre et al. 2000. NatGenet 26: 207; Dames et al. 2013. JMolDiagn 15: 526; Pretegiani et al. 2011. Brain 134: e195; Sanatarelli et al. 2015. Brain 138: 563" "" "" "ACMG grading: PVS1,PS3,PP5" "Germline" "" "rs745560444" "0" "" "" "g.193667170_193667173del" "" "pathogenic" "ACMG"
"0000689000" "0" "30" "3" "193332549" "193332549" "subst" "0.000221598" "01943" "OPA1_000321" "g.193332549A>G" "" "" "" "OPA1(NM_130837.2):c.70A>G (p.I24V), OPA1(NM_130837.3):c.70A>G (p.I24V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689001" "0" "30" "3" "193332733" "193332733" "subst" "0.000156032" "01943" "OPA1_000589" "g.193332733G>A" "" "" "" "OPA1(NM_130837.2):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693924" "0" "90" "3" "193364899" "193364899" "subst" "0" "01164" "OPA1_000160" "g.193364899C>A" "" "" "" "" "ACMG grading: PS1,PS4,PM2,PP1,PP3; Nakamura et al. 2006. Ophthalmology 113: 483; Yu-Wai-Man et al. 2011. Brain 136: 164; Zurita-Díaz et al. 2017. Stem Cell Res 24: 81" "Germline" "" "rs398124298" "0" "" "" "" "" "pathogenic" "ACMG"
"0000701828" "0" "70" "3" "193364926" "193364927" "del" "0" "01164" "OPA1_000590" "g.193364926_193364927del" "" "" "" "" "ACMG: PVS1, PM2" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000708823" "1" "77" "3" "193384083" "193384083" "subst" "0" "00091" "OPA1_000591" "g.193384083A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000708824" "0" "77" "3" "193333485" "193333485" "subst" "0" "00091" "OPA1_000592" "g.193333485T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000708825" "0" "99" "3" "193384084" "193384084" "subst" "0" "00091" "OPA1_000231" "g.193384084G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000708844" "0" "77" "3" "193360606" "193360606" "subst" "0" "00091" "OPA1_000593" "g.193360606G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000711884" "1" "97" "3" "193361315" "193361315" "subst" "0" "00091" "OPA1_000177" "g.193361315A>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000712072" "1" "07" "3" "193374893" "193374893" "subst" "0" "00091" "OPA1_000594" "g.193374893G>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000712074" "0" "99" "3" "193366587" "193366587" "subst" "0" "00091" "OPA1_000595" "g.193366587G>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000712741" "1" "55" "3" "193376772" "193376772" "subst" "0" "00091" "OPA1_000596" "g.193376772C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000714000" "1" "70" "3" "193343987" "193343987" "subst" "0" "00000" "OPA1_000597" "g.193343987G>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.193626198G>C" "" "likely pathogenic (dominant)" ""
"0000714001" "1" "50" "3" "193374903" "193374903" "subst" "0.0000325412" "00000" "OPA1_000409" "g.193374903G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.193657114G>A" "" "VUS" ""
"0000719311" "0" "30" "3" "193332717" "193332717" "subst" "0" "01943" "OPA1_000598" "g.193332717T>C" "" "" "" "OPA1(NM_130837.2):c.238T>C (p.Y80H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000719312" "0" "50" "3" "193372777" "193372777" "dup" "0" "01943" "OPA1_000422" "g.193372777dup" "" "" "" "OPA1(NM_130837.2):c.2139dupA (p.Q714Tfs*4), OPA1(NM_130837.3):c.2139dupA (p.Q714Tfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000719313" "0" "90" "3" "193377319" "193377319" "subst" "0" "02330" "OPA1_000599" "g.193377319G>A" "" "" "" "OPA1(NM_130837.3):c.2489G>A (p.W830*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000719314" "0" "50" "3" "193409882" "193409882" "subst" "0" "02329" "OPA1_000565" "g.193409882A>C" "" "" "" "OPA1(NM_130837.3):c.3014A>C (p.D1005A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000731563" "1" "50" "3" "193332823" "193332823" "subst" "0.0002257" "00000" "OPA1_000253" "g.193332823C>T" "" "{PMID:Comander 2017:28981474}" "" "" "" "Germline" "" "" "0" "" "" "g.193615034C>T" "" "VUS" ""
"0000733001" "0" "70" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Stone 2017:28559085}" "" "980G>A Arg327Gln CGG>CAG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000733002" "0" "70" "3" "193374932" "193374932" "subst" "0" "00000" "OPA1_000602" "g.193374932C>T" "" "{PMID:Stone 2017:28559085}" "" "Arg748Stop CGA>TGA" "" "Germline" "" "" "0" "" "" "g.193657143C>T" "" "likely pathogenic" ""
"0000733003" "0" "70" "3" "193383306" "193420756" "del" "0" "00000" "OPA1_000600" "g.193383306_193420756del" "" "{PMID:Stone 2017:28559085}" "" "del ex25-31 Chr3:193383306-193420756del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000733004" "0" "70" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Stone 2017:28559085}" "" "del ex8-31" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000733005" "0" "70" "3" "193374922" "193374922" "del" "0" "00000" "OPA1_000601" "g.193374922del" "" "{PMID:Stone 2017:28559085}" "" "2230delA" "" "Germline" "" "" "0" "" "" "g.193657133del" "" "likely pathogenic" ""
"0000733006" "0" "70" "3" "193384084" "193384084" "subst" "0" "00000" "OPA1_000345" "g.193384084G>T" "" "{PMID:Stone 2017:28559085}" "" "IVS27-1 G>T" "" "Germline" "" "" "0" "" "" "g.193666295G>T" "" "likely pathogenic" ""
"0000733007" "0" "70" "3" "193384959" "193384962" "del" "0" "00000" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Stone 2017:28559085}" "" "IVS28-2 del4cAGTT" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "likely pathogenic" ""
"0000733008" "0" "70" "3" "193355853" "193355853" "subst" "0" "00000" "OPA1_000006" "g.193355853A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.193638064A>G" "" "likely pathogenic" ""
"0000734528" "0" "90" "3" "193353231" "193353231" "subst" "0.00000406656" "01807" "OPA1_000121" "g.193353231C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000735635" "0" "90" "3" "193355075" "193355075" "subst" "0" "00000" "OPA1_000028" "g.193355075G>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.193637286G>A" "" "pathogenic" ""
"0000760760" "0" "70" "3" "193361416" "193361416" "subst" "0" "01807" "OPA1_000603" "g.193361416G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000760804" "10" "70" "3" "193332539" "193332540" "del" "0" "04026" "OPA1_000604" "g.193332539_193332540del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.193614750_193614751del" "" "pathogenic (dominant)" "ACMG"
"0000760805" "3" "50" "3" "193333467" "193333467" "subst" "0" "04026" "OPA1_000605" "g.193333467T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193615678T>C" "" "VUS" "ACMG"
"0000760813" "0" "70" "3" "193332591" "193332591" "subst" "0" "04026" "OPA1_000236" "g.193332591C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760814" "0" "50" "3" "193333491" "193333491" "subst" "0.0000203117" "04026" "OPA1_000389" "g.193333491C>T" "" "" "" "" "" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000760863" "11" "50" "3" "193354982" "193354982" "subst" "0" "04026" "OPA1_000473" "g.193354982A>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760864" "0" "50" "3" "193355069" "193355069" "subst" "0" "04026" "OPA1_000020" "g.193355069G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000760865" "0" "70" "3" "193355071" "193355071" "subst" "0" "04026" "OPA1_000476" "g.193355071G>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760866" "21" "70" "3" "193355855" "193355855" "subst" "0" "04026" "OPA1_000310" "g.193355855G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760867" "11" "70" "3" "193360553" "193360553" "subst" "0" "04026" "OPA1_000608" "g.193360553G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760868" "11" "50" "3" "193361162" "193361162" "subst" "0" "04026" "OPA1_000482" "g.193361162A>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000760869" "11" "50" "3" "193361193" "193361193" "subst" "0" "04026" "OPA1_000609" "g.193361193T>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000760870" "0" "50" "3" "193361205" "193361205" "subst" "0" "04026" "OPA1_000484" "g.193361205T>G" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000760871" "0" "50" "3" "193361381" "193361381" "subst" "0" "04026" "OPA1_000610" "g.193361381T>A" "" "" "" "" "" "Unknown" "?" "" "" "" "" "" "" "VUS" "ACMG"
"0000760872" "0" "50" "3" "193361393" "193361409" "del" "0" "04026" "OPA1_000611" "g.193361393_193361409del" "" "" "" "" "" "Unknown" "?" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760873" "0" "50" "3" "193380754" "193380754" "subst" "0" "04026" "OPA1_000612" "g.193380754A>C" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760874" "0" "50" "3" "193384116" "193384116" "subst" "0" "04026" "OPA1_000607" "g.193384116G>A" "" "" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000760875" "21" "50" "3" "193409888" "193409888" "del" "0" "04026" "OPA1_000606" "g.193409888del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760876" "11" "70" "3" "193361235" "193361235" "dup" "0" "04026" "OPA1_000354" "g.193361235dup" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760878" "11" "50" "3" "193363569" "193363569" "del" "0" "04026" "OPA1_000499" "g.193363569del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760906" "11" "70" "3" "193384959" "193384962" "del" "0" "04026" "OPA1_000016" "g.193384959_193384962del" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "ACMG"
"0000760907" "0" "50" "3" "193385075" "193385075" "subst" "0" "04026" "OPA1_000080" "g.193385075T>C" "" "" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000765458" "1" "70" "3" "193332754" "193332754" "subst" "0" "00000" "OPA1_000613" "g.193332754G>C" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.193614965G>C" "" "likely pathogenic" ""
"0000765480" "1" "70" "3" "193361336" "193361336" "subst" "0.00000406871" "00000" "OPA1_000614" "g.193361336C>G" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.193643547C>G" "" "likely pathogenic" ""
"0000765992" "1" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Huang 2014:24825108}" "" "1240G>A (V414I)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000765993" "1" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Huang 2014:24825108}" "" "658_660del (Q219_I221del)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000765994" "1" "90" "3" "0" "0" "" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Huang 2014:24825108}" "" "1781G>A (R594Q)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000766074" "1" "99" "3" "193380725" "193380725" "subst" "0" "00091" "OPA1_000207" "g.193380725C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000784067" "0" "90" "3" "193361215" "193361215" "del" "0" "01807" "OPA1_000615" "g.193361215del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.193643426del" "" "pathogenic" ""
"0000785800" "0" "70" "3" "193332529" "193332529" "del" "0" "04076" "OPA1_000616" "g.193332529del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614740del" "" "likely pathogenic (recessive)" "ACMG"
"0000785805" "0" "70" "3" "193332565" "193332565" "del" "0" "04076" "OPA1_000618" "g.193332565del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614776del" "" "likely pathogenic (recessive)" "ACMG"
"0000785806" "0" "70" "3" "193332774" "193332780" "dup" "0" "04076" "OPA1_000619" "g.193332774_193332780dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614985_193614991dup" "" "likely pathogenic (recessive)" "ACMG"
"0000785807" "0" "90" "3" "193333505" "193333505" "del" "0" "04076" "OPA1_000620" "g.193333505del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193615716del" "" "pathogenic (recessive)" "ACMG"
"0000785808" "0" "70" "3" "193336650" "193336655" "del" "0" "04076" "OPA1_000622" "g.193336650_193336655del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193618861_193618866del" "" "likely pathogenic (recessive)" "ACMG"
"0000785809" "0" "50" "3" "193336673" "193336673" "subst" "0.00000812546" "04076" "OPA1_000623" "g.193336673C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193618884C>T" "" "VUS" "ACMG"
"0000785810" "0" "70" "3" "193336687" "193336687" "dup" "0" "04076" "OPA1_000624" "g.193336687dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193618898dup" "" "likely pathogenic (recessive)" "ACMG"
"0000785811" "0" "90" "3" "193355014" "193355014" "subst" "0" "04076" "OPA1_000625" "g.193355014C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637225C>T" "" "pathogenic (recessive)" "ACMG"
"0000785812" "0" "70" "3" "193355038" "193355039" "ins" "0" "04076" "OPA1_000626" "g.193355038_193355039insT" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637249_193637250insT" "" "likely pathogenic (recessive)" "ACMG"
"0000785813" "0" "50" "3" "193355744" "193355744" "subst" "0" "04076" "OPA1_000627" "g.193355744G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PM1, PM2, PP3" "Germline" "" "" "0" "" "" "g.193637955G>T" "" "VUS" "ACMG"
"0000785814" "0" "70" "3" "193355845" "193355845" "del" "0" "04076" "OPA1_000628" "g.193355845del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193638056del" "" "likely pathogenic (recessive)" "ACMG"
"0000785815" "0" "70" "3" "193360558" "193360563" "del" "0" "04076" "OPA1_000629" "g.193360558_193360563del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642769_193642774del" "" "likely pathogenic (recessive)" "ACMG"
"0000785816" "0" "70" "3" "193360561" "193360561" "dup" "0" "04076" "OPA1_000630" "g.193360561dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642772dup" "" "likely pathogenic (recessive)" "ACMG"
"0000785817" "0" "70" "3" "193360640" "193360640" "subst" "0" "04076" "OPA1_000631" "g.193360640T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PM2, PS3" "Germline" "" "" "0" "" "" "g.193642851T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000785818" "0" "70" "3" "193360838" "193360839" "ins" "0" "04076" "OPA1_000632" "g.193360838_193360839insT" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643049_193643050insT" "" "likely pathogenic (recessive)" "ACMG"
"0000785819" "0" "70" "3" "193361175" "193361182" "del" "0" "04076" "OPA1_000633" "g.193361175_193361182del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643386_193643393del" "" "likely pathogenic (recessive)" "ACMG"
"0000785821" "0" "90" "3" "193361234" "193361234" "subst" "0" "04076" "OPA1_000635" "g.193361234G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>C" "" "pathogenic (recessive)" "ACMG"
"0000785822" "0" "70" "3" "193361237" "193361237" "del" "0" "04076" "OPA1_000636" "g.193361237del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PM2, PS3" "Germline" "" "" "0" "" "" "g.193643448del" "" "likely pathogenic (recessive)" "ACMG"
"0000785823" "0" "70" "3" "193361316" "193361316" "subst" "0" "04076" "OPA1_000637" "g.193361316G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643527G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000785824" "0" "70" "3" "193361386" "193361386" "subst" "0" "04076" "OPA1_000638" "g.193361386A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643597A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000785825" "0" "70" "3" "193361811" "193361811" "subst" "0" "04076" "OPA1_000639" "g.193361811C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193644022C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000785826" "0" "70" "3" "193363558" "193363558" "subst" "0" "04076" "OPA1_000640" "g.193363558G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.193645769G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000785827" "0" "90" "3" "193364896" "193364902" "del" "0" "04076" "OPA1_000641" "g.193364896_193364902del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193647107_193647113del" "" "pathogenic (recessive)" "ACMG"
"0000785828" "0" "50" "3" "193365876" "193365876" "subst" "0.00000406418" "04076" "OPA1_000642" "g.193365876G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648087G>A" "" "VUS" "ACMG"
"0000785829" "0" "70" "3" "193365887" "193365887" "subst" "0" "04076" "OPA1_000643" "g.193365887G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648098G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000785830" "0" "90" "3" "193365907" "193365907" "del" "0" "04076" "OPA1_000644" "g.193365907del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648118del" "" "pathogenic (recessive)" "ACMG"
"0000785831" "0" "70" "3" "193365925" "193365925" "subst" "0" "04076" "OPA1_000645" "g.193365925T>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648136T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000785832" "0" "70" "3" "193372667" "193372667" "subst" "0" "04076" "OPA1_000646" "g.193372667C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193654878C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000785833" "0" "90" "3" "193372816" "193372816" "subst" "0" "04076" "OPA1_000647" "g.193372816G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193655027G>C" "" "pathogenic (recessive)" "ACMG"
"0000785834" "0" "70" "3" "193374859" "193374859" "subst" "0" "04076" "OPA1_000649" "g.193374859A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PM2, PS3; effect on splicing from in vitro mini-gene splicing assays" "Germline" "" "" "0" "" "" "g.193657070A>G" "" "likely pathogenic (recessive)" "ACMG"
"0000785835" "0" "70" "3" "193374887" "193374887" "subst" "0" "04076" "OPA1_000650" "g.193374887C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657098C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000785836" "0" "50" "3" "193374958" "193374958" "delins" "0" "04076" "OPA1_000651" "g.193374958delinsTAAG" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657169delinsTAAG" "" "VUS" "ACMG"
"0000785837" "0" "90" "3" "193375005" "193375006" "del" "0" "04076" "OPA1_000652" "g.193375005_193375006del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657216_193657217del" "" "pathogenic (recessive)" "ACMG"
"0000785838" "0" "70" "3" "193376746" "193376749" "del" "0" "04076" "OPA1_000653" "g.193376746_193376749del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658957_193658960del" "" "likely pathogenic (recessive)" "ACMG"
"0000785839" "0" "70" "3" "193376776" "193376776" "subst" "0" "04076" "OPA1_000654" "g.193376776T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658987T>C" "" "likely pathogenic (recessive)" "ACMG"
"0000785840" "0" "70" "3" "193377342" "193377342" "dup" "0" "04076" "OPA1_000655" "g.193377342dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193659553dup" "" "likely pathogenic (recessive)" "ACMG"
"0000785841" "0" "70" "3" "193380603" "193380603" "subst" "0" "04076" "OPA1_000656" "g.193380603T>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PM2, PS3; effect on splicing from in vitro mini-gene splicing assays" "Germline" "" "" "0" "" "" "g.193662814T>G" "" "likely pathogenic (recessive)" "ACMG"
"0000785842" "0" "70" "3" "193382683" "193382683" "subst" "0" "04076" "OPA1_000657" "g.193382683G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664894G>A" "" "likely pathogenic (recessive)" "ACMG"
"0000785843" "0" "70" "3" "193382712" "193382736" "dup" "0" "04076" "OPA1_000658" "g.193382712_193382736dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664923_193664947dup" "" "likely pathogenic (recessive)" "ACMG"
"0000785844" "0" "70" "3" "193382757" "193382757" "dup" "0" "04076" "OPA1_000659" "g.193382757dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664968dup" "" "likely pathogenic (recessive)" "ACMG"
"0000785845" "0" "70" "3" "193384175" "193384175" "subst" "0" "04076" "OPA1_000660" "g.193384175G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193666386G>T" "" "likely pathogenic (recessive)" "ACMG"
"0000785846" "0" "90" "3" "193385046" "193385052" "delins" "0" "04076" "OPA1_000662" "g.193385046_193385052delinsTC" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667257_193667263delinsTC" "" "pathogenic (recessive)" "ACMG"
"0000785847" "0" "70" "3" "193372650" "193372817" "del" "0" "04076" "OPA1_000025" "g.(193366661_193372650)_(193372817_193374868)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex20" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000785848" "0" "70" "3" "0" "0" "" "0" "04076" "OPA1_000617" "g.(193366661_193372650)_(193415600)?del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex20_29" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000785849" "0" "70" "3" "193374868" "193377351" "del" "0" "04076" "OPA1_000648" "g.(193372817_193374868)_(193377351_193380610)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex21-23" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000785850" "0" "90" "3" "193384958" "193385070" "del" "0" "04076" "OPA1_000661" "g.(193384179_193384958)_(193385070_193409851)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex27" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG"
"0000785851" "0" "70" "3" "193334966" "193377351" "del" "0" "04076" "OPA1_000621" "g.(193333560_193334966)_(193377351_193380610)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex4-23" "CMG PVS1, PM2" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000787343" "0" "50" "3" "0" "0" "" "0" "00006" "OPA1_000149" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.860A>G (His287Arg)" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000787620" "1" "97" "3" "193374868" "193374868" "subst" "0" "00091" "OPA1_000156" "g.193374868G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000788064" "1" "70" "3" "193355071" "193355071" "subst" "0" "00091" "OPA1_000476" "g.193355071G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000788065" "1" "70" "3" "193374986" "193374986" "subst" "0" "00091" "OPA1_000110" "g.193374986C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000789675" "1" "70" "3" "193360810" "193360810" "subst" "0" "00091" "OPA1_000663" "g.193360810T>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000789676" "1" "90" "3" "193353231" "193353231" "subst" "0.00000406656" "00091" "OPA1_000121" "g.193353231C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000793780" "0" "70" "3" "193343987" "193343987" "subst" "0" "00000" "OPA1_000597" "g.193343987G>C" "" "{PMID:Zhou-2011:21677794}" "" "c.785G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000793800" "0" "70" "3" "193374903" "193374903" "subst" "0.0000325412" "00000" "OPA1_000409" "g.193374903G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.2213G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000794754" "0" "70" "3" "193364938" "193364940" "dup" "0" "03508" "OPA1_000664" "g.193364938_193364940dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.193647149_193647151dup" "" "VUS" "ACMG"
"0000801117" "0" "50" "3" "193336664" "193336664" "subst" "0.0000690675" "02330" "OPA1_000665" "g.193336664C>T" "" "" "" "OPA1(NM_130837.3):c.617C>T (p.P206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000801118" "0" "70" "3" "193363415" "193363415" "del" "0" "02330" "OPA1_000666" "g.193363415del" "" "" "" "OPA1(NM_130837.3):c.1681delG (p.N562Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000801119" "0" "70" "3" "193365923" "193365923" "subst" "0" "02327" "OPA1_000157" "g.193365923G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000801120" "0" "90" "3" "193366596" "193366596" "dup" "0" "01943" "OPA1_000573" "g.193366596dup" "" "" "" "OPA1(NM_130837.2):c.1948dupG (p.E650Gfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000801121" "0" "50" "3" "193380621" "193380621" "subst" "0.000040708" "02330" "OPA1_000667" "g.193380621A>G" "" "" "" "OPA1(NM_130837.3):c.2531A>G (p.N844S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000801122" "0" "50" "3" "193385012" "193385012" "subst" "0.00000406081" "01943" "OPA1_000668" "g.193385012G>T" "" "" "" "OPA1(NM_130837.2):c.2926G>T (p.G976C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000812510" "0" "70" "3" "193380751" "193380751" "subst" "0" "00000" "OPA1_000526" "g.193380751G>A" "" "{PMID:Wang 2019:31106028}" "" "c.2661G>A, p.Leu887=" "heterozygous" "Germline" "yes" "" "0" "" "" "g.193662962G>A" "" "likely pathogenic" ""
"0000812529" "0" "70" "3" "193363363" "193363363" "subst" "0.00000814253" "00000" "OPA1_000670" "g.193363363A>G" "" "{PMID:Wang 2019:31106028}" "" "c.1630A>G, p.(Lys544Glu)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.193645574A>G" "" "likely pathogenic" ""
"0000812552" "0" "70" "3" "193361764" "193361764" "subst" "0" "00000" "OPA1_000150" "g.193361764A>G" "" "{PMID:Wang 2019:31106028}" "" "c.1478A>G, p.(Asp493Gly)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.193643975A>G" "" "likely pathogenic" ""
"0000812557" "0" "70" "3" "193360767" "193360767" "subst" "0.0000284852" "00000" "OPA1_000220" "g.193360767G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1234G>A, p.(Ala412Thr)" "heterozygous" "Germline" "?" "" "0" "" "" "g.193642978G>A" "" "likely pathogenic" ""
"0000812566" "0" "90" "3" "193363563" "193363563" "del" "0" "00000" "OPA1_000671" "g.193363563del" "" "{PMID:Wang 2019:31106028}" "" "c.1728del, p.(Glu576Aspfs*9)" "heterozygous" "Germline" "?" "" "0" "" "" "g.193645774del" "" "pathogenic" ""
"0000812573" "0" "70" "3" "193361193" "193361193" "subst" "0" "00000" "OPA1_000609" "g.193361193T>G" "" "{PMID:Wang 2019:31106028}" "" "c.1337T>G, p.(Leu446Arg)" "heterozygous" "Germline" "?" "" "0" "" "" "g.193643404T>G" "" "likely pathogenic" ""
"0000812590" "0" "70" "3" "193336666" "193336666" "subst" "0.0000853104" "00000" "OPA1_000669" "g.193336666G>A" "" "{PMID:Wang 2019:31106028}" "" "c.619G>A, p.(Glu207Lys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.193618877G>A" "" "likely pathogenic" ""
"0000812632" "0" "90" "3" "193355071" "193355071" "subst" "0" "00000" "OPA1_000476" "g.193355071G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1035+1G>A, p.?" "heterozygous" "De novo" "yes" "" "0" "" "" "g.193637282G>A" "" "pathogenic" ""
"0000812683" "0" "90" "3" "193355855" "193355855" "subst" "0" "00000" "OPA1_000310" "g.193355855G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1149+1G>A, p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.193638066G>A" "" "pathogenic" ""
"0000812684" "0" "90" "3" "193355855" "193355855" "subst" "0" "00000" "OPA1_000310" "g.193355855G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1149+1G>A, p.?" "heterozygous" "Germline" "?" "" "0" "" "" "g.193638066G>A" "" "pathogenic" ""
"0000812767" "0" "70" "3" "193377349" "193377349" "subst" "0" "00000" "OPA1_000101" "g.193377349A>G" "" "{PMID:Wang 2019:31106028}" "" "c.2519A>G, p.(Gln840Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.193659560A>G" "" "likely pathogenic" ""
"0000812768" "0" "70" "3" "193355069" "193355069" "subst" "0" "00000" "OPA1_000020" "g.193355069G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1034G>A, p.(Arg345Gln)" "heterozygous" "Germline" "?" "" "0" "" "" "g.193637280G>A" "" "likely pathogenic" ""
"0000812787" "0" "70" "3" "193355069" "193355069" "subst" "0" "00000" "OPA1_000020" "g.193355069G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1034G>A, p.(Arg345Gln)" "heterozygous" "Germline" "?" "" "0" "" "" "g.193637280G>A" "" "likely pathogenic" ""
"0000816580" "0" "90" "3" "193385048" "193385048" "subst" "0" "00006" "OPA1_000460" "g.193385048G>T" "" "{PMID:Mauro-Herrera 2021:34209753}" "" "" "in vitro splicing assay shows exon skipping, intron retention, and normal splicing" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000817702" "0" "70" "3" "193311169" "193311169" "subst" "0" "00000" "OPA1_000348" "g.193311169G>A" "" "{PMID:Zanolli 2020:32141364}" "" "OPA1 c.3G>A" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.193593380G>A" "" "likely pathogenic" ""
"0000819085" "0" "70" "3" "193366661" "193366661" "subst" "0" "00000" "OPA1_000195" "g.193366661G>T" "" "{PMID:Dineiro 2020:32483926}" "" "OPA1 c.1847 + 1G" "heterozygous, different trnascript: NM_015560.2(OPA1):c.1847+1G>T" "Germline" "?" "" "1" "" "" "g.193648872G>T" "" "likely pathogenic" "ACMG"
"0000821318" "0" "70" "3" "193361238" "193361238" "subst" "0" "00000" "OPA1_000353" "g.193361238G>A" "" "{PMID:Turro 2020:32581362}" "" "OPA1 c.1323+5G>A," "heterozygous, different transcript:NM_130836.2(OPA1):c.1323+5G>A" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193643449G>A" "" "likely pathogenic" ""
"0000821319" "0" "70" "3" "193361233" "193361237" "del" "0" "00000" "OPA1_000125" "g.193361233_193361237del" "" "{PMID:Turro 2020:32581362}" "" "OPA1 c.1323_1323+4delTGTAA," "heterozygous, different transcript:NM_130836.2(OPA1):c.1323_1323+4delTGTAA" "Germline/De novo (untested)" "?" "" "0" "" "" "g.193643444_193643448del" "" "likely pathogenic" ""
