### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AHI1) # 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}}" "AHI1" "Abelson helper integration site 1" "6" "q23.2" "unknown" "NG_008643.2" "UD_132118784592" "" "https://www.LOVD.nl/AHI1" "" "1" "21575" "54806" "608894" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/AHI1_NM_001134831.1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2019-11-27 09:56:48" "00006" "2025-05-08 15:29:46" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024006" "AHI1" "transcript variant 1" "003" "NM_001134831.1" "" "NP_001128303.1" "" "" "" "-384" "5264" "3591" "135818903" "135605110" "00006" "2015-01-17 15:03:19" "" "" "00025414" "AHI1" "transcript variant 2" "002" "NM_017651.4" "" "NP_060121.3" "" "" "" "-299" "5264" "3591" "135818903" "135605110" "00008" "2019-06-20 14:49:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{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" "" "" "00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00702" "LCA10" "Leber congenital amaurosis, type 10 (LCA-10)" "" "611755" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00920" "JBTS3" "Joubert syndrome, type 3 (JBTS-3)" "AR" "608629" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02387" "RP19" "retinitis pigmentosa, type 19 (RP19)" "AR" "601718" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "AHI1" "00139" "AHI1" "00920" "AHI1" "05109" ## Individuals ## Do not remove or alter this header ## ## Count = 241 "{{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}}" "00000036" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000053" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "JPT/HAN‐HapMap sample" "F" "" "" "" "0" "" "" "" "" "00000066" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000087" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000096" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00028912" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-37 Pat1" "00028913" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-43 Pat2" "00028914" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-51 Pat3" "00028915" "" "" "" "1" "" "01188" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-49 Pat4" "00033096" "" "" "" "1" "" "00229" "{PMID:Neveling 2012:22334370}" "" "M" "no" "" "" "0" "" "" "" "" "00033337" "" "" "" "1" "" "00010" "" "" "" "?" "Saudi Arabia" "" "0" "" "" "" "" "00056048" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00056049" "" "" "" "1" "" "00552" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00081101" "" "" "" "1" "" "01763" "Haer-Wigman 2016" "" "?" "no" "" "" "0" "" "" "" "" "00155377" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish" "" "00240422" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00269432" "" "" "" "1" "" "03508" "" "" "M" "no" "Korea" "24y" "0" "" "" "Asian" "" "00269890" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00293985" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293986" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293987" "" "" "" "45" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293988" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293989" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299641" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "2-generation family, 1 affeted" "M" "" "" "" "0" "" "" "" "FamGC3626Pat2" "00308713" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00308938" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00308939" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00311013" "" "" "" "1" "" "03787" "" "" "" "" "" "" "" "" "" "" "" "00324518" "" "" "" "1" "" "03957" "-" "-" "F" "no" "China" ">34y" "" "yes" "none" "-" "A1" "00325415" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "257" "00325493" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3602" "00327949" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240091" "00328007" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "G001044" "00332194" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB375" "00332289" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam39PatFBP_327" "00333459" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "SRF_611" "00335082" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "4258" "00358856" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam14" "00358859" "" "" "" "1" "" "00000" "{PMID:Suzuki 2016:27434533}" "" "" "no" "Japan" "" "0" "" "" "" "Fam17" "00361575" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG1590" "00363394" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM680" "00363401" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "healthy control" "" "" "China" "" "0" "" "" "" "control" "00372107" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW003-3" "00372108" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW003-4" "00372109" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW009-3" "00372110" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW012-3" "00372111" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW018-3" "00372112" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW028-3" "00372113" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW101-1" "00372114" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW115-3" "00372115" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW133-3" "00372116" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW187-3" "00372117" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW188-3" "00372118" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW200-3" "00372119" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW200-4" "00372120" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW205-3" "00372121" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW207-3" "00372122" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW209-3" "00372123" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW209-4" "00372124" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW213-3" "00372125" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW218-3" "00372126" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW221-3" "00372127" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW226-3" "00372128" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW226-4" "00372129" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW226-5" "00372130" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW237-3" "00372131" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW248-3" "00372132" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW253-3" "00372133" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW253-4" "00372134" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW261-3" "00372135" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW261-4" "00372136" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW272-3" "00372137" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW291-3" "00372138" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW292-3" "00372139" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW292-4" "00372140" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW306-3" "00372371" "" "" "" "1" "" "00000" "{PMID:Bachmann-Gagescu 2015:26092869}" "patient" "" "" "" "" "0" "" "" "" "UW201-3" "00373393" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-40" "00373398" "" "" "" "1" "" "00000" "{PMID:Kroes 2016:25920555}" "" "" "" "" "" "0" "" "" "Europe-N" "2-65" "00373752" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373761" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373762" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373763" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "French" "" "00373764" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "yes" "Morocco" "" "0" "" "" "" "" "00373765" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373766" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "France" "" "0" "" "" "" "" "00373775" "" "" "" "1" "" "00008" "{PMID:Tory 2007:17409309}" "Unknown 2nd