### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AIPL1) # 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}}" "AIPL1" "aryl hydrocarbon receptor interacting protein-like 1" "17" "p13.1" "unknown" "NG_008474.1" "UD_132118266085" "" "http://www.LOVD.nl/AIPL1" "" "1" "359" "23746" "604392" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/AIPL1_NM_014336.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-01-26 21:38:39" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002285" "AIPL1" "transcript variant 1" "003" "NM_014336.3" "" "NP_055151.3" "" "" "" "-95" "2876" "1155" "6338519" "6327059" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "02508" "LCA4" "Leber congenital amaurosis, type 4 (LCA4)" "AD;AR" "604393" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-05-20 16:29:12" "04209" "RPad" "retinitis pigmentosa, autosomal dominant (RPad)" "" "" "" "" "" "00006" "2015-02-27 18:53:37" "" "" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AIPL1" "02508" ## Individuals ## Do not remove or alter this header ## ## Count = 468 "{{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}}" "00033140" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033152" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033159" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033161" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033380" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033381" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033382" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033383" "" "" "" "1" "" "00234" "" "" "M" "?" "" "" "0" "" "" "Europe, north" "" "00033384" "" "" "" "1" "" "00234" "" "" "M" "?" "" "" "0" "" "" "Europe, north" "" "00033385" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033386" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033387" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033388" "" "" "" "1" "" "00234" "" "" "M" "no" "Viet Nam" "" "0" "" "" "Vietnamese" "" "00033389" "" "" "" "1" "" "00234" "" "" "M" "no" "Viet Nam" "" "0" "" "" "Vietnamese" "" "00033390" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033391" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033392" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033393" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033394" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033395" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033396" "" "" "" "1" "" "00234" "" "" "?" "?" "Spain" "" "0" "" "" "" "" "00033397" "" "" "" "1" "" "00234" "" "" "?" "?" "Spain" "" "0" "" "" "" "" "00033398" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033399" "" "" "" "1" "" "00234" "" "4 generation family, 6 affected, 5 carriers" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033400" "" "" "" "1" "" "00234" "" "4 generation family, 6 affected, 5 carriers" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033401" "" "" "" "1" "" "00234" "" "4 generation family, 6 affected, 5 carriers" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033402" "" "" "" "1" "" "00234" "" "4 generation family, 6 affected, 5 carriers" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033403" "" "" "" "1" "" "00234" "" "4 generation family, 6 affected, 5 carriers" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033404" "" "" "" "1" "" "00234" "" "4 generation family, 6 affected, 5 carriers" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033405" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "white" "" "00033406" "" "" "" "1" "" "00234" "" "" "" "no" "" "" "0" "" "" "Africa, north" "" "00033407" "" "" "" "1" "" "00234" "" "" "M" "?" "" "" "0" "" "" "Swedish" "" "00033408" "" "" "" "1" "" "00234" "" "" "" "no" "" "" "0" "" "" "Africa, north" "" "00033409" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033410" "" "" "" "1" "" "00234" "" "" "M" "?" "" "" "0" "" "" "Africa-N;Jewish" "" "00033411" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033412" "" "" "" "1" "" "00234" "" "" "?" "" "" "" "0" "" "" "" "" "00033413" "" "" "" "1" "" "00234" "" "" "" "?" "India" "" "0" "" "" "Indian" "" "00033414" "" "" "" "1" "" "00234" "" "3 generation family,3 affected" "M" "yes" "India" "" "0" "" "" "" "" "00033415" "" "" "" "1" "" "00234" "" "3 generation family,3 affected" "M" "yes" "India" "" "0" "" "" "" "" "00033416" "" "" "" "1" "" "00234" "" "3 generation family,3 affected" "F" "yes" "India" "" "0" "" "" "" "" "00033417" "" "" "" "1" "" "00234" "" "" "M" "no" "" "" "0" "" "" "" "" "00033418" "" "" "" "1" "" "00234" "" "" "F" "no" "" "" "0" "" "" "" "" "00033419" "" "" "" "1" "" "00234" "" "" "?" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033420" "" "" "" "1" "" "00234" "" "" "?" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00033421" "" "" "" "1" "" "00234" "" "2 generation family,1 affected" "F" "no" "Bangladesh" "" "0" "" "" "" "" "00033422" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033423" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033424" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033425" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033426" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033427" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033428" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "white" "" "00033429" "" "" "" "2" "" "00234" "" "3 generation family, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00033430" "" "" "" "1" "" "00234" "" "" "" "no" "" "" "0" "" "" "" "" "00033431" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033433" "" "" "" "1" "" "00234" "" "" "M" "no" "" "" "0" "" "" "" "" "00033434" "" "" "" "1" "" "00234" "" "" "F" "no" "" "" "0" "" "" "" "" "00033435" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "-" "" "00033436" "" "" "" "1" "" "00234" "" "" "" "?" "Belgium" "" "0" "" "" "" "" "00033437" "" "" "" "1" "" "00234" "" "2 generation family,1 affected" "F" "no" "Portugal" "" "0" "" "" "portugese" "" "00033438" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033439" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033440" "" "" "" "1" "" "00234" "" "" "?" "" "" "" "0" "" "" "" "" "00033441" "" "" "" "1" "" "00234" "" "" "?" "" "" "" "0" "" "" "" "" "00033442" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033443" "" "" "" "1" "" "00234" "" "" "?" "-" "" "" "0" "" "" "" "" "00033444" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033445" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033446" "" "" "" "1" "" "00234" "" "3 generation family,1 affected" "F" "?" "United States" "" "0" "" "" "African–American" "" "00033447" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033448" "" "" "" "1" "" "00234" "" "" "" "" "France" "" "0" "" "" "" "" "00033449" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033450" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033451" "" "" "" "1" "" "00234" "" "" "" "?" "France" "" "0" "" "" "French" "" "00033452" "" "" "" "1" "" "00234" "" "" "?" "?" "Spain" "" "0" "" "" "" "" "00033453" "" "" "" "1" "" "00234" "" "" "?" "?" "Spain" "" "0" "" "" "" "" "00033454" "" "" "" "1" "" "00234" "" "" "?" "?" "Spain" "" "0" "" "" "" "" "00033455" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033456" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033459" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033460" "" "" "" "1" "" "00234" "" "" "?" "yes" "" "" "0" "" "" "Arab" "" "00033461" "" "" "" "1" "" "00234" "" "" "" "?" "Palestine" "" "0" "" "" "Palestinian" "" "00033462" "" "" "" "1" "" "00234" "" "2 generation family 2 affectd, 2 carrier" "M" "no" "Palestine" "" "0" "" "" "" "" "00033463" "" "" "" "1" "" "00234" "" "2 generation family 2 affectd, 2 carrier" "M" "no" "Palestine" "" "0" "" "" "" "" "00033464" "" "" "" "1" "" "00234" "" "5 generation family,4 affected" "M" "no" "Palestine" "" "0" "" "" "" "" "00033465" "" "" "" "1" "" "00234" "" "5 generation family,4 affected" "M" "no" "Palestine" "" "0" "" "" "" "" "00033466" "" "" "" "1" "" "00234" "" "5 generation family,4 affected" "M" "yes" "Palestine" "" "0" "" "" "" "" "00033467" "" "" "" "1" "" "00234" "" "5 generation family,4 affected" "F" "yes" "Palestine" "" "0" "" "" "" "" "00033468" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033469" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033470" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033471" "" "" "" "1" "" "00234" "" "" "?" "?" "Morocco" "" "0" "" "" "" "" "00033472" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "Africa, north" "" "00033473" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "Africa, north" "" "00033474" "" "" "" "1" "" "00234" "" "4 generation family,4 affected" "F" "yes" "Morocco" "" "0" "" "" "" "" "00033475" "" "" "" "1" "" "00234" "" "4 generation family,4 affected" "F" "yes" "Morocco" "" "0" "" "" "" "" "00033476" "" "" "" "1" "" "00234" "" "4 generation family,4 affected" "M" "yes" "Morocco" "" "0" "" "" "" "" "00033477" "" "" "" "1" "" "00234" "" "4 generation family,4 affected" "F" "yes" "Morocco" "" "0" "" "" "" "" "00033478" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033479" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033480" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033481" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033482" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033483" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033484" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033485" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033486" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033487" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033488" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033489" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033490" "" "" "" "1" "" "00234" "" "" "" "" "" "" "0" "" "" "" "" "00033491" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033492" "" "" "" "1" "" "00234" "" "2 generation family, 1 affected" "F" "?" "" "" "0" "" "" "" "" "00033493" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033494" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033495" "" "" "" "1" "" "00234" "" "" "M" "?" "" "" "0" "" "" "Europe, north" "" "00033496" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033497" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033498" "" "" "" "1" "" "00234" "" "" "?" "" "" "" "0" "" "" "" "" "00033499" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033500" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033501" "" "" "" "1" "" "00234" "" "" "M" "?" "" "" "0" "" "" "Europe, north" "" "00033502" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033503" "" "" "" "1" "" "00234" "" "2 generation family, 5 people, 3 affected" "F" "no" "" "" "0" "" "" "" "" "00033504" "" "" "" "2" "" "00234" "" "2 generation family, 5 people, 3 affected" "M" "no" "" "" "0" "" "" "" "" "00033505" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "no" "Pakistan" "" "0" "" "" "" "" "00033506" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "no" "Pakistan" "" "0" "" "" "" "" "00033507" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "M" "no" "Pakistan" "" "0" "" "" "" "" "00033508" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "M" "no" "Pakistan" "" "0" "" "" "" "" "00033509" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00033510" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00033511" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00033512" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00033513" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "F" "yes" "Pakistan" "" "0" "" "" "" "" "00033514" "" "" "" "1" "" "00234" "" "25 generation family, 48 people, 10 affected" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00033515" "" "" "" "1" "" "00234" "" "2 generation family, 7 people, 2 affected" "F" "no" "" "" "0" "" "" "" "" "00033516" "" "" "" "1" "" "00234" "" "2 generation family, 7 people, 2 affected" "M" "no" "" "" "0" "" "" "" "" "00033517" "" "" "" "1" "" "00234" "" "3 families, 10 affected" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033518" "" "" "" "1" "" "00234" "" "3 families, 10 affected" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033519" "" "" "" "1" "" "00234" "" "3 families, 10 affected" "?" "?" "Pakistan" "" "0" "" "" "" "" "00033520" "" "" "" "1" "" "00234" "" "" "F" "no" "" "" "0" "" "" "Caucassian" "" "00033521" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "Africa" "" "00033522" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "white" "" "00033523" "" "" "" "1" "" "00234" "" "2 generation family, 1 affected" "F" "?" "" "" "0" "" "" "" "" "00033524" "" "" "" "1" "" "00234" "" "" "?" "no" "" "" "0" "" "" "-" "" "00033525" "" "" "" "1" "" "00234" "" "" "?" "" "" "" "0" "" "" "-" "" "00033526" "" "" "" "1" "" "00234" "" "" "?" "" "" "" "0" "" "" "-" "" "00033527" "" "" "" "1" "" "00234" "" "2 generation family, 1 affected" "M" "?" "Spain" "" "0" "" "" "" "" "00033528" "" "" "" "1" "" "00234" "" "3 generation family, 1 affected" "F" "?" "France" "" "0" "" "" "" "" "00033529" "" "" "" "1" "" "00234" "" "3 generation family, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00033530" "" "" "" "1" "" "00234" "" "3 generation family, 2 affected" "M" "?" "France" "" "0" "" "" "" "" "00033531" "" "" "" "1" "" "00234" "" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00033532" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033533" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033534" "" "" "" "1" "" "00234" "" "" "" "" "Pakistan" "" "0" "" "" "" "" "00033535" "" "" "" "1" "" "00234" "" "" "" "" "Pakistan" "" "0" "" "" "" "" "00033536" "" "" "" "1" "" "00234" "" "" "" "" "United States" "" "0" "" "" "" "" "00033537" "" "" "" "1" "" "00234" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00033538" "" "" "" "1" "" "00234" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00033539" "" "" "" "1" "" "00234" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00033542" "" "" "" "1" "" "00234" "" "" "" "" "Ireland" "" "0" "" "" "" "" "00033543" "" "" "" "1" "" "00234" "" "" "" "" "France" "" "0" "" "" "" "" "00033544" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033545" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033546" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033547" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033548" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033549" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033550" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033551" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033552" "" "" "" "1" "" "00234" "" "" "F" "?" "" "" "0" "" "" "Europe, north" "" "00033553" "" "" "" "1" "" "00234" "" "" "?" "?" "Canada" "" "0" "" "" "" "" "00033554" "" "" "" "1" "" "00234" "" "" "?" "?" "United States" "" "0" "" "" "Baltimore" "" "00033555" "" "" "" "1" "" "00234" "" "" "?" "?" "United States" "" "0" "" "" "Baltimore" "" "00033556" "" "" "" "1" "" "00234" "" "" "" "no" "Spain" "" "0" "" "" "" "" "00033557" "" "" "" "1" "" "00234" "" "" "" "no" "" "" "0" "" "" "" "" "00033558" "" "" "" "1" "" "00234" "" "" "" "no" "" "" "0" "" "" "" "" "00033559" "" "" "" "1" "" "00234" "" "" "" "no" "France" "" "0" "" "" "" "" "00033560" "" "" "" "1" "" "00234" "" "" "" "no" "France" "" "0" "" "" "" "" "00033561" "" "" "" "1" "" "00234" "" "" "" "no" "France" "" "0" "" "" "" "" "00033562" "" "" "" "1" "" "00234" "" "" "" "no" "France" "" "0" "" "" "" "" "00033563" "" "" "" "1" "" "00234" "" "" "" "" "France" "" "0" "" "" "" "" "00033564" "" "" "" "1" "" "00234" "" "" "" "?" "Bangladesh" "" "0" "" "" "Bangladeshi" "" "00033565" "" "" "" "1" "" "00234" "" "" "?" "?" "Italy" "" "0" "" "" "" "" "00033566" "" "" "" "1" "" "00234" "" "" "?" "?" "Italy" "" "0" "" "" "" "" "00033567" "" "" "" "1" "" "00234" "" "" "" "no" "Italy" "" "0" "" "" "Italian" "" "00033568" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033569" "" "" "" "1" "" "00234" "" "4 generation family 3 affected,8 carrier" "F" "yes" "India" "" "0" "" "" "" "" "00033570" "" "" "" "1" "" "00234" "" "4 generation family 3 affected,8 carrier" "F" "yes" "India" "" "0" "" "" "" "" "00033571" "" "" "" "1" "" "00234" "" "4 generation family 3 affected,8 carrier" "F" "yes" "India" "" "0" "" "" "" "" "00033572" "" "" "" "1" "" "00234" "" "" "" "" "India" "" "0" "" "" "" "" "00033573" "" "" "" "1" "" "00234" "" "4 generation family, 3 affected" "F" "yes" "India" "" "0" "" "" "" "" "00033574" "" "" "" "1" "" "00234" "" "4 generation family, 3 affected" "F" "yes" "India" "" "0" "" "" "" "" "00033575" "" "" "" "1" "" "00234" "" "4 generation family, 3 affected" "F" "yes" "India" "" "0" "" "" "" "" "00033576" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033577" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033578" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033579" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033580" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033581" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033582" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033583" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033584" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033585" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "Africa, west" "" "00033586" "" "" "" "1" "" "00234" "" "3 generation family,1 affected" "F" "?" "United States" "" "0" "" "" "African–American" "" "00033587" "" "" "" "1" "" "00234" "" "" "?" "?" "" "" "0" "" "" "" "" "00033589" "" "" "" "1" "" "00242" "{PMID:Yücelyilmaz 2014:25148430}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Turkey" "" "0" "" "" "Turkish" "FamB" "00033614" "" "" "" "1" "" "00243" "" "" "F" "yes" "India" "" "0" "" "" "India, south" "" "00033615" "" "" "" "3" "" "00243" "" "" "F" "yes" "India" "" "0" "" "" "India, south" "" "00033689" "" "" "" "1" "" "00243" "" "2-generation family, patient and unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "India, south" "" "00033690" "" "" "" "1" "" "00243" "" "2-generation family, patient and unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "India, south" "" "00033691" "" "" "" "1" "" "00243" "" "2-generation family, patient and unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "India, south" "" "00033692" "" "" "" "1" "" "00243" "" "2-generation family, patient and unaffected heterozygous carrier parents" "M" "yes" "India" "" "0" "" "" "India, south" "" "00038330" "" "" "" "1" "" "01251" "{PMID:Zernant 2005:16123401}" "" "F" "yes" "India" "" "0" "" "" "Indian" "" "00059204" "" "" "" "2" "" "01552" "" "homozygous in two affected siblings, heterozygous in their unaffected mother" "F" "?" "Sudan" "" "0" "" "" "" "" "00081025" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00095930" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61032" "00100109" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "no" "Pakistan" "" "0" "" "" "Pakistani" "61227" "00151424" "" "" "" "1" "" "00006" "{PMID:Weisz Hubshman 2018:29272404}, Vulto-van Silfhout 2024, submitted" "2-generation family, 1 affected, unaffected heterozygous carrier parents/brother" "F" "" "Morocco" "" "0" "" "" "Yemenite;Jew" "FamPatII1;Fam1" "00155378" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155379" "" "" "" "2" "" "01243" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "F" "no" "Israel" "" "0" "" "" "Africa-N;Jewish" "MOL0113" "00207677" "" "" "" "1" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00291821" "" "" "" "48" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304596" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308400" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC00190" "00308471" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308472" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00308598" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 homozygous patient" "" "" "Norway" "" "0" "" "" "" "" "00308940" "" "" "" "4" "" "00004" "{PMID:Sharon 2019:31456290}" "4 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00308941" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308942" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00308943" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00320013" "" "" "" "6" "" "00008" "{PMID:Khaliq 2003:12573663}" "" "" "yes" "" "" "0" "" "" "Pakistani" "" "00325416" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "438" "00326791" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326792" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326793" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326794" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00326795" "" "" "" "1" "" "00008" "{PMID:Sohocki 2001:11139241}" "" "" "" "" "" "0" "" "" "" "" "00328271" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G009874" "00332186" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB249" "00332371" "" "" "" "2" "" "00000" "{PMID:Thompson 2017:29178642}" "family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam2030" "00332372" "" "" "" "2" "" "00000" "{PMID:Thompson 2017:29178642}" "family, 2 affected" "" "" "Australia" "" "0" "" "" "" "Fam2272" "00332459" "" "" "" "1" "" "00000" "{PMID:Di Iorio 2017:29053603}" "" "" "" "Italy" "" "0" "" "" "" "Pat22" "00333931" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "389" "00335405" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP070" "00335605" "" "" "" "1" "" "00008" "{PMID:Booij 2005:16272259}" "" "" "" "" "" "0" "" "" "" "" "00335629" "" "" "" "1" "" "00008" "{PMID:Yzer 2006:16505055}" "" "" "" "" "" "0" "" "" "white (dutch, belgian or german)" "" "00335630" "" "" "" "1" "" "00008" "{PMID:Yzer 2006:16505055}" "" "" "yes" "" "" "0" "" "" "white (dutch, belgian or german)" "" "00335631" "" "" "" "1" "" "00008" "{PMID:Yzer 2006:16505055}" "" "" "" "" "" "0" "" "" "white (dutch, belgian or german)" "" "00358889" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents/relatives" "" "" "China" "" "0" "" "" "Han" "Fam1" "00358890" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam2" "00358891" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam3" "00358892" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam4" "00358956" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71703" "00359069" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12012994" "00359093" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13015422" "00359222" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13012938" "00363593" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG00942" "00363609" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "09DG01667" "00363619" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0691" "00363677" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG2537" "00363849" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363850" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363851" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363852" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363853" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00363854" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "" "" "Israel" "" "0" "" "" "" "" "00372057" "" "" "" "1" "" "00000" "{PMID:Vamos 2016:26165328}" "" "" "" "Hungary" "" "0" "" "" "" "AIPL-Pat1" "00372058" "" "" "" "1" "" "00000" "{PMID:Vamos 2016:26165328}" "" "" "" "Hungary" "" "0" "" "" "" "AIPL-Pat2" "00372071" "" "" "" "1" "" "00000" "{PMID:Srilekha 2015:26147992}" "family" "" "yes" "India" "" "0" "" "" "India-S" "FamLCA-5" "00372072" "" "" "" "1" "" "00000" "{PMID:Srilekha 2015:26147992}" "family" "" "yes" "India" "" "0" "" "" "India-S" "FamLCA-8" "00372074" "" "" "" "1" "" "00000" "{PMID:Srilekha 2015:26147992}" "family" "" "yes" "India" "" "0" "" "" "India-S" "FamLCA-10" "00372417" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "389" "00372418" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "394" "00372419" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "3267585" "00372494" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "1621712" "00372495" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "1663520" "00372500" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "688" "00373405" "" "" "" "1" "" "00000" "{PMID:Maria 2015:25775262}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "Fam01" "00373406" "" "" "" "2" "" "00000" "{PMID:Maria 2015:25775262}" "family" "" "yes" "Pakistan" "" "0" "" "" "" "Fam02" "00374957" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W105-1" "00376749" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "7" "00376755" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "15" "00376779" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "45" "00376782" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "48" "00377194" "" "" "" "3" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "270" "00377195" "" "" "00377194" "1" "" "00000" "Tracewska 2021, MolVis in press" "father" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "273" "00377196" "" "" "00377194" "1" "" "00000" "Tracewska 2021, MolVis in press" "sister" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "271" "00377265" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "399" "00377519" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE47" "F" "no" "Japan" "" "0" "" "" "Asian" "EYE47" "00377887" "" "" "" "1" "" "00000" "{PMID:li 2011:21602930}" "novel" "M" "no" "China" "" "0" "" "" "Chinese" "" "00379809" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016102425" "00380282" "" "" "" "1" "" "00000" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00380367" "" "" "" "1" "" "00000" "{PMID:Khan-2013:23134348}" "" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00381027" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00381084" "" "" "" "1" "" "00000" "{PMID:Jonsson-2013:23443024}" "" "F" "" "Sweden" "" "0" "" "" "Swedish" "" "00381148" "" "" "" "1" "" "00008" "{PMID:Verma-2013:24066033}" "" "M" "yes" "India" "" "0" "" "" "South Indian" "" "00381178" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "" "" "no" "" "" "0" "" "" "" "" "00381179" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "" "" "no" "" "" "0" "" "" "" "" "00381180" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "" "" "no" "" "" "0" "" "" "" "" "00381181" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "" "" "no" "" "" "0" "" "" "" "" "00381182" "" "" "" "1" "" "00008" "{PMID:Wang-2013:23847139}" "" "" "no" "" "" "0" "" "" "" "" "00381594" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "?" "Germany" "" "0" "" "" "" "" "00381602" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" "" "00381642" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "?" "Turkey" "" "0" "" "" "" "" "00381692" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381932" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "1" "00381933" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "2" "00382210" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "39" "00382211" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "40" "00382479" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "341" "00383766" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18070033_A" "00383958" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0995" "00384207" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066877" "00384992" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "10161" "00384995" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "10283" "00384996" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "10320" "00385012" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19263" "00385015" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19277" "00385022" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19366" "00385047" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19793" "00385070" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "67160" "00385086" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "191017" "00385093" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "191096" "00386174" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-287" "00386262" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-38, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-104" "00386263" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-38, family member" "M" "" "Spain" "" "0" "" "" "" "RPN-532" "00386757" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" 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"04210" "00033487" "00198" "00033488" "00000" "00033489" "00000" "00033490" "00198" "00033491" "00000" "00033492" "04210" "00033493" "04210" "00033494" "04210" "00033495" "04210" "00033496" "04210" "00033497" "02508" "00033498" "04210" "00033499" "04210" "00033500" "04210" "00033501" "04210" "00033502" "04210" "00033503" "00198" "00033504" "00198" "00033505" "00198" "00033506" "00198" "00033507" "00198" "00033508" "00198" "00033509" "00198" "00033510" "00198" "00033511" "00198" "00033512" "00198" "00033513" "00198" "00033514" "00198" "00033515" "00198" "00033516" "00198" "00033517" "04210" "00033518" "04210" "00033519" "04210" "00033520" "04210" "00033521" "04210" "00033522" "04210" "00033523" "04210" "00033524" "04210" "00033525" "04210" "00033526" "04210" "00033527" "04210" "00033528" "04210" "00033529" "04210" "00033530" "04210" "00033531" "04210" "00033532" "04210" "00033533" "04210" "00033534" "04210" "00033535" "04210" "00033536" "04210" "00033537" "04210" "00033538" "04210" "00033539" "04210" "00033542" "04210" "00033543" "04210" "00033544" "02508" "00033545" "02508" "00033546" "02508" "00033547" "02508" "00033548" "02508" "00033549" "04210" "00033550" "04210" "00033551" "04210" "00033552" "04210" "00033553" "00000" "00033554" "00000" "00033555" "00000" "00033556" "04210" "00033557" "04210" "00033558" "04210" "00033559" "04210" "00033560" "04210" "00033561" "04210" "00033562" "04210" "00033563" "04210" "00033564" "04210" "00033565" "04210" "00033566" "04210" "00033567" "02508" "00033568" "00000" "00033569" "04210" "00033570" "04210" "00033571" "04210" "00033572" "04210" "00033573" "04210" "00033574" "04210" "00033575" "04210" "00033576" "00198" "00033577" "00000" "00033578" "00000" "00033579" "00000" "00033580" "00000" "00033581" "00000" "00033582" "00000" "00033583" "00000" "00033584" "00000" "00033585" "00000" "00033586" "04210" "00033587" "00000" "00033589" "04210" "00033614" "04210" "00033615" "04210" "00033689" "04210" "00033690" "04210" "00033691" "04210" "00033692" "04210" "00038330" "04210" "00059204" "04210" "00081025" "02508" "00095930" "00381" "00100109" "00381" "00151424" "04211" "00155378" "04210" "00155379" "04210" "00207677" "04210" "00291821" "00198" "00304596" "00198" "00308400" "04214" "00308471" "04214" "00308472" "04214" "00308598" "04214" "00308940" "04214" "00308941" "04214" "00308942" "04214" "00308943" "04214" "00320013" "04214" "00325416" "04214" "00326791" "04214" "00326792" "04214" "00326793" "04214" "00326794" "04214" "00326795" "04214" "00328271" "04214" "00332186" "04214" "00332371" "04214" "00332372" "04214" "00332459" "04214" "00333931" "04214" "00335405" "04214" "00335605" "04214" "00335629" "04214" "00335630" "04214" "00335631" "04214" "00358889" "04214" "00358890" "04214" "00358891" "04214" "00358892" "04214" "00358956" "04214" "00359069" "04214" "00359093" "04214" "00359222" "04214" "00363593" "04214" "00363609" "04214" "00363619" "04214" "00363677" "04214" "00363849" "04214" "00363850" "04214" "00363851" "04214" "00363852" "04214" "00363853" "04214" "00363854" "04214" "00372057" "04214" "00372058" "04214" "00372071" "04214" "00372072" "04214" "00372074" "04214" "00372417" "04214" "00372418" "04214" "00372419" "04214" "00372494" "04214" "00372495" "04214" "00372500" "04214" "00373405" "04214" "00373406" "04214" "00374957" "04214" "00376749" "04214" "00376755" "04214" "00376779" "04214" "00376782" "04214" "00377194" "04214" "00377195" "04214" "00377196" "04214" "00377265" "04214" "00377519" "04214" "00377887" "04214" "00379809" "04214" "00380282" "04214" "00380367" "04214" "00381027" "04214" "00381084" "04214" "00381148" "04214" "00381178" "04214" "00381179" "04214" "00381180" "04214" "00381181" "04214" "00381182" "04214" "00381594" "04214" "00381602" "04214" "00381642" "04214" "00381692" "04214" "00381932" "04214" "00381933" "04214" "00382210" "04214" "00382211" "04214" "00382479" "04214" "00383766" "04214" "00383958" "04214" "00384207" "04214" "00384992" "04214" "00384995" "04214" "00384996" "04214" "00385012" "04214" "00385015" "04214" "00385022" "04214" "00385047" "04214" "00385070" "04214" "00385086" "04214" "00385093" "04214" "00386174" "04214" "00386262" "04214" "00386263" "04214" "00386757" "04214" "00388738" "04214" "00388972" "04214" "00389009" "04214" "00389095" "04214" "00389508" "04214" "00389568" "04214" "00389569" "04214" "00390162" "04214" "00391347" "04214" "00391601" "04214" "00393563" "04214" "00393721" "04214" "00393790" "04214" "00405817" "04214" "00405818" "04214" "00405819" "04214" "00405820" "04214" "00405821" "04214" "00405822" "04214" "00405823" "04214" "00405824" "04214" "00405825" "04214" "00405826" "04214" "00405827" "04214" "00405828" "04214" "00405829" "04214" "00405830" "04214" "00405831" "04214" "00405832" "04214" "00405833" "04214" "00405834" "04214" "00405835" "04214" "00405836" "04214" "00405837" "04214" "00405838" "04214" "00405839" "04214" "00405840" "04214" "00405841" "04214" "00405842" "04214" "00405843" "04214" "00405844" "04214" "00405845" "04214" "00405846" "04214" "00405847" "04214" "00405848" "04214" "00405849" "04214" "00405850" "04214" "00405851" "04214" "00405852" "04214" "00405853" "04214" "00405854" "04214" "00405855" "04214" "00405856" "04214" "00405857" "04214" "00405858" "04214" "00405859" "04214" "00405860" "04214" "00405861" "04214" "00405862" "04214" "00405863" "04214" "00405864" "04214" "00405865" "04214" "00405866" "04214" "00405867" "04214" "00405868" "04214" "00405869" "04214" "00405870" "04214" "00405871" "04214" "00405872" "04214" "00405873" "04214" "00405874" "04214" "00405875" "04214" "00405876" "04214" "00405877" "04214" "00405878" "04214" "00405879" "04214" "00405880" "04214" "00405881" "04214" "00405882" "04214" "00405883" "04214" "00405884" "04214" "00405885" "04214" "00405886" "04214" "00405887" "04214" "00405888" "04214" "00405889" "04214" "00405890" "04214" "00405891" "04214" "00405892" "04214" "00405893" "04214" "00405894" "04214" "00405895" "04214" "00405896" "04214" "00405897" "04214" "00405898" "04214" "00405899" "04214" "00405900" "04214" "00405901" "04214" "00405902" "04214" "00405982" "04214" "00405983" "04214" "00405984" "04214" "00406388" "04214" "00406395" "04214" "00406396" "04214" "00406397" "04214" "00406398" "04214" "00406399" "04214" "00406400" "04214" "00406401" "04214" "00406451" "04214" "00407224" "04214" "00407225" "04214" "00407226" "04214" "00407227" "04214" "00407228" "04214" "00407229" "04214" "00407230" "04214" "00407231" "04214" "00407232" "04214" "00407233" "04214" "00407234" "04214" "00407235" "04214" "00407236" "04214" "00407237" "04214" "00407238" "04214" "00407239" "04214" "00407240" "04214" "00426922" "04214" "00426926" "04214" "00429693" "04210" "00429706" "00112" "00429748" "00112" "00429901" "00112" "00430092" "04210" "00447075" "00198" "00451147" "04249" "00461100" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 00381, 02508, 04209, 04210, 04211, 04214, 04249 ## Count = 464 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000026569" "04214" "00033140" "00229" "Unknown" "10y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026581" "04214" "00033152" "00229" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026588" "04214" "00033159" "00229" "Unknown" "40y" "secundary diabetes mellitus type 1 (due to pancreatitis)" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026590" "04214" "00033161" "00229" "Unknown" "1y" "lumped pigmentary retinal degeneration, early onset; ferriprive anemia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026809" "00000" "00033380" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026810" "04210" "00033381" "00234" "Familial, autosomal recessive" "" "Bilateral contaract; keratoconus;  Oculodigital Phenomena; Onset Visual loss, Nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000026811" "04210" "00033382" "00234" "Familial, autosomal recessive" "" "Bilateral plasties; Oculodigital Phenomena; Onset Visual loss" "" "" "" "" "" "" "" "" "" "" "" "0000026812" "04210" "00033383" "00234" "Familial, autosomal recessive" "1y" "foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026813" "04210" "00033384" "00234" "Familial, autosomal recessive" "5y" "foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026814" "00198" "00033385" "00234" "Unknown" "" "-" "" "" "" "" "" "" "" "" "" "" "" "0000026815" "04210" "00033386" "00234" "Familial, autosomal recessive" "" "Pseudophakic; keratoconus; patches of periphral chorio retinal atrophy; Oculodigital Phenomena; Onset Visual loss, Nyctalopia;Photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000026816" "00198" "00033387" "00234" "Unknown" "" "-" "" "" "" "" "" "" "" "" "" "" "" "0000026817" "04210" "00033388" "00234" "Familial, autosomal recessive" "2y" "Bilateral pigmentary degeneration; significant hyperopia with astigmatism.; Onset Roving nystagmus;sluggish pupils, andphotophobi" "" "" "" "" "" "" "" "" "" "" "" "0000026818" "04210" "00033389" "00234" "Familial, autosomal recessive" "8m" "Bluntedfoveal reflex; minimally attenuatedretinal vessels; andmildpigment dispersion with traces of finemottling; Onset Nystagmus, sluggish pupillary responses andmildhyperopiawith astigmatism" "" "" "" "" "" "" "" "" "" "" "" "0000026819" "00000" "00033390" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026820" "02508" "00033391" "00234" "Familial, autosomal recessive" "9y" "Rdwith Md; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026821" "02508" "00033392" "00234" "Familial, autosomal recessive" "13y" "Rdwith Md; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026822" "00198" "00033393" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026823" "00000" "00033394" "00234" "Isolated (sporadic)" "" "-" "" "" "" "" "" "" "" "" "" "" "" "0000026824" "00198" "00033395" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026825" "04210" "00033396" "00234" "Familial, autosomal recessive" "" "Nystagmus; Onset Severe visual loss" "" "" "" "" "" "" "" "" "" "" "" "0000026826" "04210" "00033397" "00234" "Familial, autosomal recessive" "" "Nystagmus; Onset Severe visual loss" "" "" "" "" "" "" "" "" "" "" "" "0000026827" "00000" "00033398" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026828" "04214" "00033399" "00234" "Familial, autosomal recessive" "" "Macular degeneration; Gradual deterioration in visual acuity; Macular degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026829" "04214" "00033400" "00234" "Familial, autosomal recessive" "" "Macular degeneration; Gradual deterioration in visual acuity; Macular degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026830" "04214" "00033401" "00234" "Familial, autosomal recessive" "" "Macular degeneration; Gradual deterioration in visual acuity; Macular degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026831" "04214" "00033402" "00234" "Familial, autosomal recessive" "" "Macular degeneration; Gradual deterioration in visual acuity; Macular degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026832" "04214" "00033403" "00234" "Familial, autosomal recessive" "" "Macular degeneration; Gradual deterioration in visual acuity; Macular degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026833" "04214" "00033404" "00234" "Familial, autosomal recessive" "" "Macular degeneration; Gradual deterioration in visual acuity; Macular degeneration" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026834" "04210" "00033405" "00234" "Familial, autosomal recessive" "2y" "Nystagmus; mildmottling of maculopathy; high myopia ; Onset Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026835" "04210" "00033406" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026836" "04210" "00033407" "00234" "Familial, autosomal recessive" "3y" "foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026837" "04210" "00033408" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026838" "04210" "00033409" "00234" "Familial, autosomal recessive" "23y" "Keratoconus; cataract; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026839" "04210" "00033410" "00234" "Familial, autosomal recessive" "27y" "foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026840" "00198" "00033411" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026841" "04210" "00033412" "00234" "Familial, autosomal recessive" "" "Retinal drunes like depositions;  Oculodigital Phenomena; Onset Visual