"0000822099" "0" "70" "3" "193372747" "193372747" "subst" "0.0000365913" "00000" "OPA1_000408" "g.193372747T>C" "" "{PMID:Booij-2011:20801516}" "" "c.2109T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822100" "0" "70" "3" "193332522" "193332522" "subst" "0.00648103" "00000" "OPA1_000318" "g.193332522C>A" "" "{PMID:Booij-2011:20801516}" "" "c.43C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822101" "0" "70" "3" "193336670" "193336670" "subst" "0" "00000" "OPA1_000673" "g.193336670A>G" "" "{PMID:Booij-2011:20801516}" "" "c.623A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822102" "0" "70" "3" "193332627" "193332627" "subst" "0" "00000" "OPA1_000672" "g.193332627A>G" "" "{PMID:Booij-2011:20801516}" "" "c.148A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822103" "3" "70" "3" "0" "0" "subst" "0" "00000" "OPA1_000149" "g.?" "" "{PMID:Booij-2011:20801516}" "" "c.1035 4T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822104" "0" "70" "3" "193355018" "193355022" "del" "0" "00000" "OPA1_000674" "g.193355018_193355022del" "" "{PMID:Booij-2011:20801516}" "" "c.983_984+3delAGGTA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822390" "0" "70" "3" "193365878" "193365879" "del" "0" "00000" "OPA1_000675" "g.193365878_193365879del" "" "{PMID:Maggi_2021:33546218}" "" "c.1890_1891del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822396" "0" "70" "3" "193409855" "193409855" "subst" "0" "00000" "OPA1_000676" "g.193409855A>C" "" "{PMID:Maggi_2021:33546218}" "" "c.2987A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000822452" "0" "70" "3" "193384959" "193384962" "del" "0" "00000" "OPA1_000016" "g.193384959_193384962del" "" "{PMID:Maggi_2021:33546218}" "" "c.2873_2876del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000827009" "0" "90" "3" "193376678" "193376678" "subst" "0" "00000" "OPA1_000677" "g.193376678G>A" "" "{PMID:Thorsteinsson 2021:33851411}" "" "OPA1 c.2334G>A, p.Trp778*" "different transcript, NM_130836.2(OPA1):c.2334G>A, p.(Arg778*), heterozygous" "Unknown" "?" "" "0" "" "" "g.193658889G>A" "" "pathogenic" ""
"0000829794" "0" "70" "3" "193332532" "193332541" "del" "0" "00000" "OPA1_000678" "g.193332532_193332541del" "" "{PMID:Dockery 2017:29099798}" "" "OPA1 c.53_62delTGAAACACAG, p.Val18fs" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.193614743_193614752del" "" "likely pathogenic" ""
"0000841400" "1" "90" "3" "193311169" "193311169" "subst" "0" "00091" "OPA1_000328" "g.193311169G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841401" "1" "90" "3" "193384959" "193384962" "del" "0" "00091" "OPA1_000016" "g.193384959_193384962del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841402" "1" "90" "3" "193361784" "193361784" "subst" "0" "00091" "OPA1_000679" "g.193361784C>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841403" "1" "90" "3" "193364970" "193364970" "subst" "0" "00091" "OPA1_000680" "g.193364970G>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841404" "1" "90" "3" "193332591" "193332591" "subst" "0" "00091" "OPA1_000236" "g.193332591C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841405" "1" "90" "3" "193332570" "193332570" "subst" "0" "00091" "OPA1_000438" "g.193332570C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000841410" "1" "90" "3" "193366587" "193366587" "del" "0" "00091" "OPA1_000508" "g.193366587del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841411" "1" "90" "3" "193384959" "193384962" "del" "0" "00091" "OPA1_000016" "g.193384959_193384962del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841412" "1" "90" "3" "193355746" "193355748" "del" "0" "00091" "OPA1_000261" "g.193355746_193355748del" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000841417" "1" "90" "3" "193353231" "193353231" "subst" "0.00000406656" "00091" "OPA1_000121" "g.193353231C>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000850206" "0" "50" "3" "193353223" "193353223" "subst" "0" "01943" "OPA1_000681" "g.193353223T>C" "" "" "" "OPA1(NM_130837.2):c.860T>C (p.I287T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850207" "0" "50" "3" "193380707" "193380707" "subst" "0.000044726" "01943" "OPA1_000683" "g.193380707C>T" "" "" "" "OPA1(NM_130837.2):c.2617C>T (p.R873W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000858925" "0" "50" "3" "193361821" "193361821" "subst" "0" "02330" "OPA1_000682" "g.193361821C>T" "" "" "" "OPA1(NM_130837.3):c.1535C>T (p.P512L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000858926" "0" "10" "3" "193386239" "193386239" "subst" "0" "02326" "OPA1_000684" "g.193386239C>T" "" "" "" "OPA1(NM_130837.2):c.2983+1170C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000871046" "11" "90" "3" "193377292" "193377292" "dup" "0" "03508" "OPA1_000687" "g.193377292dup" "" "" "" "2297dupT" "" "Germline" "" "" "0" "" "" "g.193659503dup" "" "pathogenic" "ACMG"
"0000871047" "21" "90" "3" "193354995" "193354998" "del" "0" "03508" "OPA1_000686" "g.193354995_193354998del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.193637206_193637209del" "" "pathogenic" "ACMG"
"0000871048" "11" "90" "3" "193354984" "193354984" "subst" "0" "03508" "OPA1_000685" "g.193354984A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000874177" "0" "50" "3" "193361201" "193361201" "subst" "0.00000813015" "00006" "OPA1_000634" "g.193361201A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "ACMG PP3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000874178" "1" "90" "3" "193355068" "193355068" "subst" "0.00000815468" "00006" "OPA1_000091" "g.193355068C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637279C>T" "" "pathogenic (dominant)" ""
"0000874179" "0" "90" "3" "193355807" "193355808" "delins" "0" "00006" "OPA1_000249" "g.193355807_193355808delinsGA" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193638018_193638019delinsGA" "" "pathogenic (dominant)" ""
"0000874180" "0" "90" "3" "193311172" "193311172" "subst" "0" "00006" "OPA1_000087" "g.193311172G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193593383G>A" "" "pathogenic (dominant)" ""
"0000874181" "0" "90" "3" "193332591" "193332591" "subst" "0" "00006" "OPA1_000236" "g.193332591C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614802C>T" "" "pathogenic (dominant)" ""
"0000874182" "0" "90" "3" "193332633" "193332633" "subst" "0" "00006" "OPA1_000166" "g.193332633C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614844C>T" "" "pathogenic (dominant)" ""
"0000874183" "0" "90" "3" "193332633" "193332633" "subst" "0" "00006" "OPA1_000166" "g.193332633C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614844C>T" "" "pathogenic (dominant)" ""
"0000874184" "0" "90" "3" "193332633" "193332633" "subst" "0" "00006" "OPA1_000166" "g.193332633C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614844C>T" "" "pathogenic (dominant)" ""
"0000874185" "0" "90" "3" "193332633" "193332633" "subst" "0" "00006" "OPA1_000166" "g.193332633C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193614844C>T" "" "pathogenic (dominant)" ""
"0000874186" "0" "90" "3" "193335990" "193335990" "subst" "0" "00006" "OPA1_000282" "g.193335990G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193618201G>A" "" "pathogenic (dominant)" ""
"0000874187" "0" "90" "3" "193335986" "193335986" "subst" "0" "00006" "OPA1_000283" "g.193335986G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193618197G>A" "" "pathogenic (dominant)" ""
"0000874188" "0" "90" "3" "193349405" "193349405" "subst" "0" "00006" "OPA1_000088" "g.193349405C>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631616C>A" "" "pathogenic (dominant)" ""
"0000874189" "0" "90" "3" "193349407" "193349410" "del" "0" "00006" "OPA1_000248" "g.193349407_193349410del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631618_193631621del" "" "pathogenic (dominant)" ""
"0000874190" "0" "90" "3" "193349411" "193349412" "del" "0" "00006" "OPA1_000026" "g.193349411_193349412del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic (dominant)" ""
"0000874191" "0" "90" "3" "193349411" "193349412" "del" "0" "00006" "OPA1_000026" "g.193349411_193349412del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic (dominant)" ""
"0000874192" "0" "90" "3" "193349411" "193349412" "del" "0" "00006" "OPA1_000026" "g.193349411_193349412del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic (dominant)" ""
"0000874193" "0" "90" "3" "193349411" "193349412" "del" "0" "00006" "OPA1_000026" "g.193349411_193349412del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic (dominant)" ""
"0000874194" "0" "90" "3" "193349411" "193349412" "del" "0" "00006" "OPA1_000026" "g.193349411_193349412del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631622_193631623del" "" "pathogenic (dominant)" ""
"0000874195" "0" "90" "3" "193349415" "193349416" "del" "0" "00006" "OPA1_000263" "g.193349415_193349416del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631626_193631627del" "" "pathogenic (dominant)" ""
"0000874196" "0" "90" "3" "193349431" "193349431" "subst" "0" "00006" "OPA1_000692" "g.193349431C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193631642C>T" "" "pathogenic (dominant)" ""
"0000874197" "0" "90" "3" "193353231" "193353231" "subst" "0.00000406656" "00006" "OPA1_000121" "g.193353231C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193635442C>T" "" "pathogenic (dominant)" ""
"0000874198" "0" "90" "3" "193354983" "193354983" "subst" "0" "00006" "OPA1_000173" "g.193354983G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637194G>A" "" "pathogenic (dominant)" ""
"0000874199" "0" "90" "3" "193354982" "193354982" "subst" "0" "00006" "OPA1_000361" "g.193354982A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637193A>G" "" "pathogenic (dominant)" ""
"0000874200" "0" "90" "3" "193355015" "193355015" "subst" "0" "00006" "OPA1_000003" "g.193355015T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637226T>C" "" "pathogenic (dominant)" ""
"0000874201" "0" "90" "3" "193355018" "193355018" "subst" "0" "00006" "OPA1_000090" "g.193355018A>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637229A>C" "" "pathogenic (dominant)" ""
"0000874202" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874203" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874204" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874205" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874206" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874207" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874208" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874209" "0" "90" "3" "193355069" "193355069" "subst" "0" "00006" "OPA1_000020" "g.193355069G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" ""
"0000874210" "0" "90" "3" "193355071" "193355071" "del" "0" "00006" "OPA1_000475" "g.193355071del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637282del" "" "pathogenic (dominant)" ""
"0000874211" "0" "90" "3" "193355071" "193355071" "subst" "0" "00006" "OPA1_000476" "g.193355071G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637282G>A" "" "pathogenic (dominant)" ""
"0000874212" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874213" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874214" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874215" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874216" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874217" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874218" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874219" "0" "90" "3" "193355075" "193355075" "subst" "0" "00006" "OPA1_000028" "g.193355075G>A" "8/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637286G>A" "" "pathogenic (dominant)" ""
"0000874220" "0" "90" "3" "193355765" "193355765" "subst" "0" "00006" "OPA1_000376" "g.193355765G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637976G>C" "" "pathogenic (dominant)" ""
"0000874221" "0" "90" "3" "193355802" "193355802" "del" "0" "00006" "OPA1_000093" "g.193355802del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193638013del" "" "pathogenic (dominant)" ""
"0000874222" "0" "90" "3" "193355856" "193355856" "subst" "0" "00006" "OPA1_000694" "g.193355856T>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193638067T>A" "" "pathogenic (dominant)" ""
"0000874223" "0" "90" "3" "193355857" "193355857" "subst" "0" "00006" "OPA1_000077" "g.193355857A>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193638068A>T" "" "pathogenic (dominant)" ""
"0000874224" "0" "90" "3" "193360561" "193360561" "subst" "0" "00006" "OPA1_000695" "g.193360561T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642772T>C" "" "pathogenic (dominant)" ""
"0000874225" "0" "90" "3" "193360635" "193360635" "subst" "0" "00006" "OPA1_000696" "g.193360635G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642846G>A" "" "pathogenic (dominant)" ""
"0000874226" "0" "90" "3" "193360637" "193360637" "subst" "0" "00006" "OPA1_000094" "g.193360637A>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642848A>C" "" "pathogenic (dominant)" ""
"0000874227" "0" "90" "3" "193360639" "193360639" "subst" "0" "00006" "OPA1_000392" "g.193360639G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642850G>A" "" "pathogenic (dominant)" ""
"0000874228" "0" "90" "3" "193360770" "193360791" "del" "0" "00006" "OPA1_000095" "g.193360770_193360791del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193642981_193643002del" "" "pathogenic (dominant)" ""
"0000874229" "0" "90" "3" "193360794" "193360794" "subst" "0" "00006" "OPA1_000001" "g.193360794C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643005C>T" "" "pathogenic (dominant)" ""
"0000874230" "0" "90" "3" "193360794" "193360794" "subst" "0" "00006" "OPA1_000001" "g.193360794C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643005C>T" "" "pathogenic (dominant)" ""
"0000874231" "0" "90" "3" "193360794" "193360794" "subst" "0" "00006" "OPA1_000001" "g.193360794C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643005C>T" "" "pathogenic (dominant)" ""
"0000874232" "0" "90" "3" "193360794" "193360794" "subst" "0" "00006" "OPA1_000001" "g.193360794C>T" "4/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643005C>T" "" "pathogenic (dominant)" ""
"0000874233" "0" "90" "3" "193360838" "193360838" "subst" "0" "00006" "OPA1_000151" "g.193360838G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643049G>A" "" "pathogenic (dominant)" ""
"0000874234" "0" "90" "3" "193360839" "193360839" "dup" "0" "00006" "OPA1_000697" "g.193360839dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643050dup" "" "pathogenic (dominant)" ""
"0000874235" "0" "90" "3" "193360843" "193360843" "subst" "0" "00006" "OPA1_000172" "g.193360843G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643054G>C" "" "pathogenic (dominant)" ""
"0000874236" "0" "90" "3" "193361861" "193361898" "del" "0" "00006" "OPA1_000251" "g.193361861_193361898del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193644072_193644109del" "" "pathogenic (dominant)" ""
"0000874237" "0" "70" "3" "193361167" "193361167" "subst" "0.000634322" "00006" "OPA1_000174" "g.193361167A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "hypomorphic allele" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "VUS (!)" ""
"0000874238" "0" "90" "3" "193361174" "193361175" "del" "0" "00006" "OPA1_000096" "g.193361174_193361175del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643385_193643386del" "" "pathogenic (dominant)" ""
"0000874239" "0" "90" "3" "193361219" "193361219" "subst" "0" "00006" "OPA1_000265" "g.193361219C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643430C>T" "" "pathogenic (dominant)" ""
"0000874240" "0" "90" "3" "193361220" "193361220" "subst" "0" "00006" "OPA1_000486" "g.193361220C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643431C>T" "" "pathogenic (dominant)" ""
"0000874241" "0" "90" "3" "193361233" "193361237" "del" "0" "00006" "OPA1_000125" "g.193361233_193361237del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643444_193643448del" "" "pathogenic (dominant)" ""
"0000874242" "0" "90" "3" "193361234" "193361234" "subst" "0" "00006" "OPA1_000079" "g.193361234G>A" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>A" "" "pathogenic (dominant)" ""
"0000874243" "0" "90" "3" "193361234" "193361234" "subst" "0" "00006" "OPA1_000079" "g.193361234G>A" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>A" "" "pathogenic (dominant)" ""
"0000874244" "0" "90" "3" "193361234" "193361234" "subst" "0" "00006" "OPA1_000079" "g.193361234G>A" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>A" "" "pathogenic (dominant)" ""
"0000874245" "0" "90" "3" "193361234" "193361234" "subst" "0" "00006" "OPA1_000079" "g.193361234G>A" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>A" "" "pathogenic (dominant)" ""
"0000874246" "0" "90" "3" "193361234" "193361234" "subst" "0" "00006" "OPA1_000079" "g.193361234G>A" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>A" "" "pathogenic (dominant)" ""
"0000874247" "0" "90" "3" "193361234" "193361234" "subst" "0" "00006" "OPA1_000112" "g.193361234G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643445G>T" "" "pathogenic (dominant)" ""
"0000874248" "0" "90" "3" "193361238" "193361238" "subst" "0" "00006" "OPA1_000176" "g.193361238G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643449G>C" "" "pathogenic (dominant)" ""
"0000874249" "0" "90" "3" "193361315" "193361315" "subst" "0" "00006" "OPA1_000177" "g.193361315A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643526A>G" "" "pathogenic (dominant)" ""
"0000874250" "0" "90" "3" "193361383" "193361383" "subst" "0" "00006" "OPA1_000698" "g.193361383C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643594C>T" "" "pathogenic (dominant)" ""
"0000874251" "0" "90" "3" "193361400" "193361402" "del" "0" "00006" "OPA1_000022" "g.193361400_193361402del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643611_193643613del" "" "pathogenic (dominant)" ""
"0000874252" "0" "90" "3" "193361405" "193361405" "subst" "0" "00006" "OPA1_000443" "g.193361405T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643616T>C" "" "pathogenic (dominant)" ""
"0000874253" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000150" "g.193361764A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>G" "" "pathogenic (dominant)" ""
"0000874254" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000097" "g.193361764A>T" "6/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic (dominant)" ""
"0000874255" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000097" "g.193361764A>T" "6/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic (dominant)" ""
"0000874256" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000097" "g.193361764A>T" "6/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic (dominant)" ""
"0000874257" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000097" "g.193361764A>T" "6/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic (dominant)" ""
"0000874258" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000097" "g.193361764A>T" "6/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic (dominant)" ""
"0000874259" "0" "90" "3" "193361764" "193361764" "subst" "0" "00006" "OPA1_000097" "g.193361764A>T" "6/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643975A>T" "" "pathogenic (dominant)" ""
"0000874260" "0" "90" "3" "193361785" "193361785" "subst" "0" "00006" "OPA1_000104" "g.193361785G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643996G>A" "" "pathogenic (dominant)" ""
"0000874261" "0" "90" "3" "193361797" "193361797" "dup" "0" "00006" "OPA1_000699" "g.193361797dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193644008dup" "" "pathogenic (dominant)" ""
"0000874262" "0" "90" "3" "193361805" "193361805" "del" "0" "00006" "OPA1_000023" "g.193361805del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193644016del" "" "pathogenic (dominant)" ""
"0000874263" "0" "90" "3" "193361853" "193361853" "subst" "0" "00006" "OPA1_000098" "g.193361853A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193644064A>G" "" "pathogenic (dominant)" ""
"0000874264" "0" "90" "3" "193363379" "193363392" "del" "0" "00006" "OPA1_000700" "g.193363379_193363392del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193645590_193645603del" "" "pathogenic (dominant)" ""
"0000874265" "0" "90" "3" "193363415" "193363415" "subst" "0" "00006" "OPA1_000701" "g.193363415G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193645626G>A" "" "pathogenic (dominant)" ""
"0000874266" "0" "90" "3" "193363415" "193363415" "subst" "0" "00006" "OPA1_000702" "g.193363415G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193645626G>C" "" "pathogenic (dominant)" ""
"0000874267" "0" "90" "3" "193363417" "193363417" "subst" "0" "00006" "OPA1_000582" "g.193363417A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193645628A>G" "" "pathogenic (dominant)" ""
"0000874268" "0" "90" "3" "193363560" "193363562" "del" "0" "00006" "OPA1_000188" "g.193363560_193363562del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193645771_193645773del" "" "pathogenic (dominant)" ""
"0000874269" "0" "90" "3" "193364909" "193364909" "dup" "0" "00006" "OPA1_000024" "g.193364909dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193647120dup" "" "pathogenic (dominant)" ""
"0000874270" "0" "90" "3" "193364916" "193364918" "del" "0" "00006" "OPA1_000099" "g.193364916_193364918del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193647127_193647129del" "" "pathogenic (dominant)" ""
"0000874271" "0" "90" "3" "193364951" "193364951" "subst" "0" "00006" "OPA1_000297" "g.193364951C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193647162C>T" "" "pathogenic (dominant)" ""
"0000874272" "0" "90" "3" "193364970" "193364970" "subst" "0" "00006" "OPA1_000154" "g.193364970G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193647181G>T" "" "pathogenic (dominant)" ""
"0000874273" "0" "90" "3" "193366582" "193366582" "subst" "0.00000406802" "00006" "OPA1_000217" "g.193366582A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648793A>G" "" "pathogenic (dominant)" ""
"0000874274" "0" "90" "3" "193366591" "193366591" "subst" "0" "00006" "OPA1_000245" "g.193366591T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648802T>C" "" "pathogenic (dominant)" ""
"0000874275" "0" "90" "3" "193366664" "193366667" "del" "0" "00006" "OPA1_000240" "g.193366664_193366667del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193648875_193648878del" "" "pathogenic (dominant)" ""
"0000874276" "0" "90" "3" "193372682" "193372682" "subst" "0" "00006" "OPA1_000197" "g.193372682A>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193654893A>T" "" "pathogenic (dominant)" ""
"0000874277" "0" "90" "3" "193372684" "193372685" "del" "0" "00006" "OPA1_000013" "g.193372684_193372685del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193654895_193654896del" "" "pathogenic (dominant)" ""
"0000874278" "0" "90" "3" "193372695" "193372696" "del" "0" "00006" "OPA1_000200" "g.193372695_193372696del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193654906_193654907del" "" "pathogenic (dominant)" ""
"0000874279" "0" "90" "3" "193372816" "193372816" "subst" "0" "00006" "OPA1_000155" "g.193372816G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193655027G>A" "" "pathogenic (dominant)" ""
"0000874280" "0" "90" "3" "193374868" "193374868" "subst" "0" "00006" "OPA1_000156" "g.193374868G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657079G>A" "" "pathogenic (dominant)" ""
"0000874281" "0" "90" "3" "193374974" "193374974" "subst" "0" "00006" "OPA1_000703" "g.193374974G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657185G>T" "" "pathogenic (dominant)" ""
"0000874282" "0" "90" "3" "193374980" "193374993" "delins" "0" "00006" "OPA1_000100" "g.193374980_193374993delinsGGATCGACACAC" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "c.2125_2138del14ins12" "" "Germline" "" "" "0" "" "" "g.193657191_193657204delinsGGATCGACACAC" "" "pathogenic (dominant)" ""
"0000874283" "0" "90" "3" "193374986" "193374986" "subst" "0" "00006" "OPA1_000110" "g.193374986C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657197C>T" "" "pathogenic (dominant)" ""
"0000874284" "0" "90" "3" "193374997" "193374997" "subst" "0" "00006" "OPA1_000704" "g.193374997G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193657208G>A" "" "pathogenic (dominant)" ""
"0000874285" "0" "90" "3" "193376706" "193376706" "subst" "0" "00006" "OPA1_000204" "g.193376706C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658917C>T" "" "pathogenic (dominant)" ""
"0000874286" "0" "90" "3" "193376750" "193376750" "del" "0" "00006" "OPA1_000579" "g.193376750del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658961del" "" "pathogenic (dominant)" ""
"0000874287" "0" "90" "3" "193376750" "193376750" "del" "0" "00006" "OPA1_000579" "g.193376750del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658961del" "" "pathogenic (dominant)" ""
"0000874288" "0" "90" "3" "193376750" "193376750" "del" "0" "00006" "OPA1_000579" "g.193376750del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658961del" "" "pathogenic (dominant)" ""
"0000874289" "0" "90" "3" "193376750" "193376750" "del" "0" "00006" "OPA1_000579" "g.193376750del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658961del" "" "pathogenic (dominant)" ""
"0000874290" "0" "90" "3" "193376750" "193376750" "del" "0" "00006" "OPA1_000579" "g.193376750del" "5/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193658961del" "" "pathogenic (dominant)" ""
"0000874291" "0" "90" "3" "193377349" "193377349" "subst" "0" "00006" "OPA1_000101" "g.193377349A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193659560A>G" "" "pathogenic (dominant)" ""
"0000874292" "0" "90" "3" "193377351" "193377351" "subst" "0" "00006" "OPA1_000242" "g.193377351G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193659562G>A" "" "pathogenic (dominant)" ""
"0000874293" "0" "90" "3" "193380651" "193380651" "subst" "0" "00006" "OPA1_000705" "g.193380651T>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193662862T>A" "" "pathogenic (dominant)" ""
"0000874294" "0" "90" "3" "193380725" "193380725" "subst" "0" "00006" "OPA1_000207" "g.193380725C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193662936C>T" "" "pathogenic (dominant)" ""
"0000874295" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874296" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874297" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874298" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874299" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874300" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874301" "0" "90" "3" "193382741" "193382741" "subst" "0" "00006" "OPA1_000230" "g.193382741C>T" "7/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664952C>T" "" "pathogenic (dominant)" ""
"0000874302" "0" "90" "3" "193382758" "193382759" "ins" "0" "00006" "OPA1_000706" "g.193382758_193382759insA" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664969_193664970insA" "" "pathogenic (dominant)" ""
"0000874303" "0" "90" "3" "193382786" "193382786" "subst" "0" "00006" "OPA1_000102" "g.193382786G>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193664997G>C" "" "pathogenic (dominant)" ""
"0000874304" "0" "90" "3" "193384084" "193384084" "subst" "0" "00006" "OPA1_000231" "g.193384084G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193666295G>A" "" "pathogenic (dominant)" ""
"0000874305" "0" "90" "3" "193384076" "193384076" "subst" "0" "00006" "OPA1_000152" "g.193384076A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193666287A>G" "" "pathogenic (dominant)" ""
"0000874306" "0" "90" "3" "193384180" "193384180" "subst" "0" "00006" "OPA1_000103" "g.193384180T>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193666391T>C" "" "pathogenic (dominant)" ""
"0000874307" "0" "90" "3" "193384958" "193384958" "subst" "0" "00006" "OPA1_000153" "g.193384958G>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667169G>T" "" "pathogenic (dominant)" ""
"0000874308" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874309" "0" "90" "3" "193384964" "193384964" "subst" "0" "00006" "OPA1_000037" "g.193384964C>T" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667175C>T" "" "pathogenic (dominant)" ""
"0000874310" "0" "90" "3" "193384980" "193384980" "subst" "0" "00006" "OPA1_000707" "g.193384980T>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667191T>A" "" "pathogenic (dominant)" ""
"0000874311" "0" "90" "3" "193385041" "193385049" "delins" "0" "00006" "OPA1_000708" "g.193385041_193385049delinsAAAACACCG" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "c.2790_2798delins9" "" "Germline" "" "" "0" "" "" "g.193667252_193667260delinsAAAACACCG" "" "pathogenic (dominant)" ""
"0000874312" "0" "90" "3" "193385048" "193385048" "subst" "0.00000406098" "00006" "OPA1_000709" "g.193385048G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667259G>A" "" "pathogenic (dominant)" ""
"0000874313" "0" "90" "3" "193385066" "193385066" "del" "0" "00006" "OPA1_000710" "g.193385066del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667277del" "" "pathogenic (dominant)" ""
"0000874314" "0" "90" "3" "193385070" "193385070" "subst" "0" "00006" "OPA1_000536" "g.193385070G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667281G>A" "" "pathogenic (dominant)" ""
"0000874315" "0" "90" "3" "193385074" "193385074" "subst" "0" "00006" "OPA1_000262" "g.193385074G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667285G>A" "" "pathogenic (dominant)" ""
"0000874316" "0" "90" "3" "193409850" "193409850" "subst" "0.00000539753" "00006" "OPA1_000711" "g.193409850A>C" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193692061A>C" "" "pathogenic (dominant)" ""
"0000874317" "0" "90" "3" "193409858" "193409861" "del" "0" "00006" "OPA1_000040" "g.193409858_193409861del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193692069_193692072del" "" "pathogenic (dominant)" ""