variant" "" "yes" "Tunisia" "" "0" "" "" "" "" "00373777" "" "" "" "4" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00373782" "" "" "" "4" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00373784" "" "" "" "4" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00373786" "" "" "" "4" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00373787" "" "" "" "4" "" "00008" "{PMID:Tory 2007:17409309}" "" "" "" "" "" "0" "" "" "" "" "00374181" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5981" "00374182" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1948" "00374183" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4566" "00374649" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4871" "00374650" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4176" "00374971" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W196-1" "00377654" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 45" "M" "" "United States" "" "0" "" "" "" "513" "00377655" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 46" "M" "" "United States" "" "0" "" "" "" "517" "00377656" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 47" "M" "" "United States" "" "0" "" "" "" "472" "00377657" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 48" "M" "" "United States" "" "0" "" "" "" "574" "00377658" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 49" "F" "" "United States" "" "0" "" "" "" "540" "00377659" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 50" "F" "" "United States" "" "0" "" "" "" "228" "00377771" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "" "Germany" "" "0" "" "" "" "" "00377920" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "" "" "" "" "" "0" "" "" "" "" "00379584" "" "" "" "1" "" "00000" "{PMID:alazami-2012:22693042}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00379592" "" "" "" "2" "" "00000" "{PMID:alazami-2012:22693042}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00379627" "" "" "" "1" "" "00000" "{PMID:Nishiguchi-2012:22848652}" "" "" "" "" "" "0" "" "" "Yoruba" "" "00380355" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00380365" "" "" "" "1" "" "00000" "{PMID:M\'hamdi_2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00382809" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "no" "" "" "0" "" "" "white" "" "00382810" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "M" "no" "" "" "0" "" "" "white" "" "00382811" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "no" "" "" "0" "" "" "white" "" "00382812" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "yes" "" "" "0" "" "" "white" "" "00382813" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "M" "yes" "" "" "0" "" "" "Armenian" "" "00382814" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "M" "no" "" "" "0" "" "" "white" "" "00382815" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Turkish" "" "00382816" "" "" "" "2" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Icelandic" "" "00382817" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Saudi Arabian" "" "00382818" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "no" "" "" "0" "" "" "white" "" "00382819" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "yes" "" "" "0" "" "" "Turkish" "" "00382820" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "yes" "" "" "0" "" "" "Turkish" "" "00382821" "" "" "" "2" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Turkish" "" "00382822" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "M" "yes" "" "" "0" "" "" "Palestinian" "" "00382823" "" "" "" "2" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Kuwaiti" "" "00382824" "" "" "" "1" "" "00000" "{PMID:Parisi-2006:16155189}" "" "F" "yes" "" "" "0" "" "" "Turkish" "" "00382825" "" "" "" "3" "" "00000" "{PMID:Parisi-2006:16155189}" "" "M" "yes" "" "" "0" "" "" "Saudi Arabian" "" "00382826" "" "" "" "3" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Saudi Arabian" "" "00382827" "" "" "" "2" "" "00000" "{PMID:Parisi-2006:16155189}" "" "" "yes" "" "" "0" "" "" "Saudi Arabian" "" "00383754" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18070001_A" "00383755" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18070002_A" "00385225" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385232" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "France" "" "0" "" "" "" "" "00385251" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385252" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385256" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "Tunisia" "" "0" "" "" "" "" "00385286" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00385287" "" "" "" "1" "" "00000" "{PMID:M\'hamdi-2014:23432027}" "" "M" "yes" "Tunisia" "" "0" "" "" "Tunisian" "" "00387540" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "M" "yes" "" "" "0" "" "" "" "" "00387543" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "F" "yes" "" "" "0" "" "" "" "" "00387544" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "" "M" "yes" "" "" "0" "" "" "" "" "00387571" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "has initially been described as possibly phenotype modifying2,3 and neutral polymorphism without segregation 4, detected in heterozygous state in one patient without further clearly pathogenic mutations" "" "" "" "" "0" "" "" "" "" "00387572" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "has been described as polymorphism without segregation" "" "" "" "" "0" "" "" "" "" "00387573" "" "" "" "1" "" "00000" "{PMID:Knopp 2015:26003401}" "has been described as polymorphism without segregation" "" "" "" "" "0" "" "" "" "" "00387599" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "" "" "" "" "" "0" "" "" "" "" "00387600" "" "" "" "1" "" "00000" "{PMID:Watson 2016:26729329}" "" "" "" "" "" "0" "" "" "" "" "00388022" "" "" "" "1" "" "00000" "{PMID:Enokizono 2017:28431631}" "" "M" "" "Japan" "" "0" "" "" "" "6" "00388023" "" "" "" "1" "" "00000" "{PMID:Enokizono 2017:28431631}" "" "M" "" "Japan" "" "0" "" "" "" "7" "00388024" "" "" "" "1" "" "00000" "{PMID:Enokizono 2017:28431631}" "" "F" "" "Japan" "" "0" "" "" "" "8" "00388068" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "228" "00388097" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "472" "00388111" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "513" "00388112" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "517" "00388121" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "540" "00388134" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "574" "00388144" "" "" "" "1" "" "00000" "{PMID:Surl 2020:32165824}" "" "M" "" "Korea" "" "0" "" "" "" "1" "00389565" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 350, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "849" "00390161" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001044" "00390474" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005496" "00390835" "" "" "" "1" "" "00000" "{PMID:Toma-2018:29987673}" "each of the variants was inherited by one healthy parent" "F" "" "" "" "0" "" "" "Italian" "" "00390836" "" "" "" "1" "" "00000" "{PMID:Toma-2018:29987673}" "sister of patient 3." "F" "" "" "" "0" "" "" "Italian" "" "00391744" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "129" "00391745" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "130" "00391746" "" "" "" "1" "" "00000" "{PMID:Sallum 2020:32865313}" "" "?" "" "Brazil" "" "0" "" "" "" "131" "00391866" "" "" "" "1" "" "00000" "{PMID:Repo 2021:32901921}" "" "M" "no" "Finland" "" "0" "" "" "Northern African" "2" "00392627" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "101" "00395601" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2321" "00395605" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2876" "00395619" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-3257" "00403866" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF044" "00407648" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-14" "00408736" "" "" "" "1" "" "00000" "{PMID:Dixon-Salazar 2004:15467982}" "family MTI 010, individual 1 (proband)" "M" "yes" "" "" "0" "" "" "Palestinian" "10-1" "00408737" "" "" "" "1" "" "00000" "{PMID:Dixon-Salazar 2004:15467982}" "family MTI 115, individual 1 (proband)" "M" "yes" "" "" "0" "" "" "Kuwaiti" "115-1" "00408738" "" "" "" "1" "" "00000" "{PMID:Dixon-Salazar 2004:15467982}" "family MTI 