loss, Nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000026842" "04210" "00033413" "00234" "Familial, autosomal recessive" "24y" "MildMaculopathy ; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026843" "04210" "00033414" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026844" "04210" "00033415" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026845" "04210" "00033416" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026846" "04210" "00033417" "00234" "Familial, autosomal recessive" "22y" "dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole;photoreceptors are absent; retinal gliosis was present; Headache andpain in eyes; Bilateral Nysgtagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026847" "04210" "00033418" "00234" "Familial, autosomal recessive" "4y" "dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole;photoreceptors are absent; retinal gliosis was present; Headache andpain in eyes; Bilateral Nysgtagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026848" "04210" "00033419" "00234" "Familial, autosomal recessive" "30y" "Nystagmus; moderate pigmentry retionopathy;maculopathy atrophy;disc pallor drusen; posterior subcapsular cataract; keratoconus; Onset Poor vision;nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026849" "04210" "00033420" "00234" "Familial, autosomal recessive" "36y" "Nystagmus; moderate pigmentry retionopathy;maculopathy atrophy;disc pallor drusen; posterior subcapsular cataract; keratoconus; Onset Poor vision;nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026850" "04210" "00033421" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026851" "00000" "00033422" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026852" "00198" "00033423" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026853" "00000" "00033424" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026854" "00000" "00033425" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026855" "00198" "00033426" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026856" "00198" "00033427" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026857" "04210" "00033428" "00234" "Familial, autosomal recessive" "17y" "Nystagmus;moderate pigmentry retionpathy;maculopathy atrophy; drusen; presence of white retinal dots; posterior subcapsular cataract; moderate myopia; Onset Poor vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026858" "04210" "00033429" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026859" "04210" "00033430" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026860" "00000" "00033431" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026862" "04210" "00033433" "00234" "Familial, autosomal recessive" "22y" "dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole; Headache andpain in eyes; Bilateral Nysgtagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026863" "04210" "00033434" "00234" "Familial, autosomal recessive" "4y" "dilatedretinal vessels; mainly venules; primarily localisedin the posterior pole; Headache andpain in eyes; Bilateral Nysgtagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026864" "04210" "00033435" "00234" "Familial, autosomal recessive" "" "Visual fieldchanges; ERG reduction; Onset Nystagmus," "" "" "" "" "" "" "" "" "" "" "" "0000026865" "04210" "00033436" "00234" "Familial, autosomal recessive" "4m" "mild maculopathy; absence of pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026866" "04210" "00033437" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026867" "00000" "00033438" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026868" "00198" "00033439" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026869" "04210" "00033440" "00234" "Familial, autosomal recessive" "" "Pseudophakic; keratoconus; patches of periphral chorio retinal atrophy;  Oculodigital Phenomena; Onset Visual loss, Nyctalopia, Photosensitivity, Atrophy of retinal pigment andchoroid, pigmentary clumping" "" "" "" "" "" "" "" "" "" "" "" "0000026870" "04210" "00033441" "00234" "Familial, autosomal recessive" "" "Keratoconus; Bilateral Contaracts; Oculodigital Phenomena; Onset Visual loss, Nyctalopia;Photosensitivity" "" "" "" "" "" "" "" "" "" "" "" "0000026871" "00198" "00033442" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026872" "00198" "00033443" "00234" "Unknown" "" "-" "" "" "" "" "" "" "" "" "" "" "" "0000026873" "00000" "00033444" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026874" "00000" "00033445" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026875" "04210" "00033446" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026876" "04210" "00033447" "00234" "Familial, autosomal recessive" "8y" "Severe Maculopathy; Moderate pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026877" "04210" "00033448" "00234" "Familial, autosomal recessive" "" "Onset Severe pigmentary Retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026878" "02508" "00033449" "00234" "Familial, autosomal recessive" "79y" "Rdwith Md; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026879" "00000" "00033450" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026880" "04210" "00033451" "00234" "Familial, autosomal recessive" "" "Onset Severe pigmentary Retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026881" "04209" "00033452" "00234" "Isolated (sporadic)" "" "Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026882" "04209" "00033453" "00234" "Isolated (sporadic)" "" "Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026883" "04209" "00033454" "00234" "Isolated (sporadic)" "" "Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026884" "00000" "00033455" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026885" "00000" "00033456" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026888" "00000" "00033459" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026889" "04210" "00033460" "00234" "Familial, autosomal recessive" "2y" "Nystagmus; moderate hyperopia; Onset Poor vision;nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026890" "04210" "00033461" "00234" "Familial, autosomal recessive" "10y" "MildMaculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026891" "04210" "00033462" "00234" "Familial, autosomal recessive" "" "keratoconu; cataracts; pale optic discs;arteriolar attenuation andintraretinal pigment migration; Onset Night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000026892" "04210" "00033463" "00234" "Familial, autosomal recessive" "" "keratoconu; cataracts; pale optic discs;arteriolar attenuation andintraretinal pigment migration; Onset Night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000026893" "04210" "00033464" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026894" "04210" "00033465" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026895" "04210" "00033466" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026896" "04210" "00033467" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026897" "00000" "00033468" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026898" "00198" "00033469" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026899" "00000" "00033470" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026900" "04210" "00033471" "00234" "Familial, autosomal recessive" "" "Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026901" "04210" "00033472" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026902" "04210" "00033473" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026903" "04210" "00033474" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026904" "04210" "00033475" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026905" "04210" "00033476" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026906" "04210" "00033477" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026907" "00000" "00033478" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026908" "00000" "00033479" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026909" "00000" "00033480" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026910" "00000" "00033481" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026911" "00000" "00033482" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026912" "00198" "00033483" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026913" "00000" "00033484" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026914" "00000" "00033485" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026915" "04210" "00033486" "00234" "Familial, autosomal recessive" "16y" "MildMaculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026916" "00198" "00033487" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026917" "00000" "00033488" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026918" "00000" "00033489" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026919" "00198" "00033490" "00234" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026920" "00000" "00033491" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026921" "04210" "00033492" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026922" "04210" "00033493" "00234" "Familial, autosomal recessive" "17y" "MildMaculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026923" "04210" "00033494" "00234" "Familial, autosomal recessive" "19y" "MildMaculopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026924" "04210" "00033495" "00234" "Familial, autosomal recessive" "33y" "Cataract; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026925" "04210" "00033496" "00234" "Familial, autosomal recessive" "40y" "Foveal depression; RPE pigmentation abnormalities; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026926" "02508" "00033497" "00234" "Familial, autosomal recessive" "5y" "salt andpepper fundus; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026927" "04210" "00033498" "00234" "Familial, autosomal recessive" "" "Bone specule like changes; Bull\'s eye appearence; Atrophic macular lesions; drusion like deposits;  Oculodigital Phenomena; Onset Visual Loss, Severe pigmentary retinopathy, Atrophy of retinal pigment, mottling of hypopigmentation." "" "" "" "" "" "" "" "" "" "" "" "0000026928" "04210" "00033499" "00234" "Familial, autosomal recessive" "40y" "Cataract; Melanin abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026929" "04210" "00033500" "00234" "Familial, autosomal recessive" "7y" "RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026930" "04210" "00033501" "00234" "Familial, autosomal recessive" "39y" "Melanin abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026931" "04210" "00033502" "00234" "Familial, autosomal recessive" "45y" "Cataract; retinal degeneration; foveal depression; Onset Visual disturbance, nystagmus, visual acuity, nyctalopia" "" "" "" "" "" "" "" "" "" "" "" "0000026932" "00198" "00033503" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026933" "00198" "00033504" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026934" "00198" "00033505" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026935" "00198" "00033506" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026936" "00198" "00033507" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026937" "00198" "00033508" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026938" "00198" "00033509" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026939" "00198" "00033510" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026940" "00198" "00033511" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026941" "00198" "00033512" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026942" "00198" "00033513" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026943" "00198" "00033514" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026944" "00198" "00033515" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026945" "00198" "00033516" "00234" "Unknown" "" "Severely attenuatedretinal vessels; PronouncedAtrophy within the macula anda Pale optic disk.; Onset Poor central vision, severe Night blindness, pendular Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026946" "04210" "00033517" "00234" "Familial, autosomal recessive" "" "Severe keratoconus; poor acuity; macular atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000026947" "04210" "00033518" "00234" "Familial, autosomal recessive" "" "Severe keratoconus; poor acuity; macular atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000026948" "04210" "00033519" "00234" "Familial, autosomal recessive" "" "Severe keratoconus; poor acuity; macular atrophy" "" "" "" "" "" "" "" "" "" "" "" "0000026949" "04210" "00033520" "00234" "Familial, autosomal recessive" "4m" "Grossly intact extraocular movement; sluggishpupillary responses; normal intraocular pressure to palpation;andsevere hyperopia with astigmatism.; Onset Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026950" "04210" "00033521" "00234" "Familial, autosomal recessive" "19y" "Nystagmus; Moderate pigmentry retinopathy;bone spicules; mildmolting maculopathy; presence of white retinal dots;myopia; Onset Poor vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026951" "04210" "00033522" "00234" "Familial, autosomal recessive" "24y" "Nystagmus; Moderate pigmentry retinopathy;bone spicules; maculopathy atrophy; Onset Poor vision, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026952" "04210" "00033523" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026953" "04210" "00033524" "00234" "Familial, autosomal recessive" "15y" "Increasedpigment spicules in the periphery; Bull’s eye maculopathy; Onset Nystagmus, No Keratoconus, Photophobia" "" "" "" "" "" "" "" "" "" "" "" "0000026954" "04210" "00033525" "00234" "Familial, autosomal recessive" "6y" "Pale optic disc; narrowing of the arterioles; absent foveal reflex but no clear macular abnormalities; no intraretinal pigment Migration; Onset Night Blindness, Keratoconus, Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026955" "04210" "00033526" "00234" "Familial, autosomal recessive" "9y" "Macular RPE alterations in a bull’s eyepattern; diffuse RPE alterations with scarce intraretinal pigment migration with spicular aspect; sub- or deep intraretinal fine white deposits predominantly along vascular arcades.; Onset Night Blindness, Photophobia, Nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026956" "04210" "00033527" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000026957" "04210" "00033528" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026958" "04210" "00033529" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026959" "04210" "00033530" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026960" "04210" "00033531" "00234" "Familial, autosomal recessive" "8y" "Moderate Maculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026961" "04210" "00033532" "00234" "Familial, autosomal recessive" "57y" "Moderate Maculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026962" "04210" "00033533" "00234" "Familial, autosomal recessive" "" "Severe Maculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026963" "04210" "00033534" "00234" "Familial, autosomal recessive" "16y" "Severe Maculopathy; Moderate pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026964" "04210" "00033535" "00234" "Familial, autosomal recessive" "25y" "IFR (indistinct foveal reflex) Maculopahty" "" "" "" "" "" "" "" "" "" "" "" "0000026965" "04210" "00033536" "00234" "Familial, autosomal recessive" "3y" "Onset Severe pigmentary Retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026966" "04210" "00033537" "00234" "Familial, autosomal recessive" "" "Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026967" "04210" "00033538" "00234" "Familial, autosomal recessive" "" "MildMaculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026968" "04210" "00033539" "00234" "Familial, autosomal recessive" "" "Moderate Maculopathy; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026971" "04210" "00033542" "00234" "Familial, autosomal recessive" "3y" "IFR Maculopathy; Mild pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026972" "04210" "00033543" "00234" "Familial, autosomal recessive" "" "Onset Severe pigmentary Retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026973" "02508" "00033544" "00234" "Familial, autosomal recessive" "10y" "Rdwith Md; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026974" "02508" "00033545" "00234" "Familial, autosomal recessive" "19y" "Rdwith Md; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026975" "02508" "00033546" "00234" "Familial, autosomal recessive" "3y" "Rdwith Md; Onset Right Eye Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026976" "02508" "00033547" "00234" "Familial, autosomal recessive" "37y" "Rdwith Md; Onset Right Eye Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026977" "02508" "00033548" "00234" "Familial, autosomal recessive" "44y" "Rdwith Md; Onset Nystagmus, No Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026978" "04210" "00033549" "00234" "Familial, autosomal recessive" "7y" "RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026979" "04210" "00033550" "00234" "Familial, autosomal recessive" "7y" "RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026980" "04210" "00033551" "00234" "Familial, autosomal recessive" "7y" "RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026981" "04210" "00033552" "00234" "Familial, autosomal recessive" "7y" "RPE pigmentation abnormalities; foveal depression; Onset Visual disturbance, nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000026982" "00000" "00033553" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026983" "00000" "00033554" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026984" "00000" "00033555" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026985" "04210" "00033556" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026986" "04210" "00033557" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026987" "04210" "00033558" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026988" "04210" "00033559" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026989" "04210" "00033560" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026990" "04210" "00033561" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026991" "04210" "00033562" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026992" "04210" "00033563" "00234" "Familial, autosomal recessive" "" "Onset Severe pigmentary Retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026993" "04210" "00033564" "00234" "Familial, autosomal recessive" "30y" "Severe Maculopathy ; Onset Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000026994" "04210" "00033565" "00234" "Familial, autosomal recessive" "2y" "Nystagmus; fundus salt andpepper; Onset Night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000026995" "04210" "00033566" "00234" "Familial, autosomal recessive" "31y" "Nystagmus; Retinitis pigmentosa with macular atrophy; Onset Photophobia;night blindness" "" "" "" "" "" "" "" "" "" "" "" "0000026996" "02508" "00033567" "00234" "Familial, autosomal recessive" "41y" "Rdwith Md; Onset Right Eye Keratoconus" "" "" "" "" "" "" "" "" "" "" "" "0000026997" "00000" "00033568" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026998" "04210" "00033569" "00234" "Familial, autosomal recessive" "" "Chorioretinal atrophy; pigmentary mottling; narrowing of retinal arterioles; stippling of the macula; extensive area of atrophy; keratoconus andcortical cataracts" "" "" "" "" "" "" "" "" "" "" "" "0000026999" "04210" "00033570" "00234" "Familial, autosomal recessive" "" "Peripheral bone-spicule like pigmentary deposits and tiny areas of pigmentary atrophy and stippling in the macular region; keratoconus; and clear lenses" "" "" "" "" "" "" "" "" "" "" "" "0000027000" "04210" "00033571" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027001" "04210" "00033572" "00234" "Familial, autosomal recessive" "16y" "Mild Maculopathy; Moderate pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "" "" "0000027002" "04210" "00033573" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000027003" "04210" "00033574" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000027004" "04210" "00033575" "00234" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "0000027005" "00198" "00033576" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027006" "00000" "00033577" "00234" "Isolated (sporadic)" "" "-" "" "" "" "" "" "" "" "" "" "" "" "0000027007" "00000" "00033578" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027008" "00000" "00033579" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027009" "00000" "00033580" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027010" "00000" "00033581" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027011" "00000" "00033582" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027012" "00000" "00033583" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027013" "00000" "00033584" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027014" "00000" "00033585" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027015" "04210" "00033586" "00234" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027016" "00000" "00033587" "00234" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027018" "04210" "00033589" "00242" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027043" "04210" "00033614" "00243" "Familial, autosomal recessive" "0d" "" "1y" "" "" "" "" "" "" "" "" "" "" "0000027044" "04210" "00033615" "00243" "Familial, autosomal recessive" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "0000027118" "04210" "00033689" "00243" "Familial, autosomal recessive" "00y00m00d" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027119" "04210" "00033690" "00243" "Familial, autosomal recessive" "00y00m00d" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027120" "04210" "00033691" "00243" "Familial, autosomal recessive" "00y00m00d" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027121" "04210" "00033692" "00243" "Familial, autosomal recessive" "00y00m00d" "" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000028873" "04210" "00038330" "01251" "Familial, autosomal recessive" "" "Chorioretinal atrophy, extensive pigmentary mottling, narrowing of arterioles, stippling of the macula with extensive area of atrophy, severe keratoconus and cortical cataracts" "" "" "?" "" "" "" "" "" "" "" "" "0000045746" "04210" "00059204" "01552" "Familial, autosomal recessive" "" "early onset progressive loss of vision" "" "" "" "" "" "" "" "" "" "" "" "0000060594" "02508" "00081025" "01758" "Familial, autosomal recessive" "" "Leber congenital amaurosis 4 (OMIM:604393)" "" "" "" "" "" "" "" "" "" "" "" "0000074219" "00381" "00095930" "01769" "Familial, autosomal recessive" "" "Progressive RD" "" "" "" "" "" "" "" "" "" "" "" "0000078346" "00381" "00100109" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000123815" "04211" "00151424" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., retinitis pigmentosa (HP:0000510), short stature (HP:0004322), microcephaly (HP:0000252 ), recurrent glomerulonephritis (HP:0000099);height 143cm (SD-3.4), OFC (SD-3.8); best corrected visual acuity 0.5; 6y-myopia; mild central posterior subcapsular cataract; very thin habitus; early fast puberty; recurrent glomerulonephritis ; painful muscle cramps, elevated CK; no skeletal abnormalities; no heart abnormalities; wide mouth, prognathia, midface hypoplasia; normal hair; soft skin" "14y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127878" "04210" "00155378" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LCA" "" "0000127879" "04210" "00155379" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "LCA" "" "0000155466" "04210" "00207677" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233827" "04214" "00308400" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233899" "04214" "00308471" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000233900" "04214" "00308472" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234026" "04214" "00308598" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234260" "04214" "00308940" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000234261" "04214" "00308941" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000234262" "04214" "00308942" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000234263" "04214" "00308943" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000242057" "04214" "00320013" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa with preserved para-arteriolar retinal pigment epithelium" "" "0000243903" "04214" "00325416" "00006" "Familial, autosomal recessive" "" "Leber congenital amaurosis" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000245257" "04214" "00326791" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant cone-rod dystrophy" "" "0000245258" "04214" "00326792" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant cone-rod dystrophy" "" "0000245259" "04214" "00326793" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000245260" "04214" "00326794" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000245261" "04214" "00326795" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000246498" "04214" "00328271" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250373" "04214" "00332186" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250557" "04214" "00332371" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250558" "04214" "00332372" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250643" "04214" "00332459" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "EORP" "" "0000252116" "04214" "00333931" "00000" "Familial, autosomal recessive" "13y" "clinical category IA2a" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000253351" "04214" "00335405" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa/Leber congenital amaurosis/CRD" "" "0000253549" "04214" "00335629" "00008" "Familial, autosomal recessive" "15y" "Photophobia; Nystagmus; Macular RPE alterations in a bull’s eye pattern with spicular pigmentations in the periphery" "9m" "" "" "" "" "" "" "" "" "Leber’s congenital amaurosis (LCA)" "" "0000253550" "04214" "00335630" "00008" "Familial, autosomal recessive" "6y" "Night Blind; Nystagmus; Keratoconus; Pale optic disc; narrowing of the arterioles; absent foveal reflex but no clear macular abnormalities; no intraretinal pigment migration" "14m" "" "" "" "" "" "" "" "" "Leber’s congenital amaurosis (LCA)" "" "0000253551" "04214" "00335631" "00008" "Familial, autosomal recessive" "9y" "Night Blind; Photophobia; Nystagmus; Mild diffuse RPE alterations; attenuation of retinal vessels; Macular RPE alterations in a bull’s eye pattern, diffuse RPE alterations with scarce intraretinal pigment migration with spicular aspect; sub- or deep intraretinal fine white deposits predominantly along vascular arcades" "10m" "" "" "" "" "" "" "" "" "Leber’s congenital amaurosis (LCA)" "" "0000254149" "04214" "00358889" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000254150" "04214" "00358890" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000254151" "04214" "00358891" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000254152" "04214" "00358892" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000254254" "04214" "00358956" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254366" "04214" "00359069" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254390" "04214" "00359093" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254519" "04214" "00359222" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease or macular dystrophy" "" "0000258943" "04214" "00363593" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000258959" "04214" "00363609" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000258969" "04214" "00363619" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259027" "04214" "00363677" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259188" "04214" "00363849" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259189" "04214" "00363850" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259190" "04214" "00363851" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259191" "04214" "00363852" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259192" "04214" "00363853" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000259193" "04214" "00363854" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267386" "04214" "00372057" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267387" "04214" "00372058" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267400" "04214" "00372071" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267401" "04214" "00372072" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267403" "04214" "00372074" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267732" "04214" "00372417" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267733" "04214" "00372418" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267734" "04214" "00372419" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267809" "04214" "00372494" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267810" "04214" "00372495" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000267815" "04214" "00372500" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000268681" "04214" "00373405" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000268682" "04214" "00373406" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000270167" "04214" "00374957" "00000" "Isolated (sporadic)" "4y" "best corrected visual acuity light perception/light perception" "1y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000271960" "04214" "00376749" "00000" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271966" "04214" "00376755" "00000" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "" "Decreased peripheral vision, night blindness" "" "0000271990" "04214" "00376779" "00000" "Familial, autosomal dominant" "14y" "" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "0000271993" "04214" "00376782" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272352" "04214" "00377194" "00000" "Familial, autosomal dominant" "17y" "see paper" "12y" "12y6m" "" "" "" "" "" "" "" "retinal disease" "" "0000272353" "04214" "00377195" "00000" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000272354" "04214" "00377196" "00000" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000272423" "04214" "00377265" "00000" "Familial, autosomal dominant" "23y" "see paper" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000272669" "04214" "00377519" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" "" "0000273033" "04214" "00377887" "00000" "Isolated (sporadic)" "13y" "" "<1y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis" "" "0000273663" "04214" "00379809" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000274133" "04214" "00380282" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274218" "04214" "00380367" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000274878" "04214" "00381027" "00000" "Isolated (sporadic)" "<1y" "poor vision, nystagmus" "1y11m" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000274935" "04214" "00381084" "00000" "Familial" "43y" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000274999" "04214" "00381148" "00000" "Unknown" "" "" "5y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275029" "04214" "00381178" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275030" "04214" "00381179" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275031" "04214" "00381180" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275032" "04214" "00381181" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275033" "04214" "00381182" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000275436" "04214" "00381594" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275444" "04214" "00381602" "00000" "Isolated (sporadic)" "" "" "50y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275484" "04214" "00381642" "00000" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275534" "04214" "00381692" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA), early cone-rod dystrophy (CRD)" "" "0000275774" "04214" "00381932" "00000" "Familial, autosomal recessive" "50y" "BCVA OD-OS:1/35-1/35; nystagmus; strabismus ; cataract" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000275775" "04214" "00381933" "00000" "Familial, autosomal recessive" "31y" "BCVA OD-OS:counting fingers; nystagmus; cataract" "2y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000276059" "04214" "00382210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276060" "04214" "00382211" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276328" "04214" "00382479" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000277551" "04214" "00383766" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277743" "04214" "00383958" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277992" "04214" "00384207" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000278776" "04214" "00384992" "00000" "Isolated (sporadic)" "9y" "photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: NLP/NLP" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278779" "04214" "00384995" "00000" "Familial, autosomal recessive" "9y" "photophobia, nystagmus, no oculodigital sign, ERG severely declined, best corrected visual acuity right/left eye: 0.2/0.1" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278780" "04214" "00384996" "00000" "Isolated (sporadic)" "26y" "no nyctalopia/photophobia, nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: LP/LP" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278796" "04214" "00385012" "00000" "Familial, autosomal recessive" "4y" "no nyctalopia/photophobia, nystagmus, ERG extinguished, best corrected visual acuity right/left eye: NA" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278799" "04214" "00385015" "00000" "Isolated (sporadic)" "24y" "nyctalopia, nystagmus, best corrected visual acuity right/left eye: 0.05/0.04" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278806" "04214" "00385022" "00000" "Isolated (sporadic)" "1y6m" "no nyctalopia/photophobia, nystagmus, ERG extinguished, best corrected visual acuity right/left eye: NA" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278831" "04214" "00385047" "00000" "Isolated (sporadic)" "46y" "nyctalopia, nystagmus, best corrected visual acuity right/left eye: LP/LP" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278854" "04214" "00385070" "00000" "Familial, autosomal recessive" "13y" "no nyctalopia/photophobia, nystagmus, oculodigital sign, best corrected visual acuity right/left eye: LP/LP" "6m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278870" "04214" "00385086" "00000" "Isolated (sporadic)" "1y" "nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA" "2m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278877" "04214" "00385093" "00000" "Isolated (sporadic)" "29y" "nyctalopia, nystagmus, oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: LP/LP" "4m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000279977" "04214" "00386174" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000280065" "04214" "00386262" "00000" "Familial, autosomal recessive" "40y" "" "" "0m" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000280066" "04214" "00386263" "00000" "Familial, autosomal recessive" "57y" "" "" "0m" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000280557" "04214" "00386757" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282279" "04214" "00388738" "00000" "Familial, autosomal recessive" "36y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282513" "04214" "00388972" "00000" "Familial, autosomal recessive" "19y" "age at genetic diagnosis mentioned" "" "13y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282550" "04214" "00389009" "00000" "Familial, autosomal recessive" "31y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000282636" "04214" "00389095" "00000" "Familial, autosomal recessive" "12y" "age at genetic diagnosis mentioned" "" "10y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000283049" "04214" "00389508" "00000" "Familial, autosomal recessive" "52y" "age at genetic diagnosis mentioned" "" "49y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283109" "04214" "00389568" "00000" "Familial, autosomal recessive" "31y" "age at genetic diagnosis mentioned" "" "29y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283110" "04214" "00389569" "00000" "Familial, autosomal recessive" "27y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283700" "04214" "00390162" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284787" "04214" "00391347" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis 4 (604393)" "Leber congenital amaurosis 4 (604393)" "" "0000284926" "04214" "00391601" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000286769" "04214" "00393563" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286927" "04214" "00393721" "00000" "Isolated (sporadic)" "55y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286996" "04214" "00393790" "00000" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis (LCA)" "" "0000298314" "04214" "00405817" "00000" "Familial, autosomal recessive" "19y" "Visual acuity: light perception/hand motion, no view" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298315" "04214" "00405818" "00000" "Familial, autosomal recessive" "17y" "Visual acuity: light perception both eyes, no view" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298316" "04214" "00405819" "00000" "Familial, autosomal recessive" "60y" "Visual acuity: light perception both eyes, keratoconus, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298317" "04214" "00405820" "00000" "Familial, autosomal recessive" "73y" "NVisual acuity: light perception both eyes, keratoconus, no view" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298318" "04214" "00405821" "00000" "Familial, autosomal recessive" "10y" "Visual acuity: light perception/hand motion, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298319" "04214" "00405822" "00000" "Familial, autosomal recessive" "12y" "hand motion both eyes, possible keratoconus, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298320" "04214" "00405823" "00000" "Familial, autosomal recessive" "8y" "Visual acuity: light perception both eyes, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298321" "04214" "00405824" "00000" "Familial, autosomal recessive" "2y" "Visual acuity: light perception both eyes, maculopathy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298322" "04214" "00405825" "00000" "Familial, autosomal recessive" "9y" "Visual acuity: light perception both eyes, keratoconus, no view" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298323" "04214" "00405826" "00000" "Familial, autosomal recessive" "60y" "Visual acuity: light perception, keratoconus in right eye, possible no view" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298324" "04214" "00405827" "00000" "Familial, autosomal recessive" "55y" "NVisual acuity: light perception both eyes, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298325" "04214" "00405828" "00000" "Familial, autosomal recessive" "13y" "Visual acuity: light perception both eyes, retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298326" "04214" "00405829" "00000" "Familial, autosomal recessive" "22y" "had both eyes enucleated at the age of 22 years because of excruciating pain" "<0m" "" "no light perception from birth" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298327" "04214" "00405830" "00000" "Familial, autosomal recessive" "22y" "had both eyes enucleated at the age of 22 years because of excruciating pain" "<0m" "" "no light perception from birth" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298328" "04214" "00405831" "00000" "Familial, autosomal recessive" "1y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298329" "04214" "00405832" "00000" "Familial, autosomal recessive" "5y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298330" "04214" "00405833" "00000" "Familial, autosomal recessive" "6m" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298331" "04214" "00405834" "00000" "Familial, autosomal recessive" "3y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298332" "04214" "00405835" "00000" "Familial, autosomal recessive" "23y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298333" "04214" "00405836" "00000" "Familial, autosomal recessive" "27y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298334" "04214" "00405837" "00000" "Familial, autosomal recessive" "33y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298335" "04214" "00405838" "00000" "Familial, autosomal recessive" "40y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298336" "04214" "00405839" "00000" "Familial, autosomal recessive" "39y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298337" "04214" "00405840" "00000" "Familial, autosomal