"0000874318" "0" "90" "3" "193409877" "193409877" "dup" "0" "00006" "OPA1_000451" "g.193409877dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193692088dup" "" "pathogenic (dominant)" ""
"0000874319" "0" "90" "3" "193310511" "193310604" ";" "0" "00006" "OPA1_000688" "g.[193310511_193310604del;193310605_193311541inv;193311826_193312932del]" "" "{PMID:Weisschuh 2020:33243194}, {PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "g.193310511_193312933delins193310603_193311825[193310603_193310540inv]" "2.4 kb structural variant comprising a 937bp inversion of exon 1 and two flanking deletions" "Germline/De novo (untested)" "" "" "0" "" "inversion ex1" "g.[193592722_193592815del;193592816_193593752inv;193594037_193595143del]" "" "pathogenic (dominant)" ""
"0000874320" "0" "90" "3" "193310933" "193385070" "del" "0" "00006" "OPA1_000268" "g.(?_193310933)_(193385070_193409851)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex1-27" "" "Germline" "" "" "0" "" "" "g.(?_193593144)_(193667281_193692062)del" "" "pathogenic (dominant)" ""
"0000874321" "0" "90" "3" "193310933" "193336726" "del" "0" "00006" "OPA1_000690" "g.(?_193310933)_(193336726_193349400)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex1-5" "" "Germline" "" "" "0" "" "" "g.(?_193593144)_(193618937_193631611)del" "" "pathogenic (dominant)" ""
"0000874322" "0" "90" "3" "193355579" "193358765" "delins" "0" "00006" "OPA1_000271" "g.193355579_193358765delinsGTGATTGATGCA" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex9" "" "Germline" "" "" "0" "" "" "g.193637790_193640976delinsGTGATTGATGCA" "" "pathogenic (dominant)" ""
"0000874323" "0" "90" "3" "193380025" "193382053" "del" "0" "00006" "OPA1_000267" "g.193380025_193382053del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex24" "" "Germline" "" "" "0" "" "" "g.193662236_193664264del" "" "pathogenic (dominant)" ""
"0000874324" "0" "90" "3" "" "" "" "" "00006" "OPA1_000689" "g.(193380752_193382668)_193384179_193384958()del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del ex25-26" "" "Germline" "" "" "0" "" "" "g.(193662963_193664879)_(193666390_193667169)del" "" "pathogenic (dominant)" ""
"0000874325" "0" "90" "3" "193350129" "193357881" "dup" "0" "00006" "OPA1_000693" "g.193350129_193357881dup" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "dup ex7-9" "" "Germline" "" "" "0" "" "" "g.193632340_193640092dup" "" "pathogenic (dominant)" ""
"0000874326" "0" "90" "3" "193310933" "193415600" "del" "0" "00006" "OPA1_000691" "g.(?_193310933)_(193415600_?)del" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "del entire gene c.(?_-1)_(*3211_?)del" "" "Germline" "" "" "0" "" "" "g.(?_193593144)_(193697811_?)del" "" "pathogenic (dominant)" ""
"0000874327" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874328" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874329" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874330" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874331" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874332" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874333" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874334" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874335" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874336" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874337" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874338" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874339" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874340" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874341" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874342" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874343" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874344" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874345" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874346" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874347" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874348" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874349" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874350" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874351" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874352" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874353" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874354" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874355" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874356" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874357" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874358" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874359" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874360" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874361" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874362" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874363" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874364" "0" "90" "3" "193384959" "193384962" "del" "0" "00006" "OPA1_000016" "g.193384959_193384962del" "39/278 case families" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193667170_193667173del" "" "pathogenic (dominant)" ""
"0000874365" "2" "90" "3" "193355008" "193355008" "subst" "0" "00006" "OPA1_000089" "g.193355008G>A" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193637219G>A" "" "pathogenic (dominant)" ""
"0000874366" "0" "90" "3" "193360824" "193360824" "subst" "0" "00006" "OPA1_000250" "g.193360824A>G" "" "{PMID:Weisschuh 2021:34242285}, {DOI:Weisschuh 2021:10.1371/journal.pone.0253987}" "" "" "" "Germline" "" "" "0" "" "" "g.193643035A>G" "" "pathogenic (dominant)" ""
"0000879971" "0" "70" "3" "193361156" "193361156" "subst" "0" "00006" "OPA1_000712" "g.193361156G>T" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.193643367G>T" "" "likely pathogenic" "ACMG"
"0000881230" "0" "90" "3" "193355069" "193355069" "subst" "0" "02300" "OPA1_000020" "g.193355069G>A" "" "{PMID:Marinakis 2021:34008892}" "" "NM_015560.2:c.869G>A (Arg290Gln)" "ACMG PS3, PM1, PM2, PM5, PP2, PP3, PP5" "Germline/De novo (untested)" "" "rs121908375" "0" "" "" "g.193637280G>A" "" "pathogenic (dominant)" "ACMG"
"0000885689" "0" "30" "3" "193311212" "193311212" "subst" "0.000451651" "02330" "OPA1_000713" "g.193311212C>T" "" "" "" "OPA1(NM_130837.3):c.32+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885690" "0" "30" "3" "193336738" "193336738" "subst" "0.000178789" "02330" "OPA1_000714" "g.193336738G>C" "" "" "" "OPA1(NM_130837.3):c.678+13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885691" "0" "90" "3" "193360561" "193360561" "subst" "0" "02327" "OPA1_000715" "g.193360561T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000885692" "0" "30" "3" "193360835" "193360835" "subst" "0.000464169" "02330" "OPA1_000329" "g.193360835T>G" "" "" "" "OPA1(NM_130837.2):c.1302T>G (p.P434=), OPA1(NM_130837.3):c.1302T>G (p.P434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885693" "0" "90" "3" "193361796" "193361796" "dup" "0" "02327" "OPA1_000716" "g.193361796dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000885694" "0" "70" "3" "193372764" "193372764" "subst" "0" "02330" "OPA1_000391" "g.193372764A>G" "" "" "" "OPA1(NM_130837.3):c.2126A>G (p.D709G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000885695" "0" "90" "3" "193377319" "193377319" "subst" "0" "02327" "OPA1_000599" "g.193377319G>A" "" "" "" "OPA1(NM_130837.3):c.2489G>A (p.W830*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000885696" "0" "90" "3" "193380725" "193380725" "subst" "0" "02330" "OPA1_000207" "g.193380725C>T" "" "" "" "OPA1(NM_130837.3):c.2635C>T (p.R879*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000909004" "0" "90" "3" "193349634" "193349634" "subst" "0" "04076" "OPA1_000718" "g.193349634A>G" "" "leads to pseudoexon inclusion" "" "r.678_679ins(90)" "" "Germline" "?" "" "0" "" "" "g.193631845A>G" "" "likely pathogenic (dominant)" ""
"0000909049" "0" "90" "3" "193348548" "193348548" "subst" "0" "04076" "OPA1_000717" "g.193348548T>G" "" "" "" "r.624_625ins(68)" "Leads to pseudoexon inclusion" "Germline" "" "" "0" "" "" "g.193630759T>G" "" "likely pathogenic (dominant)" ""
"0000911881" "0" "90" "3" "193360794" "193360794" "subst" "0" "02330" "OPA1_000001" "g.193360794C>T" "" "" "" "OPA1(NM_130837.3):c.1261C>T (p.R421*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000911882" "0" "50" "3" "193384178" "193384178" "subst" "0" "02327" "OPA1_000532" "g.193384178G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000918916" "0" "70" "3" "193365922" "193365922" "subst" "0.0000325142" "01602" "OPA1_000227" "g.193365922G>A" "" "" "" "" "" "Unknown" "" "rs147077380" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000918960" "0" "70" "3" "193364945" "193364945" "subst" "0" "01602" "OPA1_000719" "g.193364945G>C" "" "" "" "" "" "Unknown" "" "rs1157991384" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000923889" "0" "90" "3" "193335990" "193335990" "subst" "0" "02330" "OPA1_000282" "g.193335990G>A" "" "" "" "OPA1(NM_130837.3):c.610+364G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000923890" "0" "90" "3" "193364951" "193364951" "subst" "0" "02327" "OPA1_000297" "g.193364951C>T" "" "" "" "OPA1(NM_130837.3):c.1852C>T (p.Q618*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000923891" "0" "90" "3" "193372777" "193372777" "dup" "0" "02330" "OPA1_000422" "g.193372777dup" "" "" "" "OPA1(NM_130837.2):c.2139dupA (p.Q714Tfs*4), OPA1(NM_130837.3):c.2139dupA (p.Q714Tfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000928751" "0" "90" "3" "193361809" "193361812" "del" "0" "02330" "OPA1_000720" "g.193361809_193361812del" "" "" "" "OPA1(NM_130837.3):c.1523_1526delGTCA (p.S508Kfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000928752" "0" "90" "3" "193363569" "193363569" "del" "0" "02330" "OPA1_000499" "g.193363569del" "" "" "" "OPA1(NM_130837.3):c.1734delT (p.Q579Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000928753" "0" "50" "3" "193363572" "193363572" "subst" "0.0000571685" "02329" "OPA1_000721" "g.193363572G>C" "" "" "" "OPA1(NM_130837.3):c.1737G>C (p.Q579H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000931783" "11" "70" "3" "193361167" "193361167" "subst" "0.000634322" "00006" "OPA1_000174" "g.193361167A>G" "" "{PMID:Rots 2023:37196654}" "" "" "" "Germline" "" "" "0" "" "" "g.193643378A>G" "" "likely pathogenic (recessive)" ""
"0000931784" "21" "50" "3" "193332592" "193332609" "del" "0" "00006" "OPA1_000082" "g.193332592_193332609del" "" "{PMID:Rots 2023:37196654}" "" "" "" "Germline" "" "" "0" "" "" "g.193614803_193614820del" "" "VUS" ""
"0000933814" "0" "90" "3" "193355757" "193355757" "subst" "0" "03780" "OPA1_000723" "g.193355757A>G" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.193637968A>G" "" "pathogenic (dominant)" ""
"0000933815" "0" "90" "3" "193355002" "193355002" "subst" "0" "03780" "OPA1_000722" "g.193355002T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.193637213T>C" "" "pathogenic (dominant)" ""
"0000948095" "0" "50" "3" "193361887" "193361887" "subst" "0" "02330" "OPA1_000724" "g.193361887C>A" "" "" "" "OPA1(NM_130837.3):c.1601C>A (p.P534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948096" "0" "50" "3" "193372737" "193372737" "subst" "0.0000243954" "02325" "OPA1_000725" "g.193372737A>G" "" "" "" "OPA1(NM_015560.3):c.1934A>G (p.N645S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes OPA1
## Count = 2176
"{{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}}" "{{VariantOnTranscript/Protein/Domain}}"
"0000063614" "00023887" "90" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Ala299Pro)" "" ""
"0000063614" "00015048" "90" "1060" "0" "1060" "0" "c.1060G>C" "r.(?)" "p.(Ala354Pro)" "11" ""
"0000063615" "00023887" "50" "904" "0" "904" "0" "c.904A>C" "r.(?)" "p.(Thr302Pro)" "" ""
"0000063615" "00015048" "50" "1069" "0" "1069" "0" "c.1069A>C" "r.(?)" "p.(Thr357Pro)" "11" ""
"0000063616" "00023887" "50" "1590" "-75" "1590" "-75" "c.1590-75G>A" "r.(?)" "p.(=)" "" ""
"0000063616" "00015048" "50" "1755" "-75" "1755" "-75" "c.1755-75G>A" "r.(?)" "p.(=)" "18i" ""
"0000063617" "00023887" "50" "1589" "22" "1589" "22" "c.1589+22T>G" "r.(?)" "p.(=)" "" ""
"0000063617" "00015048" "50" "1754" "22" "1754" "22" "c.1754+22T>G" "r.(?)" "p.(=)" "18i" ""
"0000063618" "00023887" "10" "1706" "-110" "1706" "-110" "c.1706-110C>T" "r.(?)" "p.(=)" "" ""
"0000063618" "00015048" "10" "1871" "-110" "1871" "-110" "c.1871-110C>T" "r.(?)" "p.(=)" "19i" ""
"0000063619" "00023887" "50" "2492" "0" "2492" "0" "c.2492G>A" "r.(?)" "p.(Ser831Asn)" "" ""
"0000063619" "00015048" "50" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Ser886Asn)" "26" ""
"0000063620" "00023887" "50" "1478" "0" "1478" "0" "c.1478T>A" "r.(?)" "p.(Met493Lys)" "" ""
"0000063620" "00015048" "50" "1643" "0" "1643" "0" "c.1643T>A" "r.(?)" "p.(Met548Lys)" "17" ""
"0000063621" "00023887" "50" "1369" "0" "1369" "0" "c.1369C>A" "r.(?)" "p.(Pro457Thr)" "" ""
"0000063621" "00015048" "50" "1534" "0" "1534" "0" "c.1534C>A" "r.(?)" "p.(Pro512Thr)" "16" ""
"0000063622" "00023887" "90" "1065" "2" "1065" "2" "c.1065+2T>G" "r.spl?" "p.(=)" "" ""
"0000063622" "00015048" "90" "1230" "2" "1230" "2" "c.1230+2T>G" "r.spl" "p.?" "12i" ""
"0000063623" "00023887" "50" "1264" "0" "1264" "0" "c.1264A>C" "r.(?)" "p.(Ser422Arg)" "" ""
"0000063623" "00015048" "50" "1429" "0" "1429" "0" "c.1429A>C" "r.(?)" "p.(Ser477Arg)" "15" ""
"0000063624" "00023887" "50" "1444" "0" "1444" "0" "c.1444A>T" "r.(spl?)" "p.(Ile482Phe)" "" ""
"0000063624" "00015048" "50" "1609" "0" "1609" "0" "c.1609A>T" "r.(spl?)" "p.(Ile537Phe)" "16" ""
"0000063625" "00023887" "90" "1643" "0" "1643" "0" "c.1643dup" "r.(?)" "p.(Ser549Ilefs*13)" "" ""
"0000063625" "00015048" "90" "1808" "0" "1808" "0" "c.1808dup" "r.(?)" "p.(Ser604Ilefs*13)" "19" ""
"0000063626" "00023887" "90" "1881" "0" "1882" "0" "c.1881_1882del" "r.(?)" "p.(Arg627Serfs*7)" "" ""
"0000063626" "00015048" "90" "2046" "0" "2047" "0" "c.2046_2047del" "r.(?)" "p.(Arg682Serfs*7)" "22" ""
"0000063627" "00023887" "90" "1989" "0" "1992" "0" "c.1989_1992del" "r.(?)" "p.(Lys663Asnfs*7)" "" ""
"0000063627" "00015048" "90" "2154" "0" "2157" "0" "c.2154_2157del" "r.(?)" "p.(Lys718Asnfs*7)" "22" ""
"0000063628" "00023887" "10" "2708" "-163" "2708" "-163" "c.2708-163G>A" "r.(?)" "p.(=)" "" ""
"0000063628" "00015048" "10" "2873" "-163" "2873" "-163" "c.2873-163G>A" "r.(?)" "p.(=)" "28i" ""
"0000063629" "00023887" "50" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Pro127Leu)" "" ""
"0000063629" "00015048" "50" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Pro127Leu)" "3" ""
"0000063630" "00023887" "50" "32" "24" "32" "24" "c.32+24C>G" "r.(?)" "p.(=)" "" ""
"0000063630" "00015048" "50" "32" "24" "32" "24" "c.32+24C>G" "r.(?)" "p.(=)" "1i" ""
"0000063631" "00023887" "50" "1137" "0" "1137" "0" "c.1137T>G" "r.(?)" "p.(=)" "" ""
"0000063631" "00015048" "50" "1302" "0" "1302" "0" "c.1302T>G" "r.(?)" "p.(=)" "13" ""
"0000063632" "00023887" "50" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asp654Gly)" "" ""
"0000063632" "00015048" "50" "2126" "0" "2126" "0" "c.2126A>G" "r.(?)" "p.(Asp709Gly)" "22" ""
"0000063633" "00023887" "90" "1065" "5" "1065" "5" "c.1065+5G>A" "r.spl?" "p.(=)" "" ""
"0000063633" "00015048" "90" "1230" "5" "1230" "5" "c.1230+5G>A" "r.spl?" "p.?" "12i" ""
"0000063634" "00023887" "10" "1141" "-45" "1141" "-45" "c.1141-45C>T" "r.(?)" "p.(=)" "" ""
"0000063634" "00015048" "10" "1306" "-45" "1306" "-45" "c.1306-45C>T" "r.(?)" "p.(=)" "13i" ""
"0000063635" "00023887" "50" "-277" "0" "-277" "0" "c.-277C>T" "r.(?)" "p.(=)" "" ""
"0000084839" "00023887" "50" "965" "0" "965" "0" "c.965T>G" "r.(?)" "p.(Met322Arg)" "9" ""
"0000084839" "00015048" "50" "1130" "0" "1130" "0" "c.1130T>G" "r.(?)" "p.(Met377Arg)" "11" ""
"0000084844" "00023887" "50" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000084844" "00015048" "50" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000130038" "00023887" "90" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "" ""
"0000130038" "00015048" "90" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500His)" "16" ""
"0000169169" "00023887" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "" ""
"0000169169" "00015048" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421*)" "13" ""
"0000170926" "00015048" "90" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Lys267Argfs*4)" "8" ""
"0000171473" "00023887" "00" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "" ""
"0000171473" "00015048" "97" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421*)" "13" "GTPase (exons 10-17)"
"0000171474" "00023887" "00" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Gln621*)" "" ""
"0000171474" "00015048" "97" "2026" "0" "2026" "0" "c.2026C>T" "r.(?)" "p.(Gln676*)" "22" "Dynamin Central (exons 18-26)"
"0000171475" "00023887" "00" "815" "0" "815" "0" "c.815T>C" "r.(?)" "p.(Leu272Pro)" "" ""
"0000171475" "00015048" "97" "980" "0" "980" "0" "c.980T>C" "r.(?)" "p.(Leu327Pro)" "10" "GTPase (exons 10-17)"
"0000171476" "00023887" "00" "1409" "0" "1409" "0" "c.1409A>G" "r.(?)" "p.(Asp470Gly)" "" ""
"0000171476" "00015048" "97" "1574" "0" "1574" "0" "c.1574A>G" "r.(?)" "p.(Asp525Gly)" "16" "GTPase (exons 10-17)"
"0000171477" "00023887" "00" "1721" "0" "1721" "0" "c.1721T>C" "r.(?)" "p.(Leu574Pro)" "" ""
"0000171477" "00015048" "97" "1886" "0" "1886" "0" "c.1886T>C" "r.(?)" "p.(Leu629Pro)" "20" "Dynamin Central (exons 18-26)"
"0000171478" "00023887" "00" "983" "0" "983" "0" "c.983A>G" "r.(?)" "p.(Lys328Arg)" "" ""
"0000171478" "00015048" "97" "1148" "0" "1148" "0" "c.1148A>G" "r.(?)" "p.(Val346_Phe383del)" "11" "GTPase (exons 10-17)"
"0000171479" "00023887" "00" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(=)" "" ""
"0000171479" "00015048" "97" "1149" "0" "1149" "0" "c.1149G>A" "r.(?)" "p.(Val346_Phe403del)" "11" "GTPase (exons 10-17)"
"0000171480" "00023887" "00" "1140" "1" "1140" "1" "c.1140+1G>A" "r.spl?" "p.?" "" ""
"0000171480" "00015048" "97" "1305" "1" "1305" "1" "c.1305+1G>A" "r.spl" "p.?" "13i" "GTPase (exons 10-17)"
"0000171481" "00023887" "00" "2818" "1" "2818" "1" "c.2818+1G>T" "r.spl?" "p.?" "" ""
"0000171481" "00015048" "97" "2983" "1" "2983" "1" "c.2983+1G>T" "r.spl" "p.?" "29i" "Putative GED (exons 29-30)"
"0000171482" "00023887" "00" "635" "0" "638" "0" "c.635_638del" "r.(?)" "p.(Lys212Argfs*15)" "" ""
"0000171482" "00015048" "97" "800" "0" "803" "0" "c.800_803del" "r.(?)" "p.(Lys267Argfs*15)" "8" "Non-specific domain"
"0000171483" "00023887" "00" "1252" "0" "1253" "0" "c.1252_1253del" "r.(?)" "p.(Ile418Phefs*12)" "" ""
"0000171483" "00015048" "97" "1417" "0" "1418" "0" "c.1417_1418del" "r.(?)" "p.(Ile473Phefs*12)" "15" "GTPase (exons 10-17)"
"0000171484" "00023887" "00" "1590" "-22" "1593" "0" "c.1590-22_1593del" "r.spl?" "p.?" "" ""
"0000171484" "00015048" "97" "1755" "-22" "1758" "0" "c.1755-22_1758del" "" "p.(Lys584fs*534)" "18i_19" "Dynamin Central (exons 18-26)"
"0000171485" "00023887" "00" "1881" "0" "1882" "0" "c.1881_1882del" "r.(?)" "p.(Arg627Serfs*7)" "" ""
"0000171485" "00015048" "97" "2046" "0" "2047" "0" "c.2046_2047del" "r.(?)" "p.(Arg682Serfs*7)" "22" "Dynamin Central (exons 18-26)"
"0000171486" "00023887" "00" "2098" "0" "2103" "0" "c.2098_2103del" "r.(?)" "p.(Leu700_Lys701del)" "" ""
"0000171486" "00015048" "97" "2263" "0" "2268" "0" "c.2263_2268del" "r.(?)" "p.(Leu755_Lys756del)" "23" "Dynamin Central (exons 18-26)"
"0000171487" "00023887" "00" "2366" "0" "2366" "0" "c.2366del" "r.(?)" "p.(Asn789Metfs*11)" "" ""
"0000171487" "00015048" "97" "2531" "0" "2531" "0" "c.2531del" "r.(?)" "p.(Asn844Metfs*11)" "26" "Dynamin Central (exons 18-26)"
"0000171488" "00023887" "00" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" ""
"0000171488" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED (exons 29-30)"
"0000171489" "00023887" "00" "1569" "0" "1569" "0" "c.1569dup" "r.(?)" "p.(Gln524Serfs*38)" "" ""
"0000171489" "00015048" "97" "1734" "0" "1734" "0" "c.1734dup" "r.(?)" "p.(Gln579Serfs*38)" "18" "Dynamin Central (exons 18-26)"
"0000171490" "00023887" "00" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Glu)" "" ""
"0000171490" "00015048" "97" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Gly355Glu)" "11" "GTPase (exons 10-17)"
"0000171491" "00023887" "00" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" ""
"0000171491" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exons 10-17)"
"0000171492" "00023887" "00" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "" ""
"0000171492" "00015048" "97" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "10" "GTPase (exons 10-17)"
"0000171493" "00023887" "00" "1018" "0" "1018" "0" "c.1018del" "r.(?)" "p.(Leu340Tyrfs*20)" "" ""
"0000171493" "00015048" "97" "1183" "0" "1183" "0" "c.1183del" "r.(?)" "p.(Leu395Tyrfs*20)" "12" "GTPase (exons 10-17)"
"0000171494" "00023887" "00" "1296" "0" "1298" "0" "c.1296_1298del" "r.(?)" "p.(Ile433del)" "" ""
"0000171494" "00015048" "97" "1461" "0" "1463" "0" "c.1461_1463del" "r.(?)" "p.(Ile488del)" "15" "GTPase (exons 10-17)"
"0000171495" "00023887" "00" "1354" "0" "1354" "0" "c.1354del" "r.(?)" "p.(Val452Serfs*15)" "" ""
"0000171495" "00015048" "97" "1519" "0" "1519" "0" "c.1519del" "r.(?)" "p.(Val507Serfs*15)" "16" "GTPase (exons 10-17)"
"0000171496" "00023887" "00" "1645" "0" "1645" "0" "c.1645dup" "r.(?)" "p.(Ser549Phefs*13)" "" ""
"0000171496" "00015048" "97" "1810" "0" "1810" "0" "c.1810dup" "r.(?)" "p.(Ser604Phefs*13)" "19" "Dynamin Central (exons 18-26)"
"0000171497" "00023887" "00" "1848" "-1" "2013" "1" "c.(1847+1_1848-1)_(2013+1_2014-1)del" "r.(?)" "p.(Glu617Leufs*14)" "" ""
"0000171497" "00015048" "97" "2013" "-1" "2178" "1" "c.(2012+1_2013-1)_(2178+1_2179-1)del" "r.(?)" "p.(Glu672Leufs*14)" "21i_22i" "Dynamin Central (exons 18-26)"
"0000171498" "00023887" "00" "635" "0" "636" "0" "c.635_636del" "r.(?)" "p.(Lys212Argfs*4)" "" ""
"0000171498" "00015048" "97" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Lys267Argfs*4)" "8" "Non-specific domain"
"0000171499" "00023887" "00" "794" "0" "797" "0" "c.794_797del" "r.(?)" "p.(Ile265Thrfs*42)" "" ""
"0000171499" "00015048" "97" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ile320Thrfs*42)" "10" "GTPase (exons 10-17)"
"0000171500" "00023887" "00" "870" "5" "870" "5" "c.870+5G>A" "r.spl?" "p.?" "" ""
"0000171500" "00015048" "97" "1035" "5" "1035" "5" "c.1035+5G>A" "r.spl?" "p.(Lys317_Arg345del)" "10i" "GTPase (exons 10-17)"
"0000171501" "00023887" "00" "1152" "0" "1152" "0" "c.1152A>C" "r.(?)" "p.(Leu384Phe)" "" ""
"0000171501" "00015048" "97" "1317" "0" "1317" "0" "c.1317A>C" "r.(?)" "p.(Leu439Phe)" "14" "GTPase (exons 10-17)"
"0000171502" "00023887" "00" "1508" "0" "1508" "0" "c.1508C>A" "r.(?)" "p.(Thr503Lys)" "" ""
"0000171502" "00015048" "97" "1673" "0" "1673" "0" "c.1673C>A" "r.(?)" "p.(Thr558Lys)" "17" "GTPase (exons 10-17)"
"0000171503" "00023887" "00" "1515" "0" "1515" "0" "c.1515A>C" "r.(?)" "p.(Lys505Asn)" "" ""
"0000171503" "00015048" "97" "1680" "0" "1680" "0" "c.1680A>C" "r.(?)" "p.(Lys560Asn)" "17" "GTPase (exons 10-17)"
"0000171504" "00023887" "00" "1516" "1" "1516" "1" "c.1516+1G>T" "r.spl?" "p.?" "" ""
"0000171504" "00015048" "97" "1681" "1" "1681" "1" "c.1681+1G>T" "r.spl" "p.?" "17i" "GTPase (exons 10-17)"
"0000171505" "00023887" "00" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Arg557*)" "" ""
"0000171505" "00015048" "97" "1834" "0" "1834" "0" "c.1834C>T" "r.(?)" "p.(Arg612*)" "19" "Dynamin Central (exons 18-26)"
"0000171506" "00023887" "00" "1780" "0" "1783" "0" "c.1780_1783del" "r.(?)" "p.(Phe594Lysfs*14)" "" ""
"0000171506" "00015048" "97" "1945" "0" "1948" "0" "c.1945_1948del" "r.(?)" "p.(Phe649Lysfs*14)" "21" "Dynamin Central (exons 18-26)"
"0000171507" "00023887" "00" "1798" "0" "1798" "0" "c.1798G>T" "r.(?)" "p.(Glu600*)" "" ""
"0000171507" "00015048" "97" "1963" "0" "1963" "0" "c.1963G>T" "r.(?)" "p.(Glu655*)" "21" "Dynamin Central (exons 18-26)"
"0000171508" "00023887" "00" "2613" "1" "2613" "1" "c.2613+1G>A" "r.spl?" "p.?" "" ""
"0000171508" "00015048" "97" "2778" "1" "2778" "1" "c.2778+1G>A" "r.spl" "p.?" "27i" "Non-specific domain"
"0000171509" "00023887" "00" "2713" "0" "2713" "0" "c.2713C>T" "r.(?)" "p.(Arg905*)" "" ""
"0000171509" "00015048" "97" "2878" "0" "2878" "0" "c.2878C>T" "r.(?)" "p.(Arg960*)" "29" "Putative GED (exons 29-30)"
"0000171510" "00023887" "00" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(Lys924Argfs*44)" "" ""
"0000171510" "00015048" "97" "2936" "0" "2936" "0" "c.2936del" "r.(?)" "p.(Lys979Argfs*44)" "29" "Putative GED (exons 29-30)"
"0000171511" "00023887" "00" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Gln934*)" "" ""
"0000171511" "00015048" "97" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Gln989*)" "29" "Putative GED (exons 29-30)"
"0000171512" "00023887" "00" "2825" "0" "2828" "0" "c.2825_2828del" "r.(?)" "p.(Val942Glufs*25)" "" ""
"0000171512" "00015048" "97" "2990" "0" "2993" "0" "c.2990_2993del" "r.(?)" "p.(Val997Glufs*25)" "30" "Putative GED (exons 29-30)"
"0000171513" "00023887" "00" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(=)" "" ""
"0000171513" "00015048" "13" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(=)" "2" "Basic (exons 1-3)"
"0000171514" "00023887" "00" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(=)" "" ""
"0000171514" "00015048" "13" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(=)" "3" "Basic (exons 1-3)"
"0000171515" "00023887" "00" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Ser158Asn)" "" ""
"0000171515" "00015048" "13" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Ser158Asn)" "4" "Non-specific domain"
"0000171516" "00023887" "00" "478" "0" "478" "0" "c.478G>C" "r.(?)" "p.(Glu160Gln)" "" ""
"0000171516" "00015048" "13" "478" "0" "478" "0" "c.478G>C" "r.(?)" "p.(Glu160Gln)" "4" "Non-specific domain"
"0000171517" "00023887" "00" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Pro167Leu)" "" ""
"0000171517" "00015048" "13" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Pro167Leu)" "4" "Non-specific domain"
"0000171518" "00023887" "00" "557" "-19" "557" "-19" "c.557-19T>C" "" "p.(=)" "" ""
"0000171518" "00015048" "13" "611" "-19" "611" "-19" "c.611-19T>C" "" "p.(=)" "4i" "Non-specific domain"
"0000171519" "00023887" "00" "556" "178" "556" "178" "c.556+178G>T" "r.(?)" "p.(=)" "" ""
"0000171519" "00015048" "13" "556" "178" "556" "178" "c.556+178G>T" "r.(?)" "p.(=)" "4i" "Non-specific domain"
"0000171520" "00023887" "00" "575" "0" "575" "0" "c.575C>T" "" "p.(Ala192Val)" "" ""
"0000171520" "00015048" "13" "629" "0" "629" "0" "c.629C>T" "" "p.(Ala210Val)" "6" "Non-specific domain"
"0000171521" "00023887" "00" "783" "49" "783" "51" "c.783+49_783+51del" "r.(/)" "p.(=)" "7i" ""
"0000171521" "00015048" "13" "948" "49" "948" "51" "c.948+49_948+51del" "r.(?)" "p.(=)" "9i" "Non-specific domain"
"0000171522" "00023887" "00" "870" "32" "870" "32" "c.870+32T>C" "r.(?)" "p.(=)" "" ""
"0000171522" "00015048" "13" "1035" "32" "1035" "32" "c.1035+32T>C" "r.(?)" "p.(=)" "10i" "GTPase (exons 10-17)"
"0000171523" "00023887" "00" "871" "-26" "871" "-26" "c.871-26A>G" "r.(?)" "p.(=)" "" ""
"0000171523" "00015048" "13" "1036" "-26" "1036" "-26" "c.1036-26A>G" "r.(?)" "p.(=)" "10i" "GTPase (exons 10-17)"
"0000171524" "00023887" "00" "1065" "18" "1065" "18" "c.1065+18A>G" "r.(?)" "p.(=)" "" ""
"0000171524" "00015048" "13" "1230" "18" "1230" "18" "c.1230+18A>G" "r.(?)" "p.(=)" "12i" "GTPase (exons 10-17)"
"0000171525" "00023887" "00" "1096" "0" "1096" "0" "c.1096C>A" "r.(?)" "p.(=)" "" ""
"0000171525" "00015048" "13" "1261" "0" "1261" "0" "c.1261C>A" "r.(?)" "p.(=)" "13" "GTPase (exons 10-17)"
"0000171526" "00023887" "00" "1312" "32" "1312" "32" "c.1312+32A>G" "r.(?)" "p.(=)" "" ""
"0000171526" "00015048" "13" "1477" "32" "1477" "32" "c.1477+32A>G" "r.(?)" "p.(=)" "15i" "GTPase (exons 10-17)"
"0000171527" "00023887" "00" "1443" "23" "1443" "23" "c.1443+23G>A" "r.(?)" "p.(=)" "" ""
"0000171527" "00015048" "13" "1608" "23" "1608" "23" "c.1608+23G>A" "r.(?)" "p.(=)" "16i" "GTPase (exons 10-17)"
"0000171528" "00023887" "00" "1444" "-75" "1444" "-75" "c.1444-75T>C" "r.(?)" "p.(=)" "" ""
"0000171528" "00015048" "13" "1609" "-75" "1609" "-75" "c.1609-75T>C" "r.(?)" "p.(=)" "16i" "GTPase (exons 10-17)"
"0000171529" "00023887" "00" "1590" "-35" "1590" "-35" "c.1590-35A>T" "r.(?)" "p.(=)" "" ""
"0000171529" "00015048" "13" "1755" "-35" "1755" "-35" "c.1755-35A>T" "r.(?)" "p.(=)" "18i" "Dynamin Central (exons 18-26)"
"0000171530" "00023887" "00" "1648" "0" "1648" "0" "c.1648G>A" "r.(?)" "p.(Asp550Asn)" "" ""
"0000171530" "00015048" "13" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Asp605Asn)" "19" "Dynamin Central (exons 18-26)"
"0000171531" "00023887" "00" "1770" "3" "1770" "3" "c.1770+3A>G" "r.spl?" "p.?" "" ""
"0000171531" "00015048" "13" "1935" "3" "1935" "3" "c.1935+3A>G" "r.spl?" "p.(=)" "20i" "Dynamin Central (exons 18-26)"
"0000171532" "00023887" "00" "1770" "16" "1770" "16" "c.1770+16T>G" "r.(?)" "p.(=)" "" ""
"0000171532" "00015048" "13" "1935" "16" "1935" "16" "c.1935+16T>G" "r.(?)" "p.(=)" "20i" "Dynamin Central (exons 18-26)"