115, individual 2 (proband\'s sister)" "F" "yes" "" "" "0" "" "" "Kuwaiti" "115-3" "00408739" "" "" "" "1" "" "00000" "{PMID:Dixon-Salazar 2004:15467982}" "family MTI 144, individual 1 (proband)" "F" "yes" "" "" "0" "" "" "Turkish" "144-2" "00408759" "" "" "" "1" "" "00000" "{PMID:Utsch 2006:16240161}" "family F799, individual II:2 (parents - 3rd degree cousins)" "" "yes" "" "" "0" "" "" "Pakistani" "F799_II:2" "00408760" "" "" "" "1" "" "00000" "{PMID:Utsch 2006:16240161}" "family F799, individual II:4 (parents - 3rd degree cousins)" "" "yes" "" "" "0" "" "" "Pakistani" "F799_II:4" "00408761" "" "" "" "1" "" "00000" "{PMID:Utsch 2006:16240161}" "family F400, individual II:1" "" "" "" "" "0" "" "" "" "F400_II:1" "00408762" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "F" "yes" "Egypt" "" "0" "" "" "" "MTI-229-1" "00408763" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "yes" "Egypt" "" "0" "" "" "" "MTI-229-2" "00408764" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "no" "United States" "" "0" "" "" "African American" "MTI-105" "00408765" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "F" "yes" "Spain" "" "0" "" "" "" "MTI-107" "00408766" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "no" "Ireland" "" "0" "" "" "" "MTI-155" "00408767" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "F" "no" "United States" "" "0" "" "" "white" "MTI-152" "00408768" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "no" "United States" "" "0" "" "" "white" "MTI-208" "00408769" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "no" "United States" "" "0" "" "" "white" "MTI-112" "00408770" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "yes" "Italy" "" "0" "" "" "white" "COR11" "00408771" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "no" "Luxembourg" "" "0" "" "" "white" "MK23" "00408772" "" "" "" "1" "" "00000" "{PMID:Valente 2006:16453322}" "" "M" "no" "Switzerland" "" "0" "" "" "white" "COR63" "00408773" "" "" "" "1" "" "00000" "{PMID:Romano 2006:16541367}" "the only one out of ten tested individuals to have an AHI1 mutation" "F" "yes" "Turkey" "" "0" "" "" "" "1" "00408774" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "1" "00408775" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "2" "00408776" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "3" "00408777" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "4" "00408778" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "5" "00408779" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "6" "00408780" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "7" "00408781" "" "" "" "1" "" "00000" "{PMID:Kroes 2008:18054307}" "" "" "" "" "" "0" "" "" "" "8" "00408792" "" "" "" "1" "" "00000" "{PMID:Tuz 2013:23532844}" "cell lines from fibroblasts: primary cilia formation and localization of ciliary proteins in the remaining cilia were significantly decreased in cell line derived from this individual" "" "" "" "" "0" "" "" "" "?" "00408793" "" "" "" "1" "" "00000" "{PMID:Tuz 2013:23532844}" "cell lines from fibroblasts: primary cilia formation and localization of ciliary proteins in the remaining cilia were significantly decreased in cell line derived from this individual" "" "" "" "" "0" "" "" "" "?" "00408794" "" "" "" "1" "" "00000" "{PMID:Tuz 2013:23532844}" "disrupts the localization of AHI1 at the cell-cell junction and basal body, reduces the interaction of AHI1 and NPHP1, results in an increased rate of AHI1 protein decay, alters binding to HAP1" "" "" "" "" "0" "" "" "" "?" "00408795" "" "" "" "1" "" "00000" "{PMID:Tuz 2013:23532844}" "slight, but significant decrease in cilia formation; disrupts the localization of AHI1 at the cell-cell junction and the basal body" "" "" "" "" "0" "" "" "" "?" "00408798" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "M" "yes" "" "" "0" "" "" "" "JS_F2" "00408807" "" "" "" "1" "" "00000" "{PMID:Alazami 2012:22693042}" "" "F" "yes" "" "" "0" "" "" "" "JS_F10" "00408810" "" "" "" "1" "" "00000" "{PMID:Elsayed 2015:25616960}" "Family 1 present in three deaf siblings (II:3, II:5, II:6) and a healthy sister (II:4)" "M" "yes" "" "" "0" "" "" "Palestinian" "Family 1" "00408811" "" "" "" "1" "" "00000" "{PMID:Elsayed 2015:25616960}" "Family 2, individual II:2" "M" "yes" "Egypt" "" "0" "" "" "" "II:2" "00408812" "" "" "" "1" "" "00000" "{PMID:Elsayed 2015:25616960}" "Family 2, individual II:4" "M" "yes" "Egypt" "" "0" "" "" "" "II:4" "00408814" "" "" "" "1" "" "00000" "{PMID:Chafai-Elalaoui 2015:26541515}" "Family 1, individual III:1" "M" "yes" "Morocco" "" "0" "" "" "" "III:1" "00408815" "" "" "" "1" "" "00000" "{PMID:Chafai-Elalaoui 2015:26541515}" "Family 1, individual III:2" "F" "yes" "Morocco" "" "0" "" "" "" "III:2" "00408816" "" "" "" "1" "" "00000" "{PMID:Chafai-Elalaoui 2015:26541515}" "Family 1, individual III:3" "M" "yes" "Morocco" "" "0" "" "" "" "III:3" "00408817" "" "" "" "1" "" "00000" "{PMID:Salva 2016:26759440}" "" "F" "no" "Portugal" "" "0" "" "" "" "?" "00408829" "" "" "" "1" "" "00000" "{PMID:Nguyen 2017:28442542}" "" "F" "" "" "" "0" "" "" "" "Patient A-II:1" "00408830" "" "" "" "1" "" "00000" "{PMID:Nguyen 2017:28442542}" "" "F" "" "" "" "0" "" "" "" "Patient B-II:2" "00408831" "" "" "" "1" "" "00000" "{PMID:Nguyen 2017:28442542}" "" "F" "" "" "" "0" "" "" "" "Patient C-II:1" "00408833" "" "" "" "1" "" "00000" "{PMID:Rosati 2018:29334628}" "cell line hiPSCs derived from patient fibroblasts" "M" "no" "" "" "0" "" "" "Italian" "?" "00408962" "" "" "" "1" "" "00000" "{PMID:Zhu 2017:29390414}" "27 weeks gestation fetus, prenatal diagnostics exome sequencing, terminated pregnancy" "M" "no" "" "" "0" "" "" "Italian" "?" "00408963" "" "" "" "1" "" "00000" "{PMID:Altieri 2019:31202121}" "cell line hiPSCs derived from patient fibroblasts" "M" "no" "" "" "0" "" "" "Italian" "?" "00408964" "" "" "" "1" "" "00000" "{PMID:Collard 2020:33777383}" "" "F" "" "" "" "0" "" "" "United Kingdom (Great Britain)" "?" "00408965" "" "" "" "1" "" "00000" "{PMID:Karamzade 2021:34191236}" "" "F" "" "Iran" "" "0" "" "" "" "?" "00408966" "" "" "" "1" "" "00000" "{PMID:Tuncel 2021:34205586}" "" "M" "no" "" "" "0" "" "" "Turkish Cypriot" "?" "00408967" "" "" "" "1" "" "00000" "{PMID:Min 2017:28391287}" "" "M" "no" "" "" "0" "" "" "" "II: 1" "00408968" "" "" "" "1" "" "00000" "{PMID:Min 2017:28391287}" "" "F" "no" "" "" "0" "" "" "" "II: 2" "00408969" "" "" "" "1" "" "00000" "{PMID:Bai 2020:32335874}" "family 1, proband (abstract only)" "" "" "" "" "0" "" "" "" "?" "00408971" "" "" "" "1" "" "00000" "{PMID:Chen 2021:34627237}" "" "" "no" "China" "" "0" "" "" "Chinese Han" "?" "00426944" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 48, individual 57" "F" "" "" "" "0" "" "" "" "48_57" "00427973" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A018" "00428260" "" "" "" "1" "" "01164" "" "" "M" "yes" "Syria" "" "0" "" "" "" "211453" "00430045" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430060" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430114" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00444251" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat2" "00447592" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-766" "00465222" "" "" "" "2" "" "00006" "{PMID:Desgrouas 2025:40011009}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "yes" "France" "00y00m01d" "0" "" "" "" "FamPat1" "00465223" "" "" "00465222" "1" "" "00006" "{PMID:Desgrouas 2025:40011009}" "sib" "F" "yes" "France" "00y00m00d" "0" "" "" "" "FamPat2" "00465296" "" "" "" "1" "" "00006" "{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}" "" "" "" "" "" "0" "" "" "" "COR127" "00465301" "" "" "" "1" "" "00006" "{PMID:Zhang 2022:35958498}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 235 "{{individualid}}" "{{diseaseid}}" "00000039" "05427" "00000094" "00114" "00028912" "00002" "00028913" "00002" "00028914" "00002" "00028915" "00002" "00033096" "04214" "00033337" "00002" "00056048" "05109" "00056049" "05109" "00081101" "04214" "00155377" "04214" "00240422" "00381" "00269432" "00702" "00269432" "00920" "00269890" "00198" "00293985" "00198" "00293986" "00198" "00293987" "00198" "00293988" "00198" "00293989" "00198" "00299641" "04214" "00308713" "00000" "00308938" "04214" "00308939" "04214" "00311013" "05109" "00324518" "02387" "00325415" "04214" "00325493" "04214" "00327949" "04214" "00328007" "04214" "00332194" "04214" "00332289" "04214" "00333459" "04214" "00335082" "00198" "00358856" "05109" "00358859" "05109" "00361575" "00139" "00363394" "04214" "00363401" "00000" "00372107" "05109" "00372108" "05109" "00372109" "05109" "00372110" "05109" "00372111" "05109" "00372112" "05109" "00372113" "05109" "00372114" "05109" "00372115" "05109" "00372116" "05109" "00372117" "05109" "00372118" "05109" "00372119" "05109" "00372120" "05109" "00372121" "05109" "00372122" "05109" "00372123" "05109" "00372124" "05109" "00372125" "05109" "00372126" "05109" "00372127" "05109" "00372128" "05109" "00372129" "05109" "00372130" "05109" "00372131" "05109" "00372132" "05109" "00372133" "05109" "00372134" "05109" "00372135" "05109" "00372136" "05109" "00372137" "05109" "00372138" "05109" "00372139" "05109" "00372140" "05109" "00372371" "05109" "00373393" "04214" "00373398" "04214" "00373752" "04214" "00373761" "04214" "00373762" "04214" "00373763" "04214" "00373764" "04214" "00373765" "04214" "00373766" "04214" "00373775" "04214" "00373777" "00000" "00373782" "00000" "00373784" "00000" "00373786" "00000" "00373787" "00000" "00374181" "00198" "00374182" "00198" "00374183" "00198" "00374649" "00198" "00374650" "00198" "00374971" "04214" "00377654" "04214" "00377655" "04214" "00377656" "04214" "00377657" "04214" "00377658" "04214" "00377659" "04214" "00377771" "04214" "00377920" "04214" "00379584" "04214" "00379592" "04214" "00379627" "00000" "00380355" "04214" "00380365" "04214" "00382809" "04214" "00382810" "04214" "00382811" "04214" "00382812" "04214" "00382813" "04214" "00382814" "04214" "00382815" "04214" "00382816" "04214" "00382817" "04214" "00382818" "04214" "00382819" "04214" "00382820" "04214" "00382821" "04214" "00382822" "04214" "00382823" "04214" "00382824" "04214" "00382825" "04214" "00382826" "04214" "00382827" "04214" "00383754" "04214" "00383755" "04214" "00385225" "04214" "00385232" "04214" "00385251" "04214" "00385252" "04214" "00385256" "04214" "00385286" "04214" "00385287" "04214" "00387540" "04214" "00387543" "04214" "00387544" "04214" "00387571" "04214" "00387572" "04214" "00387573" "04214" "00387599" "04214" "00387600" "04214" "00388022" "04214" "00388023" "04214" "00388024" "04214" "00388068" "04214" "00388097" "04214" "00388111" "04214" "00388112" "04214" "00388121" "04214" "00388134" "04214" "00388144" "04214" "00389565" "04214" "00390161" "04214" "00390474" "04214" "00390835" "04214" "00390836" "04214" "00391744" "04214" "00391745" "04214" "00391746" "04214" "00391866" "04214" "00392627" "04214" "00395601" "04214" "00395605" "04214" "00395619" "04214" "00403866" "05611" "00407648" "04214" "00408736" "04214" "00408737" "04214" "00408738" "04214" "00408739" "04214" "00408759" "05109" "00408760" "05109" "00408761" "05109" "00408762" "05109" "00408763" "05109" "00408764" "05109" "00408765" "05109" "00408766" "05109" "00408767" "05109" "00408768" "05109" "00408769" "05109" "00408770" "05109" "00408771" "05109" "00408772" "05109" "00408773" "05109" "00408774" "05109" "00408775" "05109" "00408776" "05109" "00408777" "05109" "00408778" "05109" "00408779" "05109" "00408780" "05109" "00408781" "05109" "00408792" "05109" "00408793" "05109" "00408794" "05109" "00408795" "05109" "00408798" "05109" "00408807" "05109" "00408810" "05103" "00408811" "05109" "00408812" "05109" "00408814" "05109" "00408815" "05109" "00408816" "05109" "00408817" "05109" "00408829" "04214" "00408830" "04214" "00408831" "04214" "00408833" "05109" "00408962" "05109" "00408963" "05109" "00408964" "05109" "00408965" "05109" "00408966" "05109" "00408967" "00198" "00408968" "00198" "00408969" "05109" "00408971" "05109" "00426944" "04214" "00427973" "00198" "00428260" "00920" "00430045" "00112" "00430060" "00112" "00430114" "00112" "00444251" "04214" "00447592" "00198" "00465222" "00198" "00465223" "00198" "00465296" "05109" "00465301" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00112, 00114, 00139, 00198, 00381, 00702, 00920, 02387, 04214, 05103, 05109, 05427, 05611 ## Count = 217 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000025008" "00002" "00028912" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025009" "00002" "00028913" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025010" "00002" "00028914" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025011" "00002" "00028915" "01188" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026525" "04214" "00033096" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026766" "00002" "00033337" "00010" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043072" "05109" "00056048" "00006" "Unknown" "" "Joubert syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000043073" "05109" "00056049" "00006" "Unknown" "" "Joubert syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060670" "04214" "00081101" "01763" "Unknown" "" "" "" "" "" "53y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127877" "04214" "00155377" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000207255" "00920" "00269432" "03508" "Familial, autosomal recessive" "" "" "" "" "" "24y" "" "" "" "" "" "" "2017-11-17" "" "" "0000207686" "00198" "00269890" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Hypermetropia (HP:0000540)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000226951" "04214" "00299641" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., 29y-photopsia (HP:0030786), slightly reduced acuity (HP:0007663), mild nyctalopia (HP:0000662); irregular pigmented lesions in periphery(HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), peripheral telangiectasia (HP:0007763) with some retinal edema (HP:0020120) and vitreous cells (HP:0004327), possible para-arteriolar sparing; 29y-ERG no identifiable responses other than a minimal, delayed response to 30Hz flicker (PERG, EOG and ERG tested), severe photoreceptor dysfunction; 29y-colour vision Ishihara 15/15 each eye; 29y-Goldmann visual fields ring scotoma at 30 degrees, binocular Esterman age 36: central 20 degrees only retained; presenting VA logMAR (Snellen) R 0.48 (20/60), L 0.3 (20/40); latest VA logMAR R 1.8 (20/1250), L 1.5 (20/630); latest refractive error, dioptres R -1.00/-1.00x5, L +0.75/-1.00x90" "" "" "29y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000234258" "04214" "00308938" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234259" "04214" "00308939" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243062" "02387" "00324518" "03957" "Familial, autosomal recessive" "34y" "" "" "" "27y" "34y" "" "" "" "" "" "" "RP19" "RP" "" "0000243902" "04214" "00325415" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243980" "04214" "00325493" "00006" "Familial, autosomal recessive" "" "syndromic retinal systrophy" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246176" "04214" "00327949" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246234" "04214" "00328007" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250381" "04214" "00332194" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250476" "04214" "00332289" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000251644" "04214" "00333459" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000252797" "00198" "00335082" "00000" "Unknown" "" "53y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254114" "05109" "00358856" "00000" "Familial, autosomal recessive" "" "moderate intellectual disability; moderate developmental delay; hypotonia; retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000254117" "05109" "00358859" "00000" "Familial, autosomal recessive" "" "moderate intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000256980" "00139" "00361575" "00006" "Familial, autosomal recessive" "1y6m" "syndromic; global developmental delay, typical Joubert syndrome MRI