recessive" "40y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298338" "04214" "00405841" "00000" "Familial, autosomal recessive" "45y" "severe visual disturbances in early childhood, nystagmus, and nondetectable electroretinograms (ERGs); profound loss of foveal as well as extrafoveal photoreceptors" "" "" "" "" "" "" "" "" "" "Later-Onset Retinal Degeneration" "" "0000298339" "04214" "00405842" "00000" "Familial, autosomal recessive" "" "" "" "" "nystagmus the day after birth" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298340" "04214" "00405843" "00000" "Familial, autosomal recessive" "" "" "" "" "nystagmus the day after birth" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298341" "04214" "00405844" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298342" "04214" "00405845" "00000" "Familial, autosomal recessive" "19y" "amaurotic pupils, moderate, bone spicules" "0" "" "Poor vision, nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298343" "04214" "00405846" "00000" "Familial, autosomal recessive" "24y" "Moderate, bone spicules" "0" "" "Poor vision, nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298344" "04214" "00405847" "00000" "Familial, autosomal recessive" "2y" "esotropia, amaurotic pupils, photoattraction" "2m" "" "Poor vision, nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298345" "04214" "00405848" "00000" "Familial, autosomal recessive" "30y" "exotropia, amaurotic pupils, moderate pigmentary retinopathy" "0" "" "Poor vision, nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298346" "04214" "00405849" "00000" "Familial, autosomal recessive" "36y" "exotropia, amaurotic pupils, moderate pigmentary retinopathy" "0" "" "Poor vision, nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298347" "04214" "00405850" "00000" "Familial, autosomal recessive" "17y" "amaurotic pupils, photoattraction, moderate pigmentary retinopathy" "6m" "" "Poor vision, nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298348" "04214" "00405851" "00000" "Familial, autosomal recessive" "2y" "" "2m15d" "" "Nystagmus" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298349" "04214" "00405852" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298350" "04214" "00405853" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298351" "04214" "00405854" "00000" "Familial, autosomal recessive" "56y" "no perception of light, nystagmus" "4y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298352" "04214" "00405855" "00000" "Familial, autosomal recessive" "16y" "no peripheral vision, counting fingers" "3y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298353" "04214" "00405856" "00000" "Familial, autosomal recessive" "22y" "no peripheral vision, counting fingers" "4y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298354" "04214" "00405857" "00000" "Familial, autosomal recessive" "19y" "no peripheral vision, hand motion, nystagmus" "3y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298355" "04214" "00405858" "00000" "Familial, autosomal recessive" "17y" "no peripheral vision" "5y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298356" "04214" "00405859" "00000" "Familial, autosomal recessive" "29y" "no peripheral vision, hand motion, nystagmus" "4y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298357" "04214" "00405860" "00000" "Familial, autosomal recessive" "21y" "no peripheral vision, nystagmus" "3y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298358" "04214" "00405861" "00000" "Familial, autosomal recessive" "30y" "VA: light perception, nystagmus" "<4y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298359" "04214" "00405862" "00000" "Familial, autosomal recessive" "28y" "VA: light perception, nystagmus" "<4y" "" "night blindness" "" "" "" "" "" "" "autosomal recessive retinal degeneration" "" "0000298360" "04214" "00405863" "00000" "Familial, autosomal recessive" "4y6m" "vision loss, nystagmus, cataracts, stage 4 keratoconus, retinal abnormalities (black spots), lack of glaucoma, and dysmorphic features" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298361" "04214" "00405864" "00000" "Familial, autosomal recessive" "6y6m" "vision loss, nystagmus, cataracts, stage 4 keratoconus, retinal abnormalities (black spots), lack of glaucoma, and dysmorphic features" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298362" "04214" "00405865" "00000" "Familial, autosomal recessive" "3y" "vision loss, nystagmus, cataracts, stage 4 keratoconus, retinal abnormalities (black spots), lack of glaucoma, and dysmorphic features" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298363" "04214" "00405866" "00000" "Familial, autosomal recessive" "22y" "intellectual disability, epilepsy, Tourette syndrome and an abnormal gait" "" "" "low vision, keratoconus, complicated cataracts, nystagmus, eyeball atrophy" "" "" "" "" "" "" "Leber congenital amaurosis 4 (LCA4) with keratoconus (KCN)" "" "0000298364" "04214" "00405867" "00000" "Familial, autosomal recessive" "17y" "abnormal bulge at the end of his sternum" "" "" "low vision, keratoconus, complicated cataracts, nystagmus, eyeball atrophy" "" "" "" "" "" "" "Leber congenital amaurosis 4 (LCA4) with keratoconus (KCN)" "" "0000298365" "04214" "00405868" "00000" "Familial, autosomal recessive" "" "Macular degeneration, diffuse pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298366" "04214" "00405869" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298367" "04214" "00405870" "00000" "Familial, autosomal recessive" "" "Macular dystrophy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298368" "04214" "00405871" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000298369" "04214" "00405872" "00000" "Familial, autosomal recessive" "" "Extensive loss of the photoreceptor-RPE complex and the EZ, EZ and IZ are only visible in the foveal zone" "" "" "" "" "" "" "" "" "" "Mild retinitis pigmentosa (RP)" "" "0000298370" "04214" "00405873" "00000" "Familial, autosomal recessive" "" "The photoreceptor- RPE complex and the EZ are only visible in the foveal zone" "" "" "" "" "" "" "" "" "" "Mild retinitis pigmentosa (RP)" "" "0000298371" "04214" "00405874" "00000" "Familial, autosomal recessive" "" "Pigmentary changes" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298372" "04214" "00405875" "00000" "Familial, autosomal recessive" "" "Loss of outer retinal structure" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298373" "04214" "00405876" "00000" "Familial, autosomal recessive" "" "Pigmentary changes" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298374" "04214" "00405877" "00000" "Familial, autosomal recessive" "" "Macular atrophy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298375" "04214" "00405878" "00000" "Familial, autosomal recessive" "" "Macular dystrophy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298376" "04214" "00405879" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298377" "04214" "00405880" "00000" "Familial, autosomal recessive" "" "Attenuated vessels, carpet like retinal degeneration" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298378" "04214" "00405881" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298379" "04214" "00405882" "00000" "Familial, autosomal recessive" "" "Peripheral retinal mottling, severe maculopathy, moderate pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298380" "04214" "00405883" "00000" "Familial, autosomal recessive" "" "Severe pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298381" "04214" "00405884" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA); early-onset severe retinal dystrophy (EOSRD)" "" "0000298382" "04214" "00405885" "00000" "Familial, autosomal recessive" "" "Moderate pigmentary changes. Bone spicule retinopathy, no obvious macular atrophy but some pigmentary changes seen in the macula, reduced retinal and foveal thickness, full field and rod ERG responses reduced in R and L, subnormal and delayed cone 30 Hz flicker ERG in R and L" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD)" "" "0000298383" "04214" "00405886" "00000" "Familial, autosomal recessive" "" "Pigmentary retinopathy with severe clumping, severe macular atrophy" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD)" "" "0000298384" "04214" "00405887" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298385" "04214" "00405888" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298386" "04214" "00405889" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA); early-onset severe retinal dystrophy (EOSRD)" "" "0000298387" "04214" "00405890" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA); early-onset severe retinal dystrophy (EOSRD)" "" "0000298388" "04214" "00405891" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298389" "04214" "00405892" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298390" "04214" "00405893" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA); early-onset severe retinal dystrophy (EOSRD)" "" "0000298391" "04214" "00405894" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "juvenile retinitis pigmentosa (RP); adCORD" "" "0000298392" "04214" "00405895" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA); early-onset severe retinal dystrophy (EOSRD)" "" "0000298393" "04214" "00405896" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA); early-onset severe retinal dystrophy (EOSRD)" "" "0000298394" "04214" "00405897" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298395" "04214" "00405898" "00000" "Familial, autosomal recessive" "" "VA: 20/200 (better eye); Primarily peripapillary hypopigmentation with patchy pigment clumping as well as drusen like deposits and macular hypopigmentary changes" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298396" "04214" "00405899" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298397" "04214" "00405900" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298398" "04214" "00405901" "00000" "Familial, autosomal recessive" "" "VA: 6/30 – 6/38; Moderate pigmentary changes, clumping Macular pigmentation and atrophy" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD)" "" "0000298399" "04214" "00405902" "00000" "Familial, autosomal recessive" "" "VA: 3/60 - 3/60; Severe pigmentary retinopathy, no maculopathy" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD); retinitis pigmentosa (RP)" "" "0000298481" "04214" "00405982" "00000" "Familial, autosomal recessive" "9m" "Nystagmus, photophobia" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298482" "04214" "00405983" "00000" "Familial, autosomal recessive" "14m" "night blindness, nystagmus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298483" "04214" "00405984" "00000" "Familial, autosomal recessive" "10m" "night blindness, photophobia, nystagmus" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000298875" "04214" "00406388" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: 5/160, non-recordable electroretinogram, optic atrophy, diffuse vascular attenuation and retinal atrophy with midperiheral bone spicules" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298882" "04214" "00406395" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298883" "04214" "00406396" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298884" "04214" "00406397" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298885" "04214" "00406398" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: light perception only, non-recordable electroretinogramKCNS at age of 12 years, diffuse retinal atrophy and optic nerve atrophy, hyperopia (+8.00 spherical equivalent), autism, consanguinity (1st cousin parents)" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298886" "04214" "00406399" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298887" "04214" "00406400" "00000" "Familial, autosomal recessive" "" "best corrected visual acuity: No fixation, non-recordable electroretinogram, slow pupils, high hyperopia (+7.75 spherical equivalent), nystagmus, mild optic nerve atrophy, midretinal pigment degeneration" "0m" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298888" "04214" "00406401" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000298938" "04214" "00406451" "00000" "Familial, autosomal recessive" "22y" "best corrected visual acuity better eye: light perception" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000299578" "04214" "00407224" "00000" "Familial" "" "Macular degeneration, diffuse pigmentary retinopathy" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299579" "04214" "00407225" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299580" "04214" "00407226" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000299581" "04214" "00407227" "00000" "Familial" "" "Extensive loss of the photoreceptor-RPE complex and the EZ, EZ and IZ are only visible in the foveal zone" "" "" "" "" "" "" "" "" "" "mild retinitis pigmentosa (RP)" "" "0000299582" "04214" "00407228" "00000" "Familial" "" "The photoreceptor- RPE complex and the EZ are only visible in the foveal zone" "" "" "" "" "" "" "" "" "" "mild retinitis pigmentosa (RP)" "" "0000299583" "04214" "00407229" "00000" "Familial" "" "Pigmentary changes" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299584" "04214" "00407230" "00000" "Unknown" "" "Loss of outer retinal structure" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299585" "04214" "00407231" "00000" "Familial" "" "Pigmentary changes" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299586" "04214" "00407232" "00000" "Familial" "" "Macular atrophy" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299587" "04214" "00407233" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299588" "04214" "00407234" "00000" "Familial" "" "Attenuated vessels, carpet like retinal degeneration" "" "" "" "" "" "" "" "" "" "leber congenital amaurosis (LCA)" "" "0000299589" "04214" "00407235" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD), leber congenital amaurosis (LCA)" "" "0000299590" "04214" "00407236" "00000" "Familial" "" "Moderate pigmentary changes. Bone spicule retinopathy, no obvious macular atrophy but some pigmentary changes seen in the macula, reduced retinal and foveal thickness, full field and rod ERG responses reduced in R and L, subnormal and delayed cone 30 Hz flicker ERG in R and L" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD)" "" "0000299591" "04214" "00407237" "00000" "Familial" "" "Pigmentary retinopathy with severe clumping, severe macular atrophy" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD)" "" "0000299592" "04214" "00407238" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant cone-rod dystrophy (adCORD), juvenile retinitis pigmentosa (RP)" "" "0000299593" "04214" "00407239" "00000" "Familial" "" "VA: 6/30 – 6/38; Moderate pigmentary changes, clumping Macular pigmentation and atrophy" "" "" "" "" "" "" "" "" "" "early-onset severe retinal dystrophy (EOSRD)" "" "0000299594" "04214" "00407240" "00000" "Familial" "" "VA: 3/60 - 3/60; Severe pigmentary retinopathy, no maculopathy" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP), early-onset severe retinal dystrophy (EOSRD)" "" "0000318060" "04214" "00426922" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000318064" "04214" "00426926" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000320565" "04210" "00429693" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320578" "00112" "00429706" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320620" "00112" "00429748" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320773" "00112" "00429901" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320964" "04210" "00430092" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336274" "00198" "00447075" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000348600" "04214" "00461100" "00006" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 468 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033208" "00033140" "1" "00229" "00229" "2012-02-04 15:57:29" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033220" "00033152" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033227" "00033159" "1" "00229" "00229" "2012-02-04 15:57:29" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033229" "00033161" "1" "00229" "00229" "2012-02-04 15:13:24" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033448" "00033380" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033449" "00033381" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033450" "00033382" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033451" "00033383" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033452" "00033384" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033453" "00033385" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA" "DNA" "" "" "0000033454" "00033386" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033455" "00033387" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033456" "00033388" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033457" "00033389" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033458" "00033390" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033459" "00033391" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033460" "00033392" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033461" "00033393" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033462" "00033394" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033463" "00033395" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033464" "00033396" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ" "DNA" "" "" "0000033465" "00033397" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ" "DNA" "" "" "0000033466" "00033398" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033467" "00033399" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;DHPLC" "DNA" "" "" "0000033468" "00033400" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;DHPLC" "DNA" "" "" "0000033469" "00033401" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;DHPLC" "DNA" "" "" "0000033470" "00033402" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;DHPLC" "DNA" "" "" "0000033471" "00033403" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;DHPLC" "DNA" "" "" "0000033472" "00033404" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;DHPLC" "DNA" "" "" "0000033473" "00033405" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033474" "00033406" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033475" "00033407" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033476" "00033408" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033477" "00033409" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033478" "00033410" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033479" "00033411" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033480" "00033412" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033481" "00033413" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033482" "00033414" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033483" "00033415" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033484" "00033416" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033485" "00033417" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000033486" "00033418" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000033487" "00033419" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033488" "00033420" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033489" "00033421" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033490" "00033422" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033491" "00033423" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033492" "00033424" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033493" "00033425" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033494" "00033426" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033495" "00033427" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033496" "00033428" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033497" "00033429" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033498" "00033430" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033499" "00033431" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033501" "00033433" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000033502" "00033434" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000033503" "00033435" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;DHPLC" "DNA" "" "" "0000033504" "00033436" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033505" "00033437" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033506" "00033438" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033507" "00033439" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033508" "00033440" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033509" "00033441" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033510" "00033442" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033511" "00033443" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA" "DNA" "" "" "0000033512" "00033444" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033513" "00033445" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033514" "00033446" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033515" "00033447" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033516" "00033448" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033517" "00033449" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033518" "00033450" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033519" "00033451" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033520" "00033452" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ" "DNA" "" "" "0000033521" "00033453" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ" "DNA" "" "" "0000033522" "00033454" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ" "DNA" "" "" "0000033523" "00033455" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033524" "00033456" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033527" "00033459" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033528" "00033460" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033529" "00033461" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033530" "00033462" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033531" "00033463" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033532" "00033464" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033533" "00033465" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033534" "00033466" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033535" "00033467" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033536" "00033468" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033537" "00033469" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033538" "00033470" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033539" "00033471" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033540" "00033472" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033541" "00033473" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033542" "00033474" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033543" "00033475" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033544" "00033476" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033545" "00033477" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033546" "00033478" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033547" "00033479" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033548" "00033480" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033549" "00033481" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033550" "00033482" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033551" "00033483" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033552" "00033484" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033553" "00033485" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033554" "00033486" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033555" "00033487" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033556" "00033488" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033557" "00033489" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033558" "00033490" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033559" "00033491" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033560" "00033492" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033561" "00033493" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033562" "00033494" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033563" "00033495" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033564" "00033496" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033565" "00033497" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033566" "00033498" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;DHPLC" "DNA" "" "" "0000033567" "00033499" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033568" "00033500" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033569" "00033501" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033570" "00033502" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033571" "00033503" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033572" "00033504" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033573" "00033505" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033574" "00033506" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033575" "00033507" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033576" "00033508" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033577" "00033509" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033578" "00033510" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033579" "00033511" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033580" "00033512" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033581" "00033513" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033582" "00033514" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033583" "00033515" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ" "DNA" "" "" "0000033584" "00033516" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ" "DNA" "" "" "0000033585" "00033517" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;PAGE;SEQ;arraySNP" "DNA" "" "" "0000033586" "00033518" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;PAGE;SEQ;arraySNP" "DNA" "" "" "0000033587" "00033519" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;PAGE;SEQ;arraySNP" "DNA" "" "" "0000033588" "00033520" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SEQ" "DNA" "" "" "0000033589" "00033521" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033590" "00033522" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033591" "00033523" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033592" "00033524" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;PCR" "DNA" "" "" "0000033593" "00033525" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;PCR" "DNA" "" "" "0000033594" "00033526" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;PCR" "DNA" "" "" "0000033595" "00033527" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033596" "00033528" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033597" "00033529" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033598" "00033530" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033599" "00033531" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033600" "00033532" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033601" "00033533" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033602" "00033534" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033603" "00033535" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033604" "00033536" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033605" "00033537" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033606" "00033538" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033607" "00033539" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033610" "00033542" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033611" "00033543" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033612" "00033544" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033613" "00033545" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033614" "00033546" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033615" "00033547" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033616" "00033548" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033617" "00033549" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033618" "00033550" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033619" "00033551" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033620" "00033552" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ" "DNA" "" "" "0000033621" "00033553" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033622" "00033554" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033623" "00033555" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033624" "00033556" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033625" "00033557" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033626" "00033558" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033627" "00033559" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033628" "00033560" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033629" "00033561" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033630" "00033562" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SEQ;DHPLC;arraySNP" "DNA" "" "" "0000033631" "00033563" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033632" "00033564" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033633" "00033565" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;PCR;SEQ" "DNA" "" "" "0000033634" "00033566" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;PCR;SEQ" "DNA" "" "" "0000033635" "00033567" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCRdig;SEQ;arraySNP" "DNA" "" "" "0000033636" "00033568" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033637" "00033569" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033638" "00033570" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033639" "00033571" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;DHPLC;SEQ;SSCA" "DNA" "" "" "0000033640" "00033572" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "PCR;SSCA;SEQ" "DNA" "" "" "0000033641" "00033573" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033642" "00033574" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033643" "00033575" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033644" "00033576" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033645" "00033577" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033646" "00033578" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033647" "00033579" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033648" "00033580" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033649" "00033581" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033650" "00033582" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033651" "00033583" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033652" "00033584" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033653" "00033585" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033654" "00033586" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "SSCA;SEQ;PCR" "DNA" "" "" "0000033655" "00033587" "1" "00234" "00234" "2012-10-12 13:26:32" "" "" "arraySNP;SEQ;PCR" "DNA" "" "" "0000033657" "00033589" "1" "00242" "00242" "2013-04-26 13:52:02" "" "" "SEQ" "DNA" "" "" "0000033682" "00033614" "1" "00243" "00243" "2014-01-25 11:00:26" "00006" "2014-01-25 14:24:27" "SEQ" "DNA" "" "" "0000033683" "00033615" "1" "00243" "00243" "2014-01-25 11:08:42" "00006" "2014-01-25 14:27:48" "SEQ" "DNA" "" "" "0000033757" "00033689" "1" "00243" "00243" "2015-02-16 11:22:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000033758" "00033690" "1" "00243" "00243" "2015-02-16 11:26:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000033759" "00033691" "1" "00243" "00243" "2015-02-16 11:44:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000033760" "00033692" "1" "00243" "00243" "2015-02-16 11:53:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000038561" "00038330" "1" "01251" "01251" "2015-05-01 22:00:00" "00006" "2015-05-06 09:22:08" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000059228" "00059204" "1" "01552" "01552" "2016-03-04 14:23:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000081137" "00081025" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000096333" "00095930" "1" "01769" "01769" "2017-01-25 21:02:20" "" "" "SEQ" "DNA" "WBC" "" "0000100513" "00100109" "1" "01769" "01769" "2017-01-30 20:30:49" "" "" "SEQ" "DNA" "WBC" "" "0000152279" "00151424" "1" "00006" "00006" "2018-01-19 13:27:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156243" "00155378" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156244" "00155379" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000208718" "00207677" "1" "01244" "01244" "2018-11-27 15:56:02" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000292989" "00291821" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305725" "00304596" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309544" "00308400" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309616" "00308471" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309617" "00308472" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000309743" "00308598" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310085" "00308940" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310086" "00308941" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310087" "00308942" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310088" "00308943" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000321197" "00320013" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "HD ;SEQ" "DNA" "Blood" "" "0000326627" "00325416" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000328004" "00326791" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000328005" "00326792" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000328006" "00326793" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000328007" "00326794" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000328008" "00326795" "1" "00008" "00008" "2021-01-14 12:40:33" "" "" "SSCA; SEQ" "DNA" "" "" "0000329486" "00328271" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000333406" "00332186" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333594" "00332371" "1" "00000" "00006" "2021-02-17 18:00:14" "" "" "SEQ" "DNA" "" "" "0000333595" "00332372" "1" "00000" "00006" "2021-02-17 18:00:14" "" "" "SEQ" "DNA" "" "" "0000333683" "00332459" "1" "00000" "00006" "2021-02-19 15:15:03" "" "" "SEQ-NG" "DNA" "" "150-gene panel" "0000335157" "00333931" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336634" "00335405" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336833" "00335605" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "DHPLC;PCR;SEQ" "DNA" "" "" "0000336857" "00335629" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000336858" "00335630" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000336859" "00335631" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "arraySEQ;PCR;SEQ" "DNA" "" "" "0000360122" "00358889" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360123" "00358890" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360124" "00358891" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360125" "00358892" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360193" "00358956" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360307" "00359069" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360331" "00359093" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360460" "00359222" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000364821" "00363593" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364837" "00363609" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364847" "00363619" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364905" "00363677" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365077" "00363849" "1" "01243" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365078" "00363850" "1" "01243" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365079" "00363851" "1" "01243" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365080" "00363852" "1" "01243" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365081" "00363853" "1" "01243" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000365082" "00363854" "1" "01243" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000373284" "00372057" "1" "00000" "00006" "2021-05-06 16:52:04" "" "" "PE;SEQ" "DNA" "" "" "0000373285" "00372058" "1" "00000" "00006" "2021-05-06 16:52:04" "" "" "PE;SEQ" "DNA" "" "" "0000373299" "00372071" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "arraySNP;SEQ" "DNA" "" "" "0000373300" "00372072" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "arraySNP;SEQ" "DNA" "" "" "0000373302" "00372074" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "arraySNP;SEQ" "DNA" "" "" "0000373650" "00372417" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373651" "00372418" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373652" "00372419" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373727" "00372494" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373728" "00372495" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000373733" "00372500" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374640" "00373405" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ" "DNA" "" "" "0000374641" "00373406" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "SEQ" "DNA" "" "" "0000376151" "00374957" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000377955" "00376749" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377961" "00376755" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377985" "00376779" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377988" "00376782" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378399" "00377194" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378400" "00377195" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378401" "00377196" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378470" "00377265" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378722" "00377519" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing" "0000379091" "00377887" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000381011" "00379809" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381496" "00380282" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "autozygome-guided sequencing" "0000381581" "00380367" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000382241" "00381027" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" "" "0000382298" "00381084" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySNP;SEQ;PCR" "DNA" "blood" "" "0000382363" "00381148" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ" "DNA" "blood" "Asper chip analysis" "0000382393" "00381178" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382394" "00381179" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382395" "00381180" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382396" "00381181" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382397" "00381182" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000382810" "00381594" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382818" "00381602" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382858" "00381642" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382908" "00381692" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000383148" "00381932" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383149" "00381933" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383424" "00382210" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383425" "00382211" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383693" "00382479" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384991" "00383766" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385183" "00383958" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385432" "00384207" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000386221" "00384992" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386224" "00384995" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386225" "00384996" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386241" "00385012" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386244" "00385015" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386251" "00385022" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386276" "00385047" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386299" "00385070" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386315" "00385086" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386322" "00385093" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000387403" "00386174" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387491" "00386262" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387492" "00386263" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387985" "00386757" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000389981" "00388738" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390215" "00388972" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390252" "00389009" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390338" "00389095" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390751" "00389508" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390811" "00389568" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390812" "00389569" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391403" "00390162" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392589" "00391347" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392842" "00391601" "1" "00000" "03840" "2021-11-18 