"0000171533" "00023887" "00" "1770" "51" "1770" "51" "c.1770+51T>G" "r.(?)" "p.(=)" "" ""
"0000171533" "00015048" "13" "1935" "51" "1935" "51" "c.1935+51T>G" "r.(?)" "p.(=)" "20i" "Dynamin Central (exons 18-26)"
"0000171534" "00023887" "00" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(=)" "" ""
"0000171534" "00015048" "13" "2274" "0" "2274" "0" "c.2274T>C" "r.(?)" "p.(=)" "23" "Dynamin Central (exons 18-26)"
"0000171535" "00023887" "00" "2166" "115" "2166" "115" "c.2166+115G>T" "r.(?)" "p.(=)" "" ""
"0000171535" "00015048" "13" "2331" "115" "2331" "115" "c.2331+115G>T" "r.(?)" "p.(=)" "23i" "Dynamin Central (exons 18-26)"
"0000171536" "00023887" "00" "2167" "-83" "2167" "-83" "c.2167-83T>G" "r.(?)" "p.(=)" "" ""
"0000171536" "00015048" "13" "2332" "-83" "2332" "-83" "c.2332-83T>G" "r.(?)" "p.(=)" "23i" "Dynamin Central (exons 18-26)"
"0000171537" "00023887" "00" "2355" "16" "2355" "16" "c.2355+16T>A" "r.(?)" "p.(=)" "" ""
"0000171537" "00015048" "13" "2520" "16" "2520" "16" "c.2520+16T>A" "r.(?)" "p.(=)" "25i" "Dynamin Central (exons 18-26)"
"0000171538" "00023887" "00" "2356" "-155" "2356" "-155" "c.2356-155del" "r.(?)" "p.(=)" "" ""
"0000171538" "00015048" "13" "2521" "-155" "2521" "-155" "c.2521-155del" "r.(?)" "p.(=)" "25i" "Dynamin Central (exons 18-26)"
"0000171539" "00023887" "00" "2614" "-142" "2614" "-142" "c.2614-142T>C" "r.(?)" "p.(=)" "" ""
"0000171539" "00015048" "13" "2779" "-142" "2779" "-142" "c.2779-142T>C" "r.(?)" "p.(=)" "27i" "Non-specific domain"
"0000171540" "00023887" "00" "2614" "-112" "2614" "-112" "c.2614-112A>G" "r.(?)" "p.(=)" "" ""
"0000171540" "00015048" "13" "2779" "-112" "2779" "-112" "c.2779-112A>G" "r.(?)" "p.(=)" "27i" "Non-specific domain"
"0000171541" "00023887" "00" "2707" "25" "2707" "25" "c.2707+25T>A" "r.(?)" "p.(=)" "" ""
"0000171541" "00015048" "13" "2872" "25" "2872" "25" "c.2872+25T>A" "r.(?)" "p.(=)" "28i" "Non-specific domain"
"0000171542" "00023887" "00" "2715" "0" "2715" "0" "c.2715A>G" "r.(?)" "p.(=)" "" ""
"0000171542" "00015048" "13" "2880" "0" "2880" "0" "c.2880A>G" "r.(?)" "p.(=)" "29" "Putative GED (exons 29-30)"
"0000171543" "00023887" "00" "2818" "23" "2818" "23" "c.2818+23T>C" "r.(?)" "p.(=)" "" ""
"0000171543" "00015048" "13" "2983" "23" "2983" "23" "c.2983+23T>C" "r.(?)" "p.(=)" "29i" "Putative GED (exons 29-30)"
"0000171544" "00023887" "00" "2720" "0" "2720" "0" "c.2720A>G" "r.(?)" "p.(Glu907Gly)" "" ""
"0000171544" "00015048" "13" "2885" "0" "2885" "0" "c.2885A>G" "r.(?)" "p.(Glu962Gly)" "29" "Putative GED (exons 29-30)"
"0000171545" "00023887" "00" "1187" "0" "1187" "0" "c.1187T>G" "r.(?)" "p.(Leu396Arg)" "" ""
"0000171545" "00015048" "97" "1352" "0" "1352" "0" "c.1352T>G" "r.(?)" "p.(Leu451Arg)" "14" "GTPase (exons 10-17)"
"0000171546" "00023887" "00" "1712" "0" "1712" "0" "c.1712G>A" "r.(?)" "p.(Arg571His)" "" ""
"0000171546" "00015048" "97" "1877" "0" "1877" "0" "c.1877G>A" "r.(?)" "p.(Arg626His)" "20" "Dynamin Central (exons 18-26)"
"0000171547" "00023887" "00" "733" "0" "733" "0" "c.733A>T" "r.(?)" "p.(Lys245*)" "" ""
"0000171547" "00015048" "97" "898" "0" "898" "0" "c.898A>T" "r.(?)" "p.(Lys300*)" "9" "Non-specific domain"
"0000171548" "00023887" "00" "448" "1" "448" "1" "c.448+1G>C" "r.spl?" "p.?" "" ""
"0000171548" "00015048" "97" "448" "1" "448" "1" "c.448+1G>C" "r.spl" "p.?" "3i" "Basic (exons 1-3)"
"0000171549" "00023887" "00" "984" "3" "984" "3" "c.984+3A>T" "r.spl?" "p.?" "" ""
"0000171549" "00015048" "97" "1149" "3" "1149" "3" "c.1149+3A>T" "r.spl?" "p.?" "11i" "GTPase (exons 10-17)"
"0000171550" "00023887" "00" "984" "1" "984" "5" "c.984+1_984+5del" "r.spl?" "p.?" "" ""
"0000171550" "00015048" "97" "1149" "1" "1149" "5" "c.1149+1_1149+5del" "r.spl?" "p.?" "11i" "GTPase (exons 10-17)"
"0000171551" "00023887" "00" "1212" "1" "1212" "1" "c.1212+1G>A" "r.spl?" "p.?" "" ""
"0000171551" "00015048" "97" "1377" "1" "1377" "1" "c.1377+1G>A" "r.spl" "p.(Thr436_Asn459del)" "14i" "GTPase (exons 10-17)"
"0000171552" "00023887" "00" "2708" "-10" "2708" "-10" "c.2708-10C>G" "r.(?)" "p.(=)" "" ""
"0000171552" "00015048" "97" "2873" "-10" "2873" "-10" "c.2873-10C>G" "r.(?)" "p.(=)" "28i" "Non-specific domain"
"0000171553" "00023887" "00" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000171553" "00015048" "97" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" "Basic (exons 1-3)"
"0000171554" "00023887" "00" "1304" "0" "1305" "0" "c.1304_1305del" "r.(?)" "p.(Cys435Tyrfs*9)" "" ""
"0000171554" "00015048" "97" "1469" "0" "1470" "0" "c.1469_1470del" "r.(?)" "p.(Cys490Tyrfs*9)" "15" "GTPase (exons 10-17)"
"0000171555" "00023887" "00" "1760" "0" "1770" "1" "c.1760_1770+1del" "r.spl?" "p.?" "" ""
"0000171555" "00015048" "97" "1925" "0" "1935" "1" "c.1925_1935+1del" "r.(?)" "p.(Glu642_Arg645del)" "20_20i" "Dynamin Central (exons 18-26)"
"0000171556" "00023887" "00" "2061" "0" "2061" "0" "c.2061del" "r.(?)" "p.(Glu687Aspfs*36)" "" ""
"0000171556" "00015048" "97" "2226" "0" "2226" "0" "c.2226del" "r.(?)" "p.(Glu742Aspfs*36)" "23" "Dynamin Central (exons 18-26)"
"0000171557" "00023887" "00" "2826" "0" "2826" "0" "c.2826del" "r.(?)" "p.(Arg943Glufs*25)" "" ""
"0000171557" "00015048" "97" "2991" "0" "2991" "0" "c.2991del" "r.(?)" "p.(Arg998Glufs*25)" "30" "Putative GED (exons 29-30)"
"0000171558" "00023887" "00" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Trp2*)" "" ""
"0000171558" "00015048" "97" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Trp2*)" "1" "Basic (exons 1-3)"
"0000171559" "00023887" "00" "629" "0" "629" "0" "c.629C>A" "r.(?)" "p.(Ser210*)" "" ""
"0000171559" "00015048" "97" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265*)" "8" "Non-specific domain"
"0000171560" "00023887" "00" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "" ""
"0000171560" "00015048" "97" "1033" "0" "1033" "0" "c.1033C>T" "r.(?)" "p.(Arg345Trp)" "10" "GTPase (exons 10-17)"
"0000171561" "00023887" "00" "818" "0" "818" "0" "c.818A>C" "r.(?)" "p.(Asp273Ala)" "" ""
"0000171561" "00015048" "97" "983" "0" "983" "0" "c.983A>C" "r.(?)" "p.(Asp328Ala)" "10" "GTPase (exons 10-17)"
"0000171562" "00023887" "00" "869" "0" "869" "0" "c.869G>T" "r.(?)" "p.(Arg290Leu)" "" ""
"0000171562" "00015048" "97" "1034" "0" "1034" "0" "c.1034G>T" "r.(?)" "p.(Arg345Leu)" "10" "GTPase (exons 10-17)"
"0000171563" "00023887" "00" "932" "0" "932" "0" "c.932del" "r.(?)" "p.(Ala311Valfs*11)" "" ""
"0000171563" "00015048" "97" "1097" "0" "1097" "0" "c.1097del" "r.(?)" "p.(Ala366Valfs*11)" "11" "GTPase (exons 10-17)"
"0000171564" "00023887" "00" "1065" "3" "1065" "3" "c.1065+3A>C" "r.spl?" "p.?" "" ""
"0000171564" "00015048" "97" "1230" "3" "1230" "3" "c.1230+3A>C" "r.spl?" "p.?" "12i" "GTPase (exons 10-17)"
"0000171565" "00023887" "00" "1072" "0" "1093" "0" "c.1072_1093del" "r.(?)" "p.(Ala358Phefs*3)" "" ""
"0000171565" "00015048" "97" "1237" "0" "1258" "0" "c.1237_1258del" "r.(?)" "p.(Ala413Phefs*3)" "13" "GTPase (exons 10-17)"
"0000171566" "00023887" "00" "1153" "0" "1154" "0" "c.1153_1154del" "r.(?)" "p.(Asn385Cysfs*13)" "" ""
"0000171566" "00015048" "97" "1318" "0" "1319" "0" "c.1318_1319del" "r.(?)" "p.(Asn440Cysfs*13)" "14" "GTPase (exons 10-17)"
"0000171567" "00023887" "00" "1313" "0" "1313" "0" "c.1313A>T" "r.(?)" "p.(Asp438Val)" "" ""
"0000171567" "00015048" "97" "1478" "0" "1478" "0" "c.1478A>T" "r.(?)" "p.(Asp493Val)" "16" "GTPase (exons 10-17)"
"0000171568" "00023887" "00" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Lys468Glu)" "" ""
"0000171568" "00015048" "97" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Lys523Glu)" "16" "GTPase (exons 10-17)"
"0000171569" "00023887" "00" "1652" "0" "1654" "0" "c.1652_1654del" "r.(?)" "p.(Cys551del)" "" ""
"0000171569" "00015048" "97" "1817" "0" "1819" "0" "c.1817_1819del" "r.(?)" "p.(Cys606del)" "19" "Dynamin Central (exons 18-26)"
"0000171570" "00023887" "00" "2125" "0" "2138" "0" "c.2125_2138delinsGGATCGACACAC" "r.(?)" "p.(Ile709Glyfs*7)" "" ""
"0000171570" "00015048" "97" "2290" "0" "2303" "0" "c.2290_2303delinsGGATCGACACAC" "r.(?)" "p.(Ile764Glyfs*7)" "23" "Dynamin Central (exons 18-26)"
"0000171571" "00023887" "00" "2354" "0" "2354" "0" "c.2354A>G" "r.(?)" "p.(Gln785Arg)" "" ""
"0000171571" "00015048" "97" "2519" "0" "2519" "0" "c.2519A>G" "r.(?)" "p.(Gln840Arg)" "25" "Dynamin Central (exons 18-26)"
"0000171572" "00023887" "00" "2613" "1" "2613" "1" "c.2613+1G>C" "r.spl?" "p.?" "" ""
"0000171572" "00015048" "97" "2778" "1" "2778" "1" "c.2778+1G>C" "r.spl" "p.?" "27i" "Non-specific domain"
"0000171573" "00023887" "00" "2707" "2" "2707" "2" "c.2707+2T>C" "r.spl?" "p.?" "" ""
"0000171573" "00015048" "97" "2872" "2" "2872" "2" "c.2872+2T>C" "r.spl" "p.?" "28i" "Non-specific domain"
"0000171574" "00023887" "00" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "" ""
"0000171574" "00015048" "97" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500His)" "16" "GTPase (exons 10-17)"
"0000171575" "00023887" "00" "1212" "3" "1212" "3" "c.1212+3A>T" "r.spl?" "p.?" "" ""
"0000171575" "00015048" "97" "1377" "3" "1377" "3" "c.1377+3A>T" "r.spl?" "p.?" "14i" "GTPase (exons 10-17)"
"0000171576" "00023887" "00" "2855" "0" "2855" "0" "c.2855dup" "r.(?)" "p.(Ile953Hisfs*2)" "" ""
"0000171576" "00015048" "97" "3020" "0" "3020" "0" "c.3020dup" "r.(?)" "p.(Ile1008Hisfs*2)" "30" "Putative GED (exons 29-30)"
"0000171577" "00023887" "00" "2816" "0" "2816" "0" "c.2816T>C" "r.(?)" "p.(Leu939Pro)" "" ""
"0000171577" "00015048" "97" "2981" "0" "2981" "0" "c.2981T>C" "r.(?)" "p.(Leu994Pro)" "29" "Putative GED (exons 29-30)"
"0000171578" "00023887" "00" "2707" "0" "2707" "0" "c.2707G>C" "r.(?)" "p.(Val903Leu)" "" ""
"0000171578" "00015048" "97" "2872" "0" "2872" "0" "c.2872G>C" "r.(?)" "p.(Leu927_Glu957del)" "28" "Non-specific domain"
"0000171579" "00023887" "00" "2681" "0" "2681" "0" "c.2681dup" "r.(?)" "p.(Leu894Phefs*9)" "" ""
"0000171579" "00015048" "97" "2846" "0" "2846" "0" "c.2846dup" "r.(?)" "p.(Leu949Phefs*9)" "28" "Non-specific domain"
"0000171580" "00023887" "00" "2131" "0" "2131" "0" "c.2131C>T" "r.(?)" "p.(Arg711*)" "" ""
"0000171580" "00015048" "97" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Arg766*)" "23" "Dynamin Central (exons 18-26)"
"0000171581" "00023887" "00" "2029" "0" "2029" "0" "c.2029del" "r.(?)" "p.(Leu677Tyrfs*9)" "" ""
"0000171581" "00015048" "97" "2194" "0" "2194" "0" "c.2194del" "r.(?)" "p.(Leu732Tyrfs*9)" "23" "Dynamin Central (exons 18-26)"
"0000171582" "00023887" "00" "1212" "1" "1212" "1" "c.1212+1G>T" "r.spl?" "p.?" "" ""
"0000171582" "00015048" "97" "1377" "1" "1377" "1" "c.1377+1G>T" "r.spl" "p.?" "14i" "GTPase (exons 10-17)"
"0000171583" "00023887" "00" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Glu347*)" "" ""
"0000171583" "00015048" "97" "1204" "0" "1204" "0" "c.1204G>T" "r.(?)" "p.(Glu402*)" "12" "GTPase (exons 10-17)"
"0000171584" "00023887" "00" "1608" "0" "1608" "0" "c.1608A>C" "r.(?)" "p.(=)" "" ""
"0000171584" "00015048" "13" "1773" "0" "1773" "0" "c.1773A>C" "r.(?)" "p.(=)" "19" "Dynamin Central (exons 18-26)"
"0000171585" "00023887" "00" "2818" "108" "2818" "108" "c.2818+108G>A" "r.(?)" "p.(=)" "" ""
"0000171585" "00015048" "13" "2983" "108" "2983" "108" "c.2983+108G>A" "r.(?)" "p.(=)" "29i" "Putative GED (exons 29-30)"
"0000171586" "00015048" "97" "2013" "-1" "2178" "1" "c.(2012+1_2013-1)_(2178+1_2179-1)del" "r.?" "p.?" "21i_22i" "Dynamin Central (exons 18-26)"
"0000171587" "00023887" "00" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Ala8Ser)" "" ""
"0000171587" "00015048" "97" "22" "0" "22" "0" "c.22G>T" "r.(?)" "p.(Ala8Ser)" "1" "Basic (exons 1-3)"
"0000171588" "00023887" "00" "2013" "1" "2013" "1" "c.2013+1G>A" "r.spl?" "p.?" "" ""
"0000171588" "00015048" "97" "2178" "1" "2178" "1" "c.2178+1G>A" "r.spl" "p.?" "22i" "Dynamin Central (exons 18-26)"
"0000171589" "00023887" "00" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Arg590Trp)" "" ""
"0000171589" "00015048" "97" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Trp)" "20" "Dynamin Central (exons 18-26)"
"0000171590" "00023887" "00" "2184" "0" "2184" "0" "c.2184T>G" "r.(?)" "p.(Asn728Lys)" "" ""
"0000171590" "00015048" "97" "2349" "0" "2349" "0" "c.2349T>G" "r.(?)" "p.(Asn783Lys)" "24" "Dynamin Central (exons 18-26)"
"0000171591" "00023887" "00" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235*)" "" ""
"0000171591" "00015048" "97" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290*)" "9" "Non-specific domain"
"0000171592" "00023887" "00" "724" "0" "724" "0" "c.724G>T" "r.(?)" "p.(Glu242*)" "" ""
"0000171592" "00015048" "97" "889" "0" "889" "0" "c.889G>T" "r.(?)" "p.(Glu297*)" "9" "Non-specific domain"
"0000171593" "00023887" "00" "2510" "0" "2510" "0" "c.2510G>A" "r.(?)" "p.(Trp837*)" "" ""
"0000171593" "00015048" "97" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Trp892*)" "27" "Non-specific domain"
"0000171594" "00023887" "00" "1065" "2" "1065" "2" "c.1065+2T>C" "r.spl?" "p.?" "" ""
"0000171594" "00015048" "97" "1230" "2" "1230" "2" "c.1230+2T>C" "r.spl" "p.(Leu411_Glu435del)" "12i" "GTPase (exons 10-17)"
"0000171595" "00023887" "00" "1212" "0" "1212" "4" "c.1212_1212+4del" "r.spl?" "p.?" "" ""
"0000171595" "00015048" "97" "1377" "0" "1377" "4" "c.1377_1377+4del" "r.spl" "p.?" "14_14i" "GTPase (exons 10-17)"
"0000171596" "00023887" "00" "970" "0" "978" "0" "c.970_978del" "r.(?)" "p.(Arg324_Pro326del)" "" ""
"0000171596" "00015048" "97" "1135" "0" "1143" "0" "c.1135_1143del" "r.(?)" "p.(Arg379_Pro381del)" "11" "GTPase (exons 10-17)"
"0000171597" "00023887" "00" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Gly401Asp)" "" ""
"0000171597" "00015048" "97" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Gly456Asp)" "14" "GTPase (exons 10-17)"
"0000171598" "00023887" "00" "1640" "0" "1642" "0" "c.1640_1642dup" "r.(?)" "p.(Ala547dup)" "" ""
"0000171598" "00015048" "97" "1805" "0" "1807" "0" "c.1805_1807dup" "r.(?)" "p.(Ala602dup)" "19" "Dynamin Central (exons 18-26)"
"0000171599" "00023887" "00" "1670" "0" "1670" "0" "c.1670G>C" "r.(?)" "p.(Arg557Pro)" "" ""
"0000171599" "00015048" "97" "1835" "0" "1835" "0" "c.1835G>C" "r.(?)" "p.(Arg612Pro)" "19" "Dynamin Central (exons 18-26)"
"0000171600" "00023887" "00" "2613" "2" "2613" "2" "c.2613+2T>A" "r.spl?" "p.?" "" ""
"0000171600" "00015048" "97" "2778" "2" "2778" "2" "c.2778+2T>A" "r.spl" "p.(Ile888_Glu926del)" "27i" "Non-specific domain"
"0000171601" "00023887" "00" "870" "4" "870" "4" "c.870+4T>A" "r.spl?" "p.?" "" ""
"0000171601" "00015048" "13" "1035" "4" "1035" "4" "c.1035+4T>A" "r.(?)" "p.(=)" "10i" "GTPase (exons 10-17)"
"0000171602" "00023887" "00" "2808" "0" "2808" "0" "c.2808G>A" "r.(?)" "p.(=)" "" ""
"0000171602" "00015048" "13" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(=)" "29" "Putative GED (exons 29-30)"
"0000171603" "00023887" "00" "1444" "-179" "1444" "-179" "c.1444-179G>A" "r.(?)" "p.(=)" "" ""
"0000171603" "00015048" "13" "1609" "-179" "1609" "-179" "c.1609-179G>A" "r.(?)" "p.(=)" "16i" "GTPase (exons 10-17)"
"0000171604" "00023887" "00" "1770" "55" "1770" "55" "c.1770+55T>C" "r.(?)" "p.(=)" "" ""
"0000171604" "00015048" "13" "1935" "55" "1935" "55" "c.1935+55T>C" "r.(?)" "p.(=)" "20i" "Dynamin Central (exons 18-26)"
"0000171605" "00023887" "00" "2167" "-49" "2167" "-49" "c.2167-49A>G" "r.(?)" "p.(=)" "" ""
"0000171605" "00015048" "13" "2332" "-49" "2332" "-49" "c.2332-49A>G" "r.(?)" "p.(=)" "23i" "Dynamin Central (exons 18-26)"
"0000171606" "00023887" "00" "2356" "-154" "2356" "-154" "c.2356-154del" "r.(?)" "p.(=)" "" ""
"0000171606" "00015048" "13" "2521" "-154" "2521" "-154" "c.2521-154del" "r.(?)" "p.(=)" "25i" "Dynamin Central (exons 18-26)"
"0000171607" "00023887" "00" "2356" "-95" "2356" "-95" "c.2356-95dup" "r.(?)" "p.(=)" "" ""
"0000171607" "00015048" "13" "2521" "-95" "2521" "-95" "c.2521-95dup" "r.(?)" "p.(=)" "25i" "Dynamin Central (exons 18-26)"
"0000171608" "00023887" "00" "2522" "0" "2522" "0" "c.2522A>G" "r.(?)" "p.(Tyr841Cys)" "" ""
"0000171608" "00015048" "97" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(Tyr896Cys)" "27" "Non-specific domain"
"0000171609" "00023887" "00" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "" ""
"0000171609" "00015048" "97" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "2" "Basic (exons 1-3)"
"0000171610" "00023887" "00" "2780" "0" "2780" "0" "c.2780T>A" "r.(?)" "p.(Leu927*)" "" ""
"0000171610" "00015048" "97" "2945" "0" "2945" "0" "c.2945T>A" "r.(?)" "p.(Leu982*)" "29" "Putative GED (exons 29-30)"
"0000171611" "00023887" "00" "2883" "0" "2883" "0" "c.2883A>C" "r.(?)" "p.(*961Tyrext*13)" "" ""
"0000171611" "00015048" "97" "3048" "0" "3048" "0" "c.3048A>C" "r.(?)" "p.(*1016Tyrext*13)" "30" "Putative GED (exons 29-30)"
"0000171612" "00023887" "00" "1657" "0" "1657" "0" "c.1657del" "r.(?)" "p.(Trp553Glyfs*56)" "" ""
"0000171612" "00015048" "97" "1822" "0" "1822" "0" "c.1822del" "r.(?)" "p.(Trp608Glyfs*56)" "19" "Dynamin Central (exons 18-26)"
"0000171613" "00023887" "00" "1929" "0" "1929" "0" "c.1929del" "r.(?)" "p.(Met644*)" "" ""
"0000171613" "00015048" "97" "2094" "0" "2094" "0" "c.2094del" "r.(?)" "p.(Met699*)" "22" "Dynamin Central (exons 18-26)"
"0000171614" "00023887" "00" "32" "97" "32" "97" "c.32+97G>A" "r.(?)" "p.(=)" "" ""
"0000171614" "00015048" "13" "32" "97" "32" "97" "c.32+97G>A" "r.(?)" "p.(=)" "1i" "Basic (exons 1-3)"
"0000171615" "00023887" "00" "679" "-13" "679" "-13" "c.679-13T>G" "r.(?)" "p.(=)" "" ""
"0000171615" "00015048" "13" "844" "-13" "844" "-13" "c.844-13T>G" "r.(?)" "p.(=)" "8i" "Non-specific domain"
"0000171616" "00023887" "00" "1516" "24" "1516" "24" "c.1516+24T>A" "" "" "" ""
"0000171616" "00015048" "13" "1681" "24" "1681" "24" "c.1681+24T>A" "r.(?)" "p.(=)" "17i" "Basic (exons 1-3)"
"0000171617" "00023887" "00" "1517" "-33" "1517" "-33" "c.1517-33C>T" "r.(?)" "p.(=)" "" ""
"0000171617" "00015048" "13" "1682" "-33" "1682" "-33" "c.1682-33C>T" "r.(?)" "p.(=)" "17i" "Basic (exons 1-3)"
"0000171618" "00015048" "13" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "" "Basic (exons 1-3)"
"0000171619" "00015048" "13" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "" "Basic (exons 1-3)"
"0000171620" "00023887" "00" "1313" "0" "1313" "0" "c.1313A>G" "r.(?)" "p.(Asp438Gly)" "" ""
"0000171620" "00015048" "97" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Asp493Gly)" "16" "GTPase (exons 10-17)"
"0000171621" "00023887" "00" "1140" "0" "1140" "0" "c.1140G>A" "r.(?)" "p.(=)" "" ""
"0000171621" "00015048" "97" "1305" "0" "1305" "0" "c.1305G>A" "r.(?)" "p.(Leu411_Glu435del)" "13" "GTPase (exons 10-17)"
"0000171622" "00023887" "00" "2614" "-9" "2614" "-9" "c.2614-9A>G" "r.(?)" "p.(=)" "" ""
"0000171622" "00015048" "97" "2779" "-9" "2779" "-9" "c.2779-9A>G" "r.(?)" "p.(Leu927_Gln939del)" "27i" "Non-specific domain"
"0000171623" "00023887" "00" "2708" "-1" "2708" "-1" "c.2708-1G>T" "r.spl?" "p.?" "" ""
"0000171623" "00015048" "97" "2873" "-1" "2873" "-1" "c.2873-1G>T" "r.spl" "p.?" "28i" "Non-specific domain"
"0000171624" "00023887" "07" "1705" "1" "1705" "1" "c.1705+1G>T" "r.spl?" "p.?" "17i" ""
"0000171624" "00015048" "97" "1870" "1" "1870" "1" "c.1870+1G>T" "r.spl" "p.?" "19i" "Dynamin Central (exons 18-26)"
"0000171625" "00023887" "00" "2013" "0" "2013" "0" "c.2013G>A" "r.(?)" "p.(=)" "" ""
"0000171625" "00015048" "97" "2178" "0" "2178" "0" "c.2178G>A" "r.(?)" "p.(Glu726=)" "22" "Dynamin Central (exons 18-26)"
"0000171626" "00023887" "00" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl?" "p.?" "20i" ""
"0000171626" "00015048" "97" "2179" "-1" "2179" "-1" "c.2179-1G>A" "r.spl" "p.?" "22i" "Dynamin Central (exons 18-26)"
"0000171627" "00023887" "00" "1770" "0" "1770" "0" "c.1770G>C" "r.(?)" "p.(=)" "" ""
"0000171627" "00015048" "97" "1935" "0" "1935" "0" "c.1935G>C" "r.(?)" "p.(Arg645=)" "20" "Dynamin Central (exons 18-26)"
"0000171628" "00023887" "00" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Gln61*)" "" ""
"0000171628" "00015048" "97" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Gln61*)" "2" "Basic (exons 1-3)"
"0000171629" "00023887" "00" "728" "0" "728" "0" "c.728T>A" "r.(?)" "p.(Leu243*)" "" ""
"0000171629" "00015048" "97" "893" "0" "893" "0" "c.893T>A" "r.(?)" "p.(Leu298*)" "8" "Non-specific domain"
"0000171630" "00023887" "00" "1635" "0" "1635" "0" "c.1635C>A" "r.(?)" "p.(Ser545Arg)" "" ""
"0000171630" "00015048" "97" "1800" "0" "1800" "0" "c.1800C>A" "r.(?)" "p.(Ser600Arg)" "19" "Dynamin Central (exons 18-26)"
"0000171631" "00023887" "00" "2537" "0" "2537" "0" "c.2537dup" "r.(?)" "p.(Leu846Phefs*9)" "" ""
"0000171631" "00015048" "97" "2702" "0" "2702" "0" "c.2702dup" "r.(?)" "p.(Leu901Phefs*9)" "27" "Non-specific domain"
"0000171632" "00023887" "00" "2590" "0" "2590" "0" "c.2590dup" "r.(?)" "p.(Gln864Profs*8)" "" ""
"0000171632" "00015048" "97" "2755" "0" "2755" "0" "c.2755dup" "r.(?)" "p.(Gln919Profs*8)" "27" "Non-specific domain"
"0000171633" "00023887" "00" "946" "0" "946" "0" "c.946A>T" "r.(?)" "p.(Arg316*)" "" ""
"0000171633" "00015048" "97" "1111" "0" "1111" "0" "c.1111A>T" "r.(?)" "p.(Arg371*)" "11" "GTPase (exons 10-17)"
"0000171634" "00023887" "00" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312*)" "" ""
"0000171634" "00015048" "97" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367*)" "11" "GTPase (exons 10-17)"
"0000171635" "00023887" "00" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Ser64Leufs*2)" "" ""
"0000171635" "00015048" "97" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Ser64Leufs*2)" "2" "Basic (exons 1-3)"
"0000171636" "00023887" "00" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52*)" "" ""
"0000171636" "00015048" "97" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Arg52*)" "2" "Basic (exons 1-3)"
"0000171637" "00023887" "00" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" ""
"0000171637" "00015048" "97" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "2" "Basic (exons 1-3)"
"0000171638" "00023887" "00" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121*)" "" ""
"0000171638" "00015048" "97" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121*)" "3" "Basic (exons 1-3)"
"0000171639" "00023887" "00" "448" "2" "448" "2" "c.448+2T>G" "r.spl?" "p.?" "" ""
"0000171639" "00015048" "97" "448" "2" "448" "2" "c.448+2T>G" "r.spl" "p.?" "3i" "Basic (exons 1-3)"
"0000171640" "00023887" "00" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Leu222Pro)" "" ""
"0000171640" "00015048" "97" "830" "0" "830" "0" "c.830T>C" "r.(?)" "p.(Leu277Pro)" "8" "Non-specific domain"
"0000171641" "00023887" "00" "929" "0" "929" "0" "c.929A>G" "r.(?)" "p.(Gln310Arg)" "" ""
"0000171641" "00015048" "97" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Gln365Arg)" "11" "GTPase (exons 10-17)"
"0000171642" "00023887" "00" "1140" "5" "1140" "5" "c.1140+5G>C" "r.spl?" "p.?" "" ""
"0000171642" "00015048" "97" "1305" "5" "1305" "5" "c.1305+5G>C" "r.spl?" "p.?" "13i" "GTPase (exons 10-17)"
"0000171643" "00023887" "00" "784" "-1" "784" "-1" "c.784-1G>A" "r.spl?" "p.?" "" ""
"0000171643" "00015048" "97" "949" "-1" "949" "-1" "c.949-1G>A" "r.spl" "p.?" "9i" "Non-specific domain"
"0000171644" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171644" "00015048" "95" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000171645" "00023887" "00" "1212" "2" "1212" "2" "c.1212+2T>G" "r.spl?" "p.?" "" ""
"0000171645" "00015048" "97" "1377" "2" "1377" "2" "c.1377+2T>G" "r.spl" "p.?" "14i" "GTPase (exons 10-17)"
"0000171646" "00023887" "00" "1212" "5" "1212" "5" "c.1212+5G>C" "r.spl?" "p.?" "" ""
"0000171646" "00015048" "97" "1377" "5" "1377" "5" "c.1377+5G>C" "r.spl?" "p.?" "14i" "GTPase (exons 10-17)"
"0000171647" "00023887" "00" "1213" "-2" "1213" "-2" "c.1213-2A>G" "r.spl?" "p.?" "" ""
"0000171647" "00015048" "97" "1378" "-2" "1378" "-2" "c.1378-2A>G" "r.spl" "p.?" "14i" "GTPase (exons 10-17)"
"0000171648" "00023887" "00" "1315" "0" "1318" "0" "c.1315_1318del" "r.(?)" "p.(Gly439Leufs*27)" "" ""
"0000171648" "00015048" "97" "1480" "0" "1483" "0" "c.1480_1483del" "r.(?)" "p.(Gly494Leufs*27)" "16" "GTPase (exons 10-17)"
"0000171649" "00023887" "00" "1346" "0" "1346" "0" "c.1346C>G" "r.(?)" "p.(Thr449Arg)" "" ""
"0000171649" "00015048" "97" "1511" "0" "1511" "0" "c.1511C>G" "r.(?)" "p.(Thr504Arg)" "16" "GTPase (exons 10-17)"
"0000171650" "00023887" "00" "1313" "-1" "1313" "-1" "c.1313-1G>A" "r.spl?" "p.?" "" ""
"0000171650" "00015048" "97" "1478" "-1" "1478" "-1" "c.1478-1G>A" "r.spl" "p.?" "15i" "GTPase (exons 10-17)"
"0000171651" "00023887" "00" "1444" "-1" "1444" "-1" "c.1444-1G>C" "r.spl?" "p.?" "" ""
"0000171651" "00015048" "97" "1609" "-1" "1609" "-1" "c.1609-1G>C" "r.spl" "p.?" "16i" "GTPase (exons 10-17)"
"0000171652" "00023887" "00" "1474" "0" "1475" "0" "c.1474_1475delinsTA" "r.(?)" "p.(Pro492*)" "" ""
"0000171652" "00015048" "97" "1639" "0" "1640" "0" "c.1639_1640delinsTA" "r.(?)" "p.(Pro547*)" "17" "GTPase (exons 10-17)"
"0000171653" "00023887" "00" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" ""
"0000171653" "00015048" "97" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Glu542Lys)" "17" "GTPase (exons 10-17)"
"0000171654" "00023887" "00" "1497" "0" "1497" "0" "c.1497del" "r.(?)" "p.(Phe499Leufs*4)" "" ""
"0000171654" "00015048" "97" "1662" "0" "1662" "0" "c.1662del" "r.(?)" "p.(Phe554Leufs*4)" "17" "GTPase (exons 10-17)"
"0000171655" "00023887" "00" "1515" "0" "1515" "0" "c.1515A>G" "r.(?)" "p.(=)" "" ""
"0000171655" "00015048" "97" "1680" "0" "1680" "0" "c.1680A>G" "r.(?)" "p.(Lys560=)" "17" "GTPase (exons 10-17)"
"0000171656" "00023887" "00" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Gln483*)" "" ""
"0000171656" "00015048" "97" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Gln538*)" "17" "GTPase (exons 10-17)"
"0000171657" "00023887" "00" "1571" "0" "1571" "0" "c.1571del" "r.(?)" "p.(Gln524Argfs*6)" "" ""
"0000171657" "00015048" "97" "1736" "0" "1736" "0" "c.1736del" "r.(?)" "p.(Gln579Argfs*6)" "18" "Dynamin Central (exons 18-26)"
"0000171658" "00023887" "00" "1560" "0" "1562" "0" "c.1560_1562del" "r.(?)" "p.(Glu521del)" "" ""
"0000171658" "00015048" "97" "1725" "0" "1727" "0" "c.1725_1727del" "r.(?)" "p.(Glu576del)" "18" "Dynamin Central (exons 18-26)"
"0000171659" "00023887" "00" "1667" "0" "1668" "0" "c.1667_1668dup" "r.(?)" "p.(Arg557Tyrfs*53)" "" ""
"0000171659" "00015048" "97" "1832" "0" "1833" "0" "c.1832_1833dup" "r.(?)" "p.(Arg612Tyrfs*53)" "19" "Dynamin Central (exons 18-26)"
"0000171660" "00023887" "00" "1635" "0" "1635" "0" "c.1635C>G" "r.(?)" "p.(Ser545Arg)" "" ""
"0000171660" "00015048" "97" "1800" "0" "1800" "0" "c.1800C>G" "r.(?)" "p.(Ser600Arg)" "19" "Dynamin Central (exons 18-26)"
"0000171661" "00023887" "00" "1770" "1" "1770" "1" "c.1770+1del" "r.spl?" "p.?" "" ""
"0000171661" "00015048" "97" "1935" "1" "1935" "1" "c.1935+1del" "r.(?)" "p.(Asn646Metfs*18)" "20" "Dynamin Central (exons 18-26)"
"0000171662" "00023887" "00" "1770" "0" "1770" "0" "c.1770G>T" "r.(?)" "p.(=)" "" ""
"0000171662" "00015048" "97" "1935" "0" "1935" "0" "c.1935G>T" "r.(?)" "p.(Arg645=)" "20" "Dynamin Central (exons 18-26)"
"0000171663" "00023887" "00" "1833" "0" "1836" "0" "c.1833_1836del" "r.(?)" "p.(Thr612Glnfs*20)" "" ""
"0000171663" "00015048" "97" "1998" "0" "2001" "0" "c.1998_2001del" "r.(?)" "p.(Thr667Glnfs*20)" "21" "Dynamin Central (exons 18-26)"
"0000171664" "00023887" "00" "1847" "1" "1847" "5" "c.1847+1_1847+5del" "r.spl?" "p.?" "" ""
"0000171664" "00015048" "97" "2012" "1" "2012" "5" "c.2012+1_2012+5del" "r.spl" "p.?" "20i_21" "Dynamin Central (exons 18-26)"
"0000171665" "00023887" "00" "1847" "1" "1847" "1" "c.1847+1G>T" "r.spl?" "p.?" "" ""
"0000171665" "00015048" "97" "2012" "1" "2012" "1" "c.2012+1G>T" "r.spl" "p.?" "21i" "Dynamin Central (exons 18-26)"
"0000171666" "00023887" "00" "1848" "0" "1848" "0" "c.1848G>A" "r.(?)" "p.(Trp616*)" "" ""
"0000171666" "00015048" "97" "2013" "0" "2013" "0" "c.2013G>A" "r.(?)" "p.(Trp671*)" "22" "Dynamin Central (exons 18-26)"
"0000171667" "00023887" "00" "1879" "0" "1879" "0" "c.1879A>T" "r.(?)" "p.(Arg627*)" "" ""
"0000171667" "00015048" "97" "2044" "0" "2044" "0" "c.2044A>T" "r.(?)" "p.(Arg682*)" "22" "Dynamin Central (exons 18-26)"
"0000171668" "00023887" "00" "1891" "0" "1892" "0" "c.1891_1892insN[41]" "r.spl" "p.?" "20" ""
"0000171668" "00015048" "97" "2056" "0" "2057" "0" "c.2056_2057insN[41]" "r.spl" "p.?" "22" "Dynamin Central (exons 18-26)"
"0000171669" "00023887" "00" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Ser646Leu)" "" ""
"0000171669" "00015048" "97" "2102" "0" "2102" "0" "c.2102C>T" "r.(?)" "p.(Ser701Leu)" "22" "Dynamin Central (exons 18-26)"
"0000171670" "00023887" "00" "1892" "0" "1893" "0" "c.1892_1893del" "r.(?)" "p.(His631Argfs*3)" "" ""
"0000171670" "00015048" "97" "2057" "0" "2058" "0" "c.2057_2058del" "r.(?)" "p.(His686Argfs*3)" "22" "Dynamin Central (exons 18-26)"
"0000171671" "00023887" "00" "2013" "1" "2013" "1" "c.2013+1G>T" "r.spl?" "p.?" "" ""
"0000171671" "00015048" "97" "2178" "1" "2178" "1" "c.2178+1G>T" "r.spl" "p.?" "22i" "Dynamin Central (exons 18-26)"
"0000171672" "00023887" "00" "1848" "-1" "1848" "-1" "c.1848-1G>A" "r.spl?" "p.?" "" ""
"0000171672" "00015048" "97" "2013" "-1" "2013" "-1" "c.2013-1G>A" "r.spl" "p.?" "21i" "Dynamin Central (exons 18-26)"
