### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SSBP1) # 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}}" "SSBP1" "single-stranded DNA binding protein 1, mitochondrial" "7" "q34" "unknown" "NC_000007.13" "UD_136062921304" "" "https://www.LOVD.nl/SSBP1" "" "1" "11317" "6742" "600439" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SSBP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-13 11:04:42" "00006" "2023-11-24 13:10:43" ## 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}}" "00020333" "SSBP1" "transcript variant 5" "005" "NM_003143.2" "" "NP_003134.1" "" "" "" "-133" "581" "447" "141438121" "141450288" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50" "05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SSBP1" "04293" "SSBP1" "05684" ## Individuals ## Do not remove or alter this header ## ## Count = 68 "{{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}}" "00380092" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0183" "00417328" "" "" "" "2" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 2 (Pt 2) from Family 1: 3-generation family, 2 affected father and son" "M" "no" "Italy" "" "0" "" "" "" "Family1/Pt 2" "00417851" "" "" "00417328" "1" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 1 (Pt 1) from Family 1: 3-generation family, 2 affected father and son" "M" "no" "Italy" "" "" "" "" "" "Family 1/Pt 1" "00417856" "" "" "" "1" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 3 (Pt 3) from Family 2: 3-generation family, 1 affected." "F" "no" "United States" "" "" "" "" "" "Family 2/Pt 3" "00418311" "" "" "" "1" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 4 (Pt 4) from Family 3: 2-generation family, 1 affected." "M" "no" "Italy" "" "" "" "" "" "Family 3/Pt 4" "00418312" "" "" "" "3" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 5 (Pt 5) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death." "M" "no" "Italy" "" "" "" "" "" "Family 4/Pt 5" "00418313" "" "" "00418312" "1" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 6 (Pt 6) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death" "M" "no" "Italy" "" "" "" "" "" "Family 4/Pt 6" "00418314" "" "" "00418312" "1" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 7 (Pt 7) from Family 4: 3-generation family, 3 affected father and son/daughter, 1 death" "F" "no" "Italy" "" "" "" "" "" "Family 4/ Pt 7" "00418367" "" "" "" "1" "" "04310" "{PMID:Del Doto 2019:31550240}" "Patient 8 (Pt 8) from Family 5: 2-generation family, 1 affected (Pt 8), 1 death" "M" "no" "Austria" "" "" "" "" "" "Family 5/ Pt 8" "00418643" "" "" "" "1" "" "04310" "{PMID:Gustafson 2019:31479473}" "" "M" "no" "China" "" "" "" "" "" "Family 1/Pt 1" "00418649" "" "" "" "3" "" "04310" "{PMID:Jurkute 2021:34905022}" "Patient III:3 from Family 1: 3-generation family, 3 affected father, son and daughter." "M" "no" "" "" "" "" "" "" "Family 1/individual III:3" "00418681" "" "" "00418649" "1" "" "04310" "{PMID:Jurkute 2021:34905022}" "Patient III:2 from Family 1: 3-generation family, 3 affected father, son and daughter." "F" "no" "" "" "" "" "" "" "Family 1/individual III:2" "00418719" "" "" "00418649" "1" "" "04310" "{PMID:Jurkute 2021:34905022}" "Patient II:3 from Family 1: 3-generation family, 3 affected father, son and daughter." "M" "no" "" "" "" "" "" "" "Family 1/ individual II:3" "00418753" "" "" "" "1" "" "04310" "{PMID:Jurkute 2021:34905022}" "Patient IV:1 from Family 2: 4-generation family, 3 affected great-grandmother, mother and daughter, 3 deaths" "F" "no" "Nigeria" "" "" "" "" "" "Family 2/ Individual IV:1" "00418754" "" "" "" "1" "" "04310" "{PMID:Jurkute 2021:34905022}" "{PMID:Jurkute 2021:34905022}" "M" "no" "" "" "" "" "" "" "family 3/ Individual III:3" "00418755" "" "" "" "1" "" "04310" "{PMID:Jurkute 2021:34905022}" "Individual III:5 from Family 4: 4-generation family, 1 affected : son, 6 deaths." "M" "no" "" "" "" "" "" "" "Family 4/ Individual III:5" "00418756" "" "" "" "1" "" "04310" "{PMID:Jurkute 2021:34905022}" "Individual II:4 from Family 5: 3-generation family, 1 affected father, 4 deaths." "M" "no" "" "" "" "" "" "" "Family 5/ individual II:4" "00418764" "" "" "" "28" "" "04310" "{PMID:Piro 2020:31550237}" "Patient (Pt) V:9 from Family A: 7-generation family, 28 affected.\r\nNOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data." "M" "no" "France" "" "0" "" "" "" "Family A/ Pt V:9" "00418765" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:14 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:14" "00418766" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:15 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:15" "00418767" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) IV:6 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt IV:6" "00418786" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:13 from Family A: 7-generation family, 28 affected.\r\nNOTE: Information on this patient, including phenotypes, has been updated from that originally published with the authors’ agreement and after reworking of the original data." "M" "no" "France" "" "0" "" "" "" "Family A/ Pt V:13" "00418787" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:28 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt V:28" "00418788" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:41 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt V:41" "00418789" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:8 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VI:8" "00418790" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:19 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:19" "00418791" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:20 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:20" "00418792" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}" "Patient (Pt) VI:34 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VI:34" "00418793" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}" "Patient (Pt) VI:35 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VI:35" "00418794" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}" "Patient (Pt) VII:3 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VII:3" "00418795" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:3 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt V:3" "00418796" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:11 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt V:11" "00418797" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:39 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt V:39" "00418799" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) V:47 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt V:47" "00418800" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:4 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VI:4" "00418801" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:17 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:17" "00418802" "" "" "00418764" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient (Pt) VI:21 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:21" "00418803" "" "" "00418764" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient (Pt) VI:24 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:24" "00418808" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:25 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VI:25" "00418809" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}" "Patient (Pt) VI:38 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VI:38" "00418810" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VII:1 from Family A: 7-generation family, 28 affected." "M" "no" "France" "" "" "" "" "" "Family A/ Pt VII:1" "00418811" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VII:8 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt VII:8" "00419680" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) IV:17 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/ Pt IV:17" "00419682" "" "" "00418764" "1" "" "04310" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "Patient (Pt) VI:24 from Family A: 7-generation family, 28 affected." "F" "no" "France" "" "" "" "" "" "Family A/Pt V:42" "00419684" "" "" "" "4" "" "04310" "{PMID:Piro 2020:31550237}" "Patient III:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter." "F" "no" "Germany" "" "" "" "" "" "Family B/Pt III:1" "00419727" "" "" "00419684" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter." "M" "?" "Germany" "" "" "" "" "" "Family B/Pt I:1" "00419728" "" "" "00419684" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient II:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter." "M" "no" "Germany" "" "" "" "" "" "Family B/Pt II:1" "00419729" "" "" "00419684" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient I:1 from Family B: 3-generation family, 4 affected grandfather, father, and 2 daughter." "F" "no" "Germany" "" "" "" "" "" "Family B/Pt III:2" "00419730" "" "" "" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient (Pt) I from Family C: 2-generation family 1 affected." "M" "no" "Germany" "" "" "" "" "" "Family c/Pt I" "00419731" "" "" "" "2" "" "04310" "{PMID:Piro 2020:31550237}" "Patient (Pt) I from Family D: 4-generation family 5 affected, great grandfather, grandmother, \r\ngreat-uncle, mother and son" "F" "no" "Germany" "" "" "" "" "" "Family D/Pt 1" "00419909" "" "" "" "1" "" "04310" "{PMID:Piro 2020:31550237}" "Patient (Pt) I from Family E: 2-generation family 1 affected, daughter." "F" "" "Germany" "" "" "" "" "" "Family E/Pt I" "00419910" "" "" "" "3" "" "04310" "{PMID:Jun 2022:35946466}" "Patient (Pt) III:1 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son" "M" "no" "Korea" "" "" "" "" "" "Family 1/Pt III:1" "00419912" "" "" "00419910" "1" "" "04310" "{PMID:Jun 2022:35946466}" "Patient (Pt) II:4 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son." "F" "no" "Korea" "" "" "" "" "" "Family 1/ individual II:4" "00419913" "" "" "00419910" "1" "" "04310" "{PMID:Jun 2022:35946466}" "Patient (Pt) III:2 from Family 1: 3-generation family 4 affected, grandfather, mother, uncle, daughter and son" "F" "no" "Korea" "" "" "" "" "" "Family 1/ individual III:2" "00419914" "" "" "" "11" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) III:8 from Family 1: 5-generation family, 23 affected." "M" "no" "" "" "" "" "" "" "Family 1/Pt III:8" "00419915" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) III:16 from Family 1: 5-generation family, 23 affected." "M" "no" "" "" "" "" "" "" "Family 1/Pt III:16" "00419916" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected." "F" "no" "" "" "" "" "" "" "Family 1/Pt IV:3" "00419917" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) IV:3 from Family 1: 5-generation family, 23 affected." "M" "no" "" "" "" "" "" "" "Family 1/Pt IV:7" "00419918" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) IV:8 from Family 1: 5-generation family, 23 affected." "F" "no" "" "" "" "" "" "" "Family 1/Pt IV:8" "00419919" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) IV:12 from Family 1: 5-generation family, 23 affected." "F" "no" "" "" "" "" "" "" "Family 1/Pt IV:12" "00419920" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "" "F" "no" "" "" "" "" "" "" "Family 1/Pt IV:14" "00419921" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) IV:18 from Family 1: 5-generation family, 23 affected." "F" "no" "" "" "" "" "" "" "Family 1/Pt IV:18" "00419922" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) V:2 from Family 1: 5-generation family, 23 affected." "F" "no" "" "" "" "" "" "" "Family 1/Pt V:2" "00419923" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) V:5 from Family 1: 5-generation family, 23 affected." "M" "no" "" "" "" "" "" "" "Family 1/Pt V:5" "00419924" "" "" "00419914" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient (Pt) V:12 from Family 1: 5-generation family, 23 affected." "M" "no" "" "" "" "" "" "" "Family 1/Pt IV:12" "00419925" "" "" "" "5" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient II:2 (Pt II:2) from Family 2: 3-generation family, 3 affected, 2 deaths." "M" "?" "" "" "" "" "" "" "Family 2/Pt II:2" "00419926" "" "" "00419925" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient III:1 (Pt III:1) from Family 2: 3-generation family, 3 affected, 2 deaths." "M" "no" "" "" "" "" "" "" "Family 2/Pt III:1" "00419927" "" "" "00419925" "1" "" "04310" "{PMID:Jurkute 2019:31298765}" "Patient III:4 (Pt III:4) from Family 2: 3-generation family, 3 affected, 2 deaths." "M" "no" "" "" "" "" "" "" "Family 2/Pt III:4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 68 "{{individualid}}" "{{diseaseid}}" "00380092" "04293" "00417328" "05684" "00417851" "05684" "00417856" "05684" "00418311" "05684" "00418312" "05684" "00418313" "05684" "00418314" "05684" "00418367" "05684" "00418643" "05684" "00418649" "05684" "00418681" "05684" "00418719" "05684" "00418753" "05684" "00418754" "05684" "00418755" "05684" "00418756" "05684" "00418764" "05684" "00418765" "05684" "00418766" "05684" "00418767" "05684" "00418786" "05684" "00418787" "05684" "00418788" "05684" "00418789" "05684" "00418790" "05684" "00418791" "05684" "00418792" "05684" "00418793" "05684" "00418794" "05684" "00418795" "05684" "00418796" "05684" "00418797" "05684" "00418799" "05684" "00418800" "05684" "00418801" "05684" "00418802" "05684" "00418803" "05684" "00418808" "05684" "00418809" "05684" "00418810" "05684" "00418811" "05684" "00419680" "05684" "00419682" "05684" "00419684" "05684" "00419727" "05684" "00419728" "05684" "00419729" "05684" "00419730" "05684" "00419731" "05684" "00419909" "05684" "00419910" "05684" "00419912" "05684" "00419913" "05684" "00419914" "05684" "00419915" "05684" "00419916" "05684" "00419917" "05684" "00419918" "05684" "00419919" "05684" "00419920" "05684" "00419921" "05684" "00419922" "05684" "00419923" "05684" "00419924" "05684" "00419925" "05684" "00419926" "05684" "00419927" "05684" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04293, 