13:42:28" "" "" "?" "DNA" "blood" "224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien" "0000394811" "00393563" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394969" "00393721" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395038" "00393790" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000407058" "00405817" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407059" "00405818" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407060" "00405819" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407061" "00405820" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407062" "00405821" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407063" "00405822" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407064" "00405823" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407065" "00405824" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407066" "00405825" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407067" "00405826" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407068" "00405827" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407069" "00405828" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407070" "00405829" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ;SSCA" "DNA" "blood" "" "0000407071" "00405830" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ;SSCA" "DNA" "blood" "" "0000407072" "00405831" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407073" "00405832" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407074" "00405833" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407075" "00405834" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407076" "00405835" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407077" "00405836" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407078" "00405837" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407079" "00405838" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407080" "00405839" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407081" "00405840" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407082" "00405841" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "?" "DNA" "" "" "0000407083" "00405842" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000407084" "00405843" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000407085" "00405844" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000407086" "00405845" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407087" "00405846" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407088" "00405847" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407089" "00405848" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407090" "00405849" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407091" "00405850" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407092" "00405851" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407093" "00405852" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407094" "00405853" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PE;SEQ;PCR" "DNA" "blood" "bi-directional sequencing" "0000407095" "00405854" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407096" "00405855" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407097" "00405856" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407098" "00405857" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407099" "00405858" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407100" "00405859" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407101" "00405860" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407102" "00405861" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407103" "00405862" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000407104" "00405863" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "blood" "" "0000407105" "00405864" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "blood" "" "0000407106" "00405865" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "blood" "" "0000407107" "00405866" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000407108" "00405867" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000407109" "00405868" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407110" "00405869" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407111" "00405870" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407112" "00405871" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407113" "00405872" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407114" "00405873" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407115" "00405874" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407116" "00405875" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407117" "00405876" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407118" "00405877" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407119" "00405878" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407120" "00405879" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407121" "00405880" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407122" "00405881" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407123" "00405882" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407124" "00405883" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407125" "00405884" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407126" "00405885" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407127" "00405886" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407128" "00405887" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407129" "00405888" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407130" "00405889" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407131" "00405890" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407132" "00405891" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407133" "00405892" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407134" "00405893" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407135" "00405894" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407136" "00405895" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407137" "00405896" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407138" "00405897" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407139" "00405898" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407140" "00405899" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407141" "00405900" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407142" "00405901" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407143" "00405902" "1" "00000" "00008" "2022-03-23 03:47:23" "" "" "SEQ" "DNA" "" "" "0000407223" "00405982" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "?" "DNA" "" "microarray chip" "0000407224" "00405983" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "?" "DNA" "" "microarray chip" "0000407225" "00405984" "1" "00000" "00008" "2022-03-25 07:05:25" "" "" "?" "DNA" "" "microarray chip" "0000407630" "00406388" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407637" "00406395" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407638" "00406396" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407639" "00406397" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407640" "00406398" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407641" "00406399" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407642" "00406400" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407643" "00406401" "1" "00000" "03840" "2022-03-29 19:09:00" "" "" "SEQ" "DNA" "blood" "" "0000407693" "00406451" "1" "00000" "03840" "2022-03-30 16:49:18" "" "" "SSCA;PCR;DHPLC;SEQ" "DNA" "blood" "" "0000408472" "00407224" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408473" "00407225" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408474" "00407226" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408475" "00407227" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408476" "00407228" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408477" "00407229" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408478" "00407230" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408479" "00407231" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408480" "00407232" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408481" "00407233" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408482" "00407234" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408483" "00407235" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408484" "00407236" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408485" "00407237" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408486" "00407238" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408487" "00407239" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000408488" "00407240" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "?" "DNA" "" "" "0000428242" "00426922" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000428246" "00426926" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000431106" "00429693" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431119" "00429706" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431161" "00429748" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431314" "00429901" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431505" "00430092" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448652" "00447075" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452746" "00451147" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000462732" "00461100" "1" "00006" "00006" "2025-01-31 08:52:59" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 497 "{{screeningid}}" "{{geneid}}" "0000033208" "AIPL1" "0000033208" "RHO" "0000033220" "ABCA4" "0000033220" "AIPL1" "0000033220" "GUCY2D" "0000033220" "NR2E3" "0000033227" "AIPL1" "0000033227" "RHO" "0000033229" "AIPL1" "0000033229" "C2orf71" "0000033229" "CFH" "0000033229" "NRL" "0000033448" "AIPL1" "0000033449" "AIPL1" "0000033450" "AIPL1" "0000033451" "AIPL1" "0000033452" "AIPL1" "0000033453" "AIPL1" "0000033454" "AIPL1" "0000033455" "AIPL1" "0000033456" "AIPL1" "0000033457" "AIPL1" "0000033458" "AIPL1" "0000033459" "AIPL1" "0000033460" "AIPL1" "0000033461" "AIPL1" "0000033462" "AIPL1" "0000033463" "AIPL1" "0000033464" "AIPL1" "0000033465" "AIPL1" "0000033466" "AIPL1" "0000033467" "AIPL1" "0000033468" "AIPL1" "0000033469" 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"0000033617" "AIPL1" "0000033618" "AIPL1" "0000033619" "AIPL1" "0000033620" "AIPL1" "0000033621" "AIPL1" "0000033622" "AIPL1" "0000033623" "AIPL1" "0000033624" "AIPL1" "0000033625" "AIPL1" "0000033626" "AIPL1" "0000033627" "AIPL1" "0000033628" "AIPL1" "0000033629" "AIPL1" "0000033630" "AIPL1" "0000033631" "AIPL1" "0000033632" "AIPL1" "0000033633" "AIPL1" "0000033634" "AIPL1" "0000033635" "AIPL1" "0000033636" "AIPL1" "0000033637" "AIPL1" "0000033638" "AIPL1" "0000033639" "AIPL1" "0000033640" "AIPL1" "0000033641" "AIPL1" "0000033642" "AIPL1" "0000033643" "AIPL1" "0000033644" "AIPL1" "0000033645" "AIPL1" "0000033646" "AIPL1" "0000033647" "AIPL1" "0000033648" "AIPL1" "0000033649" "AIPL1" "0000033650" "AIPL1" "0000033651" "AIPL1" "0000033652" "AIPL1" "0000033653" "AIPL1" "0000033654" "AIPL1" "0000033655" "AIPL1" "0000033657" "AIPL1" "0000033682" "AIPL1" "0000033683" "AIPL1" "0000033757" "AIPL1" "0000033758" "AIPL1" "0000033759" "AIPL1" "0000033760" "AIPL1" "0000038561" "AIPL1" "0000038561" "CRB1" "0000081137" "AIPL1" "0000096333" "AIPL1" "0000100513" "AIPL1" "0000152279" "POC5" "0000156243" "AIPL1" "0000156244" "AIPL1" "0000309544" "AIPL1" "0000309616" "AIPL1" "0000309617" "AIPL1" "0000309743" "AIPL1" "0000310085" "AIPL1" "0000310086" "AIPL1" "0000310087" "AIPL1" "0000310088" "AIPL1" "0000321197" "AIPL1" "0000326627" "AIPL1" "0000328004" "AIPL1" "0000328005" "AIPL1" "0000328006" "AIPL1" "0000328007" "AIPL1" "0000328008" "AIPL1" "0000329486" "AIPL1" "0000333594" "AIPL1" "0000333595" "AIPL1" "0000333683" "AIPL1" "0000335157" "AIPL1" "0000336634" "AIPL1" "0000336833" "AIPL1" "0000336857" "AIPL1" "0000336858" "AIPL1" "0000336859" "AIPL1" "0000360122" "AIPL1" "0000360123" "AIPL1" "0000360124" "AIPL1" "0000360125" "AIPL1" "0000364821" "AIPL1" "0000364837" "AIPL1" "0000364847" "AIPL1" "0000364905" "AIPL1" "0000365077" "AIPL1" "0000365078" "AIPL1" "0000365079" "AIPL1" "0000365080" "AIPL1" "0000365081" "AIPL1" "0000365082" "AIPL1" "0000373284" "AIPL1" "0000373285" "AIPL1" "0000373299" "AIPL1" "0000373300" "AIPL1" "0000373302" "AIPL1" "0000373650" "AIPL1" "0000373651" "AIPL1" "0000373652" "AIPL1" "0000373727" "AIPL1" "0000373728" "AIPL1" "0000373733" "AIPL1" "0000373733" "RHO" "0000374640" "AIPL1" "0000374641" "AIPL1" "0000378399" "AIPL1" "0000378400" "AIPL1" "0000378401" "AIPL1" "0000378470" "AIPL1" "0000379091" "AIPL1" "0000381011" "AIPL1" "0000381496" "AIPL1" "0000381581" "AIPL1" "0000382241" "CEP290" "0000382298" "AIPL1" "0000382363" "AIPL1" "0000382363" "RPE65" "0000382393" "AIPL1" "0000382394" "AIPL1" "0000382395" "AIPL1" "0000382396" "AIPL1" "0000382397" "AIPL1" "0000382810" "AIPL1" "0000382818" "USH2A" "0000382858" "AIPL1" "0000382908" "AIPL1" "0000383424" "AIPL1" "0000383425" "AIPL1" "0000383693" "AIPL1" "0000384991" "AIPL1" "0000385183" "RDH12" "0000385432" "AIPL1" "0000386221" "AIPL1" "0000386224" "AIPL1" "0000386225" "AIPL1" "0000386241" "AIPL1" "0000386244" "AIPL1" "0000386251" "AIPL1" "0000386276" "AIPL1" "0000386299" "AIPL1" "0000386315" "AIPL1" "0000386322" "AIPL1" "0000387403" "AIPL1" "0000387491" "AIPL1" "0000387492" "AIPL1" "0000387985" "AIPL1" "0000389981" "AIPL1" "0000390215" "AIPL1" "0000390252" "AIPL1" "0000390338" "AIPL1" "0000390751" "AIPL1" "0000390811" "AIPL1" "0000390812" "AIPL1" "0000391403" "AIPL1" "0000392589" "AIPL1" "0000392842" "AIPL1" "0000394811" "AIPL1" "0000394969" "AIPL1" "0000395038" "AIPL1" "0000407058" "AIPL1" "0000407058" "CRX" "0000407058" "GUCY2D" "0000407058" "RPE65" "0000407059" "AIPL1" "0000407059" "CRX" "0000407059" "GUCY2D" "0000407059" "RPE65" "0000407060" "AIPL1" "0000407060" "CRX" "0000407060" "GUCY2D" "0000407060" "RPE65" "0000407061" "AIPL1" "0000407061" "CRX" "0000407061" "GUCY2D" "0000407061" "RPE65" "0000407062" "AIPL1" "0000407062" "CRX" "0000407062" "GUCY2D" "0000407062" "RPE65" "0000407063" "AIPL1" "0000407063" "CRX" "0000407063" "GUCY2D" "0000407063" "RPE65" "0000407064" "AIPL1" "0000407064" "CRX" "0000407064" "GUCY2D" "0000407064" "RPE65" "0000407065" "AIPL1" "0000407065" "CRX" "0000407065" "GUCY2D" "0000407065" "RPE65" "0000407066" "AIPL1" "0000407066" "CRX" "0000407066" "GUCY2D" "0000407066" "RPE65" "0000407067" "AIPL1" "0000407067" "CRX" "0000407067" "GUCY2D" "0000407067" "RPE65" "0000407068" "AIPL1" "0000407068" "CRX" "0000407068" "GUCY2D" "0000407068" "RPE65" "0000407069" "AIPL1" "0000407069" "CRX" "0000407069" "GUCY2D" "0000407069" "RPE65" "0000407070" "AIPL1" "0000407070" "RPE65" "0000407071" "AIPL1" "0000407071" "RPE65" "0000407072" "AIPL1" "0000407073" "AIPL1" "0000407074" "AIPL1" "0000407075" "AIPL1" "0000407076" "AIPL1" "0000407077" "AIPL1" "0000407078" "AIPL1" "0000407079" "AIPL1" "0000407080" "AIPL1" "0000407081" "AIPL1" "0000407082" "AIPL1" "0000407083" "AIPL1" "0000407084" "AIPL1" "0000407085" "AIPL1" "0000407086" "AIPL1" "0000407087" "AIPL1" "0000407088" "AIPL1" "0000407089" "AIPL1" "0000407090" "AIPL1" "0000407091" "AIPL1" "0000407092" "AIPL1" "0000407093" "AIPL1" "0000407094" "AIPL1" "0000407095" "AIPL1" "0000407096" "AIPL1" "0000407097" "AIPL1" "0000407098" "AIPL1" "0000407099" "AIPL1" "0000407100" "AIPL1" "0000407101" "AIPL1" "0000407102" "AIPL1" "0000407103" "AIPL1" "0000407104" "AIPL1" "0000407105" "AIPL1" "0000407106" "AIPL1" "0000407107" "AIPL1" "0000407108" "AIPL1" "0000407109" "AIPL1" "0000407110" "AIPL1" "0000407111" "AIPL1" "0000407112" "AIPL1" "0000407113" "AIPL1" "0000407114" "AIPL1" "0000407115" "AIPL1" "0000407116" "AIPL1" "0000407117" "AIPL1" "0000407118" "AIPL1" "0000407119" "AIPL1" "0000407120" "AIPL1" "0000407121" "AIPL1" "0000407122" "AIPL1" "0000407123" "AIPL1" "0000407124" "AIPL1" "0000407125" "AIPL1" "0000407126" "AIPL1" "0000407127" "AIPL1" "0000407128" "AIPL1" "0000407129" "AIPL1" "0000407130" "AIPL1" "0000407131" "AIPL1" "0000407132" "AIPL1" "0000407133" "AIPL1" "0000407134" "AIPL1" "0000407135" "AIPL1" "0000407136" "AIPL1" "0000407137" "AIPL1" "0000407138" "AIPL1" "0000407139" "AIPL1" "0000407140" "AIPL1" "0000407141" "AIPL1" "0000407142" "AIPL1" "0000407143" "AIPL1" "0000407223" "AIPL1" "0000407224" "AIPL1" "0000407225" "AIPL1" "0000407630" "GUCY2D" "0000407637" "AIPL1" "0000407638" "AIPL1" "0000407639" "AIPL1" "0000407640" "AIPL1" "0000407641" "AIPL1" "0000407642" "AIPL1" "0000407643" "AIPL1" "0000407693" "AIPL1" "0000408472" "AIPL1" "0000408473" "AIPL1" "0000408474" "AIPL1" "0000408475" "AIPL1" "0000408476" "AIPL1" "0000408477" "AIPL1" "0000408478" "AIPL1" "0000408479" "AIPL1" "0000408480" "AIPL1" "0000408481" "AIPL1" "0000408482" "AIPL1" "0000408483" "AIPL1" "0000408484" "AIPL1" "0000408485" "AIPL1" "0000408486" "AIPL1" "0000408487" "AIPL1" "0000408488" "AIPL1" "0000428242" "AIPL1" "0000428246" "AIPL1" "0000431106" "AIPL1" "0000431119" "AIPL1" "0000431161" "AIPL1" "0000431314" "AIPL1" "0000431505" "AIPL1" ## 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 = 831 "{{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}}" "0000059104" "1" "10" "17" "6331817" "6331817" "subst" "0.0128896" "00229" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "benign" "" "0000059105" "1" "70" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Sohocki 2000:10615133}" "" "G>A (10 n of exon 3)" "SNP" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "likely pathogenic" "" "0000059106" "2" "70" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Sohocki 2000:10615133}" "" "G>A (10 n of exon 3)" "SNP" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "likely pathogenic" "" "0000059107" "1" "70" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Booij 2005:16272259}" "" "286G>A" "SNP" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "likely pathogenic" "" "0000059108" "2" "70" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Booij 2005:16272259}" "" "286G>A" "SNP" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "likely pathogenic" "" "0000059109" "1" "90" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Val96Ile" "homozygous deleterious variant" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "pathogenic" "" "0000059110" "2" "90" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Val96Ile" "homozygous deleterious variant" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "pathogenic" "" "0000059111" "1" "50" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Sohocki 2000:10873396}" "" "286G>A (GTC>ATC)" "heterozygous substitution" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "VUS" "" "0000059112" "2" "50" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Sohocki 2000:10873396}" "" "286G>A (GTC>ATC)" "heterozygous substitution" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "VUS" "" "0000059113" "1" "10" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral SNP" "Unknown" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "benign" "" "0000059114" "2" "10" "17" "6331817" "6331817" "subst" "0.0128896" "00234" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral SNP" "Unknown" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "benign" "" "0000059115" "1" "70" "17" "6329003" "6329003" "subst" "0" "00229" "AIPL1_000002" "g.6329003C>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion, disease-related variant in other gene; not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.6425683C>G" "" "likely pathogenic" "" "0000059116" "1" "70" "17" "6329003" "6329003" "subst" "0" "00229" "AIPL1_000003" "g.6329003C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion, likely disease-related variants in other gene" "Germline" "no" "" "0" "" "" "g.6425683C>A" "" "likely pathogenic" "" "0000059117" "1" "50" "17" "6328998" "6328998" "subst" "0" "00229" "AIPL1_000004" "g.6328998G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "Variant 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" "no" "" "0" "" "" "" "" "VUS" "" "0000059118" "1" "30" "17" "6338530" "6338530" "subst" "0" "00234" "AIPL1_000005" "g.6338530G>T" "" "{PMID:Tan 2012:22412862}" "" "1-106C>A IVS1-106C>A" "homozygous SNP" "Unknown" "" "" "0" "" "" "g.6435210G>T" "" "likely benign" "" "0000059119" "2" "30" "17" "6338530" "6338530" "subst" "0" "00234" "AIPL1_000005" "g.6338530G>T" "" "{PMID:Tan 2012:22412862}" "" "1-106C>A IVS1-106C>A" "homozygous SNP" "Unknown" "" "rs7211442" "0" "" "" "g.6435210G>T" "" "likely benign" "" "0000059120" "10" "70" "17" "6329025" "6329025" "subst" "4.16948E-6" "00243" "AIPL1_000006" "g.6329025C>A" "" "" "" "" "not in 228 control chromosomes" "Germline" "yes" "" "0" "" "" "g.6425705C>A" "" "likely pathogenic" "" "0000059121" "20" "70" "17" "6329025" "6329025" "subst" "4.16948E-6" "00243" "AIPL1_000006" "g.6329025C>A" "" "" "" "" "not in 228 control chromosomes" "Germline" "yes" "" "0" "" "" "g.6425705C>A" "" "likely pathogenic" "" "0000059122" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Galvin 2005:16205573}" "" "IVS2 -2A>G" "heterozygous" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "likely pathogenic" "" "0000059123" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Galvin 2005:16205573}" "" "IVS2 -2A>G" "heterozygous" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "likely pathogenic" "" "0000059124" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Jacobson 2011:20702822}" "" "IVS2–2A>G" "compound heterozygous splice site variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "likely pathogenic" "" "0000059125" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Jacobson 2011:20702822}" "" "IVS2–2A>G" "compound heterozygous splice site variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "likely pathogenic" "" "0000059126" "1" "90" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Tan 2012:22412862}" "" "" "compound heterozygous splice site variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "pathogenic" "" "0000059127" "1" "50" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Sohocki 2000:10873396}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "VUS" "" "0000059128" "2" "50" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Sohocki 2000:10873396}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "VUS" "" "0000059129" "1" "50" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous splice site variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "VUS" "" "0000059130" "2" "50" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous splice site variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "VUS" "" "0000059131" "2" "90" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Dharmaraj 2004:15249368}" "" "IVS2-2A>G" "heterozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "pathogenic" "" "0000059132" "2" "90" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Dharmaraj 2004:15249368}" "" "IVS2-2A>G" "heterozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "pathogenic" "" "0000059133" "2" "90" "17" "6331828" "6331828" "subst" "3.2624E-5" "00234" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Dharmaraj 2004:15249368}" "" "IVS2-2A>G" "heterozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "pathogenic" "" "0000059134" "10" "70" "17" "6330030" "6330030" "subst" "0" "00243" "AIPL1_000008" "g.6330030T>C" "" "" "" "" "not in 288 control chromosomes" "Germline" "yes" "" "0" "" "" "g.6426710T>C" "" "likely pathogenic" "" "0000059135" "20" "70" "17" "6330030" "6330030" "subst" "0" "00243" "AIPL1_000008" "g.6330030T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6426710T>C" "" "likely pathogenic" "" "0000059136" "10" "70" "17" "6329091" "6329091" "subst" "0" "00243" "AIPL1_000009" "g.6329091G>T" "" "" "" "" "not in 212 control chromosomes\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" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000059137" "20" "70" "17" "6329091" "6329091" "subst" "0" "00243" "AIPL1_000009" "g.6329091G>T" "" "" "" "" "not in 212 control chromosomes\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" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000059138" "10" "70" "17" "6329091" "6329091" "subst" "0" "00243" "AIPL1_000009" "g.6329091G>T" "" "" "" "" "not in 212 control chromosomes\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" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000059139" "20" "70" "17" "6329091" "6329091" "subst" "0" "00243" "AIPL1_000009" "g.6329091G>T" "" "" "" "" "not in 212 control chromosomes\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" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000059140" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059141" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059142" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Tan 2012:22412862}" "" "" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059143" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059144" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059145" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059146" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059147" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "compound heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059148" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Galvin 2005:16205573}" "" "W278X" "homozygous frameshift variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059149" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Galvin 2005:16205573}" "" "W278X" "homozygous frameshift variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059150" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059151" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059152" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059153" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059154" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059155" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059156" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059157" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059158" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059159" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059160" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059161" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059162" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059163" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059164" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059165" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059166" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059167" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059168" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059169" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059170" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059171" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059172" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059173" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059174" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059175" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059176" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059177" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059178" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "compound heterozygous frameshift" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059179" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10615133}" "" "Trp278X" "compound heterozygous frameshift" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059180" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Mckibbin 2010:20065226}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059181" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Mckibbin 2010:20065226}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059182" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Mckibbin 2010:20065226}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059183" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Mckibbin 2010:20065226}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059184" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Mckibbin 2010:20065226}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059185" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Mckibbin 2010:20065226}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059186" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Pennesi 2011:21900377}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059187" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Pennesi 2011:21900377}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059188" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059189" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059190" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059191" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059192" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G> A (TGG>TGA)" "compound heterozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059193" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G> A (TGG>TGA)" "compound heterozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059194" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "834G>A" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059195" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "834G>A" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059196" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "834G>A" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059197" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "834G>A" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059198" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "834G>A" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059199" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "834G>A" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059200" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059201" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059202" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059203" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "homozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059204" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "compound heterozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059205" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "compound heterozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059206" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "compound heterozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059207" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2000:10873396}" "" "834G>A (TGG>TGA)" "compound heterozygous" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059208" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059209" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059210" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059211" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059212" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059213" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059214" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059215" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059216" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059217" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059218" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059219" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059220" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059221" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059222" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059223" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059224" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059225" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059226" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059227" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059228" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059229" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp278X" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059230" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059231" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059232" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059233" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059234" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059235" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059236" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059237" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059238" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059239" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059240" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059241" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059242" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059243" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Trp278X" "compound heterozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059244" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zernant 2005:16123401}" "" "W278X" "homozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059245" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zernant 2005:16123401}" "" "W278X" "homozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059246" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zernant 2005:16123401}" "" "W278X" "homozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059247" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zernant 2005:16123401}" "" "W278X" "homozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059248" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zernant 2005:16123401}" "" "W278X" "homozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059249" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zernant 2005:16123401}" "" "W278X" "homozygous nonsense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059250" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059251" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059252" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059253" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059254" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059255" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059256" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059257" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059258" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059259" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059260" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059261" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059262" "1" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059263" "2" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "VUS" "" "0000059264" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059265" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Simonelli 2007:17724218}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059266" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Simonelli 2007:17724218}" "" "" "homozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059267" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Simonelli 2007:17724218}" "" "" "compound heterozygous missense variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000059268" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00234" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "heterozygous deleterious variant" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000059269" "10" "90" "17" "6330224" "6330233" "del" "0" "00243" "AIPL1_000011" "g.6330224_6330233del" "8/222" "" "" "613_622delATCATCTGCC" "" "Germline" "yes" "" "0" "" "" "g.6426904_6426913del" "" "pathogenic" "" "0000059270" "20" "90" "17" "6330224" "6330233" "del" "0" "00243" "AIPL1_000011" "g.6330224_6330233del" "8/222" "" "" "613_622delATCATCTGCC" "" "Germline" "yes" "" "0" "" "" "g.6426904_6426913del" "" "pathogenic" "" "0000059271" "1" "30" "17" "6328771" "6328771" "subst" "0" "00234" "AIPL1_000012" "g.6328771T>C" "" "{PMID:Tan 2012:22412862}" "" "1164A>G" "3\'UTR mutation" "Unknown" "" "" "0" "" "" "g.6425451T>C" "" "likely benign" "" "0000059272" "2" "30" "17" "6328771" "6328771" "subst" "0" "00234" "AIPL1_000012" "g.6328771T>C" "" "{PMID:Tan 2012:22412862}" "" "1165A>G" "3\'UTR mutation" "Unknown" "" "" "0" "" "" "g.6425451T>C" "" "likely benign" "" "0000059273" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00242" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Yücelyilmaz 2014:25148430}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000059275" "10" "90" "17" "6337268" "6337268" "subst" "4.06928E-6" "00243" "AIPL1_000014" "g.6337268C>T" "2/200" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6433948C>T" "" "pathogenic" "" "0000059276" "20" "90" "17" "6337268" "6337268" "subst" "4.06928E-6" "00243" "AIPL1_000014" "g.6337268C>T" "2/200" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6433948C>T" "" "pathogenic" "" "0000059277" "1" "70" "17" "6328821" "6328832" "dup" "0" "00234" "AIPL1_000015" "g.6328821_6328832dup" "" "{PMID:Galvin 2005:16205573}" "" "12 bp dup 1111-22" "heterozygous" "Germline" "" "" "0" "" "" "g.6425501_6425512dup" "" "likely pathogenic" "" "0000059278" "2" "70" "17" "6328821" "6328832" "dup" "0" "00234" "AIPL1_000015" "g.6328821_6328832dup" "" "{PMID:Galvin 2005:16205573}" "" "12 bp dup 1111-22" "heterozygous" "Germline" "" "" "0" "" "" "g.6425501_6425512dup" "" "likely pathogenic" "" "0000059279" "1" "30" "17" "6328825" "6328825" "subst" "0" "00234" "AIPL1_000016" "g.6328825T>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425505T>A" "" "likely benign" "" "0000059280" "2" "30" "17" "6328825" "6328825" "subst" "0" "00234" "AIPL1_000016" "g.6328825T>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425505T>A" "" "likely benign" "" "0000059281" "1" "30" "17" "6331836" "6331836" "subst" "0" "00234" "AIPL1_000017" "g.6331836T>C" "" "{PMID:Sohocki 2000:10615133}" "" "IVS2-10G/A" "SNP" "Germline" "" "rs12453262" "0" "" "" "g.6428516T>C" "" "likely benign" "" "0000059282" "1" "30" "17" "6331836" "6331836" "subst" "0" "00234" "AIPL1_000017" "g.6331836T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs12453262" "0" "" "" "g.6428516T>C" "" "likely benign" "" "0000059283" "2" "30" "17" "6331836" "6331836" "subst" "0" "00234" "AIPL1_000017" "g.6331836T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs12453262" "0" "" "" "g.6428516T>C" "" "likely benign" "" "0000059285" "1" "90" "17" "6338375" "6338375" "subst" "0" "00234" "AIPL1_000019" "g.6338375A>G" "" "{PMID:Pennesi 2011:21900377}" "" "Leu17Pro" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6435055A>G" "" "pathogenic" "" "0000059286" "1" "90" "17" "6338375" "6338375" "subst" "0" "00234" "AIPL1_000019" "g.6338375A>G" "" "{PMID:Pennesi 2011:21900377}" "" "Leu17Pro" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6435055A>G" "" "pathogenic" "" "0000059287" "2" "90" "17" "6330201" "6330201" "subst" "0" "00234" "AIPL1_000020" "g.6330201C>G" "" "{PMID:Pennesi 2011:21900377}" "" "Lys214Asn" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6426881C>G" "" "pathogenic" "" "0000059288" "2" "90" "17" "6330201" "6330201" "subst" "0" "00234" "AIPL1_000020" "g.6330201C>G" "" "{PMID:Pennesi 