"0000171673" "00023887" "00" "2059" "0" "2060" "0" "c.2059_2060del" "r.(?)" "p.(Glu687Thrfs*7)" "" ""
"0000171673" "00015048" "97" "2224" "0" "2225" "0" "c.2224_2225del" "r.(?)" "p.(Glu742Thrfs*7)" "23" "Dynamin Central (exons 18-26)"
"0000171674" "00023887" "00" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "" ""
"0000171674" "00015048" "97" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" "Dynamin Central (exons 18-26)"
"0000171675" "00023887" "00" "2303" "0" "2303" "0" "c.2303G>A" "r.(?)" "p.(Gly768Asp)" "" ""
"0000171675" "00015048" "97" "2468" "0" "2468" "0" "c.2468G>A" "r.(?)" "p.(Gly823Asp)" "25" "Dynamin Central (exons 18-26)"
"0000171676" "00023887" "00" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781Trp)" "" ""
"0000171676" "00015048" "97" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Arg836Trp)" "25" "Dynamin Central (exons 18-26)"
"0000171677" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171677" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171678" "00023887" "00" "2496" "2" "2496" "2" "c.2496+2T>C" "r.spl?" "p.?" "" ""
"0000171678" "00015048" "97" "2661" "2" "2661" "2" "c.2661+2T>C" "r.spl" "p.?" "26i" "Dynamin Central (exons 18-26)"
"0000171679" "00023887" "00" "2496" "1" "2496" "1" "c.2496+1G>T" "r.spl?" "p.?" "" ""
"0000171679" "00015048" "97" "2661" "1" "2661" "1" "c.2661+1G>T" "r.spl" "p.?" "26i" "Dynamin Central (exons 18-26)"
"0000171680" "00023887" "00" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864*)" "" ""
"0000171680" "00015048" "97" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Gln919*)" "27" "Non-specific domain"
"0000171681" "00023887" "00" "2650" "0" "2650" "0" "c.2650C>T" "r.(?)" "p.(Gln884*)" "" ""
"0000171681" "00015048" "97" "2815" "0" "2815" "0" "c.2815C>T" "r.(?)" "p.(Gln939*)" "28" "Non-specific domain"
"0000171682" "00023887" "00" "2645" "0" "2645" "0" "c.2645G>T" "r.(?)" "p.(Arg882Leu)" "" ""
"0000171682" "00015048" "97" "2810" "0" "2810" "0" "c.2810G>T" "r.(?)" "p.(Arg937Leu)" "28" "Non-specific domain"
"0000171683" "00023887" "00" "2818" "2" "2818" "2" "c.2818+2T>C" "r.spl?" "p.?" "" ""
"0000171683" "00015048" "97" "2983" "2" "2983" "2" "c.2983+2T>C" "r.spl" "p.?" "29i" "Putative GED (exons 29-30)"
"0000171684" "00023887" "00" "2846" "0" "2846" "0" "c.2846T>C" "r.(?)" "p.(Leu949Pro)" "" ""
"0000171684" "00015048" "97" "3011" "0" "3011" "0" "c.3011T>C" "r.(?)" "p.(Leu1004Pro)" "30" "Putative GED (exons 29-30)"
"0000171685" "00023887" "00" "1706" "-1" "1706" "-1" "c.1706-1G>A" "r.spl?" "p.?" "" ""
"0000171685" "00015048" "97" "1871" "-1" "1871" "-1" "c.1871-1G>A" "r.spl" "p.?" "19i" "Dynamin Central (exons 18-26)"
"0000171686" "00023887" "00" "1770" "2" "1770" "2" "c.1770+2T>C" "r.spl?" "p.?" "" ""
"0000171686" "00015048" "97" "1935" "2" "1935" "2" "c.1935+2T>C" "r.spl" "p.?" "20i" "Dynamin Central (exons 18-26)"
"0000171687" "00023887" "00" "1771" "-2" "1771" "-2" "c.1771-2A>G" "r.spl?" "p.?" "" ""
"0000171687" "00015048" "97" "1936" "-2" "1936" "-2" "c.1936-2A>G" "r.spl" "p.?" "20i" "Dynamin Central (exons 18-26)"
"0000171688" "00023887" "00" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" ""
"0000171688" "00015048" "97" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "2" "Basic (exons 1-3)"
"0000171689" "00023887" "00" "878" "0" "883" "0" "c.878_883del" "r.(?)" "p.(Val293_Val294del)" "" ""
"0000171689" "00015048" "97" "1043" "0" "1048" "0" "c.1043_1048del" "r.(?)" "p.(Val348_Val349del)" "11" "GTPase (exons 10-17)"
"0000171690" "00023887" "00" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Ala357Thr)" "" ""
"0000171690" "00015048" "97" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Ala412Thr)" "13" "GTPase (exons 10-17)"
"0000171691" "00023887" "00" "1187" "0" "1187" "0" "c.1187T>C" "r.(?)" "p.(Leu396Pro)" "" ""
"0000171691" "00015048" "97" "1352" "0" "1352" "0" "c.1352T>C" "r.(?)" "p.(Leu451Pro)" "14" "GTPase (exons 10-17)"
"0000171692" "00023887" "00" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Asn430Asp)" "" ""
"0000171692" "00015048" "97" "1453" "0" "1453" "0" "c.1453A>G" "r.(?)" "p.(Asn485Asp)" "15" "GTPase (exons 10-17)"
"0000171693" "00023887" "00" "1285" "0" "1290" "0" "c.1285_1290del" "r.(?)" "p.(Pro429_Asn430del)" "" ""
"0000171693" "00015048" "97" "1450" "0" "1455" "0" "c.1450_1455del" "r.(?)" "p.(Pro484_Asn485del)" "15" "GTPase (exons 10-17)"
"0000171694" "00023887" "00" "1387" "0" "1392" "0" "c.1387_1392dup" "r.(?)" "p.(Ile463_Phe464dup)" "" ""
"0000171694" "00015048" "97" "1552" "0" "1557" "0" "c.1552_1557dup" "r.(?)" "p.(Ile518_Phe519dup)" "16" "GTPase (exons 10-17)"
"0000171695" "00023887" "00" "1444" "-1" "1444" "-1" "c.1444-1G>T" "r.spl?" "p.?" "" ""
"0000171695" "00015048" "97" "1609" "-1" "1609" "-1" "c.1609-1G>T" "r.spl" "p.?" "16i" "GTPase (exons 10-17)"
"0000171696" "00023887" "00" "1652" "0" "1652" "0" "c.1652G>A" "r.(?)" "p.(Cys551Tyr)" "" ""
"0000171696" "00015048" "97" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Cys606Tyr)" "19" "Dynamin Central (exons 18-26)"
"0000171697" "00023887" "00" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590Gln)" "" ""
"0000171697" "00015048" "97" "1934" "0" "1934" "0" "c.1934G>A" "r.(?)" "p.(Arg645Gln)" "20" "Dynamin Central (exons 18-26)"
"0000171698" "00023887" "00" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Trp616*)" "" ""
"0000171698" "00015048" "97" "2012" "0" "2012" "0" "c.2012G>A" "r.(?)" "p.(Trp671*)" "21" "Dynamin Central (exons 18-26)"
"0000171699" "00023887" "00" "2468" "0" "2468" "0" "c.2468C>A" "r.(?)" "p.(Ser823Tyr)" "" ""
"0000171699" "00015048" "97" "2633" "0" "2633" "0" "c.2633C>A" "r.(?)" "p.(Ser878Tyr)" "26" "Dynamin Central (exons 18-26)"
"0000171700" "00023887" "00" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Arg857*)" "" ""
"0000171700" "00015048" "97" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912*)" "27" "Non-specific domain"
"0000171701" "00023887" "00" "2614" "-1" "2614" "-1" "c.2614-1G>A" "r.spl?" "p.?" "" ""
"0000171701" "00015048" "97" "2779" "-1" "2779" "-1" "c.2779-1G>A" "r.spl" "p.?" "27i" "Non-specific domain"
"0000171702" "00023887" "00" "2707" "2" "2707" "2" "c.2707+2T>G" "r.spl?" "p.?" "" ""
"0000171702" "00015048" "97" "2872" "2" "2872" "2" "c.2872+2T>G" "r.spl" "p.?" "28i" "Non-specific domain"
"0000171703" "00023887" "00" "2725" "0" "2726" "0" "c.2725_2726del" "r.(?)" "p.(Asn909Cysfs*2)" "" ""
"0000171703" "00015048" "97" "2890" "0" "2891" "0" "c.2890_2891del" "r.(?)" "p.(Asn964Cysfs*2)" "29" "Putative GED (exons 29-30)"
"0000171704" "00023887" "00" "1316" "0" "1316" "0" "c.1316G>T" "r.(?)" "p.(Gly439Val)" "" ""
"0000171704" "00015048" "97" "1481" "0" "1481" "0" "c.1481G>T" "r.(?)" "p.(Gly494Val)" "16" "GTPase (exons 10-17)"
"0000171705" "00023887" "00" "625" "-5459" "625" "-5459" "c.625-5459G>A" "" "p.(=)" "" ""
"0000171705" "00015048" "97" "740" "0" "740" "0" "c.740G>A" "" "p.(Arg247His)" "7" "Non-specific domain"
"0000171706" "00023887" "00" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "" ""
"0000171706" "00015048" "97" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38*)" "2" "Basic (exons 1-3)"
"0000171707" "00023887" "00" "870" "1" "870" "1" "c.870+1G>T" "r.spl?" "p.?" "" ""
"0000171707" "00015048" "97" "1035" "1" "1035" "1" "c.1035+1G>T" "r.spl" "p.?" "10i" "GTPase (exons 10-17)"
"0000171708" "00023887" "00" "984" "1" "984" "5" "c.984+1_984+5del" "r.spl?" "p.?" "" ""
"0000171708" "00015048" "97" "1149" "1" "1149" "5" "c.1149+1_1149+5del" "r.spl" "p.?" "11_11i" "GTPase (exons 10-17)"
"0000171709" "00023887" "00" "871" "-1" "871" "-1" "c.871-1G>A" "r.spl?" "p.?" "" ""
"0000171709" "00015048" "97" "1036" "-1" "1036" "-1" "c.1036-1G>A" "r.spl" "p.?" "10i" "GTPase (exons 10-17)"
"0000171710" "00023887" "00" "1847" "4" "1847" "7" "c.1847+4_1847+7del" "r.spl?" "p.?" "" ""
"0000171710" "00015048" "97" "2012" "4" "2012" "7" "c.2012+4_2012+7del" "r.spl?" "p.?" "21i" "Dynamin Central (exons 18-26)"
"0000171711" "00023887" "00" "1065" "2" "1065" "2" "c.1065+2T>G" "r.spl?" "p.?" "" ""
"0000171711" "00015048" "97" "1230" "2" "1230" "2" "c.1230+2T>G" "r.spl" "p.?" "12i" "GTPase (exons 10-17)"
"0000171712" "00023887" "00" "2355" "1" "2355" "1" "c.2355+1G>A" "r.spl?" "p.?" "" ""
"0000171712" "00015048" "97" "2520" "1" "2520" "1" "c.2520+1G>A" "r.spl" "p.?" "25i" "Dynamin Central (exons 18-26)"
"0000171713" "00023887" "00" "2496" "4" "2496" "4" "c.2496+4A>G" "r.spl?" "p.?" "" ""
"0000171713" "00015048" "97" "2661" "4" "2661" "4" "c.2661+4A>G" "r.spl?" "p.?" "26i" "Dynamin Central (exons 18-26)"
"0000171714" "00023887" "00" "2660" "0" "2660" "0" "c.2660T>C" "r.(?)" "p.(Leu887Pro)" "" ""
"0000171714" "00015048" "97" "2825" "0" "2825" "0" "c.2825T>C" "r.(?)" "p.(Leu942Pro)" "28" "Non-specific domain"
"0000171715" "00023887" "00" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Leu593Pro)" "" ""
"0000171715" "00015048" "97" "1943" "0" "1943" "0" "c.1943T>C" "r.(?)" "p.(Leu648Pro)" "21" "Dynamin Central (exons 18-26)"
"0000171716" "00023887" "00" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Cys)" "" ""
"0000171716" "00015048" "97" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987Cys)" "29" "Putative GED (exons 29-30)"
"0000171717" "00023887" "00" "2848" "0" "2849" "0" "c.2848_2849del" "r.(?)" "p.(Asp950Cysfs*4)" "" ""
"0000171717" "00015048" "97" "3013" "0" "3014" "0" "c.3013_3014del" "r.(?)" "p.(Asp1005Cysfs*4)" "30" "Putative GED (exons 29-30)"
"0000171718" "00023887" "00" "631" "0" "634" "0" "c.631_634del" "r.(?)" "p.(Asp211Lysfs*16)" "" ""
"0000171718" "00015048" "97" "796" "0" "799" "0" "c.796_799del" "r.(?)" "p.(Asp266Lysfs*16)" "8" "Non-specific domain"
"0000171719" "00023887" "00" "937" "0" "938" "0" "c.937_938delinsGA" "r.(?)" "p.(Ile313Glu)" "" ""
"0000171719" "00015048" "97" "1102" "0" "1103" "0" "c.1102_1103delinsGA" "r.(?)" "p.(Ile368Glu)" "11" "GTPase (exons 10-17)"
"0000171720" "00023887" "00" "1126" "0" "1126" "0" "c.1126A>G" "r.(?)" "p.(Thr376Ala)" "" ""
"0000171720" "00015048" "97" "1291" "0" "1291" "0" "c.1291A>G" "r.(?)" "p.(Thr431Ala)" "13" "GTPase (exons 10-17)"
"0000171721" "00023887" "00" "1410" "0" "1443" "4" "c.1410_1443+4del" "r.spl?" "p.?" "" ""
"0000171721" "00015048" "97" "1575" "0" "1608" "4" "c.1575_1608+4del" "r.spl" "p.(Asp525fs)" "16_16i" "GTPase (exons 10-17)"
"0000171722" "00023887" "00" "1777" "0" "1779" "0" "c.1777_1779del" "r.(?)" "p.(Leu593del)" "" ""
"0000171722" "00015048" "97" "1942" "0" "1944" "0" "c.1942_1944del" "r.(?)" "p.(Leu648del)" "21" "Dynamin Central (exons 18-26)"
"0000171723" "00023887" "00" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ala115Val)" "" ""
"0000171723" "00015048" "97" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ala115Val)" "2" "Basic (exons 1-3)"
"0000171724" "00023887" "00" "625" "-5431" "625" "-5431" "c.625-5431C>G" "" "p.(=)" "" ""
"0000171724" "00015048" "13" "768" "0" "768" "0" "c.768C>G" "" "p.(Ser256Arg)" "7" "Non-specific domain"
"0000171725" "00023887" "00" "625" "-5431" "625" "-5431" "c.625-5431C>G" "" "p.(=)" "" ""
"0000171725" "00015048" "13" "768" "0" "768" "0" "c.768C>G" "" "p.(Ser256Arg)" "7" "Non-specific domain"
"0000171726" "00023887" "93" "1071" "0" "1071" "0" "c.1071A>G" "r.(=)" "p.(=)" "" ""
"0000171726" "00015048" "93" "1236" "0" "1236" "0" "c.1236A>G" "r.(=)" "p.(=)" "13" "GTPase (exons 10-17)"
"0000171727" "00023887" "00" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Ala443Thr)" "" ""
"0000171727" "00015048" "97" "1492" "0" "1492" "0" "c.1492G>A" "r.(?)" "p.(Ala498Thr)" "16" "GTPase (exons 10-17)"
"0000171728" "00023887" "00" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Gly488Arg)" "" ""
"0000171728" "00015048" "97" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Gly543Arg)" "17" "GTPase (exons 10-17)"
"0000171729" "00023887" "00" "635" "0" "636" "0" "c.635_636del" "r.(?)" "p.(Lys212Argfs*4)" "" ""
"0000171729" "00015048" "97" "800" "0" "801" "0" "c.800_801del" "r.(?)" "p.(Lys267Argfs*4)" "8" "Non-specific domain"
"0000171730" "00023887" "00" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "" ""
"0000171730" "00015048" "97" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Ala550Val)" "17" "GTPase (exons 10-17)"
"0000171731" "00023887" "00" "876" "0" "878" "0" "c.876_878del" "r.(?)" "p.(Val294del)" "" ""
"0000171731" "00015048" "97" "1041" "0" "1043" "0" "c.1041_1043del" "r.(?)" "p.(Val349del)" "11" "GTPase (exons 10-17)"
"0000171732" "00023887" "00" "2818" "5" "2818" "5" "c.2818+5G>A" "r.spl?" "p.?" "" ""
"0000171732" "00015048" "97" "2983" "5" "2983" "5" "c.2983+5G>A" "r.spl?" "p.?" "29i" "Putative GED (exons 29-30)"
"0000171733" "00023887" "00" "639" "0" "640" "0" "c.639_640del" "r.(?)" "p.(Lys214Asnfs*2)" "" ""
"0000171733" "00015048" "97" "804" "0" "805" "0" "c.804_805del" "r.(?)" "p.(Lys269Asnfs*2)" "8" "Non-specific domain"
"0000171734" "00023887" "00" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Gln297*)" "" ""
"0000171734" "00015048" "97" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Gln352*)" "11" "GTPase (exons 10-17)"
"0000171735" "00023887" "00" "1198" "0" "1198" "0" "c.1198C>T" "r.(?)" "p.(Pro400Ser)" "" ""
"0000171735" "00015048" "97" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Pro455Ser)" "14" "GTPase (exons 10-17)"
"0000171736" "00023887" "00" "-1" "0" "624" "1" "c.(?_-1)_(624+1_625-1)del" "r.0?" "p.0?" "" ""
"0000171736" "00015048" "97" "-1" "0" "678" "1" "c.(?_-1)_(678+1_679-1)del" "r.0?" "p.0?" "_1_6i" "Basic (exons 1-3)"
"0000171737" "00023887" "00" "2356" "-586" "2497" "-616" "c.2356-586_2497-616del" "" "p.(Cys786_Leu832del)" "" ""
"0000171737" "00015048" "97" "2521" "-586" "2662" "-616" "c.2521-586_2662-616del" "r.?" "p.(Cys841_Leu887del)" "25i_26i" "Dynamin Central (exons 18-26)"
"0000171738" "00023887" "90" "0" "0" "0" "0" "c.-234_(2818+1_2819-1){0}" "r.0?" "p.0?" "_1_27i" ""
"0000171738" "00015048" "97" "-1" "0" "2983" "1" "c.(?_-1)_(2983+1_2984-1)del" "r.0?" "p.0?" "_1_29i" "Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)"
"0000171739" "00015048" "97" "1149" "2020" "1149" "2021" "c.1149+2020_1149+2021insGCAins843+674_1149+2020" "r.?" "p.?" "8i_11i" "GTPase (exons 10-17)"
"0000171740" "00023887" "00" "-1" "0" "6094" "0" "c.(?_-1)_(*3211_?)del" "r.0?" "p.0?" "" ""
"0000171740" "00015048" "97" "-1" "0" "6259" "0" "c.(?_-1)_(*3211_?)del" "r.0?" "p.0?" "_1_31_" "Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)"
"0000171741" "00023887" "00" "871" "-162" "985" "-1789" "c.871-162_985-1789delinsGTGATTGATGCA" "r.?" "p.?" "" ""
"0000171741" "00015048" "97" "1036" "-162" "1150" "-1789" "c.1036-162_1150-1789delinsGTGATTGATGCA" "r.?" "p.?" "10i_11i" "GTPase (exons 10-17)"
"0000171742" "00023887" "00" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Ser269Phe)" "" ""
"0000171742" "00015048" "77" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ser324Phe)" "10" "GTPase (exons 10-17)"
"0000171743" "00023887" "00" "33" "-1" "2818" "1" "c.(32+1_33-1)_(2818+1_2819-1)dup" "r.?" "p.?" "" ""
"0000171743" "00015048" "77" "33" "-1" "2983" "1" "c.(32+1_33-1)_(2983+1_2984-1)dup" "r.?" "p.?" "1i_29i" "Basic (exons 1-3), GTPase (exons 10-17), Dynamin Central (exons 18-26), Putative GED (exons 29-30)"
"0000171744" "00023887" "00" "2631" "0" "2633" "0" "c.2631_2633del" "r.(?)" "p.(Val878del)" "" ""
"0000171744" "00015048" "55" "2796" "0" "2798" "0" "c.2796_2798del" "r.(?)" "p.(Val933del)" "28" "Non-specific domain"
"0000171745" "00023887" "00" "2641" "0" "2641" "0" "c.2641dup" "r.(?)" "p.(Trp881Leufs*22)" "" ""
"0000171745" "00015048" "97" "2806" "0" "2806" "0" "c.2806dup" "r.(?)" "p.(Trp936fs)" "28" "Non-specific domain"
"0000171746" "00023887" "00" "1412" "0" "1412" "0" "c.1412T>C" "r.(?)" "p.(Leu471Pro)" "" ""
"0000171746" "00015048" "55" "1577" "0" "1577" "0" "c.1577T>C" "r.(?)" "p.(Leu526Pro)" "16" "GTPase (exons 10-17)"
"0000171747" "00023887" "00" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" ""
"0000171747" "00015048" "97" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Tyr323Cys)" "10" "GTPase (exons 10-17)"
"0000171748" "00023887" "00" "870" "2" "870" "2" "c.870+2T>A" "r.spl?" "p.?" "" ""
"0000171748" "00015048" "75" "1035" "2" "1035" "2" "c.1035+2T>A" "r.spl" "p.?" "10i" "Non-specific domain"
"0000171749" "00023887" "00" "449" "-1" "870" "1" "c.(448+1_449-1)_(870+1_871-1)dup" "r.?" "p.?" "" ""
"0000171749" "00015048" "75" "449" "-1" "1035" "1" "c.(448+1_449-1)_(1035+1_1036-1)dup" "r.?" "p.?" "3i_10i" "GTPase (exons 10-17)"
"0000171750" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171750" "00015048" "55" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000171751" "00023887" "00" "557" "-672" "557" "-672" "c.557-672G>A" "r.(?)" "p.(=)" "" ""
"0000171751" "00015048" "97" "610" "360" "610" "360" "c.610+360G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171752" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171752" "00015048" "55" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000171753" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171753" "00015048" "55" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000171754" "00023887" "00" "557" "-672" "557" "-672" "c.557-672G>A" "r.(?)" "p.(=)" "" ""
"0000171754" "00015048" "97" "610" "360" "610" "360" "c.610+360G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171755" "00023887" "00" "557" "-672" "557" "-672" "c.557-672G>A" "r.(?)" "p.(=)" "" ""
"0000171755" "00015048" "97" "610" "360" "610" "360" "c.610+360G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171756" "00023887" "00" "557" "-672" "557" "-672" "c.557-672G>A" "r.(?)" "p.(=)" "" ""
"0000171756" "00015048" "97" "610" "360" "610" "360" "c.610+360G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171757" "00023887" "00" "557" "-668" "557" "-668" "c.557-668G>A" "r.(?)" "p.(=)" "" ""
"0000171757" "00015048" "97" "610" "364" "610" "364" "c.610+364G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171758" "00023887" "00" "2819" "-1" "2821" "0" "c.2819-1_2821del" "r.spl?" "p.?" "" ""
"0000171758" "00015048" "97" "2984" "-1" "2986" "0" "c.2984-1_2986del" "r.spl" "p.?" "29i_30" "Putative GED (exons 29-30)"
"0000171759" "00023887" "00" "985" "-2" "985" "-2" "c.985-2A>G" "r.spl?" "p.?" "" ""
"0000171759" "00015048" "97" "1150" "-2" "1150" "-2" "c.1150-2A>G" "r.spl" "p.?" "11i" "GTPase (exons 10-17)"
"0000171760" "00023887" "00" "1345" "0" "1345" "0" "c.1345A>C" "r.(?)" "p.(Thr449Pro)" "" ""
"0000171760" "00015048" "97" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Thr504Pro)" "16" "GTPase (exons 10-17)"
"0000171761" "00023887" "00" "1345" "0" "1345" "0" "c.1345A>C" "r.(?)" "p.(Thr449Pro)" "" ""
"0000171761" "00015048" "95" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Thr504Pro)" "16" "GTPase (exons 10-17)"
"0000171762" "00023887" "00" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" ""
"0000171762" "00015048" "79" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED (exons 29-30)"
"0000171763" "00023887" "00" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" ""
"0000171763" "00015048" "79" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED (exons 29-30)"
"0000171764" "00023887" "00" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" ""
"0000171764" "00015048" "79" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED (exons 29-30)"
"0000171765" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171765" "00015048" "35" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000171766" "00023887" "00" "356" "0" "357" "0" "c.356_357del" "r.(?)" "p.(Phe119*)" "" ""
"0000171766" "00015048" "77" "356" "0" "357" "0" "c.356_357del" "r.(?)" "p.(Phe119*)" "3" "Basic (exons 1-3)"
"0000171767" "00023887" "00" "984" "1" "984" "1" "c.984+1G>T" "r.spl?" "p.?" "" ""
"0000171767" "00015048" "75" "1149" "1" "1149" "1" "c.1149+1G>T" "r.spl" "p.?" "11i" "GTPase (exons 10-17)"
"0000171768" "00023887" "00" "1140" "1" "1140" "1" "c.1140+1G>T" "r.spl?" "p.?" "" ""
"0000171768" "00015048" "77" "1305" "1" "1305" "1" "c.1305+1G>T" "r.spl" "p.?" "13i" "GTPase (exons 10-17)"
"0000171769" "00023887" "00" "1313" "0" "1313" "0" "c.1313A>C" "r.(?)" "p.(Asp438Ala)" "" ""
"0000171769" "00015048" "75" "1478" "0" "1478" "0" "c.1478A>C" "r.(?)" "p.(Asp493Ala)" "16" "GTPase (exons 10-17)"
"0000171770" "00023887" "00" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Gly459Glu)" "" ""
"0000171770" "00015048" "75" "1541" "0" "1541" "0" "c.1541G>A" "r.(?)" "p.(Gly514Glu)" "16" "GTPase (exons 10-17)"
"0000171771" "00023887" "00" "1544" "0" "1545" "0" "c.1544_1545del" "r.(?)" "p.(Ile515Lysfs*4)" "" ""
"0000171771" "00015048" "77" "1709" "0" "1710" "0" "c.1709_1710del" "r.(?)" "p.(Ile570Lysfs*4)" "18" "Dynamin Central (exons 18-26)"
"0000171772" "00023887" "00" "1665" "0" "1666" "0" "c.1665_1666insA" "r.(?)" "p.(Val556Serfs*6)" "" ""
"0000171772" "00015048" "77" "1830" "0" "1831" "0" "c.1830_1831insA" "r.(?)" "p.(Val611Serfs*6)" "19" "Dynamin Central (exons 18-26)"
"0000171773" "00023887" "00" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Gln563*)" "" ""
"0000171773" "00015048" "77" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Gln618*)" "19" "Dynamin Central (exons 18-26)"
"0000171774" "00023887" "00" "1983" "0" "1985" "0" "c.1983_1985delinsGG" "r.(?)" "p.(Asp662Valfs*9)" "" ""
"0000171774" "00015048" "77" "2148" "0" "2150" "0" "c.2148_2150delinsGG" "r.(?)" "p.(Asp717Valfs*9)" "22" "Dynamin Central (exons 18-26)"
"0000171775" "00023887" "00" "2013" "1" "2013" "1" "c.2013+1G>C" "r.spl?" "p.?" "" ""
"0000171775" "00015048" "77" "2178" "1" "2178" "1" "c.2178+1G>C" "r.spl" "p.?" "22i" "Dynamin Central (exons 18-26)"
"0000171776" "00023887" "00" "2496" "4" "2496" "5" "c.2496+4_2496+5delinsGTAAC" "r.spl?" "p.?" "" ""
"0000171776" "00015048" "75" "2661" "4" "2661" "5" "c.2661+4_2661+5delinsGTAAC" "r.spl" "p.?" "26i" "Dynamin Central (exons 18-26)"
"0000171777" "00023887" "00" "2496" "0" "2496" "0" "c.2496G>C" "r.(?)" "p.(Leu832Phe)" "" ""
"0000171777" "00015048" "75" "2661" "0" "2661" "0" "c.2661G>C" "r.(?)" "p.(Leu887Phe)" "26" "Dynamin Central (exons 18-26)"
"0000171778" "00023887" "00" "2613" "1" "2613" "1" "c.2613+1G>C" "r.spl?" "p.?" "" ""
"0000171778" "00015048" "55" "2778" "1" "2778" "1" "c.2778+1G>C" "r.spl" "p.?" "27i" "Non-specific domain"
"0000171779" "00023887" "00" "2707" "1" "2707" "1" "c.2707+1G>C" "r.spl?" "p.?" "" ""
"0000171779" "00015048" "75" "2872" "1" "2872" "1" "c.2872+1G>C" "r.spl" "p.?" "28i" "Non-specific domain"
"0000171780" "00023887" "00" "2728" "0" "2730" "0" "c.2728_2730del" "r.(?)" "p.(Val910del)" "" ""
"0000171780" "00015048" "75" "2893" "0" "2895" "0" "c.2893_2895del" "r.(?)" "p.(Val965del)" "29" "Putative GED (exons 29-30)"
"0000171781" "00023887" "97" "1198" "0" "1198" "0" "c.1198C>G" "r.(?)" "p.(Pro400Ala)" "12" ""
"0000171781" "00015048" "97" "1363" "0" "1363" "0" "c.1363C>G" "r.(?)" "p.(Pro455Ala)" "14" "GTPase (exons 10-17)"
"0000171782" "00023887" "00" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Ser646Leu)" "" ""
"0000171782" "00015048" "75" "2102" "0" "2102" "0" "c.2102C>T" "r.(?)" "p.(Ser701Leu)" "22" "Dynamin Central (exons 18-26)"
"0000171783" "00023887" "00" "2823" "0" "2823" "0" "c.2823dup" "r.(?)" "p.(Val942Serfs*2)" "" ""
"0000171783" "00015048" "97" "2988" "0" "2988" "0" "c.2988dup" "r.(?)" "p.(Val997Serfs*2)" "30" "Putative GED (exons 29-30)"
"0000171784" "00023887" "00" "871" "-1" "871" "-1" "c.871-1G>A" "r.spl?" "p.?" "" ""
"0000171784" "00015048" "97" "1036" "-1" "1036" "-1" "c.1036-1G>A" "r.spl" "p.?" "10i" "GTPase (exons 10-17)"
"0000171785" "00023887" "00" "892" "0" "892" "0" "c.892A>G" "r.(?)" "p.(Ser298Gly)" "" ""
"0000171785" "00015048" "95" "1057" "0" "1057" "0" "c.1057A>G" "r.(?)" "p.(Ser353Gly)" "11" "GTPase (exons 10-17)"
"0000171786" "00023887" "00" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "" ""
"0000171786" "00015048" "97" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "10" "GTPase (exons 10-17)"
"0000171787" "00023887" "00" "687" "0" "687" "0" "c.687T>A" "r.(?)" "p.(Tyr229*)" "" ""
"0000171787" "00015048" "55" "852" "0" "852" "0" "c.852T>A" "r.(?)" "p.(Tyr284*)" "9" ""
"0000171788" "00023887" "00" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312*)" "" ""
"0000171788" "00015048" "55" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367*)" "11" "GTPase (exons 10-17)"
"0000171789" "00023887" "00" "784" "-2" "784" "-2" "c.784-2A>T" "r.spl?" "p.?" "" ""
"0000171789" "00015048" "55" "949" "-2" "949" "-2" "c.949-2A>T" "r.spl" "p.?" "9i" ""
"0000171790" "00023887" "00" "1313" "0" "1313" "0" "c.1313A>T" "r.(?)" "p.(Asp438Val)" "" ""
"0000171790" "00015048" "57" "1478" "0" "1478" "0" "c.1478A>T" "r.(?)" "p.(Asp493Val)" "16" "GTPase (exons 10-17)"
"0000171791" "00023887" "00" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Arg590Trp)" "" ""
"0000171791" "00015048" "97" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Arg645Trp)" "20" "Dynamin Central (exons 18-26)"
"0000171792" "00023887" "00" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000171792" "00015048" "97" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" "Basic (exons 1-3)"
"0000171793" "00023887" "00" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" ""
"0000171793" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED (exons 29-30)"
"0000171794" "00015048" "97" "2056" "0" "2057" "0" "c.2056_2057insN[41]" "r.spl" "p.?" "22" "Dynamin Central (exons 18-26)"
"0000171795" "00015048" "97" "2056" "0" "2057" "0" "c.2056_2057insN[41]" "r.spl" "p.?" "22" "Dynamin Central (exons 18-26)"
"0000171796" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171796" "00015048" "95" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171797" "00023887" "00" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "" ""
"0000171797" "00015048" "95" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" "Dynamin Central (exons 18-26)"
"0000171798" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171798" "00015048" "95" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171799" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171799" "00015048" "55" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171800" "00023887" "00" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" ""
"0000171800" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exons 10-17)"
"0000171801" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171801" "00015048" "95" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171802" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171802" "00015048" "55" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171803" "00023887" "00" "1345" "0" "1345" "0" "c.1345A>C" "r.(?)" "p.(Thr449Pro)" "" ""
"0000171803" "00015048" "95" "1510" "0" "1510" "0" "c.1510A>C" "r.(?)" "p.(Thr504Pro)" "16" "GTPase (exons 10-17)"
"0000171804" "00023887" "00" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" ""
"0000171804" "00015048" "95" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000171805" "00023887" "00" "1313" "-1" "1313" "-1" "c.1313-1G>A" "r.spl?" "p.?" "" ""
"0000171805" "00015048" "97" "1478" "-1" "1478" "-1" "c.1478-1G>A" "r.spl" "p.?" "15i" "GTPase (exons 10-17)"
"0000171806" "00023887" "00" "1313" "-1" "1313" "-1" "c.1313-1G>A" "r.spl?" "p.?" "" ""
"0000171806" "00015048" "97" "1478" "-1" "1478" "-1" "c.1478-1G>A" "r.spl" "p.?" "15i" "GTPase (exons 10-17)"
"0000171807" "00023887" "00" "984" "1" "984" "1" "c.984+1G>A" "r.spl?" "p.?" "" ""
"0000171807" "00015048" "97" "1149" "1" "1149" "1" "c.1149+1G>A" "r.spl" "p.?" "11i" "GTPase (exons 10-17)"
"0000171808" "00023887" "00" "1198" "0" "1198" "0" "c.1198C>G" "r.(?)" "p.(Pro400Ala)" "" ""
"0000171808" "00015048" "97" "1363" "0" "1363" "0" "c.1363C>G" "r.(?)" "p.(Pro455Ala)" "14" "GTPase (exons 10-17)"
"0000171809" "00023887" "00" "1444" "-1" "1444" "-1" "c.1444-1G>C" "r.spl?" "p.?" "" ""
"0000171809" "00015048" "75" "1609" "-1" "1609" "-1" "c.1609-1G>C" "r.spl" "p.?" "16i" "GTPase (exons 10-17)"
"0000171810" "00023887" "00" "629" "0" "629" "0" "c.629C>A" "r.(?)" "p.(Ser210*)" "" ""
"0000171810" "00015048" "75" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265*)" "8" "Non-specific domain"
"0000171811" "00023887" "00" "1390" "0" "1392" "0" "c.1390_1392del" "r.(?)" "p.(Phe464del)" "" ""
"0000171811" "00015048" "95" "1555" "0" "1557" "0" "c.1555_1557del" "r.(?)" "p.(Phe519del)" "16" "GTPase (exons 10-17)"
"0000171812" "00023887" "00" "1390" "0" "1392" "0" "c.1390_1392del" "r.(?)" "p.(Phe464del)" "" ""
"0000171812" "00015048" "95" "1555" "0" "1557" "0" "c.1555_1557del" "r.(?)" "p.(Phe519del)" "16" "GTPase (exons 10-17)"
"0000171813" "00023887" "00" "1390" "0" "1392" "0" "c.1390_1392del" "r.(?)" "p.(Phe464del)" "" ""
"0000171813" "00015048" "95" "1555" "0" "1557" "0" "c.1555_1557del" "r.(?)" "p.(Phe519del)" "16" "GTPase (exons 10-17)"
"0000171814" "00023887" "00" "1390" "0" "1392" "0" "c.1390_1392del" "r.(?)" "p.(Phe464del)" "" ""
"0000171814" "00015048" "95" "1555" "0" "1557" "0" "c.1555_1557del" "r.(?)" "p.(Phe519del)" "16" "GTPase (exons 10-17)"
"0000171815" "00023887" "00" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Arg857*)" "" ""
"0000171815" "00015048" "95" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912*)" "27" "Non-specific domain"