findings" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000258759" "04214" "00363394" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267428" "05109" "00372107" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267429" "05109" "00372108" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267430" "05109" "00372109" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267431" "05109" "00372110" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267432" "05109" "00372111" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267433" "05109" "00372112" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267434" "05109" "00372113" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267435" "05109" "00372114" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267436" "05109" "00372115" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267437" "05109" "00372116" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267438" "05109" "00372117" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267439" "05109" "00372118" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267440" "05109" "00372119" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267441" "05109" "00372120" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267442" "05109" "00372121" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267443" "05109" "00372122" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267444" "05109" "00372123" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267445" "05109" "00372124" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267446" "05109" "00372125" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267447" "05109" "00372126" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267448" "05109" "00372127" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267449" "05109" "00372128" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267450" "05109" "00372129" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267451" "05109" "00372130" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267452" "05109" "00372131" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267453" "05109" "00372132" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267454" "05109" "00372133" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267455" "05109" "00372134" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267456" "05109" "00372135" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267457" "05109" "00372136" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267458" "05109" "00372137" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267459" "05109" "00372138" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267460" "05109" "00372139" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267461" "05109" "00372140" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000267692" "05109" "00372371" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268669" "04214" "00373393" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268674" "04214" "00373398" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000268975" "04214" "00373752" "00008" "Familial, autosomal recessive" "" "ESRD (11y); blind; nystagmus; cerebellar ataxia; mental retardation" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis" "" "0000268984" "04214" "00373761" "00008" "Familial, autosomal recessive" "" "ESRD (15y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis" "" "0000268985" "04214" "00373762" "00008" "Familial, autosomal recessive" "" "CRF (12y); cogan oculomotor apraxia; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268986" "04214" "00373763" "00008" "Familial, autosomal recessive" "" "ESRD (13y); cogan oculomotor apraxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268987" "04214" "00373764" "00008" "Familial, autosomal recessive" "" "ESRD (7y); visual impairment; nystagmus; mental retardation; Convulsions" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268988" "04214" "00373765" "00008" "Familial, autosomal recessive" "" "ESRD (7y); visual impairment; nystagmus; cerebellar ataxia; mental retardation; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268989" "04214" "00373766" "00008" "Familial, autosomal recessive" "" "ESRD (9y); nystagmus; mental retardation" "" "" "" "" "" "" "" "" "" "" "" "Joubert Syndrome / Nephronophthisis/mental retardation" "" "0000268998" "04214" "00373775" "00008" "Familial, autosomal recessive" "" "ESRD (18y); visual impairment; oculomotor disorder; cerebellar ataxia; mental retardation; cerebellar vermis aplasia/hypoplasia; Polydactyly" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269391" "00198" "00374181" "00006" "Familial, autosomal recessive" "" "Abnornal eye movements diffuse hypotonia, developmental delay and MRI revealed cerebellar vermian hypoplasia and molar tooth sign" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000269392" "00198" "00374182" "00006" "Familial, autosomal recessive" "" "Global developmental delay, microcephaly, central hypotonia, oculomotor apraxia, poor visual function. MRI showed molar tooth sign and features suggestive of Joubert syndrome" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000269393" "00198" "00374183" "00006" "Familial, autosomal recessive" "" "Ataxia and brain malformation" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000269859" "00198" "00374649" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000269860" "00198" "00374650" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000270181" "04214" "00374971" "00000" "Isolated (sporadic)" "35y" "best corrected visual acuity light perception/light perception" "" "" "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272806" "04214" "00377654" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus, strabismus" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272807" "04214" "00377655" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, oculomotor apraxia, nystagmus, strabismus, vessel attenuation" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272808" "04214" "00377656" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus, strabismus, retinal degeneration, vessel attenuation" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272809" "04214" "00377657" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus, strabismus, retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272810" "04214" "00377658" "00000" "Familial, autosomal recessive" "" "liver disease, kidney disease, nystagmus, strabismus, retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272811" "04214" "00377659" "00000" "Familial, autosomal recessive" "" ", kidney disease, oculomotor apraxia, nystagmus, strabismus, retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272917" "04214" "00377771" "00000" "Familial" "" "cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000273066" "04214" "00377920" "00000" "Unknown" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "end-stage renal disease (ESRD)" "" "0000273438" "04214" "00379584" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JS)" "" "0000273446" "04214" "00379592" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JS)" "" "0000274206" "04214" "00380355" "00000" "Familial, autosomal recessive" "15y" "retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000274216" "04214" "00380365" "00000" "Familial, autosomal recessive" "4y" "arterial hypertension, retinitis pigmentaria" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl syndrome" "" "0000276665" "04214" "00382809" "00000" "Familial, autosomal recessive" "18y" "molar tooth sign on MRI, diabetes mellitus" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276666" "04214" "00382810" "00000" "Familial, autosomal recessive" "4y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276667" "04214" "00382811" "00000" "Familial, autosomal recessive" "6y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276668" "04214" "00382812" "00000" "Familial, autosomal recessive" "5y" "molar tooth sign on MRI, polydactyly, hepatic fibrosis, occipital encephaloceles, and ocular" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276669" "04214" "00382813" "00000" "Familial, autosomal recessive" "21y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276670" "04214" "00382814" "00000" "Familial, autosomal