05684 ## Count = 69 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "0000273947" "04293" "00380092" "03508" "Familial, autosomal dominant" "" "Very low visual acuity (HP:0032122); Photophobia (HP:0000613); Large central visual field defect (HP:0001129); Color vision defect (HP:0000551); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "atrophy, optic (OPA)" "" "" "0000308816" "05684" "00417328" "04310" "Familial, autosomal dominant" "21y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Myoclonic jerks (HP:0001336); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Nephropathy (HP:0000112); Vomiting (HP:0002013); Divergent strabismus (HP:0020049); Nystagmus (HP:0000639); Reduced tendon reflex (HP:0001315); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Exercise-induced lactic acidemia (HP:0004901); Visual field defect (HP:0001123); chronic kidney disease (HP:0012622); Growth retardation (HP:0001510)" "00y07m" "" "" "" "" "" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309224" "05684" "00417851" "04310" "Familial, autosomal dominant" "51y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Nephropathy (HP:0000112); Stabismus (HP:0000486); Reduced tendon reflex (HP:0001315); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Abnormal globus pallidus morphology (HP:0002453); Hyperintensity of cerebral white matter on MRI (HP:0030890); Opto-chiasma atrophy (HP:0034008); Visual field defect (HP:0001123); Exercise-induced lactic acidemia (HP:0004901); Abnormal foveal morphology (HP:0000493); Liver steatosis (HP:0001397)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309229" "05684" "00417856" "04310" "Isolated (sporadic)" "23y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Sensorineural hearing impairment (HP:0000407); Nephropathy (HP:0000112); Retinal degeneration (HP:0000546) ; nystagmus (HP0000639) ; Relative afferent pupillary defect (HP:0200057) ; Optic disc pallor (HP:0000543) ; Dull foveal reflex (HP:0007750) ; Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); chronic kidney disease (HP:0012622); Tinnitus (HP:0000360); Abnormal heart valve morphology (HP:0001654); left systolic ventricular systolic dysfunction (HP:0029169); headaches (HP:0002315); Slowed slurred speech (HP:0007164); Impaired tandem gait (HP:0031629)" "00y18m" "" "" "" "" "" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309678" "05684" "00418311" "04310" "Isolated (sporadic)" "76y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138) ; Color vision defect (HP:0000551) ; Temporal optic disc pallor (HP:0012511) ; macular pucker (HP:0100014) ; Retinal pigment epithelial atrophy (HP:0007722); Stroke (HP:0001297); Reduced visual acuity (HP:0007663)" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309679" "05684" "00418312" "04310" "Isolated (sporadic)" "57y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Color vision defect (HP:0000551); Optic disc pallor (HP:0000543); Macular dystrophy (HP:0007754); Progressive visual loss (HP:0000529)" "<18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309680" "05684" "00418313" "04310" "Familial, autosomal dominant" "22y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); poor visual acuity (HP:0007663); Color vision defect (HP:0000551); Optic disc pallor (HP:0000543); Macular dystrophy (HP:0007754); Hypercalcemia (HP:0003072)" "<18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309681" "05684" "00418314" "04310" "Familial, autosomal dominant" "16y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Progressive visual loss (HP:0000529); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Macular dystrophy (HP:0007754); Abnormality of the kidney (HP:0000077)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309735" "05684" "00418367" "04310" "Unknown" "30y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Nephropathy (HP:0000112); Retinal degeneration (HP:0000546); Deafness (H:000365); Ataxia (HP:0001251); Hypertrophic Cardiomyopathy (HP:0001639); Growth retardation (HP:0001510); Scoliosis (HP:0002650); Migraine (HP:0002076); Abnormality of cognition (HP:0100543)" "<04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309977" "05684" "00418643" "04310" "Isolated (sporadic)" "14y" "Delayed speech (0000750); Anemia (HP:0001903); Bone marrow failure (HP: 0005528); Growth failure (HP0001510) ; Ataxia (HP:0001251); Failure to thrive (HP:0001508); Lacticacidemia (HP:0003128); Chronic kidney disease (HP: 0012622); Rod-cone dystrophy (HP:0000510); Sensorineural hearing loss (HP:0000407); Ptosis (HP:0000508); Ophthalmoplegia (HP:0000602); Grorwth hormone deficiency (HP:O000824); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal electroretinogram (HP:0000512); Abnormal thalamic MRI signal intensity (HP:0012696); Cerebral atrophy (HP:0002059)" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309979" "05684" "00418649" "04310" "Familial, autosomal dominant" "?" "Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Abnormal rod and cone electroretinogram (HP:0008323); Delayed speech and language development (HP:000750); Specific learning disability (HP:0001328); intention tremor (HP:0002080); Vertigo (HP:0002321); Fainting spell 5HP:0001279); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Retinal pigment epithelial atrophy (HP:0007722); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Retinal dystrophy (HP:0000556); memory impairment (HP:0002354); Dysesthesia (HP:0012534)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000309981" "05684" "00418681" "04310" "Familial, autosomal dominant" "26y" "Severely reduced visual acuity (HP:0001141); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Muscle fatigue (HP:0003750); Fatigable weakness (HP :0003473); Vertigo (HP:0002321); Nausea (HP:0002018); Dysesthesia (HP:0012534); Orthostatic tachycardia (HP :0012173); Attenuation of retinal blood vessels (HP:0007843); Dull foveal reflex (HP:0007750); Abnormal retinal nerve fiber layer morphology (HP:0020119); Abnormality of visual evoked potentials (HP:0000649); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Undetectable visual evoked potentials (HP:0007965); Macular dystrophy (HP:0007754); Migraine (HP:0002076); Anemia (HP:0001903); Asthma (HP:0002099); Anxiety (HP:0000739)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310047" "05684" "00418719" "04310" "Isolated (sporadic)" "46y" "Abnormal pattern electroretinogram (HP:0030467); Optic atrophy (HP:0000648); Myopia (HP:0000545); Reduced visual acuity (HP:0007663)" "<18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310049" "05684" "00418753" "04310" "Familial, autosomal dominant" "?" "Retinal pigment epithelial atrophy (HP :0007722); Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Rod-cone dystrophy (HP:0000510); Abnormal rod and cone electroretinogram (HP:0008323) ; Abnormal pattern electroretinogram (HP:0030467); Macular dystrophy (HP:0007754); Optic atrophy (HP:0000648); Myopia (HP:0000545); Perifoveal ring of hyperautofluorescence (HP:0030629); Reduced visual acuity (HP:0007663)" "18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310050" "05684" "00418754" "04310" "Isolated (sporadic)" "16y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Attenuation of retinal blood vessels (HP:0007843); Rod-cone dystrophy (HP:0000510); Retinal dystrophy (HP:0000556); Myopia (HP:0000545); Scoliosis (HP:0002650) ; Febrile convulsion (HP:0002373); Optic neuropathy (HP:0001138); Abnormality of visual evoked potentials (HP:0000649); Abnormal pattern electroretinogram (HP:0030467); Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Global development delay (HP:0001263)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310051" "05684" "00418755" "04310" "Isolated (sporadic)" "?" "Optic atrophy (HP:0000648); Retinal dystrophy (HP:0000556); Attenuation of retinal blood vessels (HP:0007843); Myopia (HP:0000545); Cataract (HP:0000518); Sensorineural hearing loss (HP:0000407); Poor coordination (HP:0002370); Coeliac disease (HP:0002608); Delayed speech and language development (HP:0000750); Reduced visual acuity (HP:0007663)" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310052" "05684" "00418756" "04310" "Unknown" "?" "Nyctalopia (HP:0000662); Retinal dystrophy (HP:0000556); Retinal pigment epithelial atrophy (HP:0007722); Photoreceptor layer loss on macular OCT (HP:0030609); Reduced visual acuity (HP:0007663)" "59y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310060" "05684" "00418764" "04310" "Familial, autosomal dominant" "51y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Color vision defect (HP:0000551); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310061" "05684" "00418765" "04310" "Familial, autosomal dominant" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310062" "05684" "00418766" "04310" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310065" "05684" "00418767" "04310" "Familial, autosomal dominant" "83y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Retinopathy (HP:0000488); temporal optic disc pallor (HP:0012511); Macular Drusen (HP:0030499)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310083" "05684" "00418786" "04310" "Familial, autosomal dominant" "46y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of visual evoked potentials (HP:0000649); Dyschromatopsia (HP:0007641); Red-green dyschromatopsia (HP:0000642)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310084" "05684" "00418787" "04310" "Familial, autosomal dominant" "45y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663)" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310085" "05684" "00418788" "04310" "Familial, autosomal dominant" "67y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Type 2 diabetes mellitus (HP:0005978); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310086" "05684" "00418789" "04310" "Familial, autosomal dominant" "36y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551)" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310087" "05684" "00418790" "04310" "Familial, autosomal dominant" "12y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310088" "05684" "00418791" "04310" "Familial, autosomal dominant" "10y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); temporal optic disc pallor (HP:0012511)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310089" "05684" "00418792" "04310" "Familial, autosomal dominant" "45y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310090" "05684" "00418793" "04310" "Familial, autosomal dominant" "28y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310091" "05684" "00418794" "04310" "Familial, autosomal dominant" "13y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138);" "10y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310092" "05684" "00418795" "04310" "Familial, autosomal dominant" "68y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Dyschromatopsia (HP:0007641); Visual field defect (HP:0001123); Hypercalcemia (HP:0003072); Sleep apnea (HP:0010535); Intestinal polyp (HP:0005266); Raynaud disease (HP:0030880); Ventricular arrhythmia (HP:0004308); Right bundle branch block (HP:0011712); Osteopenia (HP:0000938); Venous insufficiency (HP:0005293); Bowel irritability (HP:0033628)" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310093" "05684" "00418796" "04310" "Familial, autosomal dominant" "53y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); \r\nAbnormal electroretinogram (HP:0000512)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310094" "05684" "00418796" "04310" "Familial, autosomal dominant" "06y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310095" "05684" "00418797" "04310" "Familial, autosomal dominant" "72y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310096" "05684" "00418799" "04310" "Familial, autosomal dominant" "60y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663)" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310097" "05684" "00418800" "04310" "Familial, autosomal dominant" "48y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310098" "05684" "00418801" "04310" "Familial, autosomal dominant" "" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "" "" "" "" "" "" "25y" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310099" "05684" "00418802" "04310" "Familial, autosomal dominant" "30y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "29y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310100" "05684" "00418803" "04310" "Familial, autosomal dominant" "11y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Color vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "02y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310105" "05684" "00418808" "04310" "Familial, autosomal dominant" "14y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310106" "05684" "00418809" "04310" "Familial, autosomal dominant" "28y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663)" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310107" "05684" "00418810" "04310" "Familial, autosomal dominant" "08y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310108" "05684" "00418811" "04310" "Familial, autosomal dominant" "11y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Temporal optic disc pallor (HP:0012511); Reduced visual acuity (HP:0007663)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310961" "05684" "00419680" "04310" "Familial, autosomal dominant" "70y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Reduced visual acuity (HP:0007663); Abnormality of visual evoked potentials (HP:0000649); Dyschromatopsia (HP:0007641); Abnormal multifocal electroretinogram (HP:0030468); Large central visual field defect (HP:0001129); Deafness (HP:0000365); Abnormal mitral valve morphology (HP:0001633); Abnormality of equilibrium (HP:0002141); Abnormal macular morphology (HP:0001103); Photophobia (HP:0000613); Pontocerebellar atrophy (HP:0006879); Hypercholesterolemia (HP:0003124)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310962" "05684" "00419682" "04310" "Familial, autosomal dominant" "69y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Rod-cone dystrophy (HP:0000510); Reduced visual acuity (HP:0007663)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000310964" "05684" "00419684" "04310" "Familial" "18y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663)" "06y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311007" "05684" "00419727" "04310" "Unknown" "?" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311008" "05684" "00419728" "04310" "Familial, autosomal dominant" "?" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311009" "05684" "00419729" "04310" "Familial, autosomal dominant" "15y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Abnormal macular morphology (HP:0001103); Reduced visual acuity (HP:0007663)" "" "" "" "" "" "" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311010" "05684" "00419730" "04310" "Isolated (sporadic)" "" "Optic atrophy (HP:0000648) ; Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663)" "" "" "" "" "" "" "28y" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311011" "05684" "00419731" "04310" "Familial, autosomal dominant" "48y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Colour vision defect (HP:0000551)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311178" "05684" "00419909" "04310" "Isolated (sporadic)" "34y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311179" "05684" "00419910" "04310" "Familial, autosomal dominant" "36y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Colour vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "<18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311181" "05684" "00419912" "04310" "Unknown" "57y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Colour vision defect (HP:0000551); Reduced visual acuity (HP:0007663)" "<18y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311182" "05684" "00419913" "04310" "Familial, autosomal dominant" "33y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311183" "05684" "00419914" "04310" "Familial, autosomal dominant" "64y" "Abnormality of retinal pigmentation (HP:0007703); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Nephropathy (HP:0000112); Reduced visual acuity (HP:0007663)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311184" "05684" "00419915" "04310" "Familial, autosomal dominant" "44y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Attenuation of retinal blood vessels (HP:0007843); Reduced visual acuity (HP:0007663)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311185" "05684" "00419916" "04310" "Familial, autosomal dominant" "25y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Nephropathy (HP:0000112); Reduced visual acuity (HP:0007663)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311186" "05684" "00419917" "04310" "Familial, autosomal dominant" "25y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663)" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311187" "05684" "00419918" "04310" "Familial, autosomal dominant" "27y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663)" "04y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311188" "05684" "00419919" "04310" "Familial, autosomal dominant" "55y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); abnormal rod and cone electroretinogram (HP:0008323); Abnormal electroretinogram (HP:0000512); Undetectable visual evoked potentials (HP:0007965); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311189" "05684" "00419920" "04310" "Familial, autosomal dominant" "54y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Undetectable visual evoked potentials (HP:0007965) ; Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311190" "05684" "00419921" "04310" "Familial, autosomal dominant" "48y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703)" "01y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311191" "05684" "00419922" "04310" "Familial, autosomal dominant" "18y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311192" "05684" "00419923" "04310" "Familial, autosomal dominant" "26y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); abnormal rod and cone electroretinogram (HP:0008323); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843); Abnormality of retinal pigmentation (HP:0007703); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Abnormality of visual evoked potentials (HP:0000649)" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311193" "05684" "00419924" "04310" "Familial, autosomal dominant" "18y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormal electroretinogram (HP:0000512)); Abnormal P50/N95 ratio of pattern electroretinogram (HP:0030487); Abnormality of visual evoked potentials (HP:0000649); Attenuation of retinal blood vessels (HP:0007843); Color vision defect (HP:0000551)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311194" "05684" "00419925" "04310" "Unknown" "46y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311195" "05684" "00419926" "04310" "Familial, autosomal dominant" "07y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Color vision defect (HP:0000551)" "07y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000311196" "05684" "00419927" "04310" "Familial, autosomal dominant" "19y" "Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663); Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551)" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 68 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000381295" "00380092" "1" "03508" "03508" "2021-08-10 09:21:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000418620" "00417328" "1" "04310" "04310" "2022-09-15 15:07:22" "" "" "SEQ-NG" "DNA" "" "" "0000419146" "00417851" "1" "04310" "04310" "2022-09-26 15:21:07" "" "" "SEQ-NG" "DNA" "" "" "0000419151" "00417856" "1" "04310" "04310" "2022-09-26 19:30:35" "" "" "SEQ-NG" "DNA" "" "" "0000419606" "00418311" "1" "04310" "04310" "2022-09-27 17:47:14" "" "" "SEQ-NG" "DNA" "" "" "0000419607" "00418312" "1" "04310" "04310" "2022-09-27 18:28:25" "" "" "SEQ-NG" "DNA" "" "" "0000419608" "00418313" "1" "04310" "04310" "2022-09-27 20:05:36" "" "" "SEQ-NG" "DNA" "" "" "0000419609" "00418314" "1" "04310" "04310" "2022-09-27 20:18:53" "" "" "SEQ-NG" "DNA" "" "" "0000419662" "00418367" "1" "04310" "04310" "2022-09-29 10:27:34" "" "" "SEQ-NG" "DNA" "" "" "0000419941" "00418643" "1" "04310" "04310" "2022-10-03 15:32:03" "" "" "SEQ-NG" "DNA" "" "" "0000419974" "00418649" "1" "04310" "04310" "2022-10-03 16:27:59" "" "" "SEQ-NG" "DNA" "" "" "0000419976" "00418681" "1" "04310" "04310" "2022-10-03 17:14:42" "" "" "SEQ-NG" "DNA" "" "" "0000420048" "00418719" "1" "04310" "04310" "2022-10-05 11:38:12" "" "" "SEQ-NG" "DNA" "" "" "0000420050" "00418753" "1" "04310" "04310" "2022-10-05 15:19:37" "" "" "SEQ-NG" "DNA" "" "" "0000420052" "00418754" "1" "04310" "04310" "2022-10-05 17:00:08" "" "" "SEQ-NG" "DNA" "" "" "0000420053" "00418755" "1" "04310" "04310" "2022-10-05 