"0000171816" "00023887" "00" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Arg857*)" "" ""
"0000171816" "00015048" "95" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912*)" "27" "Non-specific domain"
"0000171817" "00023887" "00" "1212" "0" "1212" "0" "c.1212del" "r.(?)" "p.(Asn404Lysfs*3)" "" ""
"0000171817" "00015048" "95" "1377" "0" "1377" "0" "c.1377del" "r.(?)" "p.(Asn459Lysfs*3)" "14" "GTPase (exons 10-17)"
"0000171818" "00023887" "00" "1016" "0" "1016" "0" "c.1016C>A" "r.(?)" "p.(Ala339Asp)" "" ""
"0000171818" "00015048" "55" "1181" "0" "1181" "0" "c.1181C>A" "r.(?)" "p.(Ala394Asp)" "12" "GTPase (exons 10-17)"
"0000171819" "00023887" "00" "1213" "-7" "1213" "-4" "c.1213-7_1213-4del" "r.spl?" "p.?" "" ""
"0000171819" "00015048" "55" "1378" "-7" "1378" "-4" "c.1378-7_1378-4del" "r.spl?" "p.?" "14i" "Non-specific domain"
"0000171820" "00023887" "00" "1990" "0" "1990" "0" "c.1990C>T" "r.(?)" "p.(Gln664*)" "" ""
"0000171820" "00015048" "97" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Gln719*)" "22" "Dynamin Central (exons 18-26)"
"0000171821" "00023887" "00" "2818" "0" "2818" "1" "c.2818_2818+1del" "r.spl?" "p.?" "" ""
"0000171821" "00015048" "95" "2983" "0" "2983" "1" "c.2983_2983+1del" "r.spl" "p.?" "29_29i" "Putative GED (exons 29-30)"
"0000171822" "00023887" "00" "1177" "0" "1177" "0" "c.1177A>C" "r.(?)" "p.(=)" "" ""
"0000171822" "00015048" "35" "1342" "0" "1342" "0" "c.1342A>C" "r.(?)" "p.(=)" "14" "GTPase (exons 10-17)"
"0000171823" "00023887" "00" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Gln217*)" "" ""
"0000171823" "00015048" "97" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Gln272*)" "8" "Non-specific domain"
"0000171824" "00023887" "00" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ile24Val)" "" ""
"0000171824" "00015048" "35" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ile24Val)" "2" "Basic (exons 1-3)"
"0000171825" "00023887" "00" "1847" "4" "1847" "7" "c.1847+4_1847+7del" "r.spl?" "p.?" "" ""
"0000171825" "00015048" "57" "2012" "4" "2012" "7" "c.2012+4_2012+7del" "r.spl?" "p.?" "21i" "Dynamin Central (exons 18-26)"
"0000171826" "00023887" "00" "357" "0" "357" "0" "c.357del" "r.(?)" "p.(Phe119Leufs*7)" "" ""
"0000171826" "00015048" "95" "357" "0" "357" "0" "c.357del" "r.(?)" "p.(Phe119Leufs*7)" "3" "Basic (exons 1-3)"
"0000171827" "00023887" "00" "2276" "-13" "2276" "-13" "c.2276-13T>G" "r.(?)" "p.(=)" "" ""
"0000171827" "00015048" "55" "2441" "-13" "2441" "-13" "c.2441-13T>G" "r.(?)" "p.(=)" "24i" "Non-specific domain"
"0000171828" "00023887" "00" "784" "-3" "784" "-3" "c.784-3C>A" "r.spl?" "p.?" "" ""
"0000171828" "00015048" "55" "949" "-3" "949" "-3" "c.949-3C>A" "r.spl?" "p.?" "9i" "Non-specific domain"
"0000171829" "00023887" "00" "2102" "0" "2103" "0" "c.2102_2103del" "r.(?)" "p.(Lys701Argfs*4)" "" ""
"0000171829" "00015048" "95" "2267" "0" "2268" "0" "c.2267_2268del" "r.(?)" "p.(Lys756Argfs*4)" "23" "Dynamin Central (exons 18-26)"
"0000171830" "00023887" "00" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Trp89*)" "" ""
"0000171830" "00015048" "97" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Trp89*)" "2" "Basic (exons 1-3)"
"0000171831" "00023887" "00" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" ""
"0000171831" "00015048" "75" "3" "0" "3" "0" "c.3G>T" "" "p.0?" "1" "Basic (exons 1-3)"
"0000171832" "00023887" "00" "1137" "0" "1137" "0" "c.1137T>G" "r.(?)" "p.(=)" "" ""
"0000171832" "00015048" "35" "1302" "0" "1302" "0" "c.1302T>G" "r.(?)" "p.(=)" "13" "GTPase (exons 10-17)"
"0000171833" "00023887" "00" "624" "2" "624" "2" "c.624+2T>G" "" "p.?" "" ""
"0000171833" "00015048" "75" "678" "2" "678" "2" "c.678+2T>G" "" "p.?" "6i" "Non-specific domain"
"0000171834" "00023887" "00" "2294" "0" "2294" "0" "c.2294dup" "r.(?)" "p.(Asn765Lysfs*26)" "" ""
"0000171834" "00015048" "97" "2459" "0" "2459" "0" "c.2459dup" "r.(?)" "p.(Asn820Lysfs*26)" "25" "Dynamin Central (exons 18-26)"
"0000171835" "00023887" "00" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Ser298Asn)" "" ""
"0000171835" "00015048" "75" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Ser353Asn)" "11" "GTPase (exons 10-17)"
"0000171836" "00023887" "00" "32" "87" "32" "87" "c.32+87del" "r.(?)" "p.(=)" "" ""
"0000171836" "00015048" "55" "32" "87" "32" "87" "c.32+87del" "r.(?)" "p.(=)" "1i" "Non-specific domain"
"0000171837" "00023887" "00" "2725" "0" "2726" "0" "c.2725_2726insTTA" "r.(?)" "p.(Lys908_Asn909insIle)" "" ""
"0000171837" "00015048" "55" "2890" "0" "2891" "0" "c.2890_2891insTTA" "r.(?)" "p.(Lys963_Asn964insIle)" "29" "Putative GED (exons 29-30)"
"0000171838" "00023887" "00" "1065" "2" "1065" "2" "c.1065+2T>A" "r.spl?" "p.?" "" ""
"0000171838" "00015048" "95" "1230" "2" "1230" "2" "c.1230+2T>A" "r.spl" "p.?" "12i" "Non-specific domain"
"0000171839" "00023887" "00" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(=)" "" ""
"0000171839" "00015048" "35" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(=)" "3" "Basic (exons 1-3)"
"0000171840" "00023887" "00" "1502" "0" "1502" "0" "c.1502T>A" "r.(?)" "p.(Val501Asp)" "" ""
"0000171840" "00015048" "75" "1667" "0" "1667" "0" "c.1667T>A" "r.(?)" "p.(Val556Asp)" "17" "GTPase (exons 10-17)"
"0000171841" "00023887" "00" "2719" "0" "2719" "0" "c.2719G>T" "r.(?)" "p.(Glu907*)" "" ""
"0000171841" "00015048" "97" "2884" "0" "2884" "0" "c.2884G>T" "r.(?)" "p.(Glu962*)" "29" "Putative GED (exons 29-30)"
"0000171842" "00023887" "00" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Gly409Asp)" "" ""
"0000171842" "00015048" "55" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Gly464Asp)" "15" "GTPase (exons 10-17)"
"0000171843" "00023887" "00" "1019" "0" "1019" "0" "c.1019T>C" "r.(?)" "p.(Leu340Pro)" "" ""
"0000171843" "00015048" "55" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Leu395Pro)" "12" "GTPase (exons 10-17)"
"0000171844" "00023887" "00" "2356" "-1" "2356" "-1" "c.2356-1G>T" "r.spl" "p.?" "" ""
"0000171844" "00015048" "97" "2521" "-1" "2521" "-1" "c.2521-1G>T" "r.spl" "p.?" "25i" "Non-specific domain"
"0000171845" "00023887" "00" "948" "0" "948" "0" "c.948del" "r.(?)" "p.(Gly317Aspfs*5)" "" ""
"0000171845" "00015048" "97" "1113" "0" "1113" "0" "c.1113del" "r.(?)" "p.(Gly372Aspfs*5)" "11" "GTPase (exons 10-17)"
"0000171846" "00023887" "00" "2614" "-1" "2614" "-1" "c.2614-1G>T" "r.spl?" "p.?" "" ""
"0000171846" "00015048" "97" "2779" "-1" "2779" "-1" "c.2779-1G>T" "r.spl" "p.?" "27i" "Non-specific domain"
"0000171847" "00023887" "00" "2819" "-1" "2903" "0" "c.(2818+1_2819-1)_(*20_?)del" "r.spl" "p.?" "" ""
"0000171847" "00015048" "97" "2984" "-1" "3068" "0" "c.(2983+1_2984-1)_(*20_?)del" "r.spl" "p.?" "29i_31i" "Putative GED (exons 29-30)"
"0000171848" "00023887" "00" "1517" "-16" "1517" "-16" "c.1517-16del" "r.(?)" "p.(=)" "" ""
"0000171848" "00015048" "33" "1682" "-16" "1682" "-16" "c.1682-16del" "r.(?)" "p.(=)" "17i" "Non-specific domain"
"0000171849" "00023887" "00" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000171849" "00015048" "77" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" "Basic (exons 1-3)"
"0000171850" "00023887" "00" "33" "-1" "448" "1" "c.(32+1_33-1)_(448+1_449-1)del" "r.spl" "p.?" "" ""
"0000171850" "00015048" "77" "33" "-1" "448" "1" "c.(32+1_33-1)_(448+1_449-1)del" "r.spl" "p.?" "1i_3i" "Basic (exons 1-3)"
"0000171851" "00023887" "00" "1563" "0" "1569" "0" "c.1563_1569del" "r.(?)" "p.(Glu521Aspfs*7)" "" ""
"0000171851" "00015048" "97" "1728" "0" "1734" "0" "c.1728_1734del" "r.(?)" "p.(Glu576fs)" "18" "Dynamin Central (exons 18-26)"
"0000171852" "00023887" "00" "2836" "0" "2836" "0" "c.2836C>T" "r.(?)" "p.(Gln946*)" "" ""
"0000171852" "00015048" "97" "3001" "0" "3001" "0" "c.3001C>T" "r.(?)" "p.(Gln1001*)" "30" "Putative GED (exons 29-30)"
"0000171853" "00023887" "00" "1212" "5" "1212" "5" "c.1212+5G>A" "r.spl?" "p.?" "" ""
"0000171853" "00015048" "55" "1377" "5" "1377" "5" "c.1377+5G>A" "r.spl?" "p.(=)" "14i" "Non-specific domain"
"0000171854" "00023887" "00" "1212" "2" "1212" "2" "c.1212+2dup" "r.spl?" "p.?" "" ""
"0000171854" "00015048" "77" "1377" "2" "1377" "2" "c.1377+2dup" "r.spl" "p.?" "14i" "Non-specific domain"
"0000171855" "00023887" "00" "1848" "-1" "2355" "1" "c.(1847+1_1848-1)_(2355 +1_2356-1)dup" "r.?" "p.?" "" ""
"0000171855" "00015048" "77" "2013" "-1" "2520" "1" "c.(2012+1_2013-1)_(2520+1_2521-1)dup" "r.?" "p.?" "21i_25i" "Dynamin Central (exons 18-26)"
"0000171856" "00023887" "00" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000171856" "00015048" "97" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" "Basic (exons 1-3)"
"0000171857" "00023887" "00" "1009" "0" "1009" "0" "c.1009C>G" "r.(?)" "p.(His337Asp)" "" ""
"0000171857" "00015048" "75" "1174" "0" "1174" "0" "c.1174C>G" "r.(?)" "p.(His392Asp)" "12" "GTPase (exons 10-17)"
"0000171858" "00023887" "00" "624" "1" "624" "1" "c.624+1G>T" "" "p.?" "" ""
"0000171858" "00015048" "55" "678" "1" "678" "1" "c.678+1G>T" "" "p.?" "6i" "Non-specific domain"
"0000171859" "00023887" "00" "778" "0" "778" "0" "c.778C>T" "r.(?)" "p.(Leu260Phe)" "" ""
"0000171859" "00015048" "95" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Leu315Phe)" "9" "Non-specific domain"
"0000171860" "00023887" "00" "784" "-1" "784" "-1" "c.784-1G>C" "r.spl?" "p.?" "" ""
"0000171860" "00015048" "95" "949" "-1" "949" "-1" "c.949-1G>C" "r.spl" "p.?" "10i" "GTPase (exons 10-17)"
"0000171861" "00023887" "00" "784" "-2" "784" "-2" "c.784-2A>G" "r.spl?" "p.?" "" ""
"0000171861" "00015048" "95" "949" "-2" "949" "-2" "c.949-2A>G" "r.spl" "p.?" "10i" "GTPase (exons 10-17)"
"0000171862" "00023887" "00" "1640" "0" "1640" "0" "c.1640C>A" "r.(?)" "p.(Ala547Glu)" "" ""
"0000171862" "00015048" "95" "1805" "0" "1805" "0" "c.1805C>A" "r.(?)" "p.(Ala602Glu)" "19" "Dynamin Central (exons 18-26)"
"0000171863" "00023887" "07" "1140" "5" "1140" "5" "c.1140+5G>C" "r.spl?" "p.?" "11i" ""
"0000171863" "00015048" "97" "1305" "5" "1305" "5" "c.1305+5G>C" "r.spl?" "p.?" "13i" "GTPase (exons 10-17)"
"0000171864" "00023887" "00" "1824" "0" "1824" "0" "c.1824del" "r.(?)" "p.(Ser609Alafs*24)" "" ""
"0000171864" "00015048" "97" "1989" "0" "1989" "0" "c.1989del" "r.(?)" "p.(Ser664Alafs*24)" "21" "Dynamin Central (exons 18-26)"
"0000171865" "00023887" "00" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" ""
"0000171865" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED (exons 29-30)"
"0000171866" "00023887" "00" "2693" "0" "2700" "0" "c.2693_2700dup" "r.(?)" "p.(Thr901Leufs*9)" "" ""
"0000171866" "00015048" "97" "2858" "0" "2865" "0" "c.2858_2865dup" "r.(?)" "p.(Thr956Leufs*9)" "28" "Non-specific domain"
"0000171867" "00023887" "00" "2800" "0" "2800" "0" "c.2800dup" "r.(?)" "p.(Gln934Profs*10)" "" ""
"0000171867" "00015048" "97" "2965" "0" "2965" "0" "c.2965dup" "r.(?)" "p.(Gln989Profs*10)" "29" "Putative GED (exons 29-30)"
"0000171868" "00023887" "00" "1847" "4" "1847" "7" "c.1847+4_1847+7del" "r.spl?" "p.?" "" ""
"0000171868" "00015048" "77" "2012" "4" "2012" "7" "c.2012+4_2012+7del" "r.spl?" "p.?" "21i" "Dynamin Central (exons 18-26)"
"0000171869" "00023887" "00" "2818" "6" "2818" "6" "c.2818+6T>C" "r.(?)" "p.(=)" "" ""
"0000171869" "00015048" "97" "2983" "6" "2983" "6" "c.2983+6T>C" "r.(?)" "p.(=)" "29i" "Putative GED (exons 29-30)"
"0000171870" "00023887" "00" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" ""
"0000171870" "00015048" "97" "973" "0" "973" "0" "c.973G>A" "r.(?)" "p.(Glu325Lys)" "10" "GTPase (exons 10-17)"
"0000171871" "00023887" "00" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Val548Ile)" "" ""
"0000171871" "00015048" "97" "1807" "0" "1807" "0" "c.1807G>A" "r.(?)" "p.(Val603Ile)" "19" "Dynamin Central (exons 18-26)"
"0000171872" "00023887" "00" "557" "-668" "557" "-668" "c.557-668G>A" "r.(?)" "p.(=)" "" ""
"0000171872" "00015048" "97" "610" "364" "610" "364" "c.610+364G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171873" "00023887" "00" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(=)" "" ""
"0000171873" "00015048" "33" "321" "0" "321" "0" "c.321G>A" "r.(?)" "p.(=)" "2" "Basic (exons 1-3)"
"0000171874" "00023887" "00" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" ""
"0000171874" "00015048" "35" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "2" "Basic (exons 1-3)"
"0000171875" "00023887" "00" "634" "0" "634" "0" "c.634A>T" "r.(?)" "p.(Lys212*)" "" ""
"0000171875" "00015048" "97" "799" "0" "799" "0" "c.799A>T" "r.(?)" "p.(Lys267*)" "8" "Non-specific domain"
"0000171876" "00023887" "00" "534" "0" "534" "0" "c.534A>G" "r.(?)" "p.(=)" "" ""
"0000171876" "00015048" "33" "534" "0" "534" "0" "c.534A>G" "r.(?)" "p.(=)" "4" "Non-specific domain"
"0000171877" "00023887" "00" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" ""
"0000171877" "00015048" "75" "3" "0" "3" "0" "c.3G>A" "" "p.0?" "1" "Basic (exons 1-3)"
"0000171878" "00023887" "00" "2310" "0" "2310" "0" "c.2310C>G" "r.(?)" "p.(Asp770Glu)" "" ""
"0000171878" "00015048" "55" "2475" "0" "2475" "0" "c.2475C>G" "r.(?)" "p.(Asp825Glu)" "25" "Dynamin Central (exons 18-26)"
"0000171879" "00023887" "00" "815" "0" "815" "0" "c.815T>C" "r.(?)" "p.(Leu272Pro)" "" ""
"0000171879" "00015048" "97" "980" "0" "980" "0" "c.980T>C" "r.(?)" "p.(Leu327Pro)" "10" "GTPase (exons 10-17)"
"0000171880" "00023887" "00" "2190" "0" "2190" "0" "c.2190G>C" "r.(?)" "p.(Leu730Phe)" "" ""
"0000171880" "00015048" "75" "2355" "0" "2355" "0" "c.2355G>C" "r.(?)" "p.(Leu785Phe)" "24" "Dynamin Central (exons 18-26)"
"0000171881" "00023887" "00" "1937" "0" "1937" "0" "c.1937del" "r.(?)" "p.(Ser646*)" "" ""
"0000171881" "00015048" "97" "2102" "0" "2102" "0" "c.2102del" "r.(?)" "p.(Ser701*)" "22" "Dynamin Central (exons 18-26)"
"0000171882" "00023887" "00" "854" "0" "854" "0" "c.854A>G" "r.(?)" "p.(Gln285Arg)" "" ""
"0000171882" "00015048" "97" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Gln340Arg)" "10" "GTPase (exons 10-17)"
"0000171883" "00023887" "00" "557" "-668" "557" "-668" "c.557-668G>A" "r.(?)" "p.(=)" "" ""
"0000171883" "00015048" "97" "610" "364" "610" "364" "c.610+364G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171884" "00023887" "00" "557" "-668" "557" "-668" "c.557-668G>A" "r.(?)" "p.(=)" "" ""
"0000171884" "00015048" "97" "610" "364" "610" "364" "c.610+364G>A" "r.(?)" "p.(=)" "5i" "Non-specific domain"
"0000171885" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171885" "00015048" "35" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000171886" "00023887" "00" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000171886" "00015048" "35" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exons 10-17)"
"0000244200" "00023887" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Arg290Trp)" "8" ""
"0000246108" "00023887" "10" "1071" "0" "1071" "0" "c.1071A>G" "r.(?)" "p.(Ala357=)" "" ""
"0000246108" "00015048" "10" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Ala412=)" "" ""
"0000246125" "00023887" "10" "2544" "0" "2544" "0" "c.2544A>G" "r.(?)" "p.(Thr848=)" "" ""
"0000246125" "00015048" "10" "2709" "0" "2709" "0" "c.2709A>G" "r.(?)" "p.(Thr903=)" "" ""
"0000246156" "00023887" "10" "2819" "-4" "2819" "-4" "c.2819-4A>G" "r.spl?" "p.?" "" ""
"0000246156" "00015048" "10" "2984" "-4" "2984" "-4" "c.2984-4A>G" "r.spl?" "p.?" "" ""
"0000251864" "00023887" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ile24Val)" "" ""
"0000251864" "00015048" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ile24Val)" "" ""
"0000252074" "00023887" "30" "1590" "-5" "1590" "-5" "c.1590-5A>T" "r.spl?" "p.?" "" ""
"0000252074" "00015048" "30" "1755" "-5" "1755" "-5" "c.1755-5A>T" "r.spl?" "p.?" "" ""
"0000254131" "00023887" "30" "1071" "0" "1071" "0" "c.1071A>G" "r.(?)" "p.(Ala357=)" "" ""
"0000254131" "00015048" "30" "1236" "0" "1236" "0" "c.1236A>G" "r.(?)" "p.(Ala412=)" "" ""
"0000254960" "00023887" "30" "2715" "0" "2715" "0" "c.2715A>G" "r.(?)" "p.(Arg905=)" "" ""
"0000254960" "00015048" "30" "2880" "0" "2880" "0" "c.2880A>G" "r.(?)" "p.(Arg960=)" "" ""
"0000256106" "00023887" "50" "1801" "0" "1801" "0" "c.1801A>G" "r.(?)" "p.(Ile601Val)" "" ""
"0000256106" "00015048" "50" "1966" "0" "1966" "0" "c.1966A>G" "r.(?)" "p.(Ile656Val)" "" ""
"0000256323" "00023887" "50" "1276" "0" "1276" "0" "c.1276A>T" "r.(?)" "p.(Met426Leu)" "" ""
"0000256323" "00015048" "50" "1441" "0" "1441" "0" "c.1441A>T" "r.(?)" "p.(Met481Leu)" "" ""
"0000256470" "00023887" "50" "2529" "0" "2529" "0" "c.2529A>T" "r.(?)" "p.(Arg843Ser)" "" ""
"0000256470" "00015048" "50" "2694" "0" "2694" "0" "c.2694A>T" "r.(?)" "p.(Arg898Ser)" "" ""
"0000256506" "00023887" "50" "1336" "0" "1336" "0" "c.1336A>T" "r.(?)" "p.(Ser446Cys)" "" ""
"0000256506" "00015048" "50" "1501" "0" "1501" "0" "c.1501A>T" "r.(?)" "p.(Ser501Cys)" "" ""
"0000256699" "00023887" "50" "1065" "9" "1065" "9" "c.1065+9A>G" "r.(=)" "p.(=)" "" ""
"0000256699" "00015048" "50" "1230" "9" "1230" "9" "c.1230+9A>G" "r.(=)" "p.(=)" "" ""
"0000293368" "00023887" "10" "852" "0" "852" "0" "c.852G>A" "r.(?)" "p.(Thr284=)" "" ""
"0000293368" "00015048" "10" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Thr339=)" "" ""
"0000293369" "00023887" "10" "2148" "0" "2148" "0" "c.2148C>G" "r.(?)" "p.(Asp716Glu)" "" ""
"0000293369" "00015048" "10" "2313" "0" "2313" "0" "c.2313C>G" "r.(?)" "p.(Asp771Glu)" "" ""
"0000293370" "00023887" "10" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Val140=)" "" ""
"0000293370" "00015048" "10" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Val140=)" "" ""
"0000293371" "00023887" "50" "556" "534" "556" "534" "c.556+534G>A" "r.(=)" "p.(=)" "" ""
"0000293371" "00015048" "50" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "" ""
"0000296676" "00023887" "30" "870" "20" "870" "20" "c.870+20T>C" "r.(=)" "p.(=)" "" ""
"0000296676" "00015048" "30" "1035" "20" "1035" "20" "c.1035+20T>C" "r.(=)" "p.(=)" "" ""
"0000296677" "00023887" "13" "870" "4" "870" "4" "c.870+4T>C" "r.spl?" "p.?" "8i" ""
"0000296677" "00015048" "13" "1035" "4" "1035" "4" "c.1035+4T>C" "r.spl?" "p.?" "10i" ""
"0000296678" "00023887" "30" "1944" "0" "1944" "0" "c.1944T>C" "r.(?)" "p.(Thr648=)" "" ""
"0000296678" "00015048" "30" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(Thr703=)" "" ""
"0000296679" "00023887" "50" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683His)" "" ""
"0000296679" "00015048" "50" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Arg738His)" "" ""
"0000300522" "00023887" "10" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" ""
"0000300522" "00015048" "10" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" ""
"0000300523" "00023887" "10" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" ""
"0000300523" "00015048" "10" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" ""
"0000304776" "00023887" "30" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000304776" "00015048" "30" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000304777" "00023887" "30" "1434" "0" "1434" "0" "c.1434T>C" "r.(?)" "p.(Ser478=)" "" ""
"0000304777" "00015048" "30" "1599" "0" "1599" "0" "c.1599T>C" "r.(?)" "p.(Ser533=)" "" ""
"0000304778" "00023887" "90" "2355" "2" "2355" "2" "c.2355+2T>C" "r.spl?" "p.?" "" ""
"0000304778" "00015048" "90" "2520" "2" "2520" "2" "c.2520+2T>C" "r.spl?" "p.?" "" ""
"0000304779" "00023887" "50" "2644" "0" "2644" "0" "c.2644C>G" "r.(?)" "p.(Arg882Gly)" "" ""
"0000304779" "00015048" "50" "2809" "0" "2809" "0" "c.2809C>G" "r.(?)" "p.(Arg937Gly)" "" ""
"0000304780" "00023887" "90" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903GlyfsTer3)" "" ""
"0000304780" "00015048" "90" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958GlyfsTer3)" "" ""
"0000304781" "00023887" "50" "2845" "0" "2845" "0" "c.2845C>A" "r.(?)" "p.(Leu949Ile)" "" ""
"0000304781" "00015048" "50" "3010" "0" "3010" "0" "c.3010C>A" "r.(?)" "p.(Leu1004Ile)" "" ""
"0000304782" "00023887" "50" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Pro127Leu)" "" ""
"0000304782" "00015048" "50" "380" "0" "380" "0" "c.380C>T" "r.(?)" "p.(Pro127Leu)" "" ""
"0000304783" "00023887" "30" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Val140=)" "" ""
"0000304783" "00015048" "30" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Val140=)" "" ""
"0000304784" "00023887" "10" "625" "-5528" "625" "-5528" "c.625-5528C>T" "r.(=)" "p.(=)" "" ""
"0000304784" "00015048" "10" "679" "-8" "679" "-8" "c.679-8C>T" "r.(=)" "p.(=)" "" ""
"0000304785" "00023887" "55" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "7" ""
"0000304785" "00015048" "55" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "9" ""
"0000337412" "00023887" "10" "557" "-19" "557" "-19" "c.557-19T>C" "r.(=)" "p.(=)" "" ""
"0000337412" "00015048" "10" "611" "-19" "611" "-19" "c.611-19T>C" "r.(=)" "p.(=)" "" ""
"0000337414" "00023887" "10" "1770" "16" "1770" "16" "c.1770+16T>G" "r.(=)" "p.(=)" "" ""
"0000337414" "00015048" "10" "1935" "16" "1935" "16" "c.1935+16T>G" "r.(=)" "p.(=)" "" ""
"0000339591" "00023887" "10" "2109" "0" "2109" "0" "c.2109T>C" "r.(?)" "p.(Ala703=)" "" ""
"0000339591" "00015048" "10" "2274" "0" "2274" "0" "c.2274T>C" "r.(?)" "p.(Ala758=)" "" ""
"0000342773" "00023887" "35" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000342773" "00015048" "35" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000342874" "00023887" "70" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Arg366Gln)" "" ""
"0000342874" "00015048" "70" "1262" "0" "1262" "0" "c.1262G>A" "r.(?)" "p.(Arg421Gln)" "" ""
"0000343517" "00023887" "90" "2713" "0" "2713" "0" "c.2713C>T" "r.(?)" "p.(Arg905Ter)" "" ""
"0000343517" "00015048" "90" "2878" "0" "2878" "0" "c.2878C>T" "r.(?)" "p.(Arg960Ter)" "" ""
"0000344749" "00023887" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Gln249Ter)" "" ""
"0000344749" "00015048" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Gln304Ter)" "" ""
"0000344915" "00023887" "97" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Gln61Ter)" "2" ""
"0000344915" "00015048" "97" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Gln61Ter)" "2" ""
"0000344944" "00023887" "99" "1974" "0" "1974" "0" "c.1974dup" "r.(?)" "p.(Gln659ThrfsTer4)" "20" ""
"0000344944" "00015048" "99" "2139" "0" "2139" "0" "c.2139dup" "r.(?)" "p.(Gln714ThrfsTer4)" "22" ""
"0000346733" "00023887" "30" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000346733" "00015048" "30" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000347596" "00023887" "99" "1480" "0" "1480" "0" "c.1480A>T" "r.(?)" "p.(Lys494Ter)" "15" ""
"0000347596" "00015048" "99" "1645" "0" "1645" "0" "c.1645A>T" "r.(?)" "p.(Lys549Ter)" "17" ""
"0000348748" "00023887" "10" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Ser158Asn)" "" ""
"0000348748" "00015048" "10" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Ser158Asn)" "" ""
"0000350993" "00023887" "90" "448" "1" "448" "1" "c.448+1G>T" "r.spl?" "p.?" "" ""
"0000350993" "00015048" "90" "448" "1" "448" "1" "c.448+1G>T" "r.spl?" "p.?" "" ""
"0000350994" "00023887" "70" "870" "5" "870" "5" "c.870+5G>A" "r.spl?" "p.?" "" ""
"0000350994" "00015048" "70" "1035" "5" "1035" "5" "c.1035+5G>A" "r.spl?" "p.?" "" ""
"0000351524" "00023887" "10" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000351524" "00015048" "10" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000353662" "00023887" "99" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Phe75Serfs*19)" "2" ""
"0000353662" "00015048" "99" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Phe75Serfs*19)" "2" ""
"0000353663" "00023887" "99" "1067" "0" "1068" "0" "c.1067_1068dup" "r.(?)" "p.(Ala357Leufs*4)" "11" ""
"0000353663" "00015048" "99" "1232" "0" "1233" "0" "c.1232_1233dup" "r.(?)" "p.(Ala412Leufs*4)" "13" ""
"0000353664" "00023887" "99" "1214" "0" "1216" "0" "c.1214_1216delinsT" "r.(?)" "p.(Thr405Ilefs*8)" "13" ""
"0000353664" "00015048" "99" "1379" "0" "1381" "0" "c.1379_1381delinsT" "r.(?)" "p.(Thr460Ilefs*8)" "15" ""
"0000353665" "00023887" "99" "737" "0" "737" "0" "c.737T>G" "r.(?)" "p.(Leu246*)" "7" ""
"0000353665" "00015048" "99" "902" "0" "902" "0" "c.902T>G" "r.(?)" "p.(Leu301*)" "9" ""
"0000353674" "00023887" "97" "1066" "-15" "1066" "-7" "c.1066-15_1066-7delinsGCAG" "r.(=)" "p.(=)" "11" ""
"0000353674" "00015048" "97" "1231" "-15" "1231" "-7" "c.1231-15_1231-7delinsGCAG" "r.(=)" "p.(=)" "13" ""
"0000355070" "00023887" "10" "870" "4" "870" "4" "c.870+4T>C" "r.spl?" "p.?" "" ""
"0000355070" "00015048" "10" "1035" "4" "1035" "4" "c.1035+4T>C" "r.spl?" "p.?" "" ""
"0000369055" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369055" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369056" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369056" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369057" "00023887" "90" "1065" "2" "1065" "2" "c.1065+2T>G" "r.spl?" "p.(=)" "" "GTPase (exon 10-17)"
"0000369057" "00015048" "90" "1230" "2" "1230" "2" "c.1230+2T>G" "r.spl" "p.?" "12i" "GTPase (exon 10-17)"
"0000369058" "00023887" "90" "1065" "2" "1065" "2" "c.1065+2T>G" "r.spl?" "p.(=)" "" "GTPase (exon 10-17)"
"0000369058" "00015048" "90" "1230" "2" "1230" "2" "c.1230+2T>G" "r.spl" "p.?" "12i" "GTPase (exon 10-17)"
"0000369059" "00023887" "90" "1065" "2" "1065" "2" "c.1065+2T>G" "r.spl?" "p.(=)" "" "GTPase (exon 10-17)"
"0000369059" "00015048" "90" "1230" "2" "1230" "2" "c.1230+2T>G" "r.spl" "p.?" "12i" "GTPase (exon 10-17)"
"0000369060" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369060" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369061" "00023887" "97" "1313" "0" "1313" "0" "c.1313A>T" "r.(?)" "p.(Asp438Val)" "" "GTPase (exon 10-17)"
"0000369061" "00015048" "97" "1478" "0" "1478" "0" "c.1478A>T" "r.(?)" "p.(Asp493Val)" "16" "GTPase (exon 10-17)"
"0000369062" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369062" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369063" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369063" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369064" "00023887" "97" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Ser64Leufs*2)" "" "Basic (exon 1-3)"
"0000369064" "00015048" "97" "190" "0" "190" "0" "c.190del" "r.(?)" "p.(Ser64Leufs*2)" "2" "Basic (exon 1-3)"
"0000369065" "00023887" "99" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Phe75Serfs*19)" "2" ""
"0000369065" "00015048" "99" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Phe75Serfs*19)" "2" ""
"0000369066" "00023887" "97" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" "GTPase (exon 10-17)"
"0000369066" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exon 10-17)"
"0000369067" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369067" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369068" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369068" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369069" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369069" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369070" "00023887" "97" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "" "Dynamin Central (exons 18-26)"
"0000369070" "00015048" "97" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" "Dynamin Central (exons 18-26)"
"0000369071" "00023887" "97" "2341" "0" "2341" "0" "c.2341C>T" "r.(?)" "p.(Arg781Trp)" "" "Dynamin Central (exons 18-26)"
"0000369071" "00015048" "97" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Arg836Trp)" "25" "Dynamin Central (exons 18-26)"
"0000369072" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369072" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369073" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369073" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369074" "00023887" "97" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Leu593Pro)" "" "Dynamin Central (exons 18-26)"
"0000369074" "00015048" "97" "1943" "0" "1943" "0" "c.1943T>C" "r.(?)" "p.(Leu648Pro)" "21" "Dynamin Central (exons 18-26)"
"0000369075" "00023887" "97" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Leu593Pro)" "" "Dynamin Central (exons 18-26)"
"0000369075" "00015048" "97" "1943" "0" "1943" "0" "c.1943T>C" "r.(?)" "p.(Leu648Pro)" "21" "Dynamin Central (exons 18-26)"
"0000369076" "00023887" "97" "2725" "0" "2726" "0" "c.2725_2726del" "r.(?)" "p.(Asn909Cysfs*2)" "" "Putative GED 29-30"
"0000369076" "00015048" "97" "2890" "0" "2891" "0" "c.2890_2891del" "r.(?)" "p.(Asn964Cysfs*2)" "29" "Putative GED 29-30"
"0000369077" "00023887" "97" "1892" "0" "1893" "0" "c.1892_1893del" "r.(?)" "p.(His631Argfs*3)" "" "Dynamin Central (exons 18-26)"
"0000369077" "00015048" "97" "2057" "0" "2058" "0" "c.2057_2058del" "r.(?)" "p.(His686Argfs*3)" "22" "Dynamin Central (exons 18-26)"
"0000369078" "00023887" "97" "1892" "0" "1893" "0" "c.1892_1893del" "r.(?)" "p.(His631Argfs*3)" "" "Dynamin Central (exons 18-26)"
"0000369078" "00015048" "97" "2057" "0" "2058" "0" "c.2057_2058del" "r.(?)" "p.(His686Argfs*3)" "22" "Dynamin Central (exons 18-26)"
"0000369079" "00023887" "99" "1067" "0" "1068" "0" "c.1067_1068dup" "r.(?)" "p.(Ala357Leufs*4)" "11" ""
"0000369079" "00015048" "99" "1232" "0" "1233" "0" "c.1232_1233dup" "r.(?)" "p.(Ala412Leufs*4)" "13" ""
"0000369080" "00023887" "97" "1937" "0" "1937" "0" "c.1937C>T" "r.(?)" "p.(Ser646Leu)" "" "Dynamin Central (exons 18-26)"