2011:21900377}" "" "Lys214Asn" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6426881C>G" "" "pathogenic" "" "0000059289" "1" "10" "17" "6328844" "6328844" "subst" "0" "00234" "AIPL1_000021" "g.6328844G>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425524G>C" "" "benign" "" "0000059290" "2" "10" "17" "6328844" "6328844" "subst" "0" "00234" "AIPL1_000021" "g.6328844G>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425524G>C" "" "benign" "" "0000059291" "1" "30" "17" "6328838" "6328838" "subst" "0" "00234" "AIPL1_000022" "g.6328838G>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425518G>C" "" "likely benign" "" "0000059292" "2" "30" "17" "6328838" "6328838" "subst" "0" "00234" "AIPL1_000022" "g.6328838G>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425518G>C" "" "likely benign" "" "0000059293" "1" "30" "17" "6338374" "6338374" "subst" "1.21848E-5" "00234" "AIPL1_000023" "g.6338374C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6435054C>T" "" "likely benign" "" "0000059294" "2" "30" "17" "6338374" "6338374" "subst" "1.21848E-5" "00234" "AIPL1_000023" "g.6338374C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6435054C>T" "" "likely benign" "" "0000059295" "1" "30" "17" "6328903" "6328903" "subst" "0" "00234" "AIPL1_000024" "g.6328903T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425583T>C" "" "likely benign" "" "0000059296" "2" "30" "17" "6328903" "6328903" "subst" "0" "00234" "AIPL1_000024" "g.6328903T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425583T>C" "" "likely benign" "" "0000059297" "1" "90" "17" "6337411" "6337418" "dup" "0" "00234" "AIPL1_000025" "g.6337411_6337418dup" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "96_97insGTGATCTT" "missense variant" "Germline" "" "" "0" "" "" "g.6434091_6434098dup" "" "pathogenic" "" "0000059298" "1" "90" "17" "6337411" "6337418" "dup" "0" "00234" "AIPL1_000025" "g.6337411_6337418dup" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "96_97insGTGATCTT" "missense variant" "Germline" "" "" "0" "" "" "g.6434091_6434098dup" "" "pathogenic" "" "0000059299" "2" "90" "17" "6337411" "6337418" "dup" "0" "00234" "AIPL1_000025" "g.6337411_6337418dup" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "96_97insGTGATCTT" "compound heterozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6434091_6434098dup" "" "pathogenic" "" "0000059300" "2" "90" "17" "6329149" "6329160" "del" "0" "00234" "AIPL1_000026" "g.6329149_6329160del" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "IVS5–10_786 del" "splice variant" "Germline" "" "" "0" "" "" "g.6425829_6425840del" "" "pathogenic" "" "0000059301" "2" "90" "17" "6329149" "6329160" "del" "0" "00234" "AIPL1_000026" "g.6329149_6329160del" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "IVS5–10_786 del" "splice variant" "Germline" "" "" "0" "" "" "g.6425829_6425840del" "" "pathogenic" "" "0000059302" "1" "30" "17" "6328897" "6328897" "subst" "0" "00234" "AIPL1_000027" "g.6328897T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425577T>C" "" "likely benign" "" "0000059303" "2" "30" "17" "6328897" "6328897" "subst" "0" "00234" "AIPL1_000027" "g.6328897T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425577T>C" "" "likely benign" "" "0000059304" "1" "30" "17" "6328912" "6328912" "subst" "0" "00234" "AIPL1_000028" "g.6328912C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425592C>T" "" "likely benign" "" "0000059305" "2" "30" "17" "6328912" "6328912" "subst" "0" "00234" "AIPL1_000028" "g.6328912C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425592C>T" "" "likely benign" "" "0000059306" "1" "10" "17" "6337427" "6337427" "subst" "0.00110708" "00234" "AIPL1_000029" "g.6337427C>T" "" "{PMID:Sohocki 2000:10873396}" "" "IVS1-9 G>A" "SNP" "Germline" "" "" "0" "" "" "g.6434107C>T" "" "benign" "" "0000059307" "2" "10" "17" "6337427" "6337427" "subst" "0.00110708" "00234" "AIPL1_000029" "g.6337427C>T" "" "{PMID:Sohocki 2000:10873396}" "" "IVS1-9 G>A" "SNP" "Germline" "" "" "0" "" "" "g.6434107C>T" "" "benign" "" "0000059308" "1" "30" "17" "6328964" "6328964" "subst" "0.00391951" "00234" "AIPL1_000030" "g.6328964C>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425644C>A" "" "likely benign" "" "0000059309" "2" "30" "17" "6328964" "6328964" "subst" "0.00391951" "00234" "AIPL1_000030" "g.6328964C>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425644C>A" "" "likely benign" "" "0000059310" "1" "30" "17" "6337434" "6337434" "subst" "0" "00234" "AIPL1_000031" "g.6337434G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "" "0" "" "" "g.6434114G>A" "" "likely benign" "" "0000059311" "2" "30" "17" "6337434" "6337434" "subst" "0" "00234" "AIPL1_000031" "g.6337434G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "" "0" "" "" "g.6434114G>A" "" "likely benign" "" "0000059312" "1" "30" "17" "6328930" "6328930" "subst" "0" "00234" "AIPL1_000032" "g.6328930G>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425610G>T" "" "likely benign" "" "0000059313" "2" "30" "17" "6328930" "6328930" "subst" "0" "00234" "AIPL1_000032" "g.6328930G>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425610G>T" "" "likely benign" "" "0000059314" "1" "10" "17" "6337404" "6337404" "subst" "0.0209874" "00234" "AIPL1_000033" "g.6337404G>A" "" "{PMID:Sohocki 2000:10873396}" "" "TTT>TTC" "polymorphisms silent substitution" "Germline" "" "rs11650007" "0" "" "" "g.6434084G>A" "" "benign" "" "0000059315" "2" "10" "17" "6337404" "6337404" "subst" "0.0209874" "00234" "AIPL1_000033" "g.6337404G>A" "" "{PMID:Sohocki 2000:10873396}" "" "TTT>TTC" "polymorphisms silent substitution" "Germline" "" "rs11650007" "0" "" "" "g.6434084G>A" "" "benign" "" "0000059316" "1" "30" "17" "6337404" "6337404" "subst" "0.0209874" "00234" "AIPL1_000033" "g.6337404G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs11650007" "0" "" "" "g.6434084G>A" "" "likely benign" "" "0000059317" "2" "30" "17" "6337404" "6337404" "subst" "0.0209874" "00234" "AIPL1_000033" "g.6337404G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs11650007" "0" "" "" "g.6434084G>A" "" "likely benign" "" "0000059318" "1" "90" "17" "6329030" "6329030" "subst" "1.25187E-5" "00234" "AIPL1_000034" "g.6329030C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Arg302Lys" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6425710C>T" "" "pathogenic" "" "0000059319" "2" "90" "17" "6329030" "6329030" "subst" "1.25187E-5" "00234" "AIPL1_000034" "g.6329030C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Arg302Lys" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6425710C>T" "" "pathogenic" "" "0000059320" "1" "70" "17" "6337404" "6337404" "del" "0" "00234" "AIPL1_000035" "g.6337404del" "" "{PMID:Vallespin 2007 :18055816}" "" "111delC" "homozygous frameshift variant" "Germline" "" "" "0" "" "" "g.6434084del" "" "likely pathogenic" "" "0000059321" "2" "70" "17" "6337404" "6337404" "del" "0" "00234" "AIPL1_000035" "g.6337404del" "" "{PMID:Vallespin 2007 :18055816}" "" "111delC" "homozygous frameshift variant" "Germline" "" "" "0" "" "" "g.6434084del" "" "likely pathogenic" "" "0000059322" "1" "70" "17" "6337404" "6337404" "del" "0" "00234" "AIPL1_000035" "g.6337404del" "" "{PMID:Vallespin 2007 :18055816}" "" "111delC" "homozygous frameshift variant" "Germline" "" "" "0" "" "" "g.6434084del" "" "likely pathogenic" "" "0000059323" "2" "70" "17" "6337404" "6337404" "del" "0" "00234" "AIPL1_000035" "g.6337404del" "" "{PMID:Vallespin 2007 :18055816}" "" "111delC" "homozygous frameshift variant" "Germline" "" "" "0" "" "" "g.6434084del" "" "likely pathogenic" "" "0000059324" "11" "90" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "Arg302Lys" "homozygous missense variant" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "pathogenic" "" "0000059325" "21" "90" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "Arg302Lys" "homozygous missense variant" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "pathogenic" "" "0000059326" "11" "90" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "Arg302Lys" "homozygous missense variant" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "pathogenic" "" "0000059327" "21" "90" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "Arg302Lys" "homozygous missense variant" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "pathogenic" "" "0000059328" "11" "90" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "Arg302Lys" "homozygous missense variant" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "pathogenic" "" "0000059329" "21" "90" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "Arg302Lys" "homozygous missense variant" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "pathogenic" "" "0000059330" "1" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Sohocki 2000:10873396}" "" "905G>T (GCG>CTC)" "homozygous" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000059331" "2" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Sohocki 2000:10873396}" "" "905G>T (GCG>CTC)" "homozygous" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000059332" "1" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Sohocki 2000:10873396}" "" "905G>T (GCG>CTC)" "homozygous" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000059333" "2" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Sohocki 2000:10873396}" "" "905G>T (GCG>CTC)" "homozygous" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000059334" "1" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Sohocki 2000:10873396}" "" "905G>T (GCG>CTC)" "homozygous" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000059335" "2" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Sohocki 2000:10873396}" "" "905G>T (GCG>CTC)" "homozygous" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000059336" "1" "30" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000059337" "2" "30" "17" "6329030" "6329030" "subst" "0.00259137" "00234" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000059338" "2" "70" "17" "6329999" "6330001" "del" "0" "00234" "AIPL1_000037" "g.6329999_6330001del" "" "{PMID:Jacobson 2011:20702822}" "" "Leu241del" "compound heterozygous base deletion mutation" "Germline" "" "" "0" "" "" "g.6426679_6426681del" "" "likely pathogenic" "" "0000059339" "1" "70" "17" "6329999" "6330001" "del" "0" "00234" "AIPL1_000037" "g.6329999_6330001del" "" "{PMID:Jacobson 2011:20702822}" "" "Leu241del" "compound heterozygous base deletion mutation" "Germline" "" "" "0" "" "" "g.6426679_6426681del" "" "likely pathogenic" "" "0000059340" "1" "70" "17" "6331739" "6331739" "subst" "4.0713E-6" "00234" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Jacobson 2011:20702822}" "" "" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6428419C>G" "" "likely pathogenic" "" "0000059341" "2" "70" "17" "6328926" "6328927" "del" "0" "00234" "AIPL1_000039" "g.6328926_6328927del" "" "{PMID:Sohocki 2000:10615133}" "" "Ala336del2bp" "compound heterozygous frameshift" "Germline" "" "" "0" "" "" "g.6425606_6425607del" "" "likely pathogenic" "" "0000059342" "2" "70" "17" "6328926" "6328927" "del" "0" "00234" "AIPL1_000039" "g.6328926_6328927del" "" "{PMID:Sohocki 2000:10615133}" "" "Ala336del2bp" "compound heterozygous frameshift" "Germline" "" "" "0" "" "" "g.6425606_6425607del" "" "likely pathogenic" "" "0000059343" "2" "70" "17" "6329126" "6329126" "subst" "0" "00234" "AIPL1_000040" "g.6329126C>T" "" "{PMID:Simonelli 2007:17724218}" "" "" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6425806C>T" "" "likely pathogenic" "" "0000059344" "2" "90" "17" "6329126" "6329126" "subst" "0" "00234" "AIPL1_000040" "g.6329126C>T" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "" "heterozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6425806C>T" "" "pathogenic" "" "0000059345" "11" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059346" "21" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059347" "11" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059348" "21" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059349" "11" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059350" "21" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059351" "11" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059352" "21" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059353" "11" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059354" "21" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059355" "11" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059356" "21" "90" "17" "6337399" "6337399" "subst" "0" "00234" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2002:12573663}" "" "C>A 116" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6434079G>T" "" "pathogenic" "" "0000059357" "1" "30" "17" "6329041" "6329041" "subst" "0" "00234" "AIPL1_000042" "g.6329041C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425721C>G" "" "likely benign" "" "0000059358" "2" "30" "17" "6329041" "6329041" "subst" "0" "00234" "AIPL1_000042" "g.6329041C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6425721C>G" "" "likely benign" "" "0000059359" "1" "30" "17" "6330168" "6330168" "subst" "7.73603E-5" "00234" "AIPL1_000043" "g.6330168G>A" "" "{PMID:Tan 2012:22412862}" "" "642-33C>T" "homozygous SNP" "Unknown" "" "rs2292545" "0" "" "" "g.6426848G>A" "" "likely benign" "" "0000059360" "2" "30" "17" "6330168" "6330168" "subst" "7.73603E-5" "00234" "AIPL1_000043" "g.6330168G>A" "" "{PMID:Tan 2012:22412862}" "" "643-33C>T" "homozygous SNP" "Unknown" "" "rs2292545" "0" "" "" "g.6426848G>A" "" "likely benign" "" "0000059361" "1" "10" "17" "6330068" "6330068" "subst" "0.72822" "00234" "AIPL1_000044" "g.6330068T>C" "" "{PMID:Sohocki 2000:10873396}" "" "CCG>CCA (Pro217Pro)" "polymorphisms silent substitution" "Germline" "" "rs2292546" "0" "" "" "g.6426748T>C" "" "benign" "" "0000059362" "2" "10" "17" "6330068" "6330068" "subst" "0.72822" "00234" "AIPL1_000044" "g.6330068T>C" "" "{PMID:Sohocki 2000:10873396}" "" "CCG>CCA (Pro217Pro)" "polymorphisms silent substitution" "Germline" "" "rs2292546" "0" "" "" "g.6426748T>C" "" "benign" "" "0000059363" "1" "30" "17" "6330068" "6330068" "subst" "0.72822" "00234" "AIPL1_000044" "g.6330068T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs2292546" "0" "" "" "g.6426748T>C" "" "likely benign" "" "0000059364" "2" "30" "17" "6330068" "6330068" "subst" "0.72822" "00234" "AIPL1_000044" "g.6330068T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs2292546" "0" "" "" "g.6426748T>C" "" "likely benign" "" "0000059365" "1" "30" "17" "6330041" "6330041" "subst" "0" "00234" "AIPL1_000045" "g.6330041C>T" "" "{PMID:Tan 2012:22412862}" "" "678G>A (Glu226Glu" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426721C>T" "" "likely benign" "" "0000059366" "2" "30" "17" "6330041" "6330041" "subst" "0" "00234" "AIPL1_000045" "g.6330041C>T" "" "{PMID:Tan 2012:22412862}" "" "678G>A (Glu226Glu" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426721C>T" "" "likely benign" "" "0000059367" "1" "90" "17" "6330004" "6330004" "subst" "0" "00234" "AIPL1_000046" "g.6330004A>G" "" "{PMID:Dharmaraj 2004:15249368}" "" "Cys239Arg" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6426684A>G" "" "pathogenic" "" "0000059368" "2" "90" "17" "6330004" "6330004" "subst" "0" "00234" "AIPL1_000046" "g.6330004A>G" "" "{PMID:Dharmaraj 2004:15249368}" "" "Cys239Arg" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6426684A>G" "" "pathogenic" "" "0000059369" "1" "10" "17" "6329954" "6329954" "subst" "0.00163363" "00234" "AIPL1_000047" "g.6329954A>G" "" "{PMID:Sohocki 2000:10873396}" "" "GAT>GAC (D255D)" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6426634A>G" "" "benign" "" "0000059370" "2" "10" "17" "6329954" "6329954" "subst" "0.00163363" "00234" "AIPL1_000047" "g.6329954A>G" "" "{PMID:Sohocki 2000:10873396}" "" "GAT>GAC (D255D)" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6426634A>G" "" "benign" "" "0000059371" "1" "30" "17" "6329927" "6329927" "subst" "0" "00234" "AIPL1_000048" "g.6329927C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "" "0" "" "" "g.6426607C>G" "" "likely benign" "" "0000059372" "2" "30" "17" "6329927" "6329927" "subst" "0" "00234" "AIPL1_000048" "g.6329927C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "" "0" "" "" "g.6426607C>G" "" "likely benign" "" "0000059373" "1" "30" "17" "6329917" "6329917" "subst" "0.0333292" "00234" "AIPL1_000049" "g.6329917C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "rs7222126" "0" "" "" "g.6426597C>T" "" "likely benign" "" "0000059374" "2" "30" "17" "6329917" "6329917" "subst" "0.0333292" "00234" "AIPL1_000049" "g.6329917C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "rs7222126" "0" "" "" "g.6426597C>T" "" "likely benign" "" "0000059375" "1" "10" "17" "6329917" "6329917" "subst" "0.0333292" "00234" "AIPL1_000049" "g.6329917C>T" "" "{PMID:Sohocki 2000:10873396}" "" "IVS5+18 G>A" "SNP" "Germline" "" "rs7222126" "0" "" "" "g.6426597C>T" "" "benign" "" "0000059376" "2" "10" "17" "6329917" "6329917" "subst" "0.0333292" "00234" "AIPL1_000049" "g.6329917C>T" "" "{PMID:Sohocki 2000:10873396}" "" "IVS5+18 G>A" "SNP" "Germline" "" "rs7222126" "0" "" "" "g.6426597C>T" "" "benign" "" "0000059377" "1" "30" "17" "6329909" "6329909" "subst" "0" "00234" "AIPL1_000050" "g.6329909C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "" "0" "" "" "g.6426589C>G" "" "likely benign" "" "0000059378" "2" "30" "17" "6329909" "6329909" "subst" "0" "00234" "AIPL1_000050" "g.6329909C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous splice site variant" "Unknown" "" "" "0" "" "" "g.6426589C>G" "" "likely benign" "" "0000059379" "1" "90" "17" "6337389" "6337389" "subst" "0" "00234" "AIPL1_000051" "g.6337389A>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Cys42X" "heterozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6434069A>T" "" "pathogenic" "" "0000059380" "1" "30" "17" "6330153" "6330153" "subst" "0.362934" "00234" "AIPL1_000052" "g.6330153C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs925616" "0" "" "" "g.6426833C>T" "" "likely benign" "" "0000059381" "2" "30" "17" "6330153" "6330153" "subst" "0.362934" "00234" "AIPL1_000052" "g.6330153C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs925616" "0" "" "" "g.6426833C>T" "" "likely benign" "" "0000059382" "1" "90" "17" "6337325" "6337325" "subst" "1.21921E-5" "00234" "AIPL1_000053" "g.6337325C>T" "" "{PMID:Tan 2012:22412862}" "" "" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6434005C>T" "" "pathogenic" "" "0000059383" "1" "30" "17" "6330250" "6330250" "subst" "0" "00234" "AIPL1_000054" "g.6330250G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426930G>A" "" "likely benign" "" "0000059384" "2" "30" "17" "6330250" "6330250" "subst" "0" "00234" "AIPL1_000054" "g.6330250G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426930G>A" "" "likely benign" "" "0000059385" "1" "50" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "VUS" "" "0000059386" "2" "50" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "VUS" "" "0000059387" "1" "70" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Jacobson 2011:20702822}" "" "Val71Phe" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "likely pathogenic" "" "0000059388" "1" "50" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "VUS" "" "0000059389" "2" "50" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "VUS" "" "0000059390" "1" "70" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Jacobson 2011:20702822}" "" "Val71Phe" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "likely pathogenic" "" "0000059391" "2" "70" "17" "6337304" "6337304" "subst" "4.06464E-6" "00234" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Jacobson 2011:20702822}" "" "Val71Phe" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "likely pathogenic" "" "0000059392" "1" "30" "17" "6330202" "6330202" "subst" "0" "00234" "AIPL1_000056" "g.6330202T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral missense variant" "Unknown" "" "" "0" "" "" "g.6426882T>C" "" "likely benign" "" "0000059393" "2" "30" "17" "6330202" "6330202" "subst" "0" "00234" "AIPL1_000056" "g.6330202T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral missense variant" "Unknown" "" "" "0" "" "" "g.6426882T>C" "" "likely benign" "" "0000059394" "1" "10" "17" "6330251" "6330251" "subst" "0" "00234" "AIPL1_000057" "g.6330251A>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral missense variant" "Unknown" "" "" "0" "" "" "g.6426931A>T" "" "benign" "" "0000059395" "2" "10" "17" "6330251" "6330251" "subst" "0" "00234" "AIPL1_000057" "g.6330251A>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426931A>T" "" "benign" "" "0000059396" "2" "70" "17" "6337299" "6337299" "subst" "0" "00234" "AIPL1_000058" "g.6337299C>T" "" "{PMID:Jacobson 2011:20702822}" "" "" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6433979C>T" "" "likely pathogenic" "" "0000059397" "1" "30" "17" "6330288" "6330288" "subst" "0" "00234" "AIPL1_000059" "g.6330288T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426968T>C" "" "likely benign" "" "0000059398" "2" "30" "17" "6330288" "6330288" "subst" "0" "00234" "AIPL1_000059" "g.6330288T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6426968T>C" "" "likely benign" "" "0000059399" "1" "90" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Dharmaraj 2004:15249368}" "" "Ala197Pro" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "pathogenic" "" "0000059400" "2" "90" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Dharmaraj 2004:15249368}" "" "Ala197Pro" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "pathogenic" "" "0000059401" "1" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059402" "2" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059403" "1" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059404" "2" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Hanein 2004:15024725}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059405" "1" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059406" "2" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059407" "1" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059408" "2" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059409" "1" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059410" "2" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059411" "1" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059412" "2" "50" "17" "6330254" "6330254" "subst" "0" "00234" "AIPL1_000060" "g.6330254C>G" "" "{PMID:Sohocki 2000:10873396}" "" "589G>C (GCC>CCC)" "homozygous" "Germline" "" "" "0" "" "" "g.6426934C>G" "" "VUS" "" "0000059413" "1" "70" "17" "6337301" "6337301" "subst" "0" "00234" "AIPL1_000061" "g.6337301A>G" "" "{PMID:Jacobson 2011:20702822}" "" "Trp72Arg" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6433981A>G" "" "likely pathogenic" "" "0000059414" "2" "70" "17" "6337250" "6337250" "subst" "0" "00234" "AIPL1_000062" "g.6337250A>G" "" "{PMID:Jacobson 2011:20702822}" "" "Cys89Arg" "compound heterozygous missense variant" "Germline" "" "" "0" "" "" "g.6433930A>G" "" "likely pathogenic" "" "0000059415" "1" "30" "17" "6330347" "6330347" "subst" "0" "00234" "AIPL1_000063" "g.6330347T>A" "" "{PMID:Tan 2012:22412862}" "" "Tyr134Phe" "homozygous SNP" "Unknown" "" "rs16955851" "0" "" "" "g.6427027T>A" "" "likely benign" "" "0000059416" "2" "30" "17" "6330347" "6330347" "subst" "0" "00234" "AIPL1_000063" "g.6330347T>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs16955851" "0" "" "" "g.6427027T>A" "" "likely benign" "" "0000059417" "1" "10" "17" "6330327" "6330327" "subst" "0.00234303" "00234" "AIPL1_000064" "g.6330327A>G" "" "{PMID:Sohocki 2000:10873396}" "" "CAT> CAC (His172His)" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6427007A>G" "" "benign" "" "0000059418" "2" "10" "17" "6330327" "6330327" "subst" "0.00234303" "00234" "AIPL1_000064" "g.6330327A>G" "" "{PMID:Sohocki 2000:10873396}" "" "CAT> CAC (His172His)" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6427007A>G" "" "benign" "" "0000059419" "1" "10" "17" "6337281" "6337281" "subst" "0.000284578" "00234" "AIPL1_000065" "g.6337281G>A" "" "{PMID:Sohocki 2000:10873396}" "" "TCC>TCT" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6433961G>A" "" "benign" "" "0000059420" "2" "10" "17" "6337281" "6337281" "subst" "0.000284578" "00234" "AIPL1_000065" "g.6337281G>A" "" "{PMID:Sohocki 2000:10873396}" "" "TCC>TCT" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6433961G>A" "" "benign" "" "0000059421" "1" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059422" "2" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059423" "1" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Gln163X" "homozygous deleterious variant" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059424" "2" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Gln163X" "homozygous deleterious variant" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059425" "11" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Zernant 2005:16123401}" "" "Q163X" "homozygous nonsense variant" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059426" "21" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Zernant 2005:16123401}" "" "Q163X" "homozygous nonsense variant" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059427" "11" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Zernant 2005:16123401}" "" "Q163X" "homozygous nonsense variant" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059428" "21" "90" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Zernant 2005:16123401}" "" "Q163X" "homozygous nonsense variant" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "pathogenic" "" "0000059429" "1" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059430" "2" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059431" "1" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059432" "2" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059433" "1" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059434" "2" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059435" "1" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059436" "2" "50" "17" "6330356" "6330356" "subst" "0" "00234" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Sohocki 2000:10873396}" "" "487C>T (CAG>TAG)" "homozygous" "Germline" "" "rs62637009" "0" "" "" "g.6427036G>A" "" "VUS" "" "0000059437" "1" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Galvin 2005:16205573}" "" "M79T" "compound heterozygous" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059438" "2" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Galvin 2005:16205573}" "" "M79T" "compound heterozygous" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059439" "1" "90" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Dharmaraj 2004:15249368}" "" "Met79Thr" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "pathogenic" "" "0000059440" "2" "90" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Dharmaraj 2004:15249368}" "" "Met79Thr" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "pathogenic" "" "0000059441" "1" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Sohocki 2000:10873396}" "" "236T>C (ATG > ACG)" "homozygous substitution" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059442" "2" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Sohocki 2000:10873396}" "" "236T>C (ATG > ACG)" "homozygous substitution" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059443" "1" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Sohocki 2000:10873396}" "" "236T>C (ATG > ACG)" "homozygous substitution" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059444" "2" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Sohocki 2000:10873396}" "" "236T>C (ATG > ACG)" "homozygous substitution" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059445" "1" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Sohocki 2000:10873396}" "" "236T>C (ATG > ACG)" "homozygous substitution" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059446" "2" "50" "17" "6337279" "6337279" "subst" "0" "00234" "AIPL1_000067" "g.6337279A>G" "" "{PMID:Sohocki 2000:10873396}" "" "236T>C (ATG > ACG)" "homozygous substitution" "Germline" "" "" "0" "" "" "g.6433959A>G" "" "VUS" "" "0000059447" "1" "10" "17" "6331803" "6331803" "subst" "0.6435" "00234" "AIPL1_000068" "g.6331803T>C" "" "{PMID:Sohocki 2000:10873396}" "" "CTG>CTA (L100L)" "polymorphisms silent substitution" "Germline" "" "rs8075035" "0" "" "" "g.6428483T>C" "" "benign" "" "0000059448" "2" "10" "17" "6331803" "6331803" "subst" "0.6435" "00234" "AIPL1_000068" "g.6331803T>C" "" "{PMID:Sohocki 2000:10873396}" "" "CTG>CTA (L100L)" "polymorphisms silent substitution" "Germline" "" "rs8075035" "0" "" "" "g.6428483T>C" "" "benign" "" "0000059449" "1" "70" "17" "6331803" "6331803" "subst" "0.6435" "00234" "AIPL1_000068" "g.6331803T>C" "" "{PMID:Sohocki 2000:10615133}" "" "300G>A (CTG/CTA)" "SNP" "Germline" "" "rs8075035" "0" "" "" "g.6428483T>C" "" "likely pathogenic" "" "0000059450" "2" "70" "17" "6331803" "6331803" "subst" "0.6435" "00234" "AIPL1_000068" "g.6331803T>C" "" "{PMID:Sohocki 2000:10615133}" "" "300G>A (CTG/CTA)" "SNP" "Germline" "" "rs8075035" "0" "" "" "g.6428483T>C" "" "likely pathogenic" "" "0000059451" "1" "30" "17" "6331803" "6331803" "subst" "0.6435" "00234" "AIPL1_000068" "g.6331803T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs8075035" "0" "" "" "g.6428483T>C" "" "likely benign" "" "0000059452" "2" "30" "17" "6331803" "6331803" "subst" "0.6435" "00234" "AIPL1_000068" "g.6331803T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs8075035" "0" "" "" "g.6428483T>C" "" "likely benign" "" "0000059453" "2" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00234" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Pro376Ser" "heterozygous deleterious variant" "Germline" "" "rs61757484" "0" "" "" "g.6425489G>A" "" "pathogenic" "" "0000059454" "2" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00234" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Pro376Ser" "heterozygous deleterious variant" "Germline" "" "rs61757484" "0" "" "" "g.6425489G>A" "" "pathogenic" "" "0000059455" "1" "30" "17" "6328809" "6328809" "subst" "0.00455374" "00234" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs61757484" "0" "" "" "g.6425489G>A" "" "likely benign" "" "0000059456" "2" "30" "17" "6328809" "6328809" "subst" "0.00455374" "00234" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs61757484" "0" "" "" "g.6425489G>A" "" "likely benign" "" "0000059457" "1" "50" "17" "6328809" "6328809" "subst" "0.00455374" "00234" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sohocki 2000:10873396}" "" "1126C>T (CCG>TCG)" "compound heterozygous" "Germline" "" "rs61757484" "0" "" "" "g.6425489G>A" "" "VUS" "" "0000059458" "2" "50" "17" "6328809" "6328809" "subst" "0.00455374" "00234" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sohocki 2000:10873396}" "" "1126C>T (CCG>TCG)" "compound heterozygous" "Germline" "" "rs61757484" "0" "" "" "g.6425489G>A" "" "VUS" "" "0000059459" "1" "90" "17" "6331739" "6331739" "delins" "0" "00234" "AIPL1_000070" "g.6331739delinsTT" "" "{PMID:Testa 2011:21474771}" "NotI-HindIII" "364G>AA (Gly122fs)" "AminoAcidchange due to change of different nucleotide" "Germline" "" "" "0" "" "" "g.6428419delinsTT" "" "pathogenic" "" "0000059460" "1" "10" "17" "6331713" "6331713" "subst" "0" "00234" "AIPL1_000071" "g.6331713G>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6428393G>T" "" "benign" "" "0000059461" "2" "10" "17" "6331713" "6331713" "subst" "0" "00234" "AIPL1_000071" "g.6331713G>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6428393G>T" "" "benign" "" "0000059462" "2" "90" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000071" "g.6331702T>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Tyr134Phe" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6428382T>A" "" "pathogenic" "" "0000059463" "2" "30" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000071" "g.6331702T>A" "0.01" "{PMID:Vallespin 2007 :18055816}" "" "Tyr134Phe" "SNP" "Unknown" "" "" "0" "" "" "g.6428382T>A" "" "likely benign" "" "0000059464" "2" "30" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000071" "g.6331702T>A" "0.01" "{PMID:Vallespin 2007 :18055816}" "" "Tyr134Phe" "SNP" "Unknown" "" "" "0" "" "" "g.6428382T>A" "" "likely benign" "" "0000059465" "2" "30" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000071" "g.6331702T>A" "0.01" "{PMID:Vallespin 2007 :18055816}" "" "Tyr134Phe" "SNP" "Unknown" "" "" "0" "" "" "g.6428382T>A" "" "likely benign" "" "0000059466" "1" "90" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000072" "g.6331702T>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Tyr134Phe" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6428382T>A" "" "pathogenic" "" "0000059467" "1" "30" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000072" "g.6331702T>A" "0.01" "{PMID:Vallespin 2007 :18055816}" "" "Tyr134Phe" "SNP" "Unknown" "" "" "0" "" "" "g.6428382T>A" "" "likely benign" "" "0000059468" "1" "30" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000072" "g.6331702T>A" "0.01" "{PMID:Vallespin 2007 :18055816}" "" "Tyr134Phe" "SNP" "Unknown" "" "" "0" "" "" "g.6428382T>A" "" "likely benign" "" "0000059469" "1" "30" "17" "6331702" "6331702" "subst" "0.00403492" "00234" "AIPL1_000072" "g.6331702T>A" "0.01" "{PMID:Vallespin 2007 :18055816}" "" "Tyr134Phe" "SNP" "Unknown" "" "" "0" "" "" "g.6428382T>A" "" "likely benign" "" "0000059470" "1" "30" "17" "6331664" "6331664" "subst" "0" "00234" "AIPL1_000072" "g.6331664G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "" "0" "" "" "g.6428344G>A" "" "likely benign" "" "0000059471" "2" "30" "17" "6331664" "6331664" "subst" "0" "00234" "AIPL1_000072" "g.6331664G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "" "0" "" "" "g.6428344G>A" "" "likely benign" "" "0000059474" "1" "10" "17" "6330402" "6330402" "subst" "0" "00234" "AIPL1_000074" "g.6330402A>G" "" "{PMID:Sohocki 2000:10873396}" "" "IVS3+25 T>C" "SNP\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" "" "" "" "" "benign" "" "0000059476" "1" "70" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Galvin 2005:16205573}" "" "Thr114Ile" "heterozygous missense variant" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "likely pathogenic" "" "0000059477" "2" "70" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Galvin 2005:16205573}" "" "Thr114Ile" "heterozygous missense variant" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "likely pathogenic" "" "0000059478" "1" "70" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Galvin 2005:16205573}" "" "T114I" "heterozygous" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "likely pathogenic" "" "0000059479" "2" "70" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Galvin 2005:16205573}" "" "T114I" "heterozygous" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "likely pathogenic" "" "0000059480" "1" "30" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "likely benign" "" "0000059481" "2" "30" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "likely benign" "" "0000059482" "1" "50" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Sohocki 2000:10873396}" "" "341C> T (ACA>ATA)" "compound heterozygous" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "VUS" "" "0000059483" "2" "50" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Sohocki 2000:10873396}" "" "341C> T (ACA>ATA)" "compound heterozygous" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "VUS" "" "0000059484" "1" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Thr114Ile" "heterozygous deleterious variant" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "pathogenic" "" "0000059485" "1" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00234" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Dharmaraj 2004:15249368}" "" "Thr114Ile" "heterozygous deleterious variant" "Germline" "" "rs8069375" "0" "" "" "g.6428442G>A" "" "pathogenic" "" "0000059486" "2" "10" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Tan 2012:22412862}" "" "" "compound heterozygous neutral variant" "Unknown" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "benign" "" "0000059487" "1" "50" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Sohocki 2000:10873396}" "" "784G>A (GGC>AGC)" "compound heterozygous" "Germline" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "VUS" "" "0000059488" "2" "50" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Sohocki 2000:10873396}" "" "784G>A (GGC>AGC)" "compound heterozygous" "Germline" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "VUS" "" "0000059489" "2" "90" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "G262S" "heterozygous deleterious variant" "Germline" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "pathogenic" "" "0000059490" "1" "90" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Gly262Ser" "heterozygous deleterious variant" "Germline" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "pathogenic" "" "0000059491" "1" "70" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Gly262Ser" "compound heterozygous missense variant" "Germline" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "likely pathogenic" "" "0000059492" "1" "70" "17" "6329935" "6329935" "subst" "2.84986E-5" "00234" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Jacobson 2011:20702822}" "" "Gly262Ser" "compound heterozygous missense variant" "Germline" "" "rs62637013" "0" "" "" "g.6426615C>T" "" "likely pathogenic" "" "0000059493" "1" "70" "17" "6337271" "6337271" "subst" "0.00169594" "00234" "AIPL1_000077" "g.6337271G>A" "" "{PMID:HeegaarD2003:12881340}" "" "244C>T" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433951G>A" "" "likely pathogenic" "" "0000059494" "2" "70" "17" "6337271" "6337271" "subst" "0.00169594" "00234" "AIPL1_000077" "g.6337271G>A" "" "{PMID:HeegaarD2003:12881340}" "" "244C>T" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433951G>A" "" "likely pathogenic" "" "0000059495" "1" "70" "17" "6337271" "6337271" "subst" "0.00169594" "00234" "AIPL1_000077" "g.6337271G>A" "" "{PMID:HeegaarD2003:12881340}" "" "244C>T" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433951G>A" "" "likely pathogenic" "" "0000059496" "2" "70" "17" "6337271" "6337271" "subst" "0.00169594" "00234" "AIPL1_000077" "g.6337271G>A" "" "{PMID:HeegaarD2003:12881340}" "" "244C>T" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433951G>A" "" "likely pathogenic" "" "0000059497" "1" "10" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Sohocki 2000:10873396}" "" "Asp90His" "polymorphisms silent substitution" "Germline" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "benign" "" "0000059498" "2" "10" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Sohocki 2000:10873396}" "" "Asp90His" "polymorphisms silent substitution" "Germline" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "benign" "" "0000059499" "1" "10" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral SNP" "Unknown" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "benign" "" "0000059500" "2" "10" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral SNP" "Unknown" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "benign" "" "0000059501" "1" "10" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral SNP" "Unknown" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "benign" "" "0000059502" "2" "10" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous neutral SNP" "Unknown" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "benign" "" "0000059503" "1" "70" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:HeegaarD2003:12881340}" "" "286G>C" "SNP" "Germline" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "likely pathogenic" "" "0000059504" "2" "70" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:HeegaarD2003:12881340}" "" "286G>C" "SNP" "Germline" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "likely pathogenic" "" "0000059505" "1" "70" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:HeegaarD2003:12881340}" "" "286G>C" "SNP" "Germline" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "likely pathogenic" "" "0000059506" "2" "70" "17" "6337247" "6337247" "subst" "0.208804" "00234" "AIPL1_000078" "g.6337247C>G" "" "{PMID:HeegaarD2003:12881340}" "" "286G>C" "SNP" "Germline" "" "rs12449580" "0" "" "" "g.6433927C>G" "" "likely pathogenic" "" "0000059507" "1" "10" "17" "6337173" "6337173" "subst" "0" "00234" "AIPL1_000079" "g.6337173C>G" "" "{PMID:Sohocki 2000:10873396}" "" "IVS2+66 G>C" "SNP" "Germline" "" "" "0" "" "" "g.6433853C>G" "" "benign" "" "0000059508" "2" "10" "17" "6337173" "6337173" "subst" "0" "00234" "AIPL1_000079" "g.6337173C>G" "" "{PMID:Sohocki 2000:10873396}" "" "IVS2+66 G>C" "SNP" "Germline" "" "" "0" "" "" "g.6433853C>G" "" "benign" "" "0000059509" "1" "10" "17" "6331914" "6331914" "subst" "0" "00234" "AIPL1_000080" "g.6331914G>A" "" "{PMID:Sohocki 2000:10873396}" "" "IVS2+88 C>T (277+88C>T)" "SNP" "Germline" "" "" "0" "" "" "g.6428594G>A" "" "benign" "" "0000059510" "2" "10" "17" "6331914" "6331914" "subst" "0" "00234" "AIPL1_000080" "g.6331914G>A" "" "{PMID:Sohocki 2000:10873396}" "" "IVS2+88 C>T (277+88C>T)" "SNP" "Germline" "" "" "0" "" "" "g.6428594G>A" "" "benign" "" "0000059511" "1" "90" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "pathogenic" "" "0000059512" "2" "90" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "pathogenic" "" "0000059513" "1" "90" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "pathogenic" "" "0000059514" "2" "90" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "pathogenic" "" "0000059515" "1" "50" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Sohocki 2000:10873396}" "" "264G> A (TGG>TGA)" "homozygous" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "VUS" "" "0000059516" "2" "50" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Sohocki 2000:10873396}" "" "264G> A (TGG>TGA)" "homozygous" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "VUS" "" "0000059517" "1" "90" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp88X" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "pathogenic" "" "0000059518" "2" "90" "17" "6337251" "6337251" "subst" "0" "00234" "AIPL1_000081" "g.6337251C>T" "" "{PMID:Dharmaraj 2004:15249368}" "" "Trp88X" "homozygous deleterious variant" "Germline" "" "" "0" "" "" "g.6433931C>T" "" "pathogenic" "" "0000059519" "1" "30" "17" "6337248" "6337248" "subst" "0.00419633" "00234" "AIPL1_000082" "g.6337248G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6433928G>A" "" "likely benign" "" "0000059520" "2" "30" "17" "6337248" "6337248" "subst" "0.00419633" "00234" "AIPL1_000082" "g.6337248G>A" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6433928G>A" "" "likely benign" "" "0000059521" "1" "10" "17" "6337248" "6337248" "subst" "0.00419633" "00234" "AIPL1_000082" "g.6337248G>A" "" "{PMID:Sohocki 2000:10873396}" "" "287C>T TGC>TGT (C89C)" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6433928G>A" "" "benign" "" "0000059522" "2" "10" "17" "6337248" "6337248" "subst" "0.00419633" "00234" "AIPL1_000082" "g.6337248G>A" "" "{PMID:Sohocki 2000:10873396}" "" "287C>T TGC>TGT (C89C)" "polymorphisms silent substitution" "Germline" "" "" "0" "" "" "g.6433928G>A" "" "benign" "" "0000059523" "1" "30" "17" "6330379" "6330379" "subst" "0" "00234" "AIPL1_000154" "g.6330379T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6427059T>C" "" "likely benign" "" "0000059524" "2" "30" "17" "6330379" "6330379" "subst" "0" "00234" "AIPL1_000154" "g.6330379T>C" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous missense variant" "Unknown" "" "" "0" "" "" "g.6427059T>C" "" "likely benign" "" "0000059525" "1" "30" "17" "6330403" "6330403" "subst" "0.0627081" "00234" "AIPL1_000156" "g.6330403A>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs925615" "0" "" "" "g.6427083A>G" "" "likely benign" "" "0000059526" "2" "30" "17" "6330403" "6330403" "subst" "0.0627081" "00234" "AIPL1_000156" "g.6330403A>G" "" "{PMID:Tan 2012:22412862}" "" "" "homozygous SNP" "Unknown" "" "rs925615" "0" "" "" "g.6427083A>G" "" "likely benign" "" "0000066244" "1" "50" "17" "6329030" "6329030" "subst" "0.00259137" "01251" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Zernant 2005:16123401}" "" "R302L" "" "Germline" "" "" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000090070" "3" "70" "17" "6330356" "6330356" "subst" "0" "01552" "AIPL1_000066" "g.6330356G>A" "" "" "" "" "{CV:99804}" "Germline" "yes" "rs62637009" "0" "" "" "g.6427036G>A" "" "likely pathogenic" "" "0000130223" "3" "70" "17" "6337337" "6337337" "dup" "0" "01758" "AIPL1_000157" "g.6337337dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.6434017dup" "" "likely pathogenic" "ACMG" "0000158326" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "01769" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6426626C>G" "" "pathogenic" "" "0000162812" "3" "90" "17" "6331638" "6331638" "subst" "1.66091E-5" "01769" "AIPL1_000159" "g.6331638C>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6428318C>A" "" "pathogenic" "" "0000247451" "0" "10" "17" "6330327" "6330327" "subst" "0.00234303" "02330" "AIPL1_000064" "g.6330327A>G" "" "" "" "AIPL1(NM_014336.4):c.516T>C (p.H172=), AIPL1(NM_014336.5):c.516T>C (p.H172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6427007A>G" "" "benign" "" "0000247467" "0" "30" "17" "6337369" "6337369" "subst" "0" "02330" "AIPL1_000169" "g.6337369A>G" "" "" "" "AIPL1(NM_014336.5):c.146T>C (p.I49T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434049A>G" "" "likely benign" "" "0000257464" "0" "50" "17" "6328929" "6328929" "subst" "0.00178609" "02330" "AIPL1_000163" "g.6328929C>T" "" "" "" "AIPL1(NM_014336.4):c.1006G>A (p.A336T), AIPL1(NM_014336.5):c.1006G>A (p.A336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425609C>T" "" "VUS" "" "0000257465" "0" "50" "17" "6328907" "6328907" "subst" "4.07113E-5" "02330" "AIPL1_000162" "g.6328907G>A" "" "" "" "AIPL1(NM_014336.4):c.1028C>T (p.P343L), AIPL1(NM_014336.5):c.1028C>T (p.P343L, p.