recessive" "5y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276671" "04214" "00382815" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276672" "04214" "00382816" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276673" "04214" "00382817" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276674" "04214" "00382818" "00000" "Familial, autosomal recessive" "10y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276675" "04214" "00382819" "00000" "Familial, autosomal recessive" "4y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276676" "04214" "00382820" "00000" "Familial, autosomal recessive" "8y" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276677" "04214" "00382821" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276678" "04214" "00382822" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276679" "04214" "00382823" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276680" "04214" "00382824" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276681" "04214" "00382825" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276682" "04214" "00382826" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000276683" "04214" "00382827" "00000" "Familial, autosomal recessive" "" "molar tooth sign on MRI" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000277539" "04214" "00383754" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277540" "04214" "00383755" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000279021" "04214" "00385225" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279028" "04214" "00385232" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279047" "04214" "00385251" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279048" "04214" "00385252" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279052" "04214" "00385256" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279082" "04214" "00385286" "00000" "Familial, autosomal recessive" "4y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism, mental retardation" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000279083" "04214" "00385287" "00000" "Familial, autosomal recessive" "15y" "obesity, retinitis pigmentosa, polydactyly, hypogenitalism,mental retardation" "" "" "" "" "" "" "" "" "" "" "" "Bardet–Biedl Syndrome (BBS)" "" "0000281103" "04214" "00387540" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281106" "04214" "00387543" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281107" "04214" "00387544" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281134" "04214" "00387571" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281135" "04214" "00387572" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281136" "04214" "00387573" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281162" "04214" "00387599" "00000" "Familial" "" "" "" "" "1y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281163" "04214" "00387600" "00000" "Familial" "" "" "" "" "2y" "" "" "" "" "" "" "" "" "Meckel-Gruber and Joubert syndrome" "" "0000281617" "04214" "00388022" "00000" "Familial, autosomal recessive" "" "Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia" "" "" "5m" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281618" "04214" "00388023" "00000" "Familial, autosomal recessive" "" "Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia, respiratory abnormalities" "" "" "3y" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281619" "04214" "00388024" "00000" "Familial, autosomal recessive" "" "Hypotonia/ataxia, developmental delay/mental retardation," "" "" "2y" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281662" "04214" "00388068" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281691" "04214" "00388097" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281705" "04214" "00388111" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281706" "04214" "00388112" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281715" "04214" "00388121" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281728" "04214" "00388134" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281737" "04214" "00388144" "00000" "Unknown" "24y4m" "Nystagmus: 2Hz pendular N, best corrected visual acuity right eye/left eye: 0.2/0.3, fundus: Peripheral pigmentary retinopathy, ERG: Severely reduced, additional features: Developmental delay, Molar tooth sign, Cerebellar atrophy" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "Joubert syndrome" "" "0000283106" "04214" "00389565" "00000" "Familial, autosomal recessive" "54y" "age at genetic diagnosis mentioned" "" "" "" "53y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283699" "04214" "00390161" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284012" "04214" "00390474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000284323" "04214" "00390835" "00000" "Familial, autosomal recessive" "17y" "molar tooth sign, Retinal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000284324" "04214" "00390836" "00000" "Familial, autosomal recessive" "8y" "molar tooth sign, Retinal dystrophy" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000285069" "04214" "00391744" "00000" "Unknown" "" "" "" "" "0m" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000285070" "04214" "00391745" "00000" "Unknown" "" "best corrected visual acuity right/left eye: 20/60;20/60" "" "" "0m" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000285071" "04214" "00391746" "00000" "Unknown" "" "best corrected visual acuity right/left eye: light perception" "" "" "0m" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000285167" "04214" "00391866" "00000" "Isolated (sporadic)" "26y" "best corrected visual acuity right/left eye: 0.6/0.7; waxy pallor of the optic discs, narrowed vessels, atrophic retina with moderate bone spicules pigmentation. Macular region: mild pigmentary changes and shiny reflex. Fundus autofluorescence: hypofluorescent changes in the peripapillary area and along the arcades, reduced fluorescence in the macular areas, hyperautofluorescent changes in the papillomacular region, especially in the right eye (images in the right eye were obscured by some central vitreous opacities); spectral-domain optical coherence tomography: loss of ellipsoid zone outside the foveal area; Goldmann perimetry revealed a concentric constriction visual fields; electroretinography: severe generalized retinal dysfunction involving both rods and cones" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000285874" "04214" "00392627" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "Joubert syndrome" "" "0000288799" "04214" "00395601" "00000" "Familial, autosomal recessive" "" "horizontal nystagmus, myopia, oculomotor apraxia, rod-cone dystrophy, strabismus, cerebellar vermis hypoplasia, global developmental delay, hallucinations, intellectual disability, memory impairment, motor tics, hypertelorism, microretrognathia, wide nose" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "Joubert-like syndrome" "" "0000288803" "04214" "00395605" "00000" "Familial, autosomal recessive" "" "early onset rod-cone dystrophy, horizontal nystagmus, global developmental delay, gait imbalance, poor fine motor coordination, abnormal facial shape" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000288817" "04214" "00395619" "00000" "Familial, autosomal recessive" "" "abnormality of the optic nerve, congenital blindness, oculomotor apraxia, global developmental delay, generalized hypotonia" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "Joubert-like syndrome" "" "0000296546" "05611" "00403866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000299795" "04214" "00407648" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 0.6, extra-renal manifestations: none" "" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000300855" "04214" "00408736" "00000" "Familial, autosomal recessive" "" "molar tooth malformation: yes; cerebellar vermis aplasia/hypoplasia: yes; breathing abnormalities: yes; ataxia/hypotonia: yes; mental retardation: yes; oculomotor apraxia: yes; retinal involvement: not available; supratentorial abnormalities: enlarged lateral ventricle; no coloboma; kidney involvement: no" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300856" "04214" "00408737" "00000" "Familial, autosomal recessive" "" "molar tooth malformation: yes; cerebellar