"0000369080" "00015048" "97" "2102" "0" "2102" "0" "c.2102C>T" "r.(?)" "p.(Ser701Leu)" "22" "Dynamin Central (exons 18-26)"
"0000369081" "00023887" "97" "2823" "0" "2823" "0" "c.2823dup" "r.(?)" "p.(Val942Serfs*2)" "" "Putative GED (exon 29-30)"
"0000369081" "00015048" "97" "2988" "0" "2988" "0" "c.2988dup" "r.(?)" "p.(Val997Serfs*2)" "30" "Putative GED (exon 29-30)"
"0000369082" "00023887" "99" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "9i" "GTPase (exon 10-17)"
"0000369082" "00015048" "99" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exon 10-17)"
"0000369083" "00023887" "97" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" "GTPase (exon 10-17)"
"0000369083" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exon 10-17)"
"0000369084" "00023887" "97" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" "GTPase (exon 10-17)"
"0000369084" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exon 10-17)"
"0000369085" "00023887" "99" "1214" "0" "1216" "0" "c.1214_1216delinsT" "r.(?)" "p.(Thr405Ilefs*8)" "13" ""
"0000369085" "00015048" "99" "1379" "0" "1381" "0" "c.1379_1381delinsT" "r.(?)" "p.(Thr460Ilefs*8)" "15" ""
"0000369086" "00023887" "97" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" ""
"0000369086" "00015048" "97" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Glu542Lys)" "17" ""
"0000369087" "00023887" "97" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" ""
"0000369087" "00015048" "97" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Glu542Lys)" "17" ""
"0000369088" "00023887" "97" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" ""
"0000369088" "00015048" "97" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Glu542Lys)" "17" ""
"0000369089" "00023887" "97" "2614" "-1" "2614" "-1" "c.2614-1G>A" "r.spl?" "p.?" "" ""
"0000369089" "00015048" "97" "2779" "-1" "2779" "-1" "c.2779-1G>A" "r.spl" "p.?" "27i" ""
"0000369090" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369090" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369091" "00023887" "97" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl?" "p.?" "20i" ""
"0000369091" "00015048" "97" "2179" "-1" "2179" "-1" "c.2179-1G>A" "r.spl" "p.?" "22i" ""
"0000369092" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369092" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369093" "00023887" "97" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "" "GTPase (exon 10-17)"
"0000369093" "00015048" "97" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "10" "GTPase (exon 10-17)"
"0000369094" "00023887" "97" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" "GTPase (exon 10-17)"
"0000369094" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" "GTPase (exon 10-17)"
"0000369095" "00023887" "97" "794" "0" "797" "0" "c.794_797del" "r.(?)" "p.(Ile265Thrfs*42)" "" "GTPase (exon 10-17)"
"0000369095" "00015048" "97" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ile320Thrfs*42)" "10" "GTPase (exon 10-17)"
"0000369096" "00023887" "97" "794" "0" "797" "0" "c.794_797del" "r.(?)" "p.(Ile265Thrfs*42)" "" "GTPase (exon 10-17)"
"0000369096" "00015048" "97" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ile320Thrfs*42)" "10" "GTPase (exon 10-17)"
"0000369097" "00023887" "97" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "" "Dynamin Central (exons 18-26)"
"0000369097" "00015048" "97" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" "Dynamin Central (exons 18-26)"
"0000369098" "00023887" "97" "794" "0" "797" "0" "c.794_797del" "r.(?)" "p.(Ile265Thrfs*42)" "" "GTPase (exon 10-17)"
"0000369098" "00015048" "97" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ile320Thrfs*42)" "10" "GTPase (exon 10-17)"
"0000369099" "00023887" "97" "794" "0" "797" "0" "c.794_797del" "r.(?)" "p.(Ile265Thrfs*42)" "" "GTPase (exon 10-17)"
"0000369099" "00015048" "97" "959" "0" "962" "0" "c.959_962del" "r.(?)" "p.(Ile320Thrfs*42)" "10" "GTPase (exon 10-17)"
"0000369100" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369100" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369101" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369101" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369102" "00023887" "97" "1770" "0" "1770" "0" "c.1770G>T" "r.(?)" "p.(=)" "" ""
"0000369102" "00015048" "97" "1935" "0" "1935" "0" "c.1935G>T" "r.(?)" "p.(Arg645=)" "20" ""
"0000369103" "00023887" "99" "737" "0" "737" "0" "c.737T>G" "r.(?)" "p.(Leu246*)" "7" ""
"0000369103" "00015048" "99" "902" "0" "902" "0" "c.902T>G" "r.(?)" "p.(Leu301*)" "9" ""
"0000369104" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369104" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369105" "00023887" "97" "871" "-1" "871" "-1" "c.871-1G>A" "r.spl?" "p.?" "" ""
"0000369105" "00015048" "97" "1036" "-1" "1036" "-1" "c.1036-1G>A" "r.spl" "p.?" "10i" ""
"0000369106" "00023887" "97" "871" "-1" "871" "-1" "c.871-1G>A" "r.spl?" "p.?" "" ""
"0000369106" "00015048" "97" "1036" "-1" "1036" "-1" "c.1036-1G>A" "r.spl" "p.?" "10i" ""
"0000369107" "00023887" "97" "871" "-1" "871" "-1" "c.871-1G>A" "r.spl?" "p.?" "" ""
"0000369107" "00015048" "97" "1036" "-1" "1036" "-1" "c.1036-1G>A" "r.spl" "p.?" "10i" ""
"0000369108" "00023887" "90" "1065" "2" "1065" "2" "c.1065+2T>G" "r.spl?" "p.(=)" "" "GTPase (exon 10-17)"
"0000369108" "00015048" "90" "1230" "2" "1230" "2" "c.1230+2T>G" "r.spl" "p.?" "12i" "GTPase (exon 10-17)"
"0000369109" "00023887" "97" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "" ""
"0000369109" "00015048" "97" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "2" ""
"0000369110" "00023887" "55" "704" "0" "704" "0" "c.704G>A" "r.(?)" "p.(Arg235Gln)" "7" ""
"0000369110" "00015048" "55" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "9" ""
"0000369111" "00023887" "97" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "" "Basic (exon 1-3)"
"0000369111" "00015048" "97" "305" "0" "305" "0" "c.305A>G" "r.(?)" "p.(Tyr102Cys)" "2" "Basic (exon 1-3)"
"0000369112" "00023887" "97" "1652" "0" "1652" "0" "c.1652G>A" "r.(?)" "p.(Cys551Tyr)" "" "Dynamin Central (exons 18-26)"
"0000369112" "00015048" "97" "1817" "0" "1817" "0" "c.1817G>A" "r.(?)" "p.(Cys606Tyr)" "19" "Dynamin Central (exons 18-26)"
"0000369113" "00023887" "97" "2818" "2" "2818" "2" "c.2818+2T>C" "r.spl?" "p.?" "" ""
"0000369113" "00015048" "97" "2983" "2" "2983" "2" "c.2983+2T>C" "r.spl" "p.?" "29i" ""
"0000369114" "00023887" "97" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "" "Dynamin Central (exons 18-26)"
"0000369114" "00015048" "97" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" "Dynamin Central (exons 18-26)"
"0000369115" "00023887" "99" "1214" "0" "1216" "0" "c.1214_1216delinsT" "r.(?)" "p.(Thr405Ilefs*8)" "13" ""
"0000369115" "00015048" "99" "1379" "0" "1381" "0" "c.1379_1381delinsT" "r.(?)" "p.(Thr460Ilefs*8)" "15" ""
"0000369116" "00023887" "97" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "" "Dynamin Central (exons 18-26)"
"0000369116" "00015048" "97" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" "Dynamin Central (exons 18-26)"
"0000369117" "00023887" "97" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl?" "p.?" "20i" ""
"0000369117" "00015048" "97" "2179" "-1" "2179" "-1" "c.2179-1G>A" "r.spl" "p.?" "22i" ""
"0000369118" "00023887" "97" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl?" "p.?" "20i" ""
"0000369118" "00015048" "97" "2179" "-1" "2179" "-1" "c.2179-1G>A" "r.spl" "p.?" "22i" ""
"0000369119" "00023887" "95" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "" "Dynamin Central (exons 18-26)"
"0000369119" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" "Dynamin Central (exons 18-26)"
"0000369120" "00023887" "55" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" "GTPase (exon 10-17)"
"0000369120" "00015048" "95" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" "GTPase (exon 10-17)"
"0000369121" "00023887" "97" "2014" "-1" "2014" "-1" "c.2014-1G>A" "r.spl?" "p.?" "20i" ""
"0000369121" "00015048" "97" "2179" "-1" "2179" "-1" "c.2179-1G>A" "r.spl" "p.?" "22i" ""
"0000369122" "00023887" "97" "984" "1" "984" "1" "c.984+1G>A" "r.spl?" "p.?" "" ""
"0000369122" "00015048" "97" "1149" "1" "1149" "1" "c.1149+1G>A" "r.spl" "p.?" "11i" ""
"0000369123" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369123" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369124" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369124" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369125" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369125" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369126" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369126" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369127" "00023887" "90" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Arg445His)" "" ""
"0000369127" "00015048" "90" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500His)" "16" ""
"0000369128" "00023887" "97" "984" "1" "984" "1" "c.984+1G>A" "r.spl?" "p.?" "" ""
"0000369128" "00015048" "97" "1149" "1" "1149" "1" "c.1149+1G>A" "r.spl" "p.?" "11i" ""
"0000369129" "00023887" "97" "984" "1" "984" "1" "c.984+1G>A" "r.spl?" "p.?" "" ""
"0000369129" "00015048" "97" "1149" "1" "1149" "1" "c.1149+1G>A" "r.spl" "p.?" "11i" ""
"0000369130" "00023887" "90" "1881" "0" "1882" "0" "c.1881_1882del" "r.(?)" "p.(Arg627Serfs*7)" "" ""
"0000369130" "00015048" "90" "2046" "0" "2047" "0" "c.2046_2047del" "r.(?)" "p.(Arg682Serfs*7)" "22" ""
"0000369131" "00023887" "97" "985" "-1" "985" "-1" "c.985-1G>A" "r.spl?" "p.?" "" ""
"0000369131" "00015048" "97" "1150" "-1" "1150" "-1" "c.1150-1G>A" "r.spl" "p.?" "11i" ""
"0000369132" "00023887" "97" "1891" "0" "1892" "0" "c.1891_1892insN[41]" "r.spl" "p.?" "20" "Dynamin Central (exons 18-26)"
"0000369132" "00015048" "97" "2056" "0" "2057" "0" "c.2056_2057insN[41]" "r.spl" "p.?" "22" "Dynamin Central (exons 18-26)"
"0000369133" "00023887" "50" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000369133" "00015048" "50" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "2" ""
"0000369134" "00023887" "97" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Glu)" "" ""
"0000369134" "00015048" "97" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Gly355Glu)" "11" ""
"0000369135" "00023887" "97" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Gly300Glu)" "" ""
"0000369135" "00015048" "97" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Gly355Glu)" "11" ""
"0000369136" "00023887" "97" "1444" "-1" "1444" "-1" "c.1444-1G>T" "r.spl?" "p.?" "" ""
"0000369136" "00015048" "97" "1609" "-1" "1609" "-1" "c.1609-1G>T" "r.spl" "p.?" "16i" ""
"0000369137" "00023887" "97" "1444" "-1" "1444" "-1" "c.1444-1G>T" "r.spl?" "p.?" "" ""
"0000369137" "00015048" "97" "1609" "-1" "1609" "-1" "c.1609-1G>T" "r.spl" "p.?" "16i" ""
"0000369138" "00023887" "97" "1444" "-1" "1444" "-1" "c.1444-1G>T" "r.spl?" "p.?" "" ""
"0000369138" "00015048" "97" "1609" "-1" "1609" "-1" "c.1609-1G>T" "r.spl" "p.?" "16i" ""
"0000369139" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369139" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369140" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369140" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000369141" "00023887" "97" "1066" "-15" "1066" "-7" "c.1066-15_1066-7delinsGCAG" "r.(=)" "p.(=)" "11" ""
"0000369141" "00015048" "97" "1231" "-15" "1231" "-7" "c.1231-15_1231-7delinsGCAG" "r.(=)" "p.(=)" "13" ""
"0000369142" "00023887" "97" "1066" "-15" "1066" "-7" "c.1066-15_1066-7delinsGCAG" "r.(=)" "p.(=)" "11" ""
"0000369142" "00015048" "97" "1231" "-15" "1231" "-7" "c.1231-15_1231-7delinsGCAG" "r.(=)" "p.(=)" "13" ""
"0000369143" "00023887" "97" "1066" "-15" "1066" "-7" "c.1066-15_1066-7delinsGCAG" "r.(=)" "p.(=)" "11" ""
"0000369143" "00015048" "97" "1231" "-15" "1231" "-7" "c.1231-15_1231-7delinsGCAG" "r.(=)" "p.(=)" "13" ""
"0000369144" "00023887" "97" "1313" "0" "1313" "0" "c.1313A>T" "r.(?)" "p.(Asp438Val)" "" "GTPase (exon 10-17)"
"0000369144" "00015048" "97" "1478" "0" "1478" "0" "c.1478A>T" "r.(?)" "p.(Asp493Val)" "16" "GTPase (exon 10-17)"
"0000369145" "00023887" "97" "1313" "0" "1313" "0" "c.1313A>T" "r.(?)" "p.(Asp438Val)" "" "GTPase (exon 10-17)"
"0000369145" "00015048" "97" "1478" "0" "1478" "0" "c.1478A>T" "r.(?)" "p.(Asp493Val)" "16" "GTPase (exon 10-17)"
"0000369146" "00023887" "99" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "" "Putative GED"
"0000369146" "00015048" "99" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" "Putative GED"
"0000405007" "00023887" "97" "888" "0" "888" "0" "c.888T>A" "r.(?)" "p.(Asp296Glu)" "9" ""
"0000405007" "00015048" "97" "1053" "0" "1053" "0" "c.1053T>A" "r.(?)" "p.(Asp351Glu)" "11" ""
"0000405547" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405547" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31" ""
"0000405548" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405548" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31" ""
"0000405549" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405549" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31" ""
"0000405551" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405551" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" ""
"0000405552" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405552" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" ""
"0000405553" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405553" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" ""
"0000405554" "00023887" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" ""
"0000405554" "00015048" "97" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_31_" ""
"0000405555" "00023887" "97" "2819" "0" "2824" "0" "c.2819_2824del" "r.(?)" "p.(Lys940_Val942delinsIle)" "28" ""
"0000405555" "00015048" "97" "2984" "0" "2989" "0" "c.2984_2989del" "r.(?)" "p.(Lys995_Val997delinsIle)" "30" ""
"0000405556" "00023887" "75" "9" "0" "14" "0" "c.9_14del" "r.(?)" "p.(Leu4_Arg5del)" "1" ""
"0000405556" "00015048" "75" "9" "0" "14" "0" "c.9_14del" "r.(?)" "p.(Leu4_Arg5del)" "1" ""
"0000405557" "00023887" "97" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Gly488Arg)" "15" ""
"0000405557" "00015048" "97" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Gly543Arg)" "17" ""
"0000405558" "00023887" "97" "1462" "0" "1462" "0" "c.1462G>A" "r.(?)" "p.(Gly488Arg)" "15" ""
"0000405558" "00015048" "97" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Gly543Arg)" "17" ""
"0000405559" "00023887" "97" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "15" ""
"0000405559" "00015048" "97" "1649" "0" "1649" "0" "c.1649C>T" "r.(?)" "p.(Ala550Val)" "17" ""
"0000405560" "00023887" "95" "1024" "0" "1024" "0" "c.1024A>G" "r.(?)" "p.(Lys342Glu)" "10" ""
"0000405560" "00015048" "95" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Lys397Glu)" "12" ""
"0000405561" "00023887" "77" "888" "0" "888" "0" "c.888T>A" "r.(?)" "p.(Asp296Glu)" "9" ""
"0000405561" "00015048" "77" "1053" "0" "1053" "0" "c.1053T>A" "r.(?)" "p.(Asp351Glu)" "11" ""
"0000405562" "00023887" "77" "1936" "0" "1936" "0" "c.1936dup" "r.(?)" "p.(Ser646Phefs*5)" "20" ""
"0000405562" "00015048" "77" "2101" "0" "2101" "0" "c.2101dup" "r.(?)" "p.(Ser701Phefs*5)" "22" ""
"0000405563" "00023887" "77" "2482" "0" "2482" "0" "c.2482del" "r.(?)" "p.(Val828*)" "24" ""
"0000405563" "00015048" "77" "2647" "0" "2647" "0" "c.2647del" "r.(?)" "p.(Val883*)" "26" ""
"0000405564" "00023887" "77" "1705" "1" "1705" "1" "c.1705+1G>T" "r.spl?" "p.?" "17i" ""
"0000405564" "00015048" "77" "1870" "1" "1870" "1" "c.1870+1G>T" "r.spl?" "p.?" "19i" ""
"0000405565" "00023887" "75" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000405565" "00015048" "75" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000405566" "00023887" "77" "1705" "1" "1705" "1" "c.1705+1G>T" "r.spl?" "p.?" "17i" ""
"0000405566" "00015048" "77" "1870" "1" "1870" "1" "c.1870+1G>T" "r.spl?" "p.?" "19i" ""
"0000405567" "00023887" "95" "1311" "0" "1311" "0" "c.1311A>G" "r.(=)" "p.(=)" "13" ""
"0000405567" "00015048" "95" "1476" "0" "1476" "0" "c.1476A>G" "r.(=)" "p.(=)" "15" ""
"0000405568" "00023887" "75" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Ser303Asn)" "9" ""
"0000405568" "00015048" "75" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Ser358Asn)" "11" ""
"0000405569" "00023887" "95" "1331" "0" "1331" "0" "c.1331A>G" "r.(?)" "p.(Glu444Gly)" "14" ""
"0000405569" "00015048" "95" "1496" "0" "1496" "0" "c.1496A>G" "r.(?)" "p.(Glu499Gly)" "16" ""
"0000405656" "00023887" "77" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Arg290Gln)" "9" ""
"0000405656" "00015048" "77" "1034" "0" "1034" "0" "c.1034G>A" "r.(?)" "p.(Arg345Gln)" "10" ""
"0000405657" "00023887" "97" "1028" "0" "1028" "0" "c.1028A>C" "r.(?)" "p.(Asp343Ala)" "10" ""
"0000405657" "00015048" "97" "1193" "0" "1193" "0" "c.1193A>C" "r.(?)" "p.(Asp398Ala)" "12" ""
"0000405658" "00023887" "97" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312*)" "9" ""
"0000405658" "00015048" "97" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Arg367*)" "11" ""
"0000405659" "00023887" "95" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "10" ""
"0000405659" "00015048" "95" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "12" ""
"0000405660" "00023887" "95" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Cys)" "26" ""
"0000405660" "00015048" "95" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Arg937Cys)" "28" ""
"0000405661" "00015048" "95" "768" "0" "768" "0" "c.768C>G" "r.(?)" "p.(Ser256Arg)" "7" ""
"0000405662" "00023887" "90" "854" "0" "854" "0" "c.854A>G" "r.(?)" "p.(Gln285Arg)" "9" ""
"0000405662" "00015048" "90" "1019" "0" "1019" "0" "c.1019A>G" "r.(?)" "p.(Gln340Arg)" "10" ""
"0000405663" "00023887" "97" "2190" "0" "2190" "0" "c.2190G>T" "r.(?)" "p.(Leu730Phe)" "22" ""
"0000405663" "00015048" "97" "2355" "0" "2355" "0" "c.2355G>T" "r.(?)" "p.(Leu785Phe)" "24" ""
"0000405664" "00023887" "97" "870" "5" "870" "5" "c.870+5G>A" "r.spl?" "p.?" "8i" ""
"0000405664" "00015048" "97" "1035" "5" "1035" "5" "c.1035+5G>A" "r.spl?" "p.?" "10i" ""
"0000405665" "00023887" "97" "870" "5" "870" "5" "c.870+5G>A" "r.spl?" "p.?" "9" ""
"0000405665" "00015048" "97" "1035" "5" "1035" "5" "c.1035+5G>A" "r.spl?" "p.?" "10" ""
"0000405666" "00023887" "97" "1601" "0" "1601" "0" "c.1601T>G" "r.(?)" "p.(Leu534Arg)" "17" ""
"0000405666" "00015048" "97" "1766" "0" "1766" "0" "c.1766T>G" "r.(?)" "p.(Leu589Arg)" "19" ""
"0000405667" "00023887" "97" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Gln31*)" "2" ""
"0000405667" "00015048" "97" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Gln31*)" "2" ""
"0000405674" "00023887" "97" "2795" "0" "2803" "0" "c.2795_2803del" "r.(?)" "p.(Arg932_Gln934del)" "27" ""
"0000405674" "00015048" "97" "2960" "0" "2968" "0" "c.2960_2968del" "r.(?)" "p.(Arg987_Gln989del)" "29" ""
"0000405675" "00023887" "97" "2819" "-1" "2821" "0" "c.2819-1_2821del" "r.spl?" "p.?" "" ""
"0000405675" "00015048" "97" "2984" "-1" "2986" "0" "c.2984-1_2986del" "r.spl?" "p.?" "29i_30" ""
"0000405676" "00023887" "97" "2844" "0" "2844" "0" "c.2844dup" "r.(?)" "p.(Leu949Thrfs*2)" "28" ""
"0000405676" "00015048" "97" "3009" "0" "3009" "0" "c.3009dup" "r.(?)" "p.(Leu1004Thrfs*2)" "30" ""
"0000405677" "00023887" "97" "2235" "0" "2235" "0" "c.2235T>G" "r.(?)" "p.(Ile745Met)" "22" ""
"0000405677" "00015048" "97" "2400" "0" "2400" "0" "c.2400T>G" "r.(?)" "p.(Ile800Met)" "24" ""
"0000405678" "00023887" "97" "1303" "0" "1303" "0" "c.1303T>C" "r.(?)" "p.(Cys435Arg)" "13" ""
"0000405678" "00015048" "97" "1468" "0" "1468" "0" "c.1468T>C" "r.(?)" "p.(Cys490Arg)" "15" ""
"0000405679" "00023887" "97" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Lys468Glu)" "14" ""
"0000405679" "00015048" "97" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Lys523Glu)" "16" ""
"0000405681" "00023887" "97" "611" "0" "612" "0" "c.611_612insACTGGAGAATGTAAAGGGCTTT" "r.(?)" "p.(His205Leufs*10)" "6" ""
"0000405681" "00015048" "97" "665" "0" "666" "0" "c.665_666insACTGGAGAATGTAAAGGGCTTT" "r.(?)" "p.(His223Leufs*10)" "6" ""
"0000405682" "00023887" "97" "1847" "4" "1847" "7" "c.1847+4_1847+7del" "r.spl?" "p.?" "19i" ""
"0000405682" "00015048" "97" "2012" "4" "2012" "7" "c.2012+4_2012+7del" "r.spl?" "p.?" "21i" ""
"0000405683" "00023887" "97" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824*)" "24" ""
"0000405683" "00015048" "97" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "26" ""
"0000405684" "00023887" "95" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "12" ""
"0000405684" "00015048" "95" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" ""
"0000405750" "00023887" "97" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Val402Met)" "12" ""
"0000405750" "00015048" "97" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Met)" "14" ""
"0000405752" "00023887" "75" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "12" ""
"0000405752" "00015048" "75" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" ""
"0000405756" "00023887" "97" "2819" "-1" "6095" "0" "c.(2818+1_2819-1)_(*3212_?)del" "r.(?)" "p.?" "_28_29_" ""
"0000405756" "00015048" "97" "2984" "-1" "6260" "0" "c.(2983+1_ 2984-1)_(*3212_?)del" "r.(?)" "p.?" "_30_31_" ""
"0000405757" "00023887" "97" "876" "0" "878" "0" "c.876_878del" "r.(?)" "p.(Val294del)" "9" ""
"0000405757" "00015048" "97" "1041" "0" "1043" "0" "c.1041_1043del" "r.(?)" "p.(Val349del)" "11" ""
"0000405758" "00023887" "97" "784" "-1" "784" "-1" "c.784-1G>T" "r.spl?" "p.?" "7i" ""
"0000405758" "00015048" "97" "949" "-1" "949" "-1" "c.949-1G>T" "r.spl?" "p.?" "9i" ""
"0000405759" "00023887" "97" "2366" "0" "2366" "0" "c.2366del" "r.(?)" "p.(Asn789Metfs*11)" "24" ""
"0000405759" "00015048" "97" "2531" "0" "2531" "0" "c.2531del" "r.(?)" "p.(Asn844Metfs*11)" "26" ""
"0000405760" "00023887" "97" "1140" "5" "1140" "5" "c.1140+5G>C" "r.spl?" "p.?" "11i" ""
"0000405760" "00015048" "97" "1305" "5" "1305" "5" "c.1305+5G>C" "r.spl?" "p.?" "13i" ""
"0000405761" "00023887" "97" "985" "0" "985" "0" "c.985G>T" "r.(?)" "p.(Val329Leu)" "10" ""
"0000405761" "00015048" "97" "1150" "0" "1150" "0" "c.1150G>T" "r.(?)" "p.(Val384Leu)" "12" ""
"0000405763" "00023887" "97" "1692" "0" "1692" "0" "c.1692del" "r.(?)" "p.(Asp565Ilefs*44)" "17" ""
"0000405763" "00015048" "97" "1857" "0" "1857" "0" "c.1857del" "r.(?)" "p.(Asp620Ilefs*44)" "19" ""
"0000405847" "00023887" "97" "784" "-5" "784" "-4" "c.784-5_784-4insMK031169.1" "r.spl?" "p.?" "7i" ""
"0000405847" "00015048" "97" "949" "-5" "949" "-4" "c.949-5_949-4insMK031169.1" "r.spl?" "p.?" "9i" ""
"0000405861" "00023887" "97" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903Glyfs*3)" "27" ""
"0000405861" "00015048" "97" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958Glyfs*3)" "29" ""
"0000405864" "00023887" "97" "2771" "0" "2773" "0" "c.2771_2773del" "r.(?)" "p.(Lys924del)" "27" ""
"0000405864" "00015048" "97" "2936" "0" "2938" "0" "c.2936_2938del" "r.(?)" "p.(Lys979del)" "29" ""
"0000405865" "00023887" "50" "870" "4" "870" "4" "c.870+4T>C" "r.spl?" "p.?" "8" ""
"0000405865" "00015048" "50" "1035" "4" "1035" "4" "c.1035+4T>C" "r.spl?" "p.?" "10" ""
"0000405866" "00023887" "50" "870" "32" "870" "32" "c.870+32T>C" "r.(=)" "p.(=)" "8" ""
"0000405866" "00015048" "50" "1035" "32" "1035" "32" "c.1035+32T>C" "r.(=)" "p.(=)" "10" ""
"0000405867" "00023887" "97" "2818" "5" "2818" "5" "c.2818+5G>A" "r.spl?" "p.?" "27i" ""
"0000405867" "00015048" "97" "2983" "5" "2983" "5" "c.2983+5G>A" "r.spl?" "p.?" "29i" ""
"0000405869" "00023887" "97" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Leu434Pro)" "13" ""
"0000405869" "00015048" "97" "1466" "0" "1466" "0" "c.1466T>C" "r.(?)" "p.(Leu489Pro)" "15" ""
"0000406235" "00023887" "97" "30" "0" "30" "0" "c.30del" "r.(?)" "p.(Cys11Valfs*7)" "" ""
"0000406235" "00015048" "97" "30" "0" "30" "0" "c.30del" "r.(?)" "p.(Cys11Valfs*7)" "" ""
"0000406236" "00023887" "97" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" ""
"0000406236" "00015048" "97" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" ""
"0000406237" "00023887" "97" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000406237" "00015048" "97" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000406238" "00023887" "97" "143" "0" "143" "0" "c.143T>G" "r.(?)" "p.(Leu48*)" "" ""
"0000406238" "00015048" "97" "143" "0" "143" "0" "c.143T>G" "r.(?)" "p.(Leu48*)" "" ""
"0000406239" "00023887" "97" "50" "0" "50" "0" "c.50T>G" "r.(?)" "p.(Leu17*)" "" ""
"0000406239" "00015048" "97" "50" "0" "50" "0" "c.50T>G" "r.(?)" "p.(Leu17*)" "" ""
"0000406240" "00023887" "93" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" ""
"0000406240" "00015048" "93" "43" "0" "43" "0" "c.43C>A" "r.(?)" "p.(Gln15Lys)" "" ""
"0000406241" "00023887" "97" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Tyr82Cys)" "" ""
"0000406241" "00015048" "97" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Tyr82Cys)" "" ""
"0000406242" "00023887" "97" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ala115Val)" "" ""
"0000406242" "00015048" "97" "344" "0" "344" "0" "c.344C>T" "r.(?)" "p.(Ala115Val)" "" ""
"0000406243" "00023887" "97" "419" "0" "419" "0" "c.419del" "r.(?)" "p.(Val140Glyfs*24)" "" ""
"0000406243" "00015048" "97" "419" "0" "419" "0" "c.419del" "r.(?)" "p.(Val140Glyfs*24)" "" ""
"0000406244" "00023887" "97" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Trp141*)" "" ""
"0000406244" "00015048" "97" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Trp141*)" "" ""
"0000406245" "00023887" "97" "631" "0" "634" "0" "c.631_634del" "r.(?)" "p.(Asp211Lysfs*16)" "" ""
"0000406245" "00015048" "97" "796" "0" "799" "0" "c.796_799del" "r.(?)" "p.(Asp266Lysfs*16)" "" ""
"0000406246" "00023887" "97" "737" "0" "737" "0" "c.737T>G" "r.(?)" "p.(Leu246*)" "" ""
"0000406246" "00015048" "97" "902" "0" "902" "0" "c.902T>G" "r.(?)" "p.(Leu301*)" "" ""
"0000406247" "00023887" "97" "756" "0" "757" "0" "c.756_757del" "r.(?)" "p.(Asp252Glufs*6)" "" ""
"0000406247" "00015048" "97" "921" "0" "922" "0" "c.921_922del" "r.(?)" "p.(Asp307Glufs*6)" "" ""
"0000406248" "00023887" "97" "784" "-2" "784" "-2" "c.784-2A>G" "r.spl" "p.(=)" "" ""
"0000406248" "00015048" "97" "949" "-2" "949" "-2" "c.949-2A>G" "r.spl" "p.(=)" "" ""
"0000406249" "00023887" "97" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" ""
"0000406249" "00015048" "97" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Tyr323Cys)" "" ""
"0000406250" "00023887" "97" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Gln285*)" "" ""
"0000406250" "00015048" "97" "1018" "0" "1018" "0" "c.1018C>T" "r.(?)" "p.(Gln340*)" "" ""
"0000406251" "00023887" "97" "1035" "0" "1035" "0" "c.1035del" "r.(?)" "p.(Arg346Glyfs*14)" "" ""
"0000406251" "00015048" "97" "1200" "0" "1200" "0" "c.1200del" "r.(?)" "p.(Arg401Glyfs*14)" "" ""
"0000406252" "00023887" "97" "870" "1" "870" "1" "c.870+1del" "r.spl" "p.(=)" "" ""
"0000406252" "00015048" "97" "1035" "1" "1035" "1" "c.1035+1del" "r.spl" "p.(=)" "" ""
"0000406253" "00023887" "97" "870" "3" "870" "3" "c.870+3A>C" "r.(spl?)" "p.(=)" "" ""
"0000406253" "00015048" "97" "1035" "3" "1035" "3" "c.1035+3A>C" "r.(spl?)" "p.(=)" "" ""
"0000406254" "00023887" "97" "984" "1" "984" "1" "c.984+1G>C" "r.spl" "p.(=)" "" ""
"0000406254" "00015048" "97" "1149" "1" "1149" "1" "c.1149+1G>C" "r.spl" "p.(=)" "" ""
"0000406255" "00023887" "97" "1065" "5" "1065" "5" "c.1065+5G>A" "r.spl" "p.(=)" "" ""
"0000406255" "00015048" "97" "1230" "5" "1230" "5" "c.1230+5G>A" "r.spl" "p.(=)" "" ""
"0000406256" "00023887" "97" "1140" "0" "1140" "0" "c.1140G>C" "r.(?)" "p.(Glu380Asp)" "" ""
"0000406256" "00015048" "97" "1305" "0" "1305" "0" "c.1305G>C" "r.(?)" "p.(Glu435Asp)" "" ""
"0000406257" "00023887" "97" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Pro400Leu)" "" ""
"0000406257" "00015048" "97" "1364" "0" "1364" "0" "c.1364C>T" "r.(?)" "p.(Pro455Leu)" "" ""
"0000406258" "00023887" "97" "1212" "0" "1212" "0" "c.1212del" "r.(?)" "p.(Asn404Lysfs*3)" "" ""
"0000406258" "00015048" "97" "1377" "0" "1377" "0" "c.1377del" "r.(?)" "p.(Asn459Lysfs*3)" "" ""
"0000406259" "00023887" "97" "1159" "0" "1159" "0" "c.1159A>T" "r.(?)" "p.(Lys387*)" "" ""
"0000406259" "00015048" "97" "1324" "0" "1324" "0" "c.1324A>T" "r.(?)" "p.(Lys442*)" "" ""
"0000406260" "00023887" "97" "1282" "0" "1282" "0" "c.1282A>C" "r.(?)" "p.(Asn428His)" "" ""
"0000406260" "00015048" "97" "1447" "0" "1447" "0" "c.1447A>C" "r.(?)" "p.(Asn483His)" "" ""
"0000406261" "00023887" "97" "1227" "0" "1227" "0" "c.1227dup" "r.(?)" "p.(Met410Hisfs*4)" "" ""
"0000406261" "00015048" "97" "1392" "0" "1392" "0" "c.1392dup" "r.(?)" "p.(Met465Hisfs*4)" "" ""
"0000406262" "00023887" "97" "1252" "0" "1252" "0" "c.1252del" "r.(?)" "p.(Ile418Phefs*49)" "" ""
"0000406262" "00015048" "97" "1417" "0" "1417" "0" "c.1417del" "r.(?)" "p.(Ile473Phefs*49)" "" ""
"0000406263" "00023887" "97" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "" ""
"0000406263" "00015048" "97" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421*)" "" ""
"0000406264" "00023887" "97" "1412" "0" "1412" "0" "c.1412T>C" "r.(?)" "p.(Leu471Pro)" "" ""
"0000406264" "00015048" "97" "1577" "0" "1577" "0" "c.1577T>C" "r.(?)" "p.(Leu526Pro)" "" ""