17:42:54" "" "" "SEQ-NG" "DNA" "" "" "0000420054" "00418756" "1" "04310" "04310" "2022-10-05 18:02:47" "" "" "SEQ-NG" "DNA" "" "" "0000420062" "00418764" "1" "04310" "04310" "2022-10-06 11:22:06" "" "" "SEQ-NG" "DNA" "" "" "0000420063" "00418765" "1" "04310" "04310" "2022-10-06 11:35:54" "" "" "SEQ-NG" "DNA" "" "" "0000420064" "00418766" "1" "04310" "04310" "2022-10-06 11:41:29" "" "" "SEQ-NG" "DNA" "" "" "0000420067" "00418767" "1" "04310" "04310" "2022-10-06 12:01:00" "" "" "SEQ-NG" "DNA" "" "" "0000420084" "00418786" "1" "04310" "04310" "2022-10-06 18:08:44" "" "" "SEQ-NG" "DNA" "" "" "0000420085" "00418787" "1" "04310" "04310" "2022-10-06 18:36:08" "" "" "SEQ-NG" "DNA" "" "" "0000420086" "00418788" "1" "04310" "04310" "2022-10-07 09:14:36" "" "" "SEQ-NG" "DNA" "" "" "0000420087" "00418789" "1" "04310" "04310" "2022-10-07 09:21:40" "" "" "SEQ-ON" "DNA" "" "" "0000420088" "00418790" "1" "04310" "04310" "2022-10-07 09:26:36" "" "" "SEQ-ON" "DNA" "" "" "0000420089" "00418791" "1" "04310" "04310" "2022-10-07 09:32:21" "" "" "SEQ-NG" "DNA" "" "" "0000420090" "00418792" "1" "04310" "04310" "2022-10-07 09:43:42" "" "" "SEQ-NG" "DNA" "" "" "0000420091" "00418793" "1" "04310" "04310" "2022-10-07 09:49:53" "" "" "SEQ-NG" "DNA" "" "" "0000420092" "00418794" "1" "04310" "04310" "2022-10-07 09:59:59" "" "" "SEQ-NG" "DNA" "" "" "0000420093" "00418795" "1" "04310" "04310" "2022-10-07 10:09:56" "" "" "SEQ-NG" "DNA" "" "" "0000420094" "00418796" "1" "04310" "04310" "2022-10-07 10:21:34" "" "" "SEQ-NG" "DNA" "" "" "0000420095" "00418797" "1" "04310" "04310" "2022-10-07 10:27:03" "" "" "SEQ-NG" "DNA" "" "" "0000420096" "00418799" "1" "04310" "04310" "2022-10-07 10:32:14" "" "" "SEQ-NG" "DNA" "" "" "0000420097" "00418800" "1" "04310" "04310" "2022-10-07 10:50:50" "" "" "SEQ-NG" "DNA" "" "" "0000420098" "00418801" "1" "04310" "04310" "2022-10-07 10:57:27" "" "" "SEQ-NG" "DNA" "" "" "0000420099" "00418802" "1" "04310" "04310" "2022-10-07 11:07:09" "" "" "SEQ-NG" "DNA" "" "" "0000420100" "00418803" "1" "04310" "04310" "2022-10-07 11:18:42" "" "" "SEQ-NG" "DNA" "" "" "0000420105" "00418808" "1" "04310" "04310" "2022-10-07 11:29:30" "" "" "SEQ-NG" "DNA" "" "" "0000420106" "00418809" "1" "04310" "04310" "2022-10-07 11:40:46" "" "" "SEQ-NG" "DNA" "" "" "0000420107" "00418810" "1" "04310" "04310" "2022-10-07 11:51:50" "" "" "SEQ-NG" "DNA" "" "" "0000420108" "00418811" "1" "04310" "04310" "2022-10-07 11:55:39" "" "" "SEQ-NG" "DNA" "" "" "0000420984" "00419680" "1" "04310" "04310" "2022-10-21 11:37:29" "" "" "SEQ-NG" "DNA" "" "" "0000420987" "00419682" "1" "04310" "04310" "2022-10-21 11:47:51" "" "" "SEQ-NG" "DNA" "" "" "0000420989" "00419684" "1" "04310" "04310" "2022-10-21 12:02:31" "" "" "SEQ-NG" "DNA" "" "" "0000421032" "00419727" "1" "04310" "04310" "2022-10-21 14:52:27" "" "" "SEQ-NG" "DNA" "" "" "0000421033" "00419728" "1" "04310" "04310" "2022-10-21 15:00:43" "" "" "SEQ-NG" "DNA" "" "" "0000421034" "00419729" "1" "04310" "04310" "2022-10-21 15:24:58" "" "" "ARMS" "DNA" "" "" "0000421035" "00419730" "1" "04310" "04310" "2022-10-21 15:43:20" "" "" "SEQ-NG" "DNA" "" "" "0000421036" "00419731" "1" "04310" "04310" "2022-10-21 16:47:51" "" "" "SEQ-NG" "DNA" "" "" "0000421214" "00419909" "1" "04310" "04310" "2022-10-25 10:55:02" "" "" "SEQ-NG" "DNA" "" "" "0000421215" "00419910" "1" "04310" "04310" "2022-10-25 11:23:32" "" "" "SEQ-NG" "DNA" "" "" "0000421217" "00419912" "1" "04310" "04310" "2022-10-25 11:33:03" "" "" "SEQ-NG" "DNA" "" "" "0000421218" "00419913" "1" "04310" "04310" "2022-10-25 11:38:39" "" "" "SEQ-NG" "DNA" "" "" "0000421219" "00419914" "1" "04310" "04310" "2022-10-25 14:16:21" "" "" "SEQ-NG" "DNA" "" "" "0000421220" "00419915" "1" "04310" "04310" "2022-10-25 14:30:26" "" "" "SEQ-NG" "DNA" "" "" "0000421221" "00419916" "1" "04310" "04310" "2022-10-25 14:43:10" "" "" "SEQ-NG" "DNA" "" "" "0000421222" "00419917" "1" "04310" "04310" "2022-10-25 14:51:57" "" "" "SEQ-NG" "DNA" "" "" "0000421223" "00419918" "1" "04310" "04310" "2022-10-25 14:58:31" "" "" "SEQ-NG" "DNA" "" "" "0000421224" "00419919" "1" "04310" "04310" "2022-10-25 15:11:25" "" "" "SEQ-NG" "DNA" "" "" "0000421225" "00419920" "1" "04310" "04310" "2022-10-25 15:16:29" "" "" "SEQ-NG" "DNA" "" "" "0000421226" "00419921" "1" "04310" "04310" "2022-10-25 15:22:55" "" "" "SEQ-NG" "DNA" "" "" "0000421227" "00419922" "1" "04310" "04310" "2022-10-25 15:31:06" "" "" "SEQ-NG" "DNA" "" "" "0000421228" "00419923" "1" "04310" "04310" "2022-10-25 15:38:30" "" "" "SEQ-NG" "DNA" "" "" "0000421229" "00419924" "1" "04310" "04310" "2022-10-25 15:44:57" "" "" "SEQ-NG" "DNA" "" "" "0000421230" "00419925" "1" "04310" "04310" "2022-10-25 16:00:39" "" "" "SEQ-NG" "DNA" "" "" "0000421231" "00419926" "1" "04310" "04310" "2022-10-25 16:27:20" "" "" "SEQ-NG" "DNA" "" "" "0000421232" "00419927" "1" "04310" "04310" "2022-10-25 16:36:31" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000418620" "SSBP1" "0000419146" "SSBP1" "0000419151" "SSBP1" "0000419606" "SSBP1" "0000419607" "SSBP1" "0000419608" "SSBP1" "0000419609" "SSBP1" "0000419662" "SSBP1" "0000419941" "SSBP1" "0000419974" "SSBP1" "0000419976" "SSBP1" "0000420048" "SSBP1" "0000420050" "SSBP1" "0000420052" "SSBP1" "0000420053" "SSBP1" "0000420054" "SSBP1" "0000420062" "SSBP1" "0000420063" "SSBP1" "0000420064" "SSBP1" "0000420067" "SSBP1" "0000420084" "SSBP1" "0000420085" "SSBP1" "0000420086" "SSBP1" "0000420087" "SSBP1" "0000420088" "SSBP1" "0000420089" "SSBP1" "0000420090" "SSBP1" "0000420091" "SSBP1" "0000420092" "SSBP1" "0000420093" "SSBP1" "0000420094" "SSBP1" "0000420095" "SSBP1" "0000420096" "SSBP1" "0000420097" "SSBP1" "0000420098" "SSBP1" "0000420099" "SSBP1" "0000420100" "SSBP1" "0000420105" "SSBP1" "0000420106" "SSBP1" "0000420107" "SSBP1" "0000420108" "SSBP1" "0000420984" "SSBP1" "0000420987" "SSBP1" "0000420989" "SSBP1" "0000421032" "SSBP1" "0000421033" "SSBP1" "0000421034" "SSBP1" "0000421035" "SSBP1" "0000421036" "SSBP1" "0000421214" "SSBP1" "0000421215" "SSBP1" "0000421217" "SSBP1" "0000421218" "SSBP1" "0000421219" "SSBP1" "0000421220" "SSBP1" "0000421221" "SSBP1" "0000421222" "SSBP1" "0000421223" "SSBP1" "0000421224" "SSBP1" "0000421225" "SSBP1" "0000421226" "SSBP1" "0000421227" "SSBP1" "0000421228" "SSBP1" "0000421229" "SSBP1" "0000421230" "SSBP1" "0000421231" "SSBP1" "0000421232" "SSBP1" ## 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 = 70 "{{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}}" "0000794693" "0" "70" "7" "141445345" "141445345" "subst" "0" "03508" "SSBP1_000001" "g.141445345A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000878428" "11" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000879076" "0" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "De novo" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000879085" "0" "90" "7" "141443394" "141443394" "subst" "0" "04310" "SSBP1_000003" "g.141443394G>T" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "De novo" "?" "" "0" "" "" "g.141743594G>T" "" "likely pathogenic (dominant)" "" "0000879086" "0" "90" "7" "141443394" "141443394" "subst" "0" "04310" "SSBP1_000003" "g.141443394G>T" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "De novo" "?" "" "0" "" "" "g.141743594G>T" "" "likely pathogenic (dominant)" "" "0000879691" "0" "90" "7" "141445312" "141445312" "subst" "0" "04310" "SSBP1_000005" "g.141445312G>C" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "De novo" "yes" "" "0" "" "" "g.141745512G>C" "" "VUS" "" "0000879692" "0" "90" "7" "141443459" "141443459" "subst" "0" "04310" "SSBP1_000004" "g.141443459A>G" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "De novo" "yes" "" "0" "" "" "g.141743659A>G" "" "likely pathogenic (dominant)" "" "0000879693" "11" "90" "7" "141443459" "141443459" "subst" "0" "04310" "SSBP1_000004" "g.141443459A>G" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743659A>G" "" "VUS" "" "0000879694" "11" "70" "7" "141443459" "141443459" "subst" "0" "04310" "SSBP1_000004" "g.141443459A>G" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743659A>G" "" "VUS" "" "0000880062" "0" "90" "7" "141445375" "141445375" "subst" "0.00000813868" "04310" "SSBP1_000006" "g.141445375A>G" "" "{PMID:Del Doto 2019:31550240}" "" "" "" "De novo" "?" "" "0" "" "" "g.141745575A>G" "" "VUS" "" "0000880166" "0" "90" "7" "141442023" "141442023" "subst" "0" "04310" "SSBP1_000007" "g.141442023G>A" "" "{PMID:Gustafson 2019:31479473}" "" "" "" "De novo" "?" "" "0" "" "" "g.141742223G>A" "" "pathogenic (dominant)" "" "0000880199" "11" "90" "7" "141443426" "141443426" "subst" "0" "04310" "SSBP1_000009" "g.141443426A>G" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743626A>G" "" "VUS" "" "0000880200" "0" "90" "7" "141443426" "141443426" "subst" "0" "04310" "SSBP1_000009" "g.141443426A>G" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743626A>G" "" "VUS" "" "0000880204" "11" "90" "7" "141443426" "141443426" "subst" "0" "04310" "SSBP1_000009" "g.141443426A>G" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743626A>G" "" "VUS" "" "0000880291" "0" "90" "7" "141443426" "141443426" "subst" "0" "04310" "SSBP1_000009" "g.141443426A>G" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "De novo" "yes" "" "0" "" "" "g.141743626A>G" "" "VUS" "" "0000880304" "20" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880305" "0" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "De novo" "?" "" "0" "" "" "g.141745501G>A" "" "pathogenic (dominant)" "" "0000880306" "0" "90" "7" "141445375" "141445375" "subst" "0.00000813868" "04310" "SSBP1_000006" "g.141445375A>G" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "De novo" "?" "" "0" "" "" "g.141745575A>G" "" "VUS" "" "0000880307" "0" "90" "7" "141445316" "141445316" "subst" "0" "04310" "SSBP1_000010" "g.141445316G>A" "" "{PMID:Jurkute 2021:34905022}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.141745516G>A" "" "likely pathogenic (dominant)" "" "0000880316" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880317" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "no" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880318" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "no" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880321" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}, {PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880362" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880363" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880364" "20" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880365" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880366" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880367" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880368" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880369" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880370" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880371" "10" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880372" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880373" "20" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880376" "10" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880377" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880379" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880381" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880383" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880396" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880403" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880404" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000880405" "10" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881403" "10" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881404" "20" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Meunier 2021:34548540}\r\n{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881407" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881468" "0" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881469" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881470" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881471" "0" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "De novo" "?" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881472" "20" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic" "" "0000881837" "1" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Piro 2020:31550237}" "" "" "" "De novo" "?" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881838" "21" "90" "7" "141445345" "141445345" "subst" "0" "04310" "SSBP1_000001" "g.141445345A>G" "" "{PMID:Jun 2022:35946466}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745545A>G" "" "VUS" "" "0000881839" "10" "90" "7" "141445345" "141445345" "subst" "0" "04310" "SSBP1_000001" "g.141445345A>G" "" "{PMID:Jun 2022:35946466}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141745545A>G" "" "VUS" "" "0000881842" "21" "90" "7" "141445345" "141445345" "subst" "0" "04310" "SSBP1_000001" "g.141445345A>G" "" "{PMID:Jun 2022:35946466}" "" "" "unaffected" "Germline" "no" "" "0" "" "" "g.141745545A>G" "" "VUS" "" "0000881843" "10" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881844" "10" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881845" "11" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881846" "11" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881847" "11" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881848" "10" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881849" "10" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881850" "10" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881853" "21" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881854" "21" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881855" "21" "90" "7" "141445301" "141445301" "subst" "0" "04310" "SSBP1_000002" "g.141445301G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141745501G>A" "" "likely pathogenic (dominant)" "" "0000881856" "1" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881857" "11" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "VUS" "" "0000881858" "21" "90" "7" "141443388" "141443388" "subst" "0" "04310" "SSBP1_000008" "g.141443388G>A" "" "{PMID:Jurkute 2019:31298765}" "" "" "" "Germline" "yes" "" "0" "" "" "g.141743588G>A" "" "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 SSBP1 ## Count = 70 "{{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}}" "0000794693" "00020333" "70" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Lys122Glu)" "" "0000878428" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000879076" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000879085" "00020333" "90" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Gly40Val)" "" "0000879086" "00020333" "90" "119" "0" "119" "0" "c.119G>T" "r.