(Pro343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425587G>A" "" "VUS" "" "0000257466" "0" "10" "17" "6328845" "6328845" "subst" "6.97865E-5" "02330" "AIPL1_000160" "g.6328845C>T" "" "" "" "AIPL1(NM_014336.5):c.1090G>A (p.A364T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425525C>T" "" "benign" "" "0000257467" "0" "10" "17" "6328809" "6328809" "subst" "0.00455374" "02330" "AIPL1_000069" "g.6328809G>A" "" "" "" "AIPL1(NM_014336.5):c.1126C>T (p.P376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425489G>A" "" "benign" "" "0000257468" "0" "30" "17" "6337381" "6337381" "subst" "8.12797E-6" "02330" "AIPL1_000171" "g.6337381T>C" "" "" "" "AIPL1(NM_014336.5):c.134A>G (p.E45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434061T>C" "" "likely benign" "" "0000257469" "0" "10" "17" "6337375" "6337375" "subst" "0.000910258" "02330" "AIPL1_000170" "g.6337375G>C" "" "" "" "AIPL1(NM_014336.4):c.140C>G (p.T47R), AIPL1(NM_014336.5):c.140C>G (p.T47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434055G>C" "" "benign" "" "0000257470" "0" "30" "17" "6337271" "6337271" "subst" "0.00169594" "02330" "AIPL1_000077" "g.6337271G>A" "" "" "" "AIPL1(NM_014336.5):c.244C>T (p.H82Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6433951G>A" "" "likely benign" "" "0000257471" "0" "10" "17" "6337248" "6337248" "subst" "0.00419633" "02330" "AIPL1_000082" "g.6337248G>A" "" "" "" "AIPL1(NM_014336.4):c.267C>T (p.C89=), AIPL1(NM_014336.5):c.267C>T (p.C89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6433928G>A" "" "benign" "" "0000257472" "0" "10" "17" "6330216" "6330216" "subst" "0.000353337" "02330" "AIPL1_000167" "g.6330216C>T" "" "" "" "AIPL1(NM_014336.4):c.627G>A (p.R209=), AIPL1(NM_014336.5):c.627G>A (p.R209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6426896C>T" "" "benign" "" "0000257473" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "02330" "AIPL1_000010" "g.6329101C>T" "" "" "" "AIPL1(NM_014336.5):c.834G>A (p.W278*, p.(Trp278Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000257474" "0" "30" "17" "6329030" "6329030" "subst" "0.00259137" "02330" "AIPL1_000036" "g.6329030C>A" "" "" "" "AIPL1(NM_014336.4):c.905G>T (p.R302L), AIPL1(NM_014336.5):c.905G>T (p.R302L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000257475" "0" "10" "17" "6328998" "6328998" "subst" "0.0012723" "02330" "AIPL1_000165" "g.6328998C>A" "" "" "" "AIPL1(NM_014336.4):c.937G>T (p.A313S), AIPL1(NM_014336.5):c.937G>T (p.A313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425678C>A" "" "benign" "" "0000257476" "0" "30" "17" "6337433" "6337433" "subst" "0.000321218" "02330" "AIPL1_000172" "g.6337433G>A" "" "" "" "AIPL1(NM_014336.5):c.97-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434113G>A" "" "likely benign" "" "0000257477" "0" "10" "17" "6337427" "6337427" "subst" "0.00110708" "02330" "AIPL1_000029" "g.6337427C>T" "" "" "" "AIPL1(NM_014336.4):c.97-9G>A, AIPL1(NM_014336.5):c.97-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434107C>T" "" "benign" "" "0000259006" "0" "10" "17" "6330068" "6330068" "subst" "0.72822" "02325" "AIPL1_000044" "g.6330068T>C" "" "" "" "AIPL1(NM_014336.5):c.651A>G (p.P217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6426748T>C" "" "benign" "" "0000262144" "0" "50" "17" "6328907" "6328907" "subst" "4.07113E-5" "01943" "AIPL1_000162" "g.6328907G>A" "" "" "" "AIPL1(NM_014336.4):c.1028C>T (p.P343L), AIPL1(NM_014336.5):c.1028C>T (p.P343L, p.(Pro343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425587G>A" "" "VUS" "" "0000262146" "0" "30" "17" "6337375" "6337375" "subst" "0.000910258" "01943" "AIPL1_000170" "g.6337375G>C" "" "" "" "AIPL1(NM_014336.4):c.140C>G (p.T47R), AIPL1(NM_014336.5):c.140C>G (p.T47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434055G>C" "" "likely benign" "" "0000262147" "0" "30" "17" "6337248" "6337248" "subst" "0.00419633" "01943" "AIPL1_000082" "g.6337248G>A" "" "" "" "AIPL1(NM_014336.4):c.267C>T (p.C89=), AIPL1(NM_014336.5):c.267C>T (p.C89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6433928G>A" "" "likely benign" "" "0000262148" "0" "50" "17" "6331798" "6331798" "subst" "2.03422E-5" "01943" "AIPL1_000168" "g.6331798C>T" "" "" "" "AIPL1(NM_014336.4):c.305G>A (p.R102Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6428478C>T" "" "VUS" "" "0000262149" "0" "30" "17" "6329939" "6329939" "subst" "0.000565634" "01943" "AIPL1_000166" "g.6329939G>A" "" "" "" "AIPL1(NM_014336.4):c.780C>T (p.H260=), AIPL1(NM_014336.5):c.780C>T (p.H260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6426619G>A" "" "likely benign" "" "0000262150" "0" "30" "17" "6329030" "6329030" "subst" "0.00259137" "01943" "AIPL1_000036" "g.6329030C>A" "" "" "" "AIPL1(NM_014336.4):c.905G>T (p.R302L), AIPL1(NM_014336.5):c.905G>T (p.R302L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000262151" "0" "30" "17" "6328998" "6328998" "subst" "0.0012723" "01943" "AIPL1_000165" "g.6328998C>A" "" "" "" "AIPL1(NM_014336.4):c.937G>T (p.A313S), AIPL1(NM_014336.5):c.937G>T (p.A313S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425678C>A" "" "likely benign" "" "0000262152" "0" "50" "17" "6328971" "6328971" "subst" "3.2996E-5" "01943" "AIPL1_000164" "g.6328971G>A" "" "" "" "AIPL1(NM_014336.4):c.964C>T (p.R322C), AIPL1(NM_014336.5):c.964C>T (p.R322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425651G>A" "" "VUS" "" "0000262153" "0" "30" "17" "6337427" "6337427" "subst" "0.00110708" "01943" "AIPL1_000029" "g.6337427C>T" "" "" "" "AIPL1(NM_014336.4):c.97-9G>A, AIPL1(NM_014336.5):c.97-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6434107C>T" "" "likely benign" "" "0000336343" "21" "10" "17" "6329030" "6329030" "subst" "0.00259137" "00006" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Weisz Hubshman 2018:29272404}" "" "NM_001033054:c.G716T (R239L)" "" "Germline" "" "" "0" "" "" "g.6425710C>A" "" "benign" "" "0000338562" "0" "10" "17" "6329917" "6329917" "subst" "0.0333292" "02327" "AIPL1_000049" "g.6329917C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6426597C>T" "" "benign" "" "0000338563" "0" "10" "17" "6331836" "6331836" "subst" "0.566483" "02327" "AIPL1_000175" "g.6331836T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6428516T>G" "" "benign" "" "0000340352" "0" "10" "17" "6330068" "6330068" "subst" "0.72822" "02327" "AIPL1_000044" "g.6330068T>C" "" "" "" "AIPL1(NM_014336.5):c.651A>G (p.P217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6426748T>C" "" "benign" "" "0000342582" "0" "30" "17" "6329030" "6329030" "subst" "0.00259137" "02327" "AIPL1_000036" "g.6329030C>A" "" "" "" "AIPL1(NM_014336.4):c.905G>T (p.R302L), AIPL1(NM_014336.5):c.905G>T (p.R302L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000346838" "0" "10" "17" "6331803" "6331803" "subst" "0.6435" "02327" "AIPL1_000068" "g.6331803T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6428483T>C" "" "benign" "" "0000358165" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "01243" "AIPL1_000010" "g.6329101C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000358166" "3" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.6433984C>A" "" "pathogenic (recessive)" "" "0000438658" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "01244" "AIPL1_000010" "g.6329101C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000562742" "0" "30" "17" "6328811" "6328811" "subst" "0" "01804" "AIPL1_000176" "g.6328811G>A" "" "" "" "AIPL1(NM_001033054.1):c.935C>T (p.(Pro312Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425491G>A" "" "likely benign" "" "0000562743" "0" "30" "17" "6328827" "6328827" "subst" "0.000269058" "01943" "AIPL1_000177" "g.6328827G>A" "" "" "" "AIPL1(NM_014336.4):c.1108C>T (p.P370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425507G>A" "" "likely benign" "" "0000562744" "0" "30" "17" "6328929" "6328929" "subst" "0.00178609" "01943" "AIPL1_000163" "g.6328929C>T" "" "" "" "AIPL1(NM_014336.4):c.1006G>A (p.A336T), AIPL1(NM_014336.5):c.1006G>A (p.A336T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425609C>T" "" "likely benign" "" "0000562745" "0" "10" "17" "6328964" "6328964" "subst" "0.00391951" "02330" "AIPL1_000030" "g.6328964C>A" "" "" "" "AIPL1(NM_014336.4):c.971G>T (p.R324L), AIPL1(NM_014336.5):c.971G>T (p.R324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425644C>A" "" "benign" "" "0000562746" "0" "50" "17" "6328964" "6328964" "subst" "0.00391951" "01943" "AIPL1_000030" "g.6328964C>A" "" "" "" "AIPL1(NM_014336.4):c.971G>T (p.R324L), AIPL1(NM_014336.5):c.971G>T (p.R324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425644C>A" "" "VUS" "" "0000562747" "0" "50" "17" "6328971" "6328971" "subst" "3.2996E-5" "02330" "AIPL1_000164" "g.6328971G>A" "" "" "" "AIPL1(NM_014336.4):c.964C>T (p.R322C), AIPL1(NM_014336.5):c.964C>T (p.R322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425651G>A" "" "VUS" "" "0000562748" "0" "50" "17" "6329039" "6329039" "subst" "0" "01943" "AIPL1_000178" "g.6329039T>C" "" "" "" "AIPL1(NM_014336.4):c.896A>G (p.K299R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6425719T>C" "" "VUS" "" "0000562749" "0" "10" "17" "6329954" "6329954" "subst" "0.00163363" "02330" "AIPL1_000047" "g.6329954A>G" "" "" "" "AIPL1(NM_014336.5):c.765T>C (p.D255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6426634A>G" "" "benign" "" "0000562750" "0" "10" "17" "6330187" "6330187" "subst" "0.0015729" "02330" "AIPL1_000179" "g.6330187C>T" "" "" "" "AIPL1(NM_014336.5):c.642+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6426867C>T" "" "benign" "" "0000562751" "0" "10" "17" "6330327" "6330327" "subst" "0.00234303" "01943" "AIPL1_000064" "g.6330327A>G" "" "" "" "AIPL1(NM_014336.4):c.516T>C (p.H172=), AIPL1(NM_014336.5):c.516T>C (p.H172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6427007A>G" "" "benign" "" "0000562752" "0" "30" "17" "6331702" "6331702" "subst" "0.00403492" "02325" "AIPL1_000071" "g.6331702T>A" "" "" "" "AIPL1(NM_014336.3):c.401A>T (p.(Tyr134Phe)), AIPL1(NM_014336.4):c.401A>T (p.Y134F), AIPL1(NM_014336.5):c.401A>T (p.Y134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6428382T>A" "" "likely benign" "" "0000562753" "0" "50" "17" "6331720" "6331720" "subst" "0.000321978" "02330" "AIPL1_000180" "g.6331720G>A" "" "" "" "AIPL1(NM_014336.4):c.383C>T (p.A128V), AIPL1(NM_014336.5):c.383C>T (p.A128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6428400G>A" "" "VUS" "" "0000562754" "0" "50" "17" "6331739" "6331739" "subst" "4.0713E-6" "01943" "AIPL1_000038" "g.6331739C>G" "" "" "" "AIPL1(NM_014336.4):c.364G>C (p.G122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6428419C>G" "" "VUS" "" "0000562756" "0" "10" "17" "6337247" "6337247" "subst" "0.208804" "02327" "AIPL1_000078" "g.6337247C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6433927C>G" "" "benign" "" "0000562757" "0" "50" "17" "6337249" "6337249" "subst" "0" "01804" "AIPL1_000181" "g.6337249C>T" "" "" "" "AIPL1(NM_001033054.1):c.266G>A (p.(Cys89Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6433929C>T" "" "VUS" "" "0000562758" "0" "10" "17" "6338441" "6338441" "subst" "0.000255969" "02330" "AIPL1_000182" "g.6338441G>T" "" "" "" "AIPL1(NM_014336.5):c.-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6435121G>T" "" "benign" "" "0000616760" "0" "30" "17" "6329939" "6329939" "subst" "0.000565634" "02330" "AIPL1_000166" "g.6329939G>A" "" "" "" "AIPL1(NM_014336.4):c.780C>T (p.H260=), AIPL1(NM_014336.5):c.780C>T (p.H260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6426619G>A" "" "likely benign" "" "0000616761" "0" "30" "17" "6331683" "6331683" "subst" "2.45437E-5" "01943" "AIPL1_000183" "g.6331683C>T" "" "" "" "AIPL1(NM_014336.4):c.420G>A (p.L140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6428363C>T" "" "likely benign" "" "0000616762" "0" "30" "17" "6337281" "6337281" "subst" "0.000284578" "01943" "AIPL1_000065" "g.6337281G>A" "" "" "" "AIPL1(NM_014336.4):c.234C>T (p.S78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6433961G>A" "" "likely benign" "" "0000623738" "0" "50" "17" "6331720" "6331720" "subst" "0.000321978" "01943" "AIPL1_000180" "g.6331720G>A" "" "" "" "AIPL1(NM_014336.4):c.383C>T (p.A128V), AIPL1(NM_014336.5):c.383C>T (p.A128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6428400G>A" "" "VUS" "" "0000649678" "1" "30" "17" "6329030" "6329030" "subst" "0.00259137" "03575" "AIPL1_000036" "g.6329030C>A" "48/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "48 heterozygous; {DB:CLININrs62637015}" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000669413" "3" "30" "17" "6329030" "6329030" "subst" "0.00259137" "03575" "AIPL1_000036" "g.6329030C>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs62637015}" "Germline" "" "rs62637015" "0" "" "" "g.6425710C>A" "" "likely benign" "" "0000680975" "0" "30" "17" "6331817" "6331817" "subst" "0.0128896" "01804" "AIPL1_000001" "g.6331817C>T" "" "" "" "AIPL1(NM_001033055.1):c.106G>A (p.(Val36Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684409" "1" "70" "17" "6329950" "6329950" "subst" "0" "00004" "AIPL1_000184" "g.6329950G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000684432" "2" "70" "17" "6329952" "6329952" "subst" "0" "00004" "AIPL1_000185" "g.6329952A>C" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000684489" "1" "70" "17" "6331762" "6331762" "subst" "0.00397687" "00004" "AIPL1_000075" "g.6331762G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.6428442G>A" "" "likely pathogenic" "" "0000684490" "1" "70" "17" "6328809" "6328809" "subst" "0.00455374" "00004" "AIPL1_000069" "g.6328809G>A" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.6425489G>A" "" "likely pathogenic" "" "0000684616" "3" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00004" "AIPL1_000010" "g.6329101C>T" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic (recessive)" "" "0000684996" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00004" "AIPL1_000010" "g.6329101C>T" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684997" "0" "90" "17" "6337300" "6337300" "subst" "0" "00004" "AIPL1_000186" "g.6337300C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684998" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "00004" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000684999" "0" "90" "17" "6337416" "6337416" "del" "0" "00004" "AIPL1_000187" "g.6337416del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000692436" "0" "50" "17" "6331702" "6331702" "subst" "0.00403492" "01943" "AIPL1_000071" "g.6331702T>A" "" "" "" "AIPL1(NM_014336.3):c.401A>T (p.(Tyr134Phe)), AIPL1(NM_014336.4):c.401A>T (p.Y134F), AIPL1(NM_014336.5):c.401A>T (p.Y134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704003" "3" "70" "17" "6337399" "6337399" "subst" "0" "00008" "AIPL1_000041" "g.6337399G>T" "" "{PMID:Khaliq 2003:12573663}" "" "116C>A / Thr39Asp" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000710219" "3" "90" "17" "6330296" "6330296" "subst" "0" "00006" "AIPL1_000188" "g.6330296C>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.6426976C>A" "" "pathogenic" "" "0000711797" "1" "90" "17" "6328871" "6328882" "del" "0.000876871" "00008" "AIPL1_000161" "g.6328871_6328882del" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:del1053-1064 AIPL 1 Pro 351-354del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711798" "1" "90" "17" "6328871" "6328882" "del" "0.000876871" "00008" "AIPL1_000161" "g.6328871_6328882del" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:del1053-1064 AIPL 1 Pro 351-354del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000711799" "1" "90" "17" "6328926" "6328927" "del" "0" "00008" "AIPL1_000039" "g.6328926_6328927del" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:1008-1009del AIPL1 Frameshift after Ala336" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000711800" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00008" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:834G>A, TGG?TGA AIPL1 Trp278Ter" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000711801" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00008" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:834G>A, TGG?TGA AIPL1 Trp278Ter" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000711802" "1" "70" "17" "0" "0" "" "0" "00008" "MYH2_000008" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:717T>C, TGC?CGC AIPL1 Cys239Arg" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000711829" "1" "30" "17" "0" "0" "" "0" "00008" "MYH2_000008" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:111T>C (TTT?TTC) Phe37Phe" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711830" "1" "30" "17" "6337281" "6337281" "subst" "0.000284578" "00008" "AIPL1_000065" "g.6337281G>A" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:234C>T (TCC?TCT) Ser78Ser" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711831" "1" "30" "17" "0" "0" "" "0" "00008" "MYH2_000008" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:287C>T (TGC?TGT) Cys89Cys" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711832" "1" "30" "17" "6337247" "6337247" "subst" "0.208804" "00008" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Sohocki 2001:11139241}" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711833" "1" "30" "17" "0" "0" "" "0" "00008" "MYH2_000008" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:300G>A (CTG?CTA) Leu100Leu" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711834" "1" "30" "17" "6330327" "6330327" "subst" "0.00234303" "00008" "AIPL1_000064" "g.6330327A>G" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:516T>C (CAT?CAC) His172His" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711835" "1" "30" "17" "0" "0" "" "0" "00008" "MYH2_000008" "g.?" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:651G>A (CCG?CCA) Pro217Pro" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000711836" "1" "30" "17" "6329954" "6329954" "subst" "0.00163363" "00008" "AIPL1_000047" "g.6329954A>G" "" "{PMID:Sohocki 2001:11139241}" "" "AF148864:765T>C (GAT?GAC) Asp255Asp" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000713609" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Carss 2017:28041643}" "" "17:6329101C>T ENST00000381129.3:c.834G>A (Trp278Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000730980" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "likely pathogenic (recessive)" "" "0000731033" "2" "70" "17" "6331699" "6331699" "dup" "0" "00000" "AIPL1_000189" "g.6331699dup" "" "{PMID:Bryant 2018:29343940}" "" "404_405insA" "" "Germline" "" "" "0" "" "" "g.6428379dup" "" "likely pathogenic (recessive)" "" "0000731270" "2" "70" "17" "6331745" "6331748" "del" "0" "00000" "AIPL1_000190" "g.6331745_6331748del" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.6428425_6428428del" "" "likely pathogenic (recessive)" "" "0000731271" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic (recessive)" "" "0000731292" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic (recessive)" "" "0000731293" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00000" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Thompson 2017:29178642}" "" "" "" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "likely pathogenic (recessive)" "" "0000731432" "3" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:DiIorio 2017:29053603}" "" "NM_001033054:c.645G>A" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic (recessive)" "" "0000733166" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00000" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS2-2A>G" "" "Germline" "" "" "0" "" "" "g.6428508T>C" "" "likely pathogenic" "" "0000733604" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000736079" "1" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "likely pathogenic" "" "0000736126" "2" "70" "17" "6331739" "6331739" "subst" "0" "00000" "AIPL1_000192" "g.6331739C>T" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.6428419C>T" "" "likely pathogenic" "" "0000736369" "1" "10" "17" "6331817" "6331817" "subst" "0.0128896" "00008" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Booij 2005:16272259}" "" "gi6716706:286G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000736395" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00008" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "p.W278X" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000736396" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00008" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "p.W278X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736397" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00008" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer 2006:16505055}" "" "p.W278X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000759820" "3" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C241T p.Q81X" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "likely pathogenic" "" "0000759821" "3" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C241T p.Q81X" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "likely pathogenic" "" "0000759822" "1" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C241T p.Q81X" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "likely pathogenic" "" "0000759823" "1" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C241T p.Q81X" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "likely pathogenic" "" "0000759856" "2" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Wang 2016:27422788}" "" "c.A466T p.K156X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000759857" "2" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Wang 2016:27422788}" "" "c.G722T p.E258X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000760002" "0" "50" "17" "6337271" "6337271" "subst" "0.00169594" "00000" "AIPL1_000077" "g.6337271G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.6433951G>A" "" "VUS" "" "0000760199" "3" "70" "17" "6337250" "6337250" "subst" "0" "00000" "AIPL1_000062" "g.6337250A>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.6433930A>G" "" "likely pathogenic" "" "0000760223" "3" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000760352" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000765763" "0" "70" "17" "6337337" "6337337" "dup" "0" "00000" "AIPL1_000157" "g.6337337dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.6434017dup" "" "likely pathogenic" "" "0000765779" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000765789" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000765847" "0" "70" "17" "6337337" "6337337" "dup" "0" "00000" "AIPL1_000157" "g.6337337dup" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.6434017dup" "" "likely pathogenic" "" "0000766031" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000766032" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000766033" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000766034" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000766035" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000766036" "0" "90" "17" "6337304" "6337304" "subst" "4.06464E-6" "01243" "AIPL1_000055" "g.6337304C>A" "8/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000783253" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Vamos 2016:26165328}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic (recessive)" "" "0000783254" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Vamos 2016:26165328}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic (recessive)" "" "0000783271" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Srilekha 2015:26147992}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic (recessive)" "" "0000783272" "3" "90" "17" "6337268" "6337268" "subst" "4.06928E-6" "00000" "AIPL1_000014" "g.6337268C>T" "" "{PMID:Srilekha 2015:26147992}" "" "" "" "Germline" "" "" "0" "" "" "g.6433948C>T" "" "pathogenic (recessive)" "" "0000783274" "3" "90" "17" "6330224" "6330233" "del" "0" "00000" "AIPL1_000011" "g.6330224_6330233del" "" "{PMID:Srilekha 2015:26147992}" "" "613_622delATCATCTGCC" "" "Germline" "" "" "0" "" "" "g.6426904_6426913del" "" "pathogenic (recessive)" "" "0000783798" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "" "0000783799" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "" "0000783800" "1" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "" "0000783875" "2" "50" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "VUS" "" "0000783876" "2" "50" "17" "6337363" "6337363" "subst" "0" "00000" "AIPL1_000196" "g.6337363T>C" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6434043T>C" "" "VUS" "" "0000783882" "1" "50" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6428362G>A" "" "VUS" "" "0000783903" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000783967" "1" "50" "17" "6330271" "6330271" "subst" "0" "00000" "AIPL1_000194" "g.6330271A>G" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6426951A>G" "" "VUS" "" "0000783968" "1" "50" "17" "6329989" "6329991" "del" "0" "00000" "AIPL1_000193" "g.6329989_6329991del" "" "{PMID:Wang 2015:26047050}" "" "733_735delGAG" "" "Germline" "" "" "0" "" "" "g.6426669_6426671del" "" "VUS" "" "0000783972" "2" "50" "17" "6331778" "6331778" "subst" "0" "00000" "AIPL1_000195" "g.6331778G>A" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.6428458G>A" "" "VUS" "" "0000785453" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Maria 2015:25775262}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic (recessive)" "" "0000785454" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Maria 2015:25775262}" "" "" "" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic (recessive)" "" "0000787684" "3" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "likely pathogenic" "" "0000790468" "1" "50" "17" "6337375" "6337375" "subst" "0.000910258" "00000" "AIPL1_000170" "g.6337375G>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.6434055G>C" "" "VUS" "" "0000790469" "2" "50" "17" "6328998" "6328998" "subst" "0.0012723" "00000" "AIPL1_000165" "g.6328998C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.6425678C>A" "" "VUS" "" "0000790489" "0" "50" "17" "6328964" "6328964" "subst" "0.00391951" "00000" "AIPL1_000030" "g.6328964C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs150427474" "0" "" "" "g.6425644C>A" "" "VUS" "" "0000790585" "0" "50" "17" "6331817" "6331817" "subst" "0.0128896" "00000" "AIPL1_000001" "g.6331817C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs62619924" "0" "" "" "g.6428497C>T" "" "VUS" "" "0000790595" "1" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00000" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000791154" "11" "50" "17" "6329982" "6329982" "subst" "0.000211195" "00000" "AIPL1_000198" "g.6329982T>G" "0,00031 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.6426662T>G" "" "VUS" "ACMG" "0000791155" "11" "50" "17" "6329982" "6329982" "subst" "0.000211195" "00000" "AIPL1_000198" "g.6329982T>G" "0,00031 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.6426662T>G" "" "VUS" "ACMG" "0000791156" "11" "50" "17" "6329982" "6329982" "subst" "0.000211195" "00000" "AIPL1_000198" "g.6329982T>G" "0,00031 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.6426662T>G" "" "VUS" "ACMG" "0000791225" "0" "50" "17" "6329045" "6329045" "subst" "0" "00000" "AIPL1_000197" "g.6329045A>G" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.6425725A>G" "" "VUS" "ACMG" "0000791605" "0" "50" "17" "6331819" "6331819" "subst" "0" "00000" "AIPL1_000199" "g.6331819C>T" "" "{PMID:Hosono 2018:29844330}" "" "c.284G>A" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs563684228" "0" "" "" "g.6428499C>T" "" "VUS" "ACMG" "0000792160" "3" "90" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "1/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "926_927ins18bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792161" "3" "90" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "1/87 cases; 0/96 controls" "{PMID:li 2011:21602930}" "" "926_927ins18bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794280" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_014336.4:c.421C>T, NP_055151.3:p.(Gln141Ter), NC_000017.10:g.6331682G>A" "" "Germline" "?" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000794957" "3" "50" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795059" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Khan-2013:23134348}" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000795964" "0" "30" "17" "6330227" "6330227" "subst" "0.000186797" "00000" "AIPL1_000200" "g.6330227T>C" "" "{PMID:Chen-2013:23661368}" "" "c.616A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000796048" "0" "90" "17" "6337247" "6337247" "subst" "0.208804" "00000" "AIPL1_000078" "g.6337247C>G" "" "{PMID:Jonsson-2013:23443024}" "" "c.268G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000796141" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Verma-2013:24066033}" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796186" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wang-2013:23847139}" "" "c.834G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796187" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wang-2013:23847139}" "" "c.834G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796188" "0" "90" "17" "6330296" "6330296" "subst" "0" "00000" "AIPL1_000188" "g.6330296C>A" "" "{PMID:Wang-2013:23847139}" "" "c.547G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796189" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wang-2013:23847139}" "" "c.834G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796190" "0" "90" "17" "6330296" "6330296" "subst" "0" "00000" "AIPL1_000188" "g.6330296C>A" "" "{PMID:Wang-2013:23847139}" "" "c.547G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796191" "3" "90" "17" "6330356" "6330356" "subst" "0" "00000" "AIPL1_000066" "g.6330356G>A" "" "{PMID:Wang-2013:23847139}" "" "c.487C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796192" "0" "90" "17" "6337250" "6337250" "subst" "0" "00000" "AIPL1_000062" "g.6337250A>G" "" "{PMID:Wang-2013:23847139}" "" "c.265T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796193" "0" "90" "17" "6337301" "6337301" "subst" "0" "00000" "AIPL1_000061" "g.6337301A>G" "" "{PMID:Wang-2013:23847139}" "" "c.214T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796665" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.834G>A" "" "Germline" "" "rs62637014" "0" "" "" "" "" "pathogenic" "" "0000796685" "0" "70" "17" "6331702" "6331702" "subst" "0.00403492" "00000" "AIPL1_000071" "g.6331702T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.401A>T" "" "Germline" "" "rs16955851" "0" "" "" "" "" "likely pathogenic" "" "0000796686" "0" "70" "17" "6319593" "6319593" "subst" "0" "00000" "AIPL1_000000" "g.6319593C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.10342G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796768" "3" "90" "17" "6338375" "6338375" "subst" "0" "00000" "AIPL1_000019" "g.6338375A>G" "" "{PMID:Eisenberger-2013:24265693}" "" "c.50T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796867" "0" "70" "17" "6331702" "6331702" "subst" "0.00403492" "00000" "AIPL1_000071" "g.6331702T>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.401A>T" "" "Germline" "" "rs16955851" "0" "" "" "" "" "likely pathogenic" "" "0000797171" "3" "50" "17" "6329078" "6329078" "subst" "0" "00000" "AIPL1_000201" "g.6329078T>A" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.857A>T/p.D286V, allele 2: c.857A>T/p.D286V" "homozygous" "Germline" "yes" "" "0" "" "" "g.6425758T>A" "" "VUS" "ACMG" "0000797172" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.834G>A/p.W278*, allele 2: c.276+6T>C/p.?" "heterozygous" "Germline" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "ACMG" "0000797197" "0" "50" "17" "6337233" "6337233" "subst" "0" "00000" "AIPL1_000203" "g.6337233A>G" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.834G>A/p.W278*, allele 2: c.276+6T>C/p.?" "heterozygous" "Germline" "?" "" "0" "" "" "g.6433913A>G" "" "VUS" "ACMG" "0000797512" "0" "90" "17" "6329120" "6329120" "subst" "0" "00000" "AIPL1_000202" "g.6329120C>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "AIPL1 c.(?_-1) _(276+1_277-1)del c.815G>C, p.(Arg272Pro)" "" "Germline" "?" "" "0" "" "" "g.6425800C>G" "" "pathogenic" "ACMG" "0000797513" "0" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "AIPL1 c.(?_-1) _(276+1_277-1)del, c.815G>C, p.(Arg272Pro)" "" "Germline" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000797514" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "AIPL1 c.465G>T, p.(Gln155His), splice mutation c.834G>A, p.(Trp278*)" "" "Germline" "?" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "ACMG" "0000797515" "0" "50" "17" "6331638" "6331638" "subst" "1.66091E-5" "00000" "AIPL1_000159" "g.6331638C>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "AIPL1 c.465G>T, p.(Gln155His), splice mutation c.834G>A, p.(Trp278*)" "" "Germline" "?" "" "0" "" "" "g.6428318C>A" "" "VUS" "ACMG" "0000797930" "3" "50" "17" "6329989" "6329991" "del" "0" "00000" "AIPL1_000193" "g.6329989_6329991del" "" "{PMID:Jespersgaar 2019:30718709}" "" "AIPL1 c.733_735del, p.(Glu245del), c.733_735del, p.(Glu245del)" "homozygous" "Germline" "?" "" "0" "" "" "g.6426669_6426671del" "" "VUS" "ACMG" "0000808212" "0" "30" "17" "6330216" "6330216" "subst" "0.000353337" "01943" "AIPL1_000167" "g.6330216C>T" "" "" "" "AIPL1(NM_014336.4):c.627G>A (p.R209=), AIPL1(NM_014336.5):c.627G>A (p.R209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808213" "0" "30" "17" "6338339" "6338339" "subst" "0" "01943" "AIPL1_000204" "g.6338339G>T" "" "" "" "AIPL1(NM_014336.4):c.86C>A (p.T29N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811832" "0" "70" "4" "6337363" "6337363" "subst" "0" "00000" "AIPL1_000196" "g.6337363T>C" "" "{PMID:Gao 2019:31054281}" "" "c.152A>G, p.Asp51Gly" "heterozygous" "Germline" "?" "" "0" "" "" "g.6434043T>C" "" "likely pathogenic" "" "0000812087" "0" "70" "17" "6337404" "6337404" "del" "0" "00000" "AIPL1_000035" "g.6337404del" "" "{PMID:Martin Merida 2019:30902645}" "" "RDH12 Ex.5 c.295C>A p.(Leu99Ile), Ex.5 c.295C>A p.(Leu99Ile), AIPL1 : Ex.2 c.112del p.(Arg38Alafs*3)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.6434084del" "" "likely pathogenic" "" "0000812480" "3" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Tayebi 2019:30820146}" "" "c.834G>A, p.(Trp278*)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000813628" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813631" "1" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813632" "3" "70" "17" "6329127" "6329127" "subst" "0" "00000" "AIPL1_000205" "g.6329127G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.9393C>T, c.808C>T, p.R270C" "" "Germline" "yes" "" "0" "" "" "g.6425807G>A" "" "likely pathogenic" "ACMG" "0000813648" "1" "70" "17" "6331697" "6331697" "subst" "0" "00000" "AIPL1_000206" "g.6331697C>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6823G>T, c.406G>T, p.D136Y" "" "Germline" "yes" "" "0" "" "" "g.6428377C>A" "" "likely pathogenic" "ACMG" "0000813651" "1" "90" "17" "6337363" "6337363" "subst" "0" "00000" "AIPL1_000196" "g.6337363T>C" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.1157A>G, c.152A>G, p.D51G" "" "Germline" "yes" "" "0" "" "" "g.6434043T>C" "" "pathogenic" "ACMG" "0000813658" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813683" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813706" "1" "90" "17" "6330201" "6330201" "subst" "0" "00000" "AIPL1_000020" "g.6330201C>G" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.8319G>C, c.642G>C, p.K214N" "" "Germline" "yes" "" "0" "" "" "g.6426881C>G" "" "pathogenic" "ACMG" "0000813722" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813729" "1" "90" "17" "6329025" "6329025" "subst" "4.16948E-6" "00000" "AIPL1_000006" "g.6329025C>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.9495G>T, c.910G>T, p.E304X" "" "Germline" "yes" "" "0" "" "" "g.6425705C>A" "" "pathogenic" "ACMG" "0000813737" "2" "90" "17" "6337363" "6337363" "subst" "0" "00000" "AIPL1_000196" "g.6337363T>C" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.1157A>G, c.152A>G, p.D51G" "" "Germline" "yes" "" "0" "" "" "g.6434043T>C" "" "pathogenic" "ACMG" "0000813744" "2" "90" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.9394G>A, c.809G>A, p.R270H" "" "Germline" "yes" "" "0" "" "" "g.6425806C>T" "" "pathogenic" "ACMG" "0000813746" "2" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813776" "2" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000813789" "2" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Xu 2020:31630094}" "" "AIPL1 NM_014336: g.6838C>T, c.421C>T, p.Q141X" "" "Germline" "yes" "" "0" "" "" "g.6428362G>A" "" "pathogenic" "ACMG" "0000815287" "0" "50" "17" "6328964" "6328964" "subst" "0.00391951" "00000" "AIPL1_000030" "g.6328964C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "AIPL1:NM_014336 c.G971T, p.R324L" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.6425644C>A" "" "VUS" "ACMG" "0000815375" "3" "90" "17" "6337411" "6337418" "dup" "0" "00000" "AIPL1_000025" "g.6337411_6337418dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "AIPL1:NM_014336 c.97_104dup, p.