"0000406265" "00023887" "97" "1443" "2" "1443" "2" "c.1443+2T>C" "r.spl" "p.(=)" "" ""
"0000406265" "00015048" "97" "1608" "2" "1608" "2" "c.1608+2T>C" "r.spl" "p.(=)" "" ""
"0000406266" "00023887" "97" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Gly459Glu)" "" ""
"0000406266" "00015048" "97" "1541" "0" "1541" "0" "c.1541G>A" "r.(?)" "p.(Gly514Glu)" "" ""
"0000406267" "00023887" "97" "1385" "0" "1385" "0" "c.1385C>T" "r.(?)" "p.(Thr462Ile)" "" ""
"0000406267" "00015048" "97" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Thr517Ile)" "" ""
"0000406268" "00023887" "97" "1549" "0" "1550" "0" "c.1549_1550del" "r.(?)" "p.(Glu517Ilefs*2)" "" ""
"0000406268" "00015048" "97" "1714" "0" "1715" "0" "c.1714_1715del" "r.(?)" "p.(Glu572Ilefs*2)" "" ""
"0000406269" "00023887" "97" "1549" "0" "1550" "0" "c.1549_1550dup" "r.(?)" "p.(Tyr518Asnfs*13)" "" ""
"0000406269" "00015048" "97" "1714" "0" "1715" "0" "c.1714_1715dup" "r.(?)" "p.(Tyr573Asnfs*13)" "" ""
"0000406270" "00023887" "97" "1569" "0" "1569" "0" "c.1569del" "r.(?)" "p.(Gln524Argfs*6)" "" ""
"0000406270" "00015048" "97" "1734" "0" "1734" "0" "c.1734del" "r.(?)" "p.(Gln579Argfs*6)" "" ""
"0000406271" "00023887" "97" "1589" "1" "1589" "1" "c.1589+1G>A" "r.(?)" "p.(=)" "" ""
"0000406271" "00015048" "97" "1754" "1" "1754" "1" "c.1754+1G>A" "r.(?)" "p.(=)" "" ""
"0000406272" "00023887" "97" "1589" "2" "1589" "2" "c.1589+2T>G" "r.spl" "p.(=)" "" ""
"0000406272" "00015048" "97" "1754" "2" "1754" "2" "c.1754+2T>G" "r.spl" "p.(=)" "" ""
"0000406273" "00023887" "97" "1569" "0" "1569" "0" "c.1569dup" "r.spl" "p.(Gln524Serfs*38)" "" ""
"0000406273" "00015048" "97" "1734" "0" "1734" "0" "c.1734dup" "r.spl" "p.(Gln579Serfs*38)" "" ""
"0000406274" "00023887" "97" "1641" "0" "1653" "0" "c.1641_1653del" "r.(?)" "p.(Val548Phefs*57)" "" ""
"0000406274" "00015048" "97" "1806" "0" "1818" "0" "c.1806_1818del" "r.(?)" "p.(Val603Phefs*57)" "" ""
"0000406275" "00023887" "97" "1705" "1" "1705" "1" "c.1705+1G>C" "r.spl" "p.(=)" "" ""
"0000406275" "00015048" "97" "1870" "1" "1870" "1" "c.1870+1G>C" "r.spl" "p.(=)" "" ""
"0000406276" "00023887" "97" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Glu604*)" "" ""
"0000406276" "00015048" "97" "1975" "0" "1975" "0" "c.1975G>T" "r.(?)" "p.(Glu659*)" "" ""
"0000406277" "00023887" "97" "1774" "0" "1774" "0" "c.1774del" "r.(?)" "p.(Glu592Asnfs*17)" "" ""
"0000406277" "00015048" "97" "1939" "0" "1939" "0" "c.1939del" "r.(?)" "p.(Glu647Asnfs*17)" "" ""
"0000406278" "00023887" "97" "1847" "4" "1847" "7" "c.1847+4_1847+7del" "r.(spl?)" "p.(=)" "" ""
"0000406278" "00015048" "97" "2012" "4" "2012" "7" "c.2012+4_2012+7del" "r.(spl?)" "p.(=)" "" ""
"0000406279" "00023887" "97" "1961" "0" "1961" "0" "c.1961del" "r.(?)" "p.(Asp654Valfs*17)" "" ""
"0000406279" "00015048" "97" "2126" "0" "2126" "0" "c.2126del" "r.(?)" "p.(Asp709Valfs*17)" "" ""
"0000406280" "00023887" "97" "1881" "0" "1882" "0" "c.1881_1882del" "r.(?)" "p.(Arg627Serfs*7)" "" ""
"0000406280" "00015048" "97" "2046" "0" "2047" "0" "c.2046_2047del" "r.(?)" "p.(Arg682Serfs*7)" "" ""
"0000406281" "00023887" "97" "1879" "0" "1879" "0" "c.1879del" "r.(?)" "p.(Arg627Glufs*6)" "" ""
"0000406281" "00015048" "97" "2044" "0" "2044" "0" "c.2044del" "r.(?)" "p.(Arg682Glufs*6)" "" ""
"0000406282" "00023887" "97" "1997" "0" "1997" "0" "c.1997del" "r.(?)" "p.(Pro666Leufs*5)" "" ""
"0000406282" "00015048" "97" "2162" "0" "2162" "0" "c.2162del" "r.(?)" "p.(Pro721Leufs*5)" "" ""
"0000406283" "00023887" "97" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Asp654Gly)" "" ""
"0000406283" "00015048" "97" "2126" "0" "2126" "0" "c.2126A>G" "r.(?)" "p.(Asp709Gly)" "" ""
"0000406284" "00023887" "97" "1924" "0" "1924" "0" "c.1924C>T" "r.(?)" "p.(Gln642*)" "" ""
"0000406284" "00015048" "97" "2089" "0" "2089" "0" "c.2089C>T" "r.(?)" "p.(Gln697*)" "" ""
"0000406285" "00023887" "97" "1954" "0" "1954" "0" "c.1954A>G" "r.(?)" "p.(Thr652Ala)" "" ""
"0000406285" "00015048" "97" "2119" "0" "2119" "0" "c.2119A>G" "r.(?)" "p.(Thr707Ala)" "" ""
"0000406286" "00023887" "97" "2097" "0" "2097" "0" "c.2097del" "r.(?)" "p.(Lys699Asnfs*24)" "" ""
"0000406286" "00015048" "97" "2262" "0" "2262" "0" "c.2262del" "r.(?)" "p.(Lys754Asnfs*24)" "" ""
"0000406287" "00023887" "97" "2173" "0" "2174" "0" "c.2173_2174del" "r.(?)" "p.(Ile725Serfs*12)" "" ""
"0000406287" "00015048" "97" "2338" "0" "2339" "0" "c.2338_2339del" "r.(?)" "p.(Ile780Serfs*12)" "" ""
"0000406288" "00023887" "97" "2348" "0" "2348" "0" "c.2348A>G" "r.(?)" "p.(Gln783Arg)" "" ""
"0000406288" "00015048" "97" "2513" "0" "2513" "0" "c.2513A>G" "r.(?)" "p.(Gln838Arg)" "" ""
"0000406289" "00023887" "97" "2454" "0" "2454" "0" "c.2454del" "r.(?)" "p.(Lys819Argfs*8)" "" ""
"0000406289" "00015048" "97" "2619" "0" "2619" "0" "c.2619del" "r.(?)" "p.(Lys874Argfs*8)" "" ""
"0000406290" "00023887" "97" "2496" "0" "2496" "0" "c.2496G>A" "r.(?)" "p.(=)" "" ""
"0000406290" "00015048" "97" "2661" "0" "2661" "0" "c.2661G>A" "r.(?)" "p.(=)" "" ""
"0000406291" "00023887" "97" "2783" "0" "2783" "0" "c.2783T>C" "r.(?)" "p.(Leu928Pro)" "" ""
"0000406291" "00015048" "97" "2948" "0" "2948" "0" "c.2948T>C" "r.(?)" "p.(Leu983Pro)" "" ""
"0000406292" "00023887" "97" "2734" "0" "2734" "0" "c.2734G>T" "r.(?)" "p.(Glu912*)" "" ""
"0000406292" "00015048" "97" "2899" "0" "2899" "0" "c.2899G>T" "r.(?)" "p.(Glu967*)" "" ""
"0000406293" "00023887" "97" "2818" "0" "2818" "0" "c.2818A>T" "r.(?)" "p.(Lys940*)" "" ""
"0000406293" "00015048" "97" "2983" "0" "2983" "0" "c.2983A>T" "r.(?)" "p.(Lys995*)" "" ""
"0000406294" "00023887" "97" "2783" "0" "2783" "0" "c.2783T>C" "r.(?)" "p.(Leu928Pro)" "" ""
"0000406294" "00015048" "97" "2948" "0" "2948" "0" "c.2948T>C" "r.(?)" "p.(Leu983Pro)" "" ""
"0000406295" "00023887" "97" "33" "0" "33" "0" "c.33T>A" "r.(?)" "p.(Cys11*)" "" ""
"0000406295" "00015048" "97" "33" "0" "33" "0" "c.33T>A" "r.(?)" "p.(Cys11*)" "" ""
"0000406296" "00023887" "97" "71" "0" "73" "0" "c.71_73delinsAG" "r.(?)" "p.(Ile24Lysfs*25)" "" ""
"0000406296" "00015048" "97" "71" "0" "73" "0" "c.71_73delinsAG" "r.(?)" "p.(Ile24Lysfs*25)" "" ""
"0000406297" "00023887" "97" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" ""
"0000406297" "00015048" "97" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Tyr323Cys)" "" ""
"0000406298" "00023887" "97" "784" "-2" "784" "-2" "c.784-2A>G" "r.spl" "p.?" "" ""
"0000406298" "00015048" "97" "949" "-2" "949" "-2" "c.949-2A>G" "r.spl" "p.?" "" ""
"0000406299" "00023887" "97" "784" "-2" "784" "-2" "c.784-2A>C" "r.spl" "p.?" "" ""
"0000406299" "00015048" "97" "949" "-2" "949" "-2" "c.949-2A>C" "r.spl" "p.?" "" ""
"0000406300" "00023887" "97" "870" "1" "870" "1" "c.870+1G>A" "r.spl" "p.?" "" ""
"0000406300" "00015048" "97" "1035" "1" "1035" "1" "c.1035+1G>A" "r.spl" "p.?" "" ""
"0000406301" "00023887" "97" "876" "0" "878" "0" "c.876_878del" "r.(?)" "p.(Val294del)" "" ""
"0000406301" "00015048" "97" "1041" "0" "1043" "0" "c.1041_1043del" "r.(?)" "p.(Val349del)" "" ""
"0000406302" "00023887" "97" "907" "0" "907" "0" "c.907A>G" "r.(?)" "p.(Ser303Gly)" "" ""
"0000406302" "00015048" "97" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Ser358Gly)" "" ""
"0000406303" "00023887" "97" "1065" "5" "1065" "5" "c.1065+5G>A" "r.spl" "p.?" "" ""
"0000406303" "00015048" "97" "1230" "5" "1230" "5" "c.1230+5G>A" "r.spl" "p.?" "" ""
"0000406304" "00023887" "97" "1201" "0" "1201" "0" "c.1201G>C" "r.(?)" "p.(Gly401Arg)" "" ""
"0000406304" "00015048" "97" "1366" "0" "1366" "0" "c.1366G>C" "r.(?)" "p.(Gly456Arg)" "" ""
"0000406305" "00023887" "97" "1262" "0" "1264" "0" "c.1262_1264dup" "r.(?)" "p.(Ile421dup)" "" ""
"0000406305" "00015048" "97" "1427" "0" "1429" "0" "c.1427_1429dup" "r.(?)" "p.(Ile476dup)" "" ""
"0000406306" "00023887" "97" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Cys435Tyr)" "" ""
"0000406306" "00015048" "97" "1469" "0" "1469" "0" "c.1469G>A" "r.(?)" "p.(Cys490Tyr)" "" ""
"0000406307" "00023887" "97" "1301" "0" "1301" "0" "c.1301T>G" "r.(?)" "p.(Leu434Arg)" "" ""
"0000406307" "00015048" "97" "1466" "0" "1466" "0" "c.1466T>G" "r.(?)" "p.(Leu489Arg)" "" ""
"0000406308" "00023887" "97" "1670" "0" "1670" "0" "c.1670G>C" "r.(?)" "p.(Arg557Pro)" "" ""
"0000406308" "00015048" "97" "1835" "0" "1835" "0" "c.1835G>C" "r.(?)" "p.(Arg612Pro)" "" ""
"0000406309" "00023887" "97" "1847" "2" "1847" "2" "c.1847+2T>G" "r.spl" "p.?" "" ""
"0000406309" "00015048" "97" "2012" "2" "2012" "2" "c.2012+2T>G" "r.spl" "p.?" "" ""
"0000406310" "00023887" "97" "2153" "0" "2153" "0" "c.2153C>A" "r.(?)" "p.(Ala718Glu)" "" ""
"0000406310" "00015048" "97" "2318" "0" "2318" "0" "c.2318C>A" "r.(?)" "p.(Ala773Glu)" "" ""
"0000406311" "00023887" "97" "2141" "0" "2141" "0" "c.2141G>A" "r.(?)" "p.(Trp714*)" "" ""
"0000406311" "00015048" "97" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Trp769*)" "" ""
"0000406312" "00023887" "97" "2553" "0" "2554" "0" "c.2553_2554insA" "r.(?)" "p.(His852Thrfs*3)" "" ""
"0000406312" "00015048" "97" "2718" "0" "2719" "0" "c.2718_2719insA" "r.(?)" "p.(His907Thrfs*3)" "" ""
"0000406313" "00023887" "97" "2654" "0" "2654" "0" "c.2654G>A" "r.(?)" "p.(Arg885His)" "" ""
"0000406313" "00015048" "97" "2819" "0" "2819" "0" "c.2819G>A" "r.(?)" "p.(Arg940His)" "" ""
"0000406314" "00023887" "97" "2617" "0" "2617" "0" "c.2617G>T" "r.(?)" "p.(Glu873*)" "" ""
"0000406314" "00015048" "97" "2782" "0" "2782" "0" "c.2782G>T" "r.(?)" "p.(Glu928*)" "" ""
"0000406315" "00023887" "97" "2681" "0" "2681" "0" "c.2681T>A" "r.(?)" "p.(Leu894*)" "" ""
"0000406315" "00015048" "97" "2846" "0" "2846" "0" "c.2846T>A" "r.(?)" "p.(Leu949*)" "" ""
"0000406316" "00023887" "97" "2638" "0" "2642" "0" "c.2638_2642del" "r.(?)" "p.(Phe880Alafs*21)" "" ""
"0000406316" "00015048" "97" "2803" "0" "2807" "0" "c.2803_2807del" "r.(?)" "p.(Phe935Alafs*21)" "" ""
"0000406317" "00023887" "97" "2846" "0" "2846" "0" "c.2846T>G" "r.(?)" "p.(Leu949Arg)" "" ""
"0000406317" "00015048" "97" "3011" "0" "3011" "0" "c.3011T>G" "r.(?)" "p.(Leu1004Arg)" "" ""
"0000406318" "00023887" "97" "-234" "0" "32" "1" "c.(?_-234)_(32+1_33-1)del" "r.?" "p.?" "" ""
"0000406318" "00015048" "97" "-234" "0" "32" "1" "c.(?_-234)_(32+1_33-1)del" "r.?" "p.?" "" ""
"0000406319" "00023887" "97" "1213" "-1" "1312" "1" "c.(1212+1_1213-1)_(1312+1_1313-1)del" "r.?" "p.?" "" ""
"0000406319" "00015048" "97" "1378" "-1" "1477" "1" "c.(1377+1_1378-1)_(1477+1_1478-1)del" "r.?" "p.?" "" ""
"0000406320" "00023887" "97" "33" "-1" "351" "1" "c.(32+1_33-1)_(351+1_352-1)dup" "r.?" "p.?" "" ""
"0000406320" "00015048" "97" "33" "-1" "351" "1" "c.(32+1_33-1)_(351+1_352-1)dup" "r.?" "p.?" "" ""
"0000406321" "00023887" "97" "1706" "-1" "2275" "1" "c.(1705+1_1706-1)_(2275+1_2276-1)dup" "r.?" "p.?" "" ""
"0000406321" "00015048" "97" "1871" "-1" "2440" "1" "c.(1870+1_1871-1)_(2440+1_2441-1)dup" "r.?" "p.?" "" ""
"0000406322" "00023887" "97" "" "0" "" "0" "c.(2166+1_2167-1)_(2275+1_2276_1)del" "r.?" "p.?" "" ""
"0000406322" "00015048" "97" "2332" "-1" "2440" "1" "c.(2331+1_2332-1)_(2440+1_2441-1)del" "r.?" "p.?" "" ""
"0000406323" "00023887" "97" "2276" "-1" "2707" "1" "c.(2275+1_2276-1)_(2707+1_2708-1)dup" "r.?" "p.?" "22i_26i" ""
"0000406323" "00015048" "97" "2441" "-1" "2872" "1" "c.(2440+1_2441-1)_(2872+1_2873-1)dup" "r.?" "p.?" "" ""
"0000406324" "00023887" "95" "449" "-34" "449" "-34" "c.449-34dup" "r.(?)" "p.(=)" "" ""
"0000406324" "00015048" "95" "449" "-34" "449" "-34" "c.449-34dup" "r.(?)" "p.(=)" "" ""
"0000406325" "00023887" "97" "1184" "0" "1184" "0" "c.1184T>G" "r.(?)" "p.(Val395Gly)" "" ""
"0000406325" "00015048" "97" "1349" "0" "1349" "0" "c.1349T>G" "r.(?)" "p.(Val450Gly)" "" ""
"0000406326" "00023887" "97" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Pro400Thr)" "" ""
"0000406326" "00015048" "97" "1363" "0" "1363" "0" "c.1363C>A" "r.(?)" "p.(Pro455Thr)" "" ""
"0000406327" "00023887" "97" "1141" "0" "1141" "0" "c.1141A>T" "r.(?)" "p.(Thr381Ser)" "" ""
"0000406327" "00015048" "97" "1306" "0" "1306" "0" "c.1306A>T" "r.(?)" "p.(Thr436Ser)" "" ""
"0000406328" "00023887" "97" "1570" "0" "1571" "0" "c.1570_1571insT" "r.(?)" "p.(Gln524Leufs*38)" "" ""
"0000406328" "00015048" "97" "1735" "0" "1736" "0" "c.1735_1736insT" "r.(?)" "p.(Gln579Leufs*38)" "" ""
"0000406329" "00023887" "97" "1610" "0" "1621" "0" "c.1610_1621del" "r.(?)" "p.(His537_Thr541delinsPro)" "" ""
"0000406329" "00015048" "97" "1775" "0" "1786" "0" "c.1775_1786del" "r.(?)" "p.(His592_Thr596delinsPro)" "" ""
"0000406330" "00023887" "97" "1667" "0" "1667" "0" "c.1667T>A" "r.(?)" "p.(Val556Glu)" "" ""
"0000406330" "00015048" "97" "1832" "0" "1832" "0" "c.1832T>A" "r.(?)" "p.(Val611Glu)" "" ""
"0000406331" "00023887" "97" "1886" "0" "1886" "0" "c.1886C>G" "r.(?)" "p.(Ser629*)" "" ""
"0000406331" "00015048" "97" "2051" "0" "2051" "0" "c.2051C>G" "r.(?)" "p.(Ser684*)" "" ""
"0000406332" "00023887" "95" "2014" "-40" "2014" "-40" "c.2014-40G>C" "r.(?)" "p.(=)" "" ""
"0000406332" "00015048" "95" "2179" "-40" "2179" "-40" "c.2179-40G>C" "r.(?)" "p.(=)" "" ""
"0000406333" "00023887" "97" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Val903Ile)" "" ""
"0000406333" "00015048" "97" "2872" "0" "2872" "0" "c.2872G>A" "r.(?)" "p.(Val958Ile)" "" ""
"0000406334" "00023887" "97" "2818" "1" "2818" "1" "c.2818+1G>A" "r.spl" "p.?" "" ""
"0000406334" "00015048" "97" "2983" "1" "2983" "1" "c.2983+1G>A" "r.spl" "p.?" "" ""
"0000406335" "00023887" "77" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000406335" "00015048" "77" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000406336" "00023887" "77" "190" "0" "194" "0" "c.190_194del" "r.(?)" "p.(Ser64Aspfs*7)" "" ""
"0000406336" "00015048" "77" "190" "0" "194" "0" "c.190_194del" "r.(?)" "p.(Ser64Aspfs*7)" "" ""
"0000406337" "00023887" "13" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000406337" "00015048" "13" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000406338" "00023887" "77" "2797" "0" "2797" "0" "c.2797G>T" "r.(?)" "p.(Val933Phe)" "" ""
"0000406338" "00015048" "77" "2962" "0" "2962" "0" "c.2962G>T" "r.(?)" "p.(Val988Phe)" "" ""
"0000406339" "00023887" "77" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" ""
"0000406339" "00015048" "77" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" ""
"0000406340" "00023887" "13" "190" "0" "194" "0" "c.190_194del" "r.(?)" "p.(Ser64Aspfs*7)" "" ""
"0000406340" "00015048" "13" "190" "0" "194" "0" "c.190_194del" "r.(?)" "p.(Ser64Aspfs*7)" "" ""
"0000406341" "00023887" "77" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(=)" "" ""
"0000406341" "00015048" "77" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000406342" "00023887" "13" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000406342" "00015048" "13" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000406343" "00023887" "77" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" ""
"0000406343" "00015048" "77" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" ""
"0000406344" "00023887" "13" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" ""
"0000406344" "00015048" "13" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" ""
"0000406345" "00023887" "13" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" ""
"0000406345" "00015048" "13" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" ""
"0000406346" "00023887" "13" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" ""
"0000406346" "00015048" "13" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" ""
"0000453963" "00023887" "97" "1443" "1" "1443" "1" "c.1443+1G>T" "r.spl?" "p.?" "14i" ""
"0000453963" "00015048" "97" "1608" "1" "1608" "1" "c.1608+1G>T" "r.spl?" "p.?" "16i" ""
"0000474405" "00023887" "99" "1963" "0" "1964" "0" "c.1963_1964dup" "r.(?)" "p.(Lys656Serfs*16)" "20" ""
"0000474405" "00015048" "99" "2128" "0" "2129" "0" "c.2128_2129dup" "r.(?)" "p.(Lys711Serfs*16)" "22" ""
"0000474406" "00023887" "55" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "12" ""
"0000474406" "00015048" "55" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "14" ""
"0000474407" "00023887" "75" "1848" "-10" "1848" "-8" "c.1848-10_1848-8del" "r.(=)" "p.(=)" "19i" ""
"0000474407" "00015048" "75" "2013" "-10" "2013" "-8" "c.2013-10_2013-8del" "r.(=)" "p.(=)" "21i" ""
"0000484075" "00023887" "55" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Gly768Ser)" "" ""
"0000484075" "00015048" "55" "2467" "0" "2467" "0" "c.2467G>A" "r.(?)" "p.(Gly823Ser)" "25" ""
"0000487036" "00023887" "99" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(His45Serfs*28)" "2" ""
"0000487036" "00015048" "99" "132" "0" "132" "0" "c.132dup" "r.(?)" "p.(His45Serfs*28)" "2" ""
"0000487410" "00023887" "99" "262" "0" "263" "0" "c.262_263delinsC" "r.(?)" "p.(Phe88Leufs*6)" "2" ""
"0000487410" "00015048" "99" "262" "0" "263" "0" "c.262_263delinsC" "r.(?)" "p.(Phe88Leufs*6)" "2" ""
"0000487440" "00023887" "99" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Gln483*)" "15" ""
"0000487440" "00015048" "99" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Gln538*)" "17" ""
"0000487441" "00023887" "99" "193" "0" "194" "0" "c.193_194del" "r.(?)" "p.(Leu65Aspfs*7)" "2" ""
"0000487441" "00015048" "99" "193" "0" "194" "0" "c.193_194del" "r.(?)" "p.(Leu65Aspfs*7)" "2" ""
"0000518775" "00023887" "50" "-8" "0" "-8" "0" "c.-8C>T" "r.(?)" "p.(=)" "" ""
"0000518775" "00015048" "50" "-8" "0" "-8" "0" "c.-8C>T" "r.(?)" "p.(=)" "" ""
"0000518776" "00023887" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" ""
"0000518776" "00015048" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" ""
"0000518777" "00023887" "30" "33" "-4" "33" "-4" "c.33-4T>G" "r.spl?" "p.?" "" ""
"0000518777" "00015048" "30" "33" "-4" "33" "-4" "c.33-4T>G" "r.spl?" "p.?" "" ""
"0000518778" "00023887" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ile24Val)" "" ""
"0000518778" "00015048" "30" "70" "0" "70" "0" "c.70A>G" "r.(?)" "p.(Ile24Val)" "" ""
"0000518779" "00023887" "30" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Leu30=)" "" ""
"0000518779" "00015048" "30" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Leu30=)" "" ""
"0000518780" "00023887" "30" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000518780" "00015048" "30" "113" "0" "130" "0" "c.113_130del" "r.(?)" "p.(Arg38_Ser43del)" "" ""
"0000518781" "00023887" "30" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Gln61Arg)" "" ""
"0000518781" "00015048" "30" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(Gln61Arg)" "" ""
"0000518782" "00023887" "50" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Tyr82Cys)" "" ""
"0000518782" "00015048" "50" "245" "0" "245" "0" "c.245A>G" "r.(?)" "p.(Tyr82Cys)" "" ""
"0000518783" "00023887" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" ""
"0000518783" "00015048" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" ""
"0000518784" "00023887" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Val173Ile)" "" ""
"0000518784" "00015048" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Val173Ile)" "" ""
"0000518785" "00023887" "50" "556" "534" "556" "534" "c.556+534G>A" "r.(=)" "p.(=)" "" ""
"0000518785" "00015048" "50" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "" ""
"0000518786" "00023887" "10" "625" "-5528" "625" "-5528" "c.625-5528C>T" "r.(=)" "p.(=)" "" ""
"0000518786" "00015048" "10" "679" "-8" "679" "-8" "c.679-8C>T" "r.(=)" "p.(=)" "" ""
"0000518787" "00023887" "10" "625" "-12" "625" "-12" "c.625-12T>A" "r.(=)" "p.(=)" "" ""
"0000518787" "00015048" "10" "790" "-12" "790" "-12" "c.790-12T>A" "r.(=)" "p.(=)" "" ""
"0000518788" "00023887" "50" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Arg290=)" "" ""
"0000518788" "00015048" "50" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Arg345=)" "" ""
"0000518789" "00023887" "50" "965" "0" "967" "0" "c.965_967del" "r.(?)" "p.(Met322del)" "" ""
"0000518789" "00015048" "50" "1130" "0" "1132" "0" "c.1130_1132del" "r.(?)" "p.(Met377del)" "" ""
"0000518790" "00023887" "30" "1096" "0" "1096" "0" "c.1096C>A" "r.(?)" "p.(Arg366=)" "" ""
"0000518790" "00015048" "30" "1261" "0" "1261" "0" "c.1261C>A" "r.(?)" "p.(Arg421=)" "" ""
"0000518791" "00023887" "30" "1137" "0" "1137" "0" "c.1137T>G" "r.(?)" "p.(Pro379=)" "" ""
"0000518791" "00015048" "30" "1302" "0" "1302" "0" "c.1302T>G" "r.(?)" "p.(Pro434=)" "" ""
"0000518792" "00023887" "50" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000518792" "00015048" "50" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000518793" "00023887" "50" "1393" "0" "1393" "0" "c.1393G>T" "r.(?)" "p.(Val465Phe)" "" ""
"0000518793" "00015048" "50" "1558" "0" "1558" "0" "c.1558G>T" "r.(?)" "p.(Val520Phe)" "" ""
"0000518794" "00023887" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Val469Ile)" "" ""
"0000518794" "00015048" "50" "1570" "0" "1570" "0" "c.1570G>A" "r.(?)" "p.(Val524Ile)" "" ""
"0000518795" "00023887" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Leu528=)" "" ""
"0000518795" "00015048" "30" "1749" "0" "1749" "0" "c.1749C>T" "r.(?)" "p.(Leu583=)" "" ""
"0000518796" "00023887" "50" "1621" "0" "1621" "0" "c.1621A>G" "r.(?)" "p.(Thr541Ala)" "" ""
"0000518796" "00015048" "50" "1786" "0" "1786" "0" "c.1786A>G" "r.(?)" "p.(Thr596Ala)" "" ""
"0000518797" "00023887" "90" "1780" "0" "1783" "0" "c.1780_1783del" "r.(?)" "p.(Phe594LysfsTer14)" "" ""
"0000518797" "00015048" "90" "1945" "0" "1948" "0" "c.1945_1948del" "r.(?)" "p.(Phe649LysfsTer14)" "" ""
"0000518798" "00023887" "10" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(Ala641=)" "" ""
"0000518798" "00015048" "10" "2088" "0" "2088" "0" "c.2088G>A" "r.(?)" "p.(Ala696=)" "" ""
"0000518799" "00023887" "30" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(Ala641=)" "" ""
"0000518799" "00015048" "30" "2088" "0" "2088" "0" "c.2088G>A" "r.(?)" "p.(Ala696=)" "" ""
"0000518800" "00023887" "50" "1958" "0" "1958" "0" "c.1958T>G" "r.(?)" "p.(Val653Gly)" "" ""
"0000518800" "00015048" "50" "2123" "0" "2123" "0" "c.2123T>G" "r.(?)" "p.(Val708Gly)" "" ""
"0000518801" "00023887" "50" "2048" "0" "2048" "0" "c.2048G>A" "r.(?)" "p.(Arg683His)" "" ""
"0000518801" "00015048" "50" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Arg738His)" "" ""
"0000518802" "00023887" "70" "2275" "1" "2275" "1" "c.2275+1G>T" "r.spl?" "p.?" "" ""
"0000518802" "00015048" "70" "2440" "1" "2440" "1" "c.2440+1G>T" "r.spl?" "p.?" "" ""
"0000518803" "00023887" "30" "2276" "-4" "2276" "-4" "c.2276-4dup" "r.spl?" "p.?" "" ""
"0000518803" "00015048" "30" "2441" "-4" "2441" "-4" "c.2441-4dup" "r.spl?" "p.?" "" ""
"0000518804" "00023887" "10" "2356" "-16" "2356" "-16" "c.2356-16T>A" "r.(=)" "p.(=)" "" ""
"0000518804" "00015048" "10" "2521" "-16" "2521" "-16" "c.2521-16T>A" "r.(=)" "p.(=)" "" ""
"0000518805" "00023887" "10" "2497" "-18" "2497" "-18" "c.2497-18T>C" "r.(=)" "p.(=)" "" ""
"0000518805" "00015048" "10" "2662" "-18" "2662" "-18" "c.2662-18T>C" "r.(=)" "p.(=)" "" ""
"0000518806" "00023887" "90" "2681" "0" "2681" "0" "c.2681dup" "r.(?)" "p.(Leu894PhefsTer9)" "" ""
"0000518806" "00015048" "90" "2846" "0" "2846" "0" "c.2846dup" "r.(?)" "p.(Leu949PhefsTer9)" "" ""
"0000518807" "00023887" "50" "2708" "-10" "2708" "-10" "c.2708-10C>G" "r.(=)" "p.(=)" "" ""
"0000518807" "00015048" "50" "2873" "-10" "2873" "-10" "c.2873-10C>G" "r.(=)" "p.(=)" "" ""
"0000518808" "00023887" "90" "2708" "0" "2711" "0" "c.2708_2711del" "r.(?)" "p.(Val903GlyfsTer3)" "" ""
"0000518808" "00015048" "90" "2873" "0" "2876" "0" "c.2873_2876del" "r.(?)" "p.(Val958GlyfsTer3)" "" ""
"0000518809" "00023887" "50" "2786" "0" "2786" "0" "c.2786C>G" "r.(?)" "p.(Thr929Ser)" "" ""
"0000518809" "00015048" "50" "2951" "0" "2951" "0" "c.2951C>G" "r.(?)" "p.(Thr984Ser)" "" ""
"0000518810" "00023887" "70" "2818" "6" "2818" "6" "c.2818+6T>C" "r.(=)" "p.(=)" "" ""
"0000518810" "00015048" "70" "2983" "6" "2983" "6" "c.2983+6T>C" "r.(=)" "p.(=)" "" ""
"0000518811" "00023887" "30" "2819" "-4" "2819" "-4" "c.2819-4A>G" "r.spl?" "p.?" "" ""
"0000518811" "00015048" "30" "2984" "-4" "2984" "-4" "c.2984-4A>G" "r.spl?" "p.?" "" ""
"0000518812" "00023887" "30" "2819" "-4" "2819" "-4" "c.2819-4A>G" "r.spl?" "p.?" "" ""
"0000518812" "00015048" "30" "2984" "-4" "2984" "-4" "c.2984-4A>G" "r.spl?" "p.?" "" ""
"0000597360" "00023887" "99" "209" "0" "209" "0" "c.209T>A" "r.(?)" "p.(Leu70*)" "2" ""
"0000597360" "00015048" "99" "209" "0" "209" "0" "c.209T>A" "r.(?)" "p.(Leu70*)" "2" ""
"0000598564" "00023887" "97" "637" "0" "637" "0" "c.637del" "r.(?)" "p.(Glu213Argfs*15)" "6" ""
"0000598564" "00015048" "97" "802" "0" "802" "0" "c.802del" "r.(?)" "p.(Glu268Argfs*15)" "8" ""
"0000604199" "00023887" "99" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Glu604*)" "19" ""
"0000604199" "00015048" "99" "1975" "0" "1975" "0" "c.1975G>T" "r.(?)" "p.(Glu659*)" "21" ""
"0000608451" "00023887" "30" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "" ""
"0000608451" "00015048" "30" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Tyr80Cys)" "" ""
"0000608452" "00023887" "30" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Val140=)" "" ""
"0000608452" "00015048" "30" "420" "0" "420" "0" "c.420G>T" "r.(?)" "p.(Val140=)" "" ""
"0000608453" "00023887" "90" "639" "0" "640" "0" "c.639_640del" "r.(?)" "p.(Lys214AsnfsTer2)" "" ""
"0000608453" "00015048" "90" "804" "0" "805" "0" "c.804_805del" "r.(?)" "p.(Lys269AsnfsTer2)" "" ""
"0000608454" "00023887" "70" "985" "-15" "1066" "-62" "c.985-15_1066-62del" "r.?" "p.?" "" ""
"0000608454" "00015048" "70" "1150" "-15" "1231" "-62" "c.1150-15_1231-62del" "r.?" "p.?" "" ""
"0000608455" "00023887" "90" "1783" "0" "1783" "0" "c.1783dup" "r.(?)" "p.(Glu595GlyfsTer4)" "" ""
"0000608455" "00015048" "90" "1948" "0" "1948" "0" "c.1948dup" "r.(?)" "p.(Glu650GlyfsTer4)" "" ""
"0000621225" "00023887" "50" "-3" "0" "-3" "0" "c.-3G>A" "r.(?)" "p.(=)" "" ""
"0000621225" "00015048" "50" "-3" "0" "-3" "0" "c.-3G>A" "r.(?)" "p.(=)" "" ""
"0000621226" "00023887" "30" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Lys79=)" "" ""
"0000621226" "00015048" "30" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Lys79=)" "" ""
"0000621227" "00023887" "10" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Ala192Val)" "" ""
"0000621227" "00015048" "10" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ala210Val)" "" ""
"0000621228" "00023887" "30" "786" "0" "786" "0" "c.786A>G" "r.(?)" "p.(Lys262=)" "" ""
"0000621228" "00015048" "30" "951" "0" "951" "0" "c.951A>G" "r.(?)" "p.(Lys317=)" "" ""
"0000621229" "00023887" "50" "1334" "0" "1334" "0" "c.1334G>T" "r.(?)" "p.(Arg445Leu)" "" ""
"0000621229" "00015048" "50" "1499" "0" "1499" "0" "c.1499G>T" "r.(?)" "p.(Arg500Leu)" "" ""
"0000621230" "00023887" "90" "1687" "0" "1687" "0" "c.1687C>T" "r.(?)" "p.(Gln563Ter)" "" ""
"0000621230" "00015048" "90" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Gln618Ter)" "" ""
"0000621231" "00023887" "90" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733Ter)" "" ""
"0000621231" "00015048" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788Ter)" "" ""
"0000629286" "00023887" "90" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000629286" "00015048" "90" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000630994" "00023887" "97" "1771" "-1" "1771" "-1" "c.1771-1G>A" "r.spl?" "p.?" "18i" ""
"0000630994" "00015048" "97" "1936" "-1" "1936" "-1" "c.1936-1G>A" "r.spl?" "p.?" "20i" ""
"0000631978" "00015048" "50" "2635" "0" "2635" "0" "c.2635C>T" "r.(?)" "p.(Arg879*)" "" ""
"0000644240" "00023887" "99" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(Arg733*)" "22" ""
"0000644240" "00015048" "99" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Arg788*)" "24" ""
"0000644241" "00023887" "77" "1635" "0" "1635" "0" "c.1635C>G" "r.(?)" "p.(Ser545Arg)" "17" ""
"0000644241" "00015048" "77" "1800" "0" "1800" "0" "c.1800C>G" "r.(?)" "p.(Ser600Arg)" "19" ""
"0000644242" "00023887" "99" "629" "0" "629" "0" "c.629C>A" "r.(?)" "p.(Ser210*)" "6" ""
"0000644242" "00015048" "99" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ser265*)" "8" ""
"0000644243" "00023887" "77" "2205" "0" "2205" "0" "c.2205del" "r.(?)" "p.(Ser736Leufs*64)" "" ""
"0000644243" "00015048" "77" "2370" "0" "2370" "0" "c.2370del" "r.(?)" "p.(Ser791Leufs*64)" "" ""
"0000647121" "00023887" "90" "2825" "0" "2828" "0" "c.2825_2828del" "r.(?)" "p.(Val942Glufs*25)" "" ""
"0000651163" "00023887" "30" "575" "0" "575" "0" "c.575C>T" "" "p.(Ala192Val)" "" ""
"0000651163" "00015048" "30" "629" "0" "629" "0" "c.629C>T" "" "p.(Ala210Val)" "" ""
"0000651164" "00023887" "50" "1146" "0" "1146" "0" "c.1146A>G" "r.(?)" "p.(Ile382Met)" "" ""
"0000651164" "00015048" "50" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Ile437Met)" "" ""
"0000651165" "00023887" "30" "1608" "0" "1608" "0" "c.1608A>C" "r.(=)" "p.(=)" "" ""
"0000651165" "00015048" "30" "1773" "0" "1773" "0" "c.1773A>C" "r.(=)" "p.(=)" "" ""
"0000651166" "00023887" "90" "2059" "0" "2060" "0" "c.2059_2060del" "r.(?)" "p.(Glu687Thrfs*7)" "" ""
"0000651166" "00015048" "90" "2224" "0" "2225" "0" "c.2224_2225del" "r.(?)" "p.(Glu742Thrfs*7)" "" ""
"0000651167" "00023887" "30" "5169" "0" "5169" "0" "c.*2286T>C" "r.(=)" "p.(=)" "" ""
"0000651167" "00015048" "30" "5334" "0" "5334" "0" "c.*2286T>C" "r.(=)" "p.(=)" "" ""
"0000653464" "00023887" "90" "2197" "0" "2197" "0" "c