(?)" "p.(Gly40Val)" "" "0000879691" "00020333" "90" "331" "0" "331" "0" "c.331G>C" "r.(?)" "p.(Glu111Gln)" "" "0000879692" "00020333" "90" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Asn62Asp)" "" "0000879693" "00020333" "90" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Asn62Asp)" "" "0000879694" "00020333" "70" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Asn62Asp)" "" "0000880062" "00020333" "90" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Ile132Val)" "" "0000880166" "00020333" "90" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "" "0000880199" "00020333" "90" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Lys51Glu)" "" "0000880200" "00020333" "90" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Lys51Glu)" "" "0000880204" "00020333" "90" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Lys51Glu)" "" "0000880291" "00020333" "90" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Lys51Glu)" "" "0000880304" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880305" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000880306" "00020333" "90" "394" "0" "394" "0" "c.394A>G" "r.(?)" "p.(Ile132Val)" "" "0000880307" "00020333" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000880316" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880317" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880318" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880321" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880362" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880363" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880364" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880365" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880366" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880367" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880368" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880369" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880370" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880371" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880372" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880373" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880376" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880377" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880379" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880381" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880383" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880396" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880403" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880404" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000880405" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881403" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881404" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881407" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881468" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881469" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881470" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881471" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881472" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881837" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881838" "00020333" "90" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Lys122Glu)" "" "0000881839" "00020333" "90" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Lys122Glu)" "" "0000881842" "00020333" "90" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Lys122Glu)" "" "0000881843" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881844" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881845" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881846" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881847" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881848" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881849" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881850" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881853" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881854" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881855" "00020333" "90" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Arg107Gln)" "" "0000881856" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881857" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000881858" "00020333" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000381295" "0000794693" "0000418620" "0000878428" "0000419146" "0000879076" "0000419151" "0000879085" "0000419151" "0000879086" "0000419606" "0000879691" "0000419607" "0000879692" "0000419608" "0000879693" "0000419609" "0000879694" "0000419662" "0000880062" "0000419941" "0000880166" "0000419974" "0000880199" "0000419974" "0000880200" "0000419976" "0000880204" "0000420048" "0000880291" "0000420050" "0000880304" "0000420052" "0000880305" "0000420053" "0000880306" "0000420054" "0000880307" "0000420062" "0000880316" "0000420063" "0000880317" "0000420064" "0000880318" "0000420067" "0000880321" "0000420084" "0000880362" "0000420085" "0000880363" "0000420086" "0000880364" "0000420087" "0000880365" "0000420088" "0000880366" "0000420089" "0000880367" "0000420090" "0000880368" "0000420091" "0000880369" "0000420092" "0000880370" "0000420093" "0000880371" "0000420094" "0000880372" "0000420095" "0000880373" "0000420096" "0000880376" "0000420097" "0000880377" "0000420098" "0000880379" "0000420099" "0000880381" "0000420100" "0000880383" "0000420105" "0000880396" "0000420106" "0000880403" "0000420107" "0000880404" "0000420108" "0000880405" "0000420984" "0000881403" "0000420987" "0000881404" "0000420989" "0000881407" "0000421032" "0000881468" "0000421033" "0000881469" "0000421034" "0000881470" "0000421035" "0000881471" "0000421036" "0000881472" "0000421214" "0000881837" "0000421215" "0000881838" "0000421217" "0000881839" "0000421218" "0000881842" "0000421219" "0000881843" "0000421220" "0000881844" "0000421221" "0000881845" "0000421222" "0000881846" "0000421223" "0000881847" "0000421224" "0000881848" "0000421225" "0000881849" "0000421226" "0000881850" "0000421227" "0000881853" "0000421228" "0000881854" "0000421229" "0000881855" "0000421230" "0000881856" "0000421231" "0000881857" "0000421232" "0000881858"