vermis aplasia/hypoplasia: yes; breathing abnormalities: not available; ataxia/hypotonia: yes; mental retardation: yes; oculomotor apraxia: yes; retinal involvement: Rod-cone dysfunction; supratentorial abnormalities: thin corpus collosum, frontal polymicrogyria; no coloboma; kidney involvement: no" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300857" "04214" "00408738" "00000" "Familial, autosomal recessive" "" "molar tooth malformation: yes; cerebellar vermis aplasia/hypoplasia: yes; breathing abnormalities: not available; ataxia/hypotonia: yes; mental retardation: yes; oculomotor apraxia: yes; retinal involvement: Rod-cone dysfunction; supratentorial abnormalities: thin corpus collosum, frontal polymicrogyriafrontal polymicrogyria; no coloboma; kidney involvement: no" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300858" "04214" "00408739" "00000" "Familial, autosomal recessive" "" "molar tooth malformation: yes; cerebellar vermis aplasia/hypoplasia: yes; breathing abnormalities: yes; ataxia/hypotonia: yes; mental retardation: yes; oculomotor apraxia: yes; retinal involvement: not available; supratentorial abnormalities: thin corpus collosum, possible frontal polymicrogyria; no coloboma; kidney involvement: not available" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300874" "05109" "00408759" "00000" "Familial, autosomal recessive" "20y" "cerebellar ataxia, psychomotor developmental delay, nystagmus and oculomotor apraxia; no renal symptoms, in particular no polyuria, did not develop renal insufficiency by 20y" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300875" "05109" "00408760" "00000" "Familial, autosomal recessive" "16y" "cerebellar ataxia, psychomotor developmental delay, nystagmus and oculomotor apraxia; salt and water-losing nephropathy leading to end-stage renal failure by the age of 16 years; renal ultrasound: corticomedullary cysts; renal biopsy: nephronophthisis" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300876" "05109" "00408761" "00000" "Familial, autosomal recessive" "" "retinal coloboma, no clinical evidence of nephronophthisis, no renal impairment" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300877" "05109" "00408762" "00000" "Familial, autosomal recessive" "12y" "hypotonia/ataxia, developmental delay, mental retardation, oculomotor apraxia, breathing abnormality: no; ocular signs: retinitis pigmentosa, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; no polymicrogyria; cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300878" "05109" "00408763" "00000" "Familial, autosomal recessive" "12y" "hypotonia/ataxia, developmental delay, mental retardation, oculomotor apraxia, breathing abnormality: no; ocular signs: retinitis pigmentosa, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; no polymicrogyria; cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300879" "05109" "00408764" "00000" "Familial, autosomal recessive" "1y" "hypotonia/ataxia, developmental delay, mental retardation, oculomotor apraxia, breathing abnormality: yes; ocular signs: retinitis pigmentosa; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; no polymicrogyria; cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300880" "05109" "00408765" "00000" "Familial, autosomal recessive" "10y" "hypotonia/ataxia, developmental delay, mental retardation, oculomotor apraxia, breathing abnormality: yes; ocular signs: none; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; no polymicrogyria; cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300881" "05109" "00408766" "00000" "Familial, autosomal recessive" "6m" "hypotonia/ataxia, developmental delay, mental retardation, oculomotor apraxia, breathing abnormality: yes; ocular signs: none; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; no polymicrogyria; cerebellar vermis hypoplasia; cavum septum pellucidum" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300882" "05109" "00408767" "00000" "Familial, autosomal recessive" "18y" "hypotonia/ataxia, developmental delay, mental retardation; no oculomotor apraxia; breathing abnormality; other abnormalities: none; ocular signs: Leber congenital amaurosis, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria; abnormal midline in occipital region with interdigitating gyri and mega cisterna magna" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300883" "05109" "00408768" "00000" "Familial, autosomal recessive" "2y" "hypotonia/ataxia, developmental delay, mental retardation; oculomotor apraxia; breathing abnormality; other abnormalities: none; ocular signs: Leber congenital amaurosis; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; macrocephaly; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria; corpus callosum abnormality and frontal atrophy" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300884" "05109" "00408769" "00000" "Familial, autosomal recessive" "1y6m" "hypotonia/ataxia, developmental delay, mental retardation; oculomotor apraxia; breathing abnormality; other abnormalities: seizures; ocular signs: Leber congenital amaurosis, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300885" "05109" "00408770" "00000" "Familial, autosomal recessive" "16y" "hypotonia/ataxia, developmental delay, mental retardation; oculomotor apraxia; breathing abnormality; other abnormalities: none; ocular signs: retinitis pigmentosa; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300886" "05109" "00408771" "00000" "Familial, autosomal recessive" "5y" "hypotonia/ataxia, developmental delay, mental retardation; oculomotor apraxia; no breathing abnormality; other abnormalities: none; ocular signs: retinitis pigmentosa; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300887" "05109" "00408772" "00000" "Familial, autosomal recessive" "30y" "hypotonia/ataxia, developmental delay, no mental retardation; oculomotor apraxia; no breathing abnormality; other abnormalities: spasticity; ocular signs: none, nystagmus; no renal abnormalities; no liver abnormalities ; no polydactyly; no cleft lip/palate; cerebellar vermis hypoplasia/molar tooth sign; no polymicrogyria; white matter abnormalities" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300888" "05109" "00408773" "00000" "Familial, autosomal recessive" "10y" "molar tooth sign; cerebellar dysplasia; no supratentorial anomalies; no enlarged 4th ventricle; ataxia: not evaluable; hypotonia; no walking; no oculomotor apraxia; abnormal eye movements; severe mental retardation; no language; no stereotypes; breathing anomalies; optic disc pallor; electroretinogram: not recordable" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300889" "05109" "00408774" "00000" "Familial, autosomal recessive" "" "mildly abnormal eye movements, horizontal/rotatory nystagmus, exoforia right eye, respiratory anomalies: episodic hyperpnea, central apneas (monitoring), kidney anomalies: none, liver anomalies: none; molar tooth si" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300890" "05109" "00408775" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, nystagmus, Leber congenital amaurosis, strabismus, vision 0.2, respiratory anomalies: episodic hyperpnea/ apnea, kidney anomalies: none, liver anomalies: none; molar tooth sign; other radiological anomalies: dysplasia of cerebellar cortex mildly dilated ventricular system; other anomalies" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300891" "05109" "00408776" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, horizontal and rotatory nystagmus, early onset retinitis pigmentosa, respiratory anomalies: short breath holding spells, kidney anomalies: none, liver anomalies: none; molar tooth sign; other radiological anomalies: hypoplasia of cerebellum, small mesencephalon; other anomalies: rudimentary extra nipple" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300892" "05109" "00408777" "00000" "Familial, autosomal recessive" "" "enophthalmos and intermittent ptosis of the right eye, respiratory anomalies: normal, kidney anomalies: none, liver anomalies: none; molar tooth sign" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300893" "05109" "00408778" "00000" "Familial, autosomal