(Phe35Leufs*2)" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.6434091_6434098dup" "" "pathogenic" "ACMG" "0000815376" "3" "90" "17" "6337411" "6337418" "dup" "0" "00000" "AIPL1_000025" "g.6337411_6337418dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "c.97_104dup; p.(Phe35Leufs*2)" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.6434091_6434098dup" "" "pathogenic" "ACMG" "0000816143" "0" "50" "17" "6329092" "6329097" "dup" "0" "00000" "AIPL1_000207" "g.6329092_6329097dup" "" "{PMID:Zampaglione 2020:32037395}" "" "AIPL1 c.844_849dup, p.Glu282_Ala283dup" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.6425772_6425777dup" "" "VUS" "" "0000816454" "3" "50" "17" "6329092" "6329097" "dup" "0" "00000" "AIPL1_000207" "g.6329092_6329097dup" "" "{PMID:Zampaglione 2020:32037395}" "" "c.844_849dup, p.Glu282_Ala283dup" "Located at end of transcript, homozygous" "Unknown" "?" "" "0" "" "" "g.6425772_6425777dup" "" "VUS" "" "0000819326" "1" "70" "17" "6338394" "6338394" "dup" "0" "00000" "AIPL1_000209" "g.6338394dup" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.34dup/p.V12Gfs*32, variant 2: c.238C>T/p.R80W" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.6435074dup" "" "likely pathogenic" "" "0000819560" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.834G>A/p.W278*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000819597" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.834G>A/p.W278*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000819683" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.834G>A/p.W278*" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000820096" "1" "70" "17" "6338375" "6338375" "subst" "0" "00000" "AIPL1_000019" "g.6338375A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.50T>C/p.L17P, variant 2: c.50T>C/p.L17P" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.6435055A>G" "" "likely pathogenic" "" "0000820156" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.364G>C/p.G122R" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000820157" "1" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.364G>C/p.G122R" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000820616" "1" "70" "17" "6337277" "6337277" "subst" "0" "00000" "AIPL1_000208" "g.6337277G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.34dup/p.V12Gfs*32, variant 2: c.238C>T/p.R80W" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.6433957G>A" "" "likely pathogenic" "" "0000820828" "1" "70" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.364G>C/p.G122R" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.6428419C>G" "" "likely pathogenic" "" "0000820829" "1" "70" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "AIPL1, variant 1: c.834G>A/p.W278*, variant 2: c.364G>C/p.G122R" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.6428419C>G" "" "likely pathogenic" "" "0000821152" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Turro 2020:32581362}" "" "AIPL1 c.834G>A, p.Trp278Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0000822932" "0" "70" "17" "6331699" "6331699" "dup" "0" "00000" "AIPL1_000189" "g.6331699dup" "" "{PMID:Méjécase 2020:32783370}" "" "AIPL1 c.404dup p.(Asp136Glyfs *22)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.6428379dup" "" "likely pathogenic" "" "0000822974" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Méjécase 2020:32783370}" "" "AIPL1 c.834G>A p.(Trp278*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000823311" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sallum 2020:32865313}" "" "AIPL1 c.834G>A; p.Trp278Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "ACMG" "0000823464" "0" "50" "17" "6329994" "6329996" "del" "0" "00000" "AIPL1_000173" "g.6329994_6329996del" "" "{PMID:Sallum 2020:32865313}" "" "AIPL1 c.727_729deIAAG; p.Lys243deI" "heterozygous" "Unknown" "?" "" "0" "" "" "g.6426674_6426676del" "" "VUS" "ACMG" "0000825851" "3" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Liu-2020:33090715}" "" "c.421C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826094" "0" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Liu-2020:33090715}" "" "c.421C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826095" "0" "70" "17" "6331739" "6331739" "subst" "0" "00000" "AIPL1_000192" "g.6331739C>T" "" "{PMID:Liu-2020:33090715}" "" "c.364G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826201" "0" "70" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "" "{PMID:Liu-2020:33090715}" "" "c.421C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826202" "0" "70" "17" "6337363" "6337363" "subst" "0" "00000" "AIPL1_000196" "g.6337363T>C" "" "{PMID:Liu-2020:33090715}" "" "c.152A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000843529" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843530" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843531" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843532" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843533" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843534" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843535" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843536" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843537" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843538" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843539" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843540" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Damji 2001:11548141}" "" "Trp278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843541" "11" "50" "17" "6337271" "6337271" "subst" "0.00169594" "00000" "AIPL1_000077" "g.6337271G>A" "" "{PMID:Heegaard 2003:12881340}" "" "H82Y (244C>T)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000843542" "21" "10" "17" "6331817" "6331817" "subst" "0" "00000" "AIPL1_000217" "g.6331817C>G" "" "{PMID:Heegaard 2003:12881340}" "" "H90D (286G>C)" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000843543" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00000" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Jacobson 2011:20702822}" "" "p.IVS2–2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843544" "1" "70" "17" "6331828" "6331828" "subst" "3.2624E-5" "00000" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Jacobson 2011:20702822}" "" "p.IVS2–2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843545" "1" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Jacobson 2011:20702822}" "" "p.Val33fs" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843546" "1" "70" "17" "6337299" "6337299" "subst" "0" "00000" "AIPL1_000058" "g.6337299C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp72X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843547" "1" "70" "17" "6337301" "6337301" "subst" "0" "00000" "AIPL1_000061" "g.6337301A>G" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp72Arg" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843548" "3" "70" "17" "6337304" "6337304" "subst" "4.06464E-6" "00000" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Jacobson 2011:20702822}" "" "p.Val71Phe" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843549" "1" "70" "17" "6329935" "6329935" "subst" "2.84986E-5" "00000" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Gly262Ser" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843550" "1" "70" "17" "6329935" "6329935" "subst" "2.84986E-5" "00000" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Gly262Ser" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843551" "1" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Jacobson 2011:20702822}" "" "p.Leu241del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843552" "1" "70" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Jacobson 2011:20702822}" "" "p.Leu241del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843553" "1" "70" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Jacobson 2011:20702822}" "" "p.Gly122Arg" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843554" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843555" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843556" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843557" "2" "70" "17" "6337304" "6337304" "subst" "4.06464E-6" "00000" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Jacobson 2011:20702822}" "" "p.Val71Phe" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843558" "2" "70" "17" "6337250" "6337250" "subst" "0" "00000" "AIPL1_000062" "g.6337250A>G" "" "{PMID:Jacobson 2011:20702822}" "" "p.Cys89Arg" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843559" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843560" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843561" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843562" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843563" "2" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Jacobson 2011:20702822}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843564" "3" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Pennesi 2011:21900377}" "" "p.Trp278X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843565" "1" "70" "17" "6338375" "6338375" "subst" "0" "00000" "AIPL1_000019" "g.6338375A>G" "" "{PMID:Pennesi 2011:21900377}" "" "p.Leu17Pro" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843566" "1" "70" "17" "6338375" "6338375" "subst" "0" "00000" "AIPL1_000019" "g.6338375A>G" "" "{PMID:Pennesi 2011:21900377}" "" "p.Leu17Pro" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843567" "2" "70" "17" "6330201" "6330201" "subst" "0" "00000" "AIPL1_000020" "g.6330201C>G" "" "{PMID:Pennesi 2011:21900377}" "" "p.Lys214Asn" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843568" "2" "70" "17" "6330201" "6330201" "subst" "0" "00000" "AIPL1_000020" "g.6330201C>G" "" "{PMID:Pennesi 2011:21900377}" "" "p.Lys214Asn" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000843569" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "0.013 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Trp278Ter" "" "Germline" "" "rs62637014" "0" "" "" "" "" "pathogenic" "" "0000843570" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "0.013 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Trp278Ter" "" "Germline" "" "rs62637014" "0" "" "" "" "" "pathogenic" "" "0000843571" "3" "90" "17" "6330356" "6330356" "subst" "0" "00000" "AIPL1_000066" "g.6330356G>A" "0.007 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Gln163Ter" "" "Germline" "" "rs62637009" "0" "" "" "" "" "pathogenic" "" "0000843572" "3" "90" "17" "6337251" "6337251" "subst" "0" "00000" "AIPL1_000081" "g.6337251C>T" "0.013 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Trp88Ter" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843573" "3" "90" "17" "6337251" "6337251" "subst" "0" "00000" "AIPL1_000081" "g.6337251C>T" "0.013 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Trp88Ter" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843574" "1" "90" "17" "6329935" "6329935" "subst" "2.84986E-5" "00000" "AIPL1_000076" "g.6329935C>T" "0.003 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Gly262Ser" "" "Germline" "" "rs62637013" "0" "" "" "" "" "pathogenic" "" "0000843575" "2" "90" "17" "6331828" "6331828" "subst" "3.2624E-5" "00000" "AIPL1_000007" "g.6331828T>C" "0.003 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "c.277-2A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843576" "1" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "0.02 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Trp.278Ter" "" "Germline" "" "rs62637014" "0" "" "" "" "" "pathogenic" "" "0000843577" "2" "90" "17" "6337325" "6337325" "subst" "1.21921E-5" "00000" "AIPL1_000053" "g.6337325C>T" "0.003 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Gly64Arg" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843578" "0" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00000" "AIPL1_000036" "g.6329030C>A" "0.033 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Arg302Leu" "previously suggested to be disease-causing, but more likely to be benign. In this study two patients were homozygous and 4 heterozygous with no second mutationidentified. It was detected in the homozygous state in an unaffected parent of Indian descent whose affected children have LCA caused by a homozygous mutation in the gene RPGRIP1" "Germline" "" "rs62637015" "0" "" "" "" "" "VUS" "" "0000843579" "0" "50" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "0.016 in 153 patients; 0 in 96 controls" "{PMID:Tan 2012:22412862}" "" "p.Pro376Ser" "" "Germline" "" "rs61757484" "0" "" "" "" "" "VUS" "" "0000843580" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843581" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843582" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843583" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843584" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843585" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843586" "3" "90" "17" "6329946" "6329946" "subst" "1.22014E-5" "00000" "AIPL1_000158" "g.6329946C>G" "" "{PMID:Li 2014:24426771}" "" "c.773G>C (p.Arg258Pro)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843587" "3" "90" "17" "6331638" "6331638" "subst" "1.66091E-5" "00000" "AIPL1_000159" "g.6331638C>A" "" "{PMID:Li 2014:24426771}" "" "c.465G>T (p.(H93_Q155del))" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843588" "3" "90" "17" "6331638" "6331638" "subst" "1.66091E-5" "00000" "AIPL1_000159" "g.6331638C>A" "" "{PMID:Li 2014:24426771}" "" "c.465G>T (p.(H93_Q155del))" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843589" "3" "90" "17" "6329073" "6329073" "subst" "0" "00000" "AIPL1_000212" "g.6329073G>A" "" "{PMID:Gumus 2019:31342828}" "" "c.862 C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843590" "3" "90" "17" "6329073" "6329073" "subst" "0" "00000" "AIPL1_000212" "g.6329073G>A" "" "{PMID:Gumus 2019:31342828}" "" "c.862 C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843591" "3" "90" "17" "6329073" "6329073" "subst" "0" "00000" "AIPL1_000212" "g.6329073G>A" "" "{PMID:Gumus 2019:31342828}" "" "c.862 C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843592" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "Whole exome sequencing (WES)" "{PMID:Wan 2019:31576779}" "" "c.C241T:p.Gln81*" "" "Germline" "" "rs200125117" "0" "" "" "" "" "pathogenic" "" "0000843593" "3" "90" "17" "6331682" "6331682" "subst" "2.04501E-5" "00000" "AIPL1_000191" "g.6331682G>A" "Whole exome sequencing (WES)" "{PMID:Wan 2019:31576779}" "" "c.C241T:p.Gln81*" "" "Germline" "" "rs200125117" "0" "" "" "" "" "pathogenic" "" "0000843594" "3" "90" "17" "6337399" "6337399" "subst" "0" "00000" "AIPL1_000041" "g.6337399G>T" "" "Khaliq 2003" "" "c.116C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843595" "3" "90" "17" "6337249" "6337249" "subst" "0" "00000" "AIPL1_000181" "g.6337249C>T" "" "Wiszniewski 2011" "" "c.266G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843596" "1" "90" "17" "6331739" "6331739" "subst" "0" "00000" "AIPL1_000192" "g.6331739C>T" "" "Testa 2011" "" "c.364G>A" "rare hypomorphic allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843597" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Testa 2011" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843598" "3" "90" "17" "6331739" "6331739" "subst" "0" "00000" "AIPL1_000192" "g.6331739C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.364G>A" "rare hypomorphic allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843599" "1" "90" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.364G>C" "rare hypomorphic allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843600" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843601" "1" "90" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.364G>C" "rare hypomorphic allele" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843602" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843603" "1" "90" "17" "6330261" "6330261" "subst" "4.06072E-6" "00000" "AIPL1_000216" "g.6330261G>C" "" "Aboshiha 2015" "" "c.582C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843604" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Aboshiha 2015" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843605" "1" "90" "17" "6330053" "6330053" "subst" "0" "00000" "AIPL1_000214" "g.6330053C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.666G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843606" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843607" "1" "90" "17" "6329986" "6329986" "subst" "0" "00000" "AIPL1_000213" "g.6329986C>A" "" "Aboshiha 2015" "" "c.733G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843608" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Aboshiha 2015" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843609" "1" "90" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "Simonelli 2011" "" "c.809G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843610" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Simonelli 2011" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843611" "1" "90" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "Testa 2011" "" "c.809G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843612" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Testa 2011" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843613" "1" "90" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "Wiszniewski 2011" "" "c.809G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843614" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Wiszniewski 2011" "" "c.834G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843615" "3" "90" "17" "6329008" "6329009" "ins" "0" "00000" "AIPL1_000210" "g.6329008_6329009insAGCTCCCTGCGGTTCAGG" "" "Li 2011" "" "c.926_927insCCTGAACCGCAGGGAGCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843616" "1" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Sohocki 2000" "" "c.1126C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843617" "2" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "Sohocki 2000" "" "c.341C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843618" "1" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Dharmaraj 2004" "" "c.1126C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843619" "2" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "Dharmaraj 2004" "" "c.341C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843620" "1" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Dharmaraj 2004" "" "c.1126C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843621" "2" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "Dharmaraj 2004" "" "c.341C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843622" "1" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Walia 2010" "" "c.1126C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843623" "2" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "Walia 2010" "" "c.341C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843624" "1" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.1126C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843625" "2" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.341C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843626" "3" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.1126C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843627" "0" "90" "17" "6337358" "6337358" "subst" "3.65729E-5" "00000" "AIPL1_000218" "g.6337358G>A" "" "Li 2013" "" "c.157C>T; p.R53W" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843628" "0" "90" "17" "6337301" "6337301" "subst" "0" "00000" "AIPL1_000061" "g.6337301A>G" "" "Wiszniewski 2011" "" "c.214T>C; p.W72R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843629" "0" "10" "17" "6331713" "6331713" "subst" "0" "00000" "AIPL1_000071" "g.6331713G>T" "" "Aboshiha 2015" "" "c.390C>A; p.H130Q" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000843630" "0" "90" "17" "6330250" "6330250" "subst" "0" "00000" "AIPL1_000054" "g.6330250G>A" "" "Aboshiha 2015" "" "c.593C>T; p.S198F" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843631" "0" "90" "17" "6330226" "6330226" "subst" "0" "00000" "AIPL1_000215" "g.6330226A>T" "" "Li 2013" "" "c.617T>A; p.I206N" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843632" "0" "90" "17" "6329057" "6329057" "subst" "0" "00000" "AIPL1_000211" "g.6329057A>G" "" "Wiszniewski 2011" "" "c.878T>C, p.L293P" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843633" "0" "90" "17" "6329041" "6329041" "subst" "0" "00000" "AIPL1_000042" "g.6329041C>G" "" "Aboshiha 2015" "" "c.894G>C; p.Q298H" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843634" "0" "90" "17" "6328871" "6328882" "del" "0.000876871" "00000" "AIPL1_000161" "g.6328871_6328882del" "" "Sohocki 2000" "" "c.1053_1064delTGCAGAGCCACC; p.A352_P355del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843635" "0" "90" "17" "6328844" "6328844" "subst" "0" "00000" "AIPL1_000021" "g.6328844G>C" "" "Aboshiha 2015" "" "c.1091C>G; p.A364G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843636" "0" "90" "17" "6328838" "6328838" "subst" "0" "00000" "AIPL1_000022" "g.6328838G>C" "" "Aboshiha 2015" "" "c.1097C>G; p.P366R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843637" "0" "90" "17" "6328813" "6328824" "dup" "0" "00000" "AIPL1_000015" "g.6328813_6328824dup" "" "Wiszniewski 2011" "" "c.1103_1114dup; p.E369_T372dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843638" "0" "90" "17" "6328813" "6328824" "dup" "0" "00000" "AIPL1_000015" "g.6328813_6328824dup" "" "Ku 2015" "" "c.1111_1122dup; p.A371_P374dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843639" "0" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Wiszniewski 2011" "" "c.1126C>T; p.P376S" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843640" "20" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Testa 2011" "" "c.1126C>T; p.P376S" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843641" "20" "90" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "Testa 2011" "" "c.341C>T; p.T114I" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843642" "0" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Aboshiha 2015" "" "c.1126C>T; p.P376S" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843643" "0" "90" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Aboshiha 2015" "" "c.1126C>T; p.P376S" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000843746" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer-2005:16505055}" "" "c.834G>A" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000843747" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer-2005:16505055}" "" "c.834G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000843748" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Yzer-2005:16505055}" "" "c.834G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000844312" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.834G>A, p.W278X" "heterozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000844313" "0" "70" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.809G>A, p.R270H" "heterozygous" "Unknown" "?" "" "0" "" "" "g.6425806C>T" "" "likely pathogenic" "" "0000844322" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.834G>A, p.W278X" "homozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000844323" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.834G>A, p.W278X" "homozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000844324" "0" "70" "17" "6337249" "6337249" "subst" "0" "00000" "AIPL1_000181" "g.6337249C>T" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.266G>A, p.C89Y" "homozygous" "Unknown" "?" "" "0" "" "" "g.6433929C>T" "" "likely pathogenic" "" "0000844325" "0" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.834G>A, p.W278X" "single allele in a recessive disease; heterozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000844326" "0" "70" "17" "6328964" "6328964" "subst" "0.00391951" "00000" "AIPL1_000030" "g.6328964C>A" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.971G>T, p.R324L" "single allele in a recessive disease; heterozygous" "Unknown" "?" "" "0" "" "" "g.6425644C>A" "" "likely pathogenic" "" "0000844327" "0" "50" "17" "6329030" "6329030" "subst" "0.00259137" "00000" "AIPL1_000036" "g.6329030C>A" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.905G>T, p.R302L" "single allele in a recessive disease; heterozygous" "Unknown" "?" "" "0" "" "" "g.6425710C>A" "" "VUS" "" "0000844328" "0" "70" "17" "6328964" "6328964" "subst" "0.00391951" "00000" "AIPL1_000030" "g.6328964C>A" "" "{PMID:Wiszniewski 2011:21153841}" "" "AIPL1 c.971G>T, p.R324L" "single allele in a recessive disease; heterozygous" "Unknown" "?" "" "0" "" "" "g.6425644C>A" "" "likely pathogenic" "" "0000844396" "3" "70" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Pasadhika 2010:19959640}" "" "AIPL1 Trp278Stop" "no nucleotide written, extrapolated from protein and databases; c.833G>A also possible; homozygous" "Unknown" "?" "" "0" "" "" "g.6425781C>T" "" "likely pathogenic" "" "0000845364" "3" "90" "17" "6337399" "6337399" "subst" "0" "00000" "AIPL1_000041" "g.6337399G>T" "" "Roosing 2017" "" "c.116C>A; p.T39N" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845365" "3" "90" "17" "6337249" "6337249" "subst" "0" "00000" "AIPL1_000181" "g.6337249C>T" "" "Kaway 2017" "" "c.266G>A; p.C89Y" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845366" "3" "30" "17" "6331739" "6331739" "subst" "0" "00000" "AIPL1_000192" "g.6331739C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.364G>A; p.G122R" "probably rare hypomorphic allele; modulating, but not severely impacting AIPL1 function" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000845367" "1" "30" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.364G>C; p.G122R" "probably rare hypomorphic allele; modulating, but not severely impacting AIPL1 function" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000845368" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845369" "1" "30" "17" "6331739" "6331739" "subst" "4.0713E-6" "00000" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.364G>C; p.G122R" "probably rare hypomorphic allele; modulating, but not severely impacting AIPL1 function" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (!)" "" "0000845370" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845371" "1" "90" "17" "6330261" "6330261" "subst" "4.06072E-6" "00000" "AIPL1_000216" "g.6330261G>C" "" "Kumaran 2018" "" "c.582C>G; p.Y194X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845372" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Kumaran 2018" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845373" "1" "90" "17" "6330053" "6330053" "subst" "0" "00000" "AIPL1_000214" "g.6330053C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.666G>A; p.W222X" "" "Germline" "no" "" "0" "" "" "" "" "pathogenic" "" "0000845374" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845375" "1" "90" "17" "6329986" "6329986" "subst" "0" "00000" "AIPL1_000213" "g.6329986C>A" "" "Kumaran 2018" "" "c.733G>T; p.E245X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845376" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Kumaran 2018" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845377" "1" "90" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "Zernant 2018" "" "c.809G>A; p.R270H" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845378" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Zernant 2018" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845379" "1" "90" "17" "6329126" "6329126" "subst" "0" "00000" "AIPL1_000040" "g.6329126C>T" "" "Kaway 2017" "" "c.809G>A; p.R270H" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845380" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "Kaway 2017" "" "c.834G>A; p.W278X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845381" "3" "90" "17" "6329008" "6329009" "ins" "0" "00000" "AIPL1_000210" "g.6329008_6329009insAGCTCCCTGCGGTTCAGG" "" "Simonelli 2007" "" "c.926_927ins CCTGAACCGCAGGGAGCT; p.E309DinsLNRREL" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845382" "1" "30" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "Linnert 2013" "" "c.1126C>T; p.P376S" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000845383" "2" "50" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "Linnert 2013" "" "c.341C>T; p.T114I" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000845384" "1" "10" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.1126C>T; p.P376S" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000845385" "2" "50" "17" "6331762" "6331762" "subst" "0.00397687" "00000" "AIPL1_000075" "g.6331762G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.341C>T; p.T114I" "Authors suggest c.1126C>T (p.P376S) and c.341C>T (p.T114I) are a common haplotype" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000845386" "3" "10" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.1126C>T; p.P376S" "" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000845387" "0" "30" "17" "6328871" "6328882" "del" "0.000876871" "00000" "AIPL1_000161" "g.6328871_6328882del" "" "Sohocki 2000" "" "c.1053_1064del TGCAGAGCCACC; p.A352_P355del" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000845388" "0" "10" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.1126C>T; p.P376S" "unknown variant 2nd chromosome" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000845389" "0" "10" "17" "6328809" "6328809" "subst" "0.00455374" "00000" "AIPL1_000069" "g.6328809G>A" "" "{PMID:Sacristan Reviriego 2020:33067476}" "" "c.1126C>T; p.P376S" "unknown variant 2nd chromosome" "Germline" "no" "" "0" "" "" "" "" "benign" "" "0000855063" "0" "30" "17" "6331752" "6331752" "subst" "5.69583E-5" "01943" "AIPL1_000221" "g.6331752G>A" "" "" "" "AIPL1(NM_014336.4):c.351C>T (p.H117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865442" "0" "30" "17" "6329946" "6329946" "subst" "9.7611E-5" "01943" "AIPL1_000219" "g.6329946C>T" "" "" "" "AIPL1(NM_014336.4):c.773G>A (p.R258Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865443" "0" "50" "17" "6330281" "6330281" "subst" "4.06075E-5" "02327" "AIPL1_000220" "g.6330281G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865444" "0" "70" "17" "6337250" "6337250" "subst" "0" "02327" "AIPL1_000062" "g.6337250A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894197" "0" "30" "17" "6330291" "6330291" "subst" "0" "02330" "AIPL1_000222" "g.6330291C>T" "" "" "" "AIPL1(NM_014336.5):c.552G>A (p.E184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894198" "0" "10" "17" "6330327" "6330327" "subst" "0.00234303" "02327" "AIPL1_000064" "g.6330327A>G" "" "" "" "AIPL1(NM_014336.4):c.516T>C (p.H172=), AIPL1(NM_014336.5):c.516T>C (p.H172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894199" "0" "10" "17" "6337404" "6337404" "subst" "0.0209874" "02327" "AIPL1_000033" "g.6337404G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000905909" "0" "90" "17" "6331828" "6331828" "subst" "3.2624E-5" "00000" "AIPL1_000007" "g.6331828T>C" "" "{PMID:Zhu 2022:35456422}" "" "AIPL1 c.277-2A>G, p.?" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.6428508T>C" "" "pathogenic" "ACMG" "0000905910" "0" "50" "17" "6330290" "6330290" "subst" "0" "00000" "AIPL1_000223" "g.6330290C>T" "" "{PMID:Zhu 2022:35456422}" "" "AIPL1 c.553G>A, p.(Gly185Arg)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.6426970C>T" "" "VUS" "ACMG" "0000905922" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00000" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Zhu 2022:35456422}" "" "AIPL1 c.834G>A, p.(Trp278*)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "ACMG" "0000905923" "0" "70" "17" "6329935" "6329935" "subst" "2.84986E-5" "00000" "AIPL1_000076" "g.6329935C>T" "" "{PMID:Zhu 2022:35456422}" "" "AIPL1 c.784G>A, p.(Gly262Ser)" "compound heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.6426615C>T" "" "likely pathogenic" "ACMG" "0000916072" "3" "90" "17" "6330008" "6330008" "subst" "0" "04436" "AIPL1_000225" "g.6330008G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.711C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916086" "3" "90" "17" "6331739" "6331739" "subst" "4.0713E-6" "04436" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.364G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916155" "1" "90" "17" "6331739" "6331739" "subst" "4.0713E-6" "04436" "AIPL1_000038" "g.6331739C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.364G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916156" "2" "90" "17" "6329101" "6329101" "subst" "0.000331766" "04436" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.834G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916403" "0" "70" "17" "6329933" "6329933" "subst" "0" "04436" "AIPL1_000224" "g.6329933A>T" "" "{PMID:Panneman 2023:36819107}" "" "c.784+2T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916695" "3" "70" "17" "6337304" "6337304" "subst" "4.06464E-6" "04436" "AIPL1_000055" "g.6337304C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.211G>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000958138" "3" "70" "17" "6328926" "6328927" "del" "0" "00006" "AIPL1_000039" "g.6328926_6328927del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.6425606_6425607del" "" "likely pathogenic (recessive)" "ACMG" "0000969179" "0" "30" "17" "6330313" "6330313" "subst" "8.12156E-6" "02330" "AIPL1_000226" "g.6330313G>A" "" "" "" "AIPL1(NM_001285402.2):c.413C>T (p.A138V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987317" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00006" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.6425781C>T" "" "pathogenic" "ACMG" "0001003579" "0" "50" "17" "6328860" "6328860" "subst" "6.94155E-5" "01804" "AIPL1_000227" "g.6328860A>G" "" "" "" "AIPL1(NM_014336.3):c.1075T>C (p.(Ser359Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003580" "0" "30" "17" "6329914" "6329914" "subst" "0.000351952" "01804" "AIPL1_000228" "g.6329914C>T" "" "" "" "AIPL1(NM_001285403.2):c.781G>A (p.(Gly261Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003581" "0" "50" "17" "6329931" "6329931" "subst" "1.63115E-5" "01804" "AIPL1_000229" "g.6329931G>A" "" "" "" "AIPL1(NM_001285403.2):c.764C>T (p.(Ala255Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003582" "0" "50" "17" "6330363" "6330366" "del" "0" "01804" "AIPL1_000174" "g.6330363_6330366del" "" "" "" "AIPL1(NM_014336.3):c.479_482delGTGA (p.(Ser160fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003583" "0" "30" "17" "6331702" "6331702" "subst" "0.00403492" "01804" "AIPL1_000071" "g.6331702T>A" "" "" "" "AIPL1(NM_014336.3):c.401A>T (p.(Tyr134Phe)), AIPL1(NM_014336.4):c.401A>T (p.Y134F), AIPL1(NM_014336.5):c.401A>T (p.Y134F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003584" "0" "30" "17" "6331711" "6331711" "subst" "0" "01804" "AIPL1_000230" "g.6331711G>T" "" "" "" "AIPL1(NM_014336.3):c.392C>A (p.(Thr131Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015604" "0" "30" "17" "6330061" "6330061" "subst" "3.2509E-5" "02327" "AIPL1_000231" "g.6330061C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022283" "3" "90" "17" "6329101" "6329101" "subst" "0.000331766" "00006" "AIPL1_000010" "g.6329101C>T" "" "{PMID:Midgley 2024:39676705}" "" "" "" "Germline" "" "rs62637014" "0" "" "" "g.6425781C>T" "" "pathogenic" "" "0001042093" "0" "90" "17" "6329101" "6329101" "subst" "0.000331766" "01804" "AIPL1_000010" "g.6329101C>T" "" "" "" "AIPL1(NM_014336.5):c.834G>A (p.W278*, p.(Trp278Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042094" "0" "50" "17" "6337417" "6337417" "subst" "0.000505866" "01804" "AIPL1_000232" "g.6337417A>G" "" "" "" "AIPL1(NM_014336.5):c.98T>C (p.(Val33Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055792" "0" "50" "17" "6328907" "6328907" "subst" "4.07113E-5" "01804" "AIPL1_000162" "g.6328907G>A" "" "" "" "AIPL1(NM_014336.4):c.1028C>T (p.P343L), AIPL1(NM_014336.5):c.1028C>T (p.P343L, p.(Pro343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055793" "0" "50" "17" "6331822" "6331822" "subst" "3.66946E-5" "01804" "AIPL1_000233" "g.6331822G>A" "" "" "" "AIPL1(NM_014336.5):c.281C>T (p.(Thr94Met))" "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 AIPL1 ## Count = 831 "{{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}}" "0000059104" "00002285" "10" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059105" "00002285" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059106" "00002285" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059107" "00002285" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059108" "00002285" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059109" "00002285" "90" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059110" "00002285" "90" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059111" "00002285" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059112" "00002285" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059113" "00002285" "10" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059114" "00002285" "10" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "3" "0000059115" "00002285" "70" "932" "0" "932" "0" "c.932G>C" "r.(?)" "p.(Arg311Pro)" "6" "0000059116" "00002285" "70" "932" "0" "932" "0" "c.932G>T" "r.(?)" "p.(Arg311Leu)" "6" "0000059117" "00002285" "50" "937" "0" "937" "0" "c.937C>A" "r.(?)" "p.(Ala313Ser)" "6" "0000059118" "00002285" "30" "-106" "0" "-106" "0" "c.-106C>A" "r.(?)" "p.(=)" "1i" "0000059119" "00002285" "30" "-106" "0" "-106" "0" "c.-106C>A" "r.(?)" "p.(=)" "1i" "0000059120" "00002285" "70" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "6" "0000059121" "00002285" "70" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "6" "0000059122" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059123" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059124" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059125" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059126" "00002285" "90" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059127" "00002285" "50" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059128" "00002285" "50" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059129" "00002285" "50" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059130" "00002285" "50" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059131" "00002285" "90" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059132" "00002285" "90" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059133" "00002285" "90" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000059134" "00002285" "70" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Asn230Ser)" "5" "0000059135" "00002285" "70" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Asn230Ser)" "5" "0000059136" "00002285" "70" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Glu282*)" "6" "0000059137" "00002285" "70" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Glu282*)" "6" "0000059138" "00002285" "70" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Glu282*)" "6" "0000059139" "00002285" "70" "844" "0" "844" "0" "c.844C>A" "r.(?)" "p.(Glu282*)" "6" "0000059140" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "3" "0000059141" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "3" "0000059142" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059143" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059144" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059145" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "3" "0000059146" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059147" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059148" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059149" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059150" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059151" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059152" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059153" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059154" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059155" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059156" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059157" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059158" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059159" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059160" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059161" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059162" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059163" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059164" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059165" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059166" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059167" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059168" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059169" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059170" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059171" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059172" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059173" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059174" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059175" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059176" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059177" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059178" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059179" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059180" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059181" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059182" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059183" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059184" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059185" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059186" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059187" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059188" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059189" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059190" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059191" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059192" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059193" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059194" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059195" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059196" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059197" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059198" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059199" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059200" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059201" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059202" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059203" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059204" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059205" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059206" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059207" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059208" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059209" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059210" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059211" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059212" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059213" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059214" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059215" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059216" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059217" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059218" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059219" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059220" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059221" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059222" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059223" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059224" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059225" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059226" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059227" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059228" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059229" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000059230" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" 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"p.(Glu83Lys)" "2" "0000059276" "00002285" "90" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "2" "0000059277" "00002285" "70" "1111" "0" "1122" "0" "c.1111_1122dup" "r.(?)" "p.(Ala371_Pro374dup)" "6" "0000059278" "00002285" "70" "1111" "0" "1122" "0" "c.1111_1122dup" "r.(?)" "p.(Ala371_Pro374dup)" "6" "0000059279" "00002285" "30" "1110" "0" "1110" "0" "c.1110A>T" "r.(?)" "p.(=)" "6" "0000059280" "00002285" "30" "1110" "0" "1110" "0" "c.1110A>T" "r.(?)" "p.(=)" "6" "0000059281" "00002285" "30" "277" "-10" "277" "-10" "c.277-10A>G" "r.(?)" "p.(=)" "2i" "0000059282" "00002285" "30" "277" "-10" "277" "-10" "c.277-10A>G" "r.(?)" "p.(=)" "2i" "0000059283" "00002285" "30" "277" "-10" "277" "-10" "c.277-10A>G" "r.(?)" "p.(=)" "2i" "0000059285" "00002285" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000059286" "00002285" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000059287" "00002285" "90" "642" "0" "642" "0" "c.642G>C" "r.(?)" 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"p.(=)" "2i" "0000059511" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059512" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059513" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059514" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059515" "00002285" "50" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059516" "00002285" "50" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059517" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059518" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "2" "0000059519" "00002285" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(=)" "2" "0000059520" "00002285" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(=)" "2" "0000059521" "00002285" "10" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(=)" "2" "0000059522" "00002285" "10" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(=)" "2" "0000059523" "00002285" "30" "466" "-2" "466" "-2" "c.466-2A>G" "r.spl" "p.?" "3i" "0000059524" "00002285" "30" "466" "-2" "466" "-2" "c.466-2A>G" "r.spl" "p.?" "3i" "0000059525" "00002285" "30" "466" "-26" "466" "-26" "c.466-26T>C" "r.(?)" "p.(=)" "3i" "0000059526" "00002285" "30" "466" "-26" "466" "-26" "c.466-26T>C" "r.(?)" "p.(=)" "3i" "0000066244" "00002285" "50" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "6" "0000090070" "00002285" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "3" "0000130223" "00002285" "70" "178" "0" "178" "0" "c.178dup" "r.(?)" "p.(His60Profs*98)" "" "0000158326" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "5" "0000162812" "00002285" "90" "465" "0" "465" "0" "c.465G>T" "r.spl?" "p.(Gln155His)" "3" "0000247451" "00002285" "10" "516" "0" "516" "0" "c.516T>C" "r.(?)" "p.(His172=)" "" "0000247467" "00002285" "30" "146" "0" "146" "0" "c.146T>C" "r.(?)" "p.(Ile49Thr)" "" "0000257464" "00002285" "50" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Ala336Thr)" "" "0000257465" "00002285" "50" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Pro343Leu)" "" "0000257466" "00002285" "10" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Ala364Thr)" "" "0000257467" "00002285" "10" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "" "0000257468" "00002285" "30" "134" "0" "134" "0" "c.134A>G" "r.(?)" "p.(Glu45Gly)" "" "0000257469" "00002285" "10" "140" "0" "140" "0" "c.140C>G" "r.(?)" "p.(Thr47Arg)" "" "0000257470" "00002285" "30" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(His82Tyr)" "" "0000257471" "00002285" "10" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Cys89=)" "" "0000257472" "00002285" "10" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Arg209=)" "" "0000257473" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000257474" "00002285" "30" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000257475" "00002285" "10" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Ala313Ser)" "" "0000257476" "00002285" "30" "97" "-15" "97" "-15" "c.97-15C>T" "r.(=)" "p.(=)" "" "0000257477" "00002285" "10" "97" "-9" "97" "-9" "c.97-9G>A" "r.(=)" "p.(=)" "" "0000259006" "00002285" "10" "651" "0" "651" "0" "c.651A>G" "r.(?)" "p.(Pro217=)" "" "0000262144" "00002285" "50" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Pro343Leu)" "" "0000262146" "00002285" "30" "140" "0" "140" "0" "c.140C>G" "r.(?)" "p.(Thr47Arg)" "" "0000262147" "00002285" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Cys89=)" "" "0000262148" "00002285" "50" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Arg102Gln)" "" "0000262149" "00002285" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(His260=)" "" "0000262150" "00002285" "30" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000262151" "00002285" "30" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Ala313Ser)" "" "0000262152" "00002285" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Cys)" "" "0000262153" "00002285" "30" "97" "-9" "97" "-9" "c.97-9G>A" "r.(=)" "p.(=)" "" "0000336343" "00002285" "10" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "5" "0000338562" "00002285" "10" "784" "18" "784" "18" "c.784+18G>A" "r.(=)" "p.(=)" "" "0000338563" "00002285" "10" "277" "-10" "277" "-10" "c.277-10A>C" "r.(=)" "p.(=)" "" "0000340352" "00002285" "10" "651" "0" "651" "0" "c.651A>G" "r.(?)" "p.(Pro217=)" "" "0000342582" "00002285" "30" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000346838" "00002285" "10" "300" "0" "300" "0" "c.300A>G" "r.(?)" "p.(Leu100=)" "" "0000358165" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000358166" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "2" "0000438658" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000562742" "00002285" "30" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Pro375Leu)" "" "0000562743" "00002285" "30" "1108" "0" "1108" "0" "c.1108C>T" "r.(?)" "p.(Pro370Ser)" "" "0000562744" "00002285" "30" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Ala336Thr)" "" "0000562745" "00002285" "10" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "0000562746" "00002285" "50" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "0000562747" "00002285" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Cys)" "" "0000562748" "00002285" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Lys299Arg)" "" "0000562749" "00002285" "10" "765" "0" "765" "0" "c.765T>C" "r.(?)" "p.(Asp255=)" "" "0000562750" "00002285" "10" "642" "14" "642" "14" "c.642+14G>A" "r.(=)" "p.(=)" "" "0000562751" "00002285" "10" "516" "0" "516" "0" "c.516T>C" "r.(?)" "p.(His172=)" "" "0000562752" "00002285" "30" "401" "0" "401" "0" "c.401A>T" "r.(?)" "p.(Tyr134Phe)" "" "0000562753" "00002285" "50" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "" "0000562754" "00002285" "50" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "" "0000562756" "00002285" "10" "268" "0" "268" "0" "c.268G>C" "r.(?)" "p.(Asp90His)" "" "0000562757" "00002285" "50" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "" "0000562758" "00002285" "10" "-17" "0" "-17" "0" "c.-17C>A" "r.(?)" "p.(=)" "" "0000616760" "00002285" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(His260=)" "" "0000616761" "00002285" "30" "420" "0" "420" "0" "c.420G>A" "r.(?)" "p.(Leu140=)" "" "0000616762" "00002285" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Ser78=)" "" "0000623738" "00002285" "50" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "" "0000649678" "00002285" "30" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000669413" "00002285" "30" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000680975" "00002285" "30" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "" "0000684409" "00002285" "70" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Leu257Phe)" "5" "0000684432" "00002285" "70" "767" "0" "767" "0" "c.767T>G" "r.(?)" "p.(Ile256Ser)" "5" "0000684489" "00002285" "70" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "" "0000684490" "00002285" "70" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "" "0000684616" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000684996" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000684997" "00002285" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Trp72*)" "" "0000684998" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000684999" "00002285" "90" "99" "0" "99" "0" "c.99del" "r.(?)" "p.(Ile34Serfs*7)" "" "0000692436" "00002285" "50" "401" "0" "401" "0" "c.401A>T" "r.(?)" "p.(Tyr134Phe)" "" "0000704003" "00002285" "70" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Thr39Asn)" "2" "0000710219" "00002285" "90" "547" "0" "547" "0" "c.547G>T" "r.(?)" "p.(Gly183*)" "" "0000711797" "00002285" "90" "1053" "0" "1064" "0" "c.1053_1064del" "r.(?)" "p.(Glu351_Ser355delinsAsp)" "6" "0000711798" "00002285" "90" "1053" "0" "1064" "0" "c.1053_1064del" "r.(?)" "p.(Glu351_Ser355delinsAsp)" "6" "0000711799" "00002285" "90" "1010" "0" "1011" "0" "c.1010_1011del" "r.(?)" "p.(Glu337Alafs*70)" "6" "0000711800" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000711801" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000711802" "00002285" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000711829" "00002285" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000711830" "00002285" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(=)" "3" "0000711831" "00002285" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000711832" "00002285" "30" "268" "0" "268" "0" "c.268G>C" "r.(?)" "p.(Asp90His)" "3" "0000711833" "00002285" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000711834" "00002285" "30" "516" "0" "516" "0" "c.516T>C" "r.(?)" "p.(=)" "4" "0000711835" "00002285" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000711836" "00002285" "30" "765" "0" "765" "0" "c.765T>C" "r.(?)" "p.(=)" "6" "0000713609" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000730980" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000731033" "00002285" "70" "404" "0" "404" "0" "c.404dup" "r.(?)" "p.(Asp136Glyfs*22)" "" "0000731270" "00002285" "70" "356" "0" "359" "0" "c.356_359del" "r.(?)" "p.(His119Argfs*31)" "" "0000731271" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000731292" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000731293" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "" "0000731432" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000733166" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "" "0000733604" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000736079" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000736126" "00002285" "70" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Gly122Arg)" "" "0000736369" "00002285" "10" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Met)" "3" "0000736395" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(Trp278*)" "6" "0000736396" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(Trp278*)" "6" "0000736397" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(Trp278*)" "6" "0000759820" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000759821" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000759822" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000759823" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000759856" "00002285" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000759857" "00002285" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000760002" "00002285" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(His82Tyr)" "" "0000760199" "00002285" "70" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Cys89Arg)" "" "0000760223" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000760352" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000765763" "00002285" "70" "178" "0" "178" "0" "c.178dup" "r.(?)" "p.(His60ProfsTer98)" "" "0000765779" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000765789" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000765847" "00002285" "70" "178" "0" "178" "0" "c.178dup" "r.(?)" "p.(His60ProfsTer98)" "" "0000766031" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000766032" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000766033" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000766034" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000766035" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000766036" "00002285" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "" "0000783253" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000783254" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000783271" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "6" "0000783272" "00002285" "90" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "2" "0000783274" "00002285" "90" "613" "0" "622" "0" "c.613_622delATCATCTGC" "r.(?)" "p.(Ile205Ter)" "4" "0000783798" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000783799" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000783800" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000783875" "00002285" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000783876" "00002285" "50" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Asp51Gly)" "" "0000783882" "00002285" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000783903" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000783967" "00002285" "50" "572" "0" "572" "0" "c.572T>C" "r.(?)" "p.(Leu191Pro)" "" "0000783968" "00002285" "50" "733" "0" "735" "0" "c.733_735del" "r.(?)" "p.(Glu245del)" "" "0000783972" "00002285" "50" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Gln109Ter)" "" "0000785453" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000785454" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0000787684" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141Ter)" "" "0000790468" "00002285" "50" "140" "0" "140" "0" "c.140C>G" "r.(?)" "p.(Thr47Arg)" "" "0000790469" "00002285" "50" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Ala313Ser)" "" "0000790489" "00002285" "50" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "0000790585" "00002285" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Val96Ile)" "" "0000790595" "00002285" "50" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000791154" "00002285" "50" "737" "0" "737" "0" "c.737A>C" "r.(?)" "p.(Tyr246Ser)" "5" "0000791155" "00002285" "50" "737" "0" "737" "0" "c.737A>C" "r.(?)" "p.(Tyr246Ser)" "5" "0000791156" "00002285" "50" "737" "0" "737" "0" "c.737A>C" "r.(?)" "p.(Tyr246Ser)" "5" "0000791225" "00002285" "50" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Met297Thr)" "6" "0000791605" "00002285" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Gly95Glu)" "3" "0000792160" "00002285" "90" "926" "0" "927" "0" "c.926_927ins18bp" "r.(?)" "p.?" "" "0000792161" "00002285" "90" "926" "0" "927" "0" "c.926_927ins18bp" "r.(?)" "p.?" "" "0000794280" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "3" "0000794957" "00002285" "50" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(Trp278*)" "6" "0000795059" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000795964" "00002285" "30" "616" "0" "616" "0" "c.616A>G" "r.(?)" "p.(Ile206Val)" "5" "0000796048" "00002285" "90" "268" "0" "268" "0" "c.268G>C" "r.(?)" "p.(Asp90His)" "3" "0000796141" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000796186" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000796187" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000796188" "00002285" "90" "547" "0" "547" "0" "c.547G>T" "r.?" "p.(Gly183*)" "4" "0000796189" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000796190" "00002285" "90" "547" "0" "547" "0" "c.547G>T" "r.?" "p.(Gly183*)" "4" "0000796191" "00002285" "90" "487" "0" "487" "0" "c.487C>T" "r.?" "p.(Gln163*)" "4" "0000796192" "00002285" "90" "265" "0" "265" "0" "c.265T>C" "r.?" "p.(Cys89Arg)" "3" "0000796193" "00002285" "90" "214" "0" "214" "0" "c.214T>C" "r.?" "p.(Trp72Arg)" "3" "0000796665" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000796685" "00002285" "70" "401" "0" "401" "0" "c.401A>T" "r.(?)" "p.(Tyr134Phe)" "4" "0000796686" "00002285" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "6" "0000796768" "00002285" "90" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000796867" "00002285" "70" "401" "0" "401" "0" "c.401A>T" "r.(?)" "p.(Tyr134Phe)" "4" "0000797171" "00002285" "50" "857" "0" "857" "0" "c.857A>T" "r.(?)" "p.(Asp286Val)" "" "0000797172" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000797197" "00002285" "50" "276" "6" "276" "6" "c.276+6T>C" "r.spl?" "p.(?)" "" "0000797512" "00002285" "90" "815" "0" "815" "0" "c.815G>C" "r.(?)" "p.(Arg272Pro)" "" "0000797513" "00002285" "70" "-1" "0" "276" "1" "c.(?_-1)_(276+1_277-1)del" "r.(?)" "p.(?)" "" "0000797514" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000797515" "00002285" "50" "465" "0" "465" "0" "c.465G>T" "r.spl" "p.(Gln155His)" "" "0000797930" "00002285" "50" "733" "0" "735" "0" "c.733_735del" "r.(?)" "p.(Glu245del)" "" "0000808212" "00002285" "30" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Arg209=)" "" "0000808213" "00002285" "30" "86" "0" "86" "0" "c.86C>A" "r.(?)" "p.(Thr29Asn)" "" "0000811832" "00002285" "70" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Asp51Gly)" "" "0000812087" "00002285" "70" "112" "0" "112" "0" "c.112del" "r.(?)" "p.(Arg38Alafs*3)" "2" "0000812480" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000813628" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813631" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813632" "00002285" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Cys)" "" "0000813648" "00002285" "70" "406" "0" "406" "0" "c.406G>T" "r.(?)" "p.(Asp136Tyr)" "" "0000813651" "00002285" "90" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Asp51Gly)" "" "0000813658" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813683" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813706" "00002285" "90" "642" "0" "642" "0" "c.642G>C" "r.(?)" "p.(Lys214Asn)" "" "0000813722" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813729" "00002285" "90" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Glu304*)" "" "0000813737" "00002285" "90" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Asp51Gly)" "" "0000813744" "00002285" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000813746" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813776" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000813789" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "" "0000815287" "00002285" "50" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "0000815375" "00002285" "90" "97" "0" "104" "0" "c.97_104dup" "r.(?)" "p.(Phe35Leufs*2)" "" "0000815376" "00002285" "90" "97" "0" "104" "0" "c.97_104dup" "r.(?)" "p.(Phe35Leufs*2)" "" "0000816143" "00002285" "50" "844" "0" "849" "0" "c.844_849dup" "r.(?)" "p.(Glu282_Ala283dup)" "" "0000816454" "00002285" "50" "844" "0" "849" "0" "c.844_849dup" "r.(?)" "p.(Glu282_Ala283dup)" "" "0000819326" "00002285" "70" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Val12Glyfs*32)" "" "0000819560" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000819597" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000819683" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000820096" "00002285" "70" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "" "0000820156" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000820157" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000820616" "00002285" "70" "238" "0" "238" "0" "c.238C>T" "r.(?)" "p.(Arg80Trp)" "" "0000820828" "00002285" "70" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "" "0000820829" "00002285" "70" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "" "0000821152" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000822932" "00002285" "70" "404" "0" "404" "0" "c.404dup" "r.(?)" "p.(Asp136Glyfs*22)" "" "0000822974" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000823311" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000823464" "00002285" "50" "727" "0" "729" "0" "c.727_729del" "r.(?)" "p.(Lys243del)" "" "0000825851" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "4" "0000826094" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "4" "0000826095" "00002285" "70" "364" "0" "364" "0" "c.364G>A" "r.?" "p.(Gly122Arg)" "3" "0000826201" "00002285" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "4" "0000826202" "00002285" "70" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(Glu51Gly)" "2" "0000843529" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843530" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843531" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843532" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843533" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843534" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843535" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843536" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843537" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843538" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843539" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843540" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843541" "00002285" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(His82Tyr)" "3" "0000843542" "00002285" "10" "286" "0" "286" "0" "c.286G>C" "r.(?)" "p.(Val96Leu)" "3" "0000843543" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000843544" "00002285" "70" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000843545" "00002285" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.Val33fs" "" "0000843546" "00002285" "70" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Trp72*)" "3" "0000843547" "00002285" "70" "214" "0" "214" "0" "c.214T>C" "r.(?)" "p.Trp72Arg" "3" "0000843548" "00002285" "70" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "3" "0000843549" "00002285" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Gly262Ser)" "6" "0000843550" "00002285" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Gly262Ser)" "6" "0000843551" "00002285" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.Leu241del" "" "0000843552" "00002285" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.Leu241del" "" "0000843553" "00002285" "70" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000843554" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843555" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843556" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843557" "00002285" "70" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "3" "0000843558" "00002285" "70" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Cys89Arg)" "3" "0000843559" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843560" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843561" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843562" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843563" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843564" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843565" "00002285" "70" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000843566" "00002285" "70" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" "1" "0000843567" "00002285" "70" "642" "0" "642" "0" "c.642G>Y" "r.(?)" "p.(Lys214Asn)" "5" "0000843568" "00002285" "70" "642" "0" "642" "0" "c.642G>Y" "r.(?)" "p.(Lys214Asn)" "5" "0000843569" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843570" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843571" "00002285" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "4" "0000843572" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "3" "0000843573" "00002285" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "3" "0000843574" "00002285" "90" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Gly262Ser)" "6" "0000843575" "00002285" "90" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "2i" "0000843576" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843577" "00002285" "90" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "2" "0000843578" "00002285" "50" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "6" "0000843579" "00002285" "50" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843580" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843581" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843582" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843583" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843584" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843585" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843586" "00002285" "90" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Arg258Pro)" "6" "0000843587" "00002285" "90" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Gln155His)" "4" "0000843588" "00002285" "90" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Gln155His)" "4" "0000843589" "00002285" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288*)" "6" "0000843590" "00002285" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288*)" "6" "0000843591" "00002285" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Gln288*)" "6" "0000843592" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "4" "0000843593" "00002285" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Gln141*)" "4" "0000843594" "00002285" "90" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Thr39Asn)" "2" "0000843595" "00002285" "90" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "3" "0000843596" "00002285" "90" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Gly122Arg)" "3" "0000843597" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843598" "00002285" "90" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Gly122Arg)" "3" "0000843599" "00002285" "90" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000843600" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843601" "00002285" "90" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000843602" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843603" "00002285" "90" "582" "0" "582" "0" "c.582C>G" "r.(?)" "p.(Tyr194*)" "5" "0000843604" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843605" "00002285" "90" "666" "0" "666" "0" "c.666G>A" "r.(?)" "p.(Trp222*)" "5" "0000843606" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843607" "00002285" "90" "733" "0" "733" "0" "c.733G>T" "r.(?)" "p.(Glu245*)" "6" "0000843608" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843609" "00002285" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "6" "0000843610" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843611" "00002285" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "6" "0000843612" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843613" "00002285" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "6" "0000843614" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "6" "0000843615" "00002285" "90" "926" "0" "927" "0" "c.926_927insCCTGAACCGCAGGGAGCT" "r.(?)" "p.(Glu309delinsAspLeuAsnArgArgGluLeu)" "6" "0000843616" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843617" "00002285" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000843618" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843619" "00002285" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000843620" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843621" "00002285" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000843622" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843623" "00002285" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000843624" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843625" "00002285" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000843626" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843627" "00002285" "90" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Trp)" "2" "0000843628" "00002285" "90" "214" "0" "214" "0" "c.214T>C" "r.(?)" "p.(Trp72Arg)" "3" "0000843629" "00002285" "10" "390" "0" "390" "0" "c.390C>A" "r.(?)" "p.(His130Gln)" "3" "0000843630" "00002285" "90" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ser198Phe)" "5" "0000843631" "00002285" "90" "617" "0" "617" "0" "c.617T>A" "r.(?)" "p.(Ile206Asn)" "5" "0000843632" "00002285" "90" "878" "0" "878" "0" "c.878T>C" "r.(?)" "p.(Leu293Pro)" "6" "0000843633" "00002285" "90" "894" "0" "894" "0" "c.894G>C" "r.(?)" "p.(Gln298His)" "6" "0000843634" "00002285" "90" "1053" "0" "1064" "0" "c.1053_1064del" "r.(?)" "p.(Ala352_Pro355del)" "6" "0000843635" "00002285" "90" "1091" "0" "1091" "0" "c.1091C>G" "r.(?)" "p.(Ala364Gly)" "6" "0000843636" "00002285" "90" "1097" "0" "1097" "0" "c.1097C>G" "r.(?)" "p.(Pro366Arg)" "6" "0000843637" "00002285" "90" "1111" "0" "1122" "0" "c.1111_1122dup" "r.(?)" "p.(Ala371_Pro374dup)" "6" "0000843638" "00002285" "90" "1111" "0" "1122" "0" "c.1111_1122dup" "r.(?)" "p.(Ala371_Pro374dup)" "6" "0000843639" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843640" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843641" "00002285" "90" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000843642" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843643" "00002285" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000843746" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000843747" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000843748" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000844312" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000844313" "00002285" "70" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "" "0000844322" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000844323" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000844324" "00002285" "70" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "" "0000844325" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000844326" "00002285" "70" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "0000844327" "00002285" "50" "905" "0" "905" "0" "c.905G>T" "r.(?)" "p.(Arg302Leu)" "" "0000844328" "00002285" "70" "971" "0" "971" "0" "c.971G>T" "r.(?)" "p.(Arg324Leu)" "" "0000844396" "00002285" "70" "834" "0" "834" "0" "c.834G>A" "r.spl" "p.(Trp278Ter)" "" "0000845364" "00002285" "90" "116" "0" "116" "0" "c.116C>A" "r.(?)" "p.(Thr39Asn)" "2" "0000845365" "00002285" "90" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Cys89Tyr)" "3" "0000845366" "00002285" "30" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Gly122Arg)" "3" "0000845367" "00002285" "30" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000845368" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845369" "00002285" "30" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000845370" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845371" "00002285" "90" "582" "0" "582" "0" "c.582C>G" "r.(?)" "p.(Tyr194*)" "5" "0000845372" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845373" "00002285" "90" "666" "0" "666" "0" "c.666G>A" "r.(=)" "p.(=)" "5" "0000845374" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845375" "00002285" "90" "733" "0" "733" "0" "c.733G>T" "r.(?)" "p.(Glu245*)" "6" "0000845376" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845377" "00002285" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "6" "0000845378" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845379" "00002285" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270His)" "6" "0000845380" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(=)" "6" "0000845381" "00002285" "90" "926" "0" "927" "0" "c.926_927insCCTGAACCGCAGGGAGCT" "r.(?)" "p.(Ala309_Thr310insLeuAsnArgArgGluLeu)" "6" "0000845382" "00002285" "30" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000845383" "00002285" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000845384" "00002285" "10" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000845385" "00002285" "50" "341" "0" "341" "0" "c.341C>T" "r.(?)" "p.(Thr114Ile)" "3" "0000845386" "00002285" "10" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000845387" "00002285" "30" "1053" "0" "1064" "0" "c.1053_1064del" "r.(?)" "p.(Glu351_Ser355delinsAsp)" "6" "0000845388" "00002285" "10" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000845389" "00002285" "10" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Pro376Ser)" "6" "0000855063" "00002285" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(His117=)" "" "0000865442" "00002285" "30" "773" "0" "773" "0" "c.773G>A" "r.(?)" "p.(Arg258Gln)" "" "0000865443" "00002285" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Leu188Phe)" "" "0000865444" "00002285" "70" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Cys89Arg)" "" "0000894197" "00002285" "30" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(Glu184=)" "" "0000894198" "00002285" "10" "516" "0" "516" "0" "c.516T>C" "r.(?)" "p.(His172=)" "" "0000894199" "00002285" "10" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Phe37=)" "" "0000905909" "00002285" "90" "277" "-2" "277" "-2" "c.277-2A>G" "r.spl" "p.?" "" "0000905910" "00002285" "50" "553" "0" "553" "0" "c.553G>A" "r.(?)" "p.(Gly185Arg)" "" "0000905922" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278*)" "" "0000905923" "00002285" "70" "784" "0" "784" "0" "c.784G>A" "r.(?)" "p.(Gly262Ser)" "" "0000916072" "00002285" "90" "711" "0" "711" "0" "c.711C>A" "r.(?)" "p.(Cys237*)" "5" "0000916086" "00002285" "90" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000916155" "00002285" "90" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Gly122Arg)" "3" "0000916156" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(=)" "p.(Trp278*)" "6" "0000916403" "00002285" "70" "784" "2" "784" "2" "c.784+2T>A" "r.spl?" "p.(?)" "6" "0000916695" "00002285" "70" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" "3" "0000958138" "00002285" "70" "1010" "0" "1011" "0" "c.1010_1011del" "r.(?)" "p.(Glu337AlafsTer70)" "" "0000969179" "00002285" "30" "530" "0" "530" "0" "c.530C>T" "r.(?)" "p.(Ala177Val)" "" "0000987317" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0001003579" "00002285" "50" "1075" "0" "1075" "0" "c.1075T>C" "r.(?)" "p.(Ser359Pro)" "" "0001003580" "00002285" "30" "784" "21" "784" "21" "c.784+21G>A" "r.(=)" "p.(=)" "" "0001003581" "00002285" "50" "784" "4" "784" "4" "c.784+4C>T" "r.spl?" "p.?" "" "0001003582" "00002285" "50" "479" "0" "482" "0" "c.479_482del" "r.(?)" "p.(Ser160IlefsTer9)" "" "0001003583" "00002285" "30" "401" "0" "401" "0" "c.401A>T" "r.(?)" "p.(Tyr134Phe)" "" "0001003584" "00002285" "30" "392" "0" "392" "0" "c.392C>A" "r.(?)" "p.(Thr131Lys)" "" "0001015604" "00002285" "30" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Val220Met)" "" "0001022283" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0001042093" "00002285" "90" "834" "0" "834" "0" "c.834G>A" "r.(?)" "p.(Trp278Ter)" "" "0001042094" "00002285" "50" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Val33Ala)" "" "0001055792" "00002285" "50" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Pro343Leu)" "" "0001055793" "00002285" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Thr94Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 746 "{{screeningid}}" "{{variantid}}" "0000033208" "0000059117" "0000033220" "0000059115" "0000033227" "0000059104" "0000033229" "0000059116" "0000033448" "0000059118" "0000033448" "0000059119" "0000033449" "0000059122" "0000033450" "0000059123" "0000033451" "0000059124" "0000033451" "0000059140" "0000033452" "0000059125" "0000033452" "0000059141" "0000033453" "0000059105" "0000033453" "0000059106" "0000033454" "0000059277" "0000033454" "0000059278" "0000033455" "0000059281" "0000033456" "0000059285" "0000033456" "0000059287" "0000033457" "0000059286" "0000033457" "0000059288" "0000033458" "0000059293" "0000033458" "0000059294" "0000033459" "0000059297" "0000033459" "0000059300" "0000033460" "0000059298" "0000033460" "0000059301" "0000033461" "0000059306" "0000033461" "0000059307" "0000033462" "0000059310" "0000033462" "0000059311" "0000033463" "0000059314" "0000033463" "0000059315" 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