recessive" "" "strabismus, ptosis left eye, horizontal nystagmus, vision 0.2, retinal dystrophy, respiratory anomalies: episodic hyperpnea/apnea, kidney anomalies: none, liver anomalies: enlarged(?); molar tooth sign; other radiological anomalies: cortical dysplasia, abnormal gyration of left parietal lobe; other anomalies: scrotal hypospadia, bilat. retentio testis, bifid scrotum" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300894" "05109" "00408779" "00000" "Familial, autosomal recessive" "" "strabismus, roving eye movements, colobomas of retina and choroidea, respiratory anomalies: episodic hyperpnea/apnea, kidney anomalies: renal failure, extracorporeal haemodialysis, liver anomalies: impaired function; molar tooth sign - data not available; other radiological anomalies: vermis hypoplasia, hypoplasia of cerebellar hemispheres; other anomalies: scoliosis, Burkitt\'s lymphoma" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300895" "05109" "00408780" "00000" "Familial, autosomal recessive" "" "strabismus, saccadic eye movements, respiratory anomalies: episodic hyperpnea/ apnea, later continuous hyperpnea, kidney anomalies: pyelo-urethral stenosis and hydronephrosis right kidney, liver anomalies: enlarged(?); molar tooth sign; other radiological anomalies: underdevelopment of brainstem, dilatation of ventricular system, thin corpus callosum, polymicrogyria right frontal, parietal and occipital lobes; other anomalies: postaxial polydactyly left hand, micropenis" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300896" "05109" "00408781" "00000" "Familial, autosomal recessive" "" "opticus coloboma, strabismus, nystagmus, respiratory anomalies: episodic hyperpnea/ apnea, panting episodes, breath holding spells, kidney anomalies: nephronophthisis, liver anomalies: impaired function, fibrosis; molar tooth sign; other anomalies: hip luxation, esophageal varices (bleeding)" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300911" "05109" "00408792" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300912" "05109" "00408793" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300913" "05109" "00408794" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300914" "05109" "00408795" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300917" "05109" "00408798" "00000" "Familial, autosomal recessive" "" "no prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, no upturned nose, no anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300926" "05109" "00408807" "00000" "Familial, autosomal recessive" "" "prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic fibrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, ataxia, hypotonia, no occipital meningocele, typical magnetic resonance find" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300929" "05103" "00408810" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic deafness" "" "" "0000300930" "05109" "00408811" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300931" "05109" "00408812" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300933" "05109" "00408814" "00000" "Familial, autosomal recessive" "18y" "mental retardation, visual impairment, neonatal hypotonia, psychomotor delay, walked at 4y, very poor language skills; blood urea and creatinine: normal; normal growth parameters, bilateral horizontal nystagmus, ataxia; fundus: retinitis pigmentosa; Brain magnetic resonance: hypoplasia of the cerebellar vermis with a molar tooth sign" "" "" "" "" "mental retardation and visual impairment" "" "" "" "" "" "Joubert syndrome" "" "" "0000300934" "05109" "00408815" "00000" "Familial, autosomal recessive" "13y" "phenotype similar to proband III:1; psychomotor delay, poor language skills; walked at 2y" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300935" "05109" "00408816" "00000" "Familial, autosomal recessive" "10y" "phenotype similar to proband III:1; psychomotor delay and very poor language skills, walked at 3y" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000300936" "05109" "00408817" "00000" "Familial, autosomal recessive" "2y" "24d: erratic ocular movements suggestive of congenital torsional nystagmus, with a positive blink reflex, associated with tremor of the upper limbs; ocular media, fundus and optic disk: normal, pupils reactive to light symmetrically; neurology: rapid, jerky and irregular conjugated eye movements; the patient was alert and had normal flexor and extensor tone, head response to traction and response to ventral suspension; tendon and primitive reflexes and posture: normal, auditory response: positive; cranial nerve, motor and sensory function: normal" "" "" "24d" "" "absent fixation, nystagmus" "" "" "" "" "" "Joubert syndrome" "" "" "0000300947" "04214" "00408829" "00000" "Familial, autosomal recessive" "55y" "best corrected visual acuity right/left eye: 1/0.8, refraction right/left eye: +1.25/+0.75, color vision: Hardy-Rand-Rittler plates: both eyes: mild red-green defect, mild blue-yellow defect; Panel D-15: right eye: mild errors: no specific axis; left eye: saturated version: 1 error; desaturated version: tritan defect., funduscopy: mild pallor optic discs, attenuated vessels, yellowish discoloration of the macula with rpe changes, mid-perpiheral rpe atrophy with bone-spicule pigmentations, autofluoresence: spotty hypoautofluorescence in the macula encirceld by relative hyperautofluorescence, loss of autofluorescence along vascular arcades, optical coherence tomography: intact outer retina layers posterior pole, visual field: Goldmann: altitudinal defect (upper quadrants) with midperiheral absolute scotoma lower quadrants , electroretinogram: full field: dark adapted: remnant isolated rod responses, significantly reduced mixed responses with prolonged implicit times a-wave, normal implicit times b-wave. light adapted: 30 hz flicker: (mildly) reduced with prolonged implicit times, single flash responses: (mildly) reduced amplitudes with prolonged implicit times. generalised retinal dysfunction with rod-cone pattern." "" "" "53y" "" "" "significantly decreased protein level at the ciliary base" "" "" "" "" "retinitis pigmentosa" "" "" "0000300948" "04214" "00408830" "00000" "Familial, autosomal recessive" "38y" "best corrected visual acuity right/left eye: 1.8/1.8, refraction right/left eye: -7.75 DS (spherical equivalent)/-7.25 DS (spherical equivalent) , color vision: not performed, funduscopy: cataract surgery 2012 both eyes (posterior subcapsular cataract). pale discs, attenuated vessels, widespread retinal atrophy, no increased pigmentary change both eyes, left macula demarcated circular chorioretinal atrophy lesion , autofluoresence: small island central autofluorescence remaining (2005 imaging), loss of autofluorescence corresponding to atrophy, loss of any residual normal autofluorescence (2014 imaging), optical coherence tomography: extensive loss of outer retinal layers both eyes , visual field: Humphrey Field Analyser: 30-2 programm (2006) MD R -30.28DB, L -30.17DB, generalised field loss, central 10 degrees better preserved, electroretinogram: pattern electroretinogram probably undetectable both eyes. full field: rod specific electroretinogram undetectable. cone flicker reduced amplitude and profoundly delayed, photopic single flash reduced amplitude and markedly delayed. moderately severe generalised retinal dysfunction involving both rod and cone systems." "" "" "27y" "" "" "significantly decreased protein level at the ciliary base" "" "" "" "" "retinitis pigmentosa" "" "" "0000300949" "04214" "00408831" "00000" "Familial, autosomal recessive" "39y" "best corrected visual acuity right/left eye: 0.2/0.2, refraction right/left eye: myope/myope, color vision: Hardy-Rand-Rittler plates: mild red-green defect , funduscopy: posterior subcapsular cataract both eyes. myopic changes (tilted discs, peripapillary atrophy) both eyes. disc pallor and peripheral pigmentary retinopathy. , autofluoresence: ring of increased autofluorescence both maculae, reduced autofluorescence mid-peripheries , optical coherence tomography: centrally preserved inner segment ellipsoid band both eyes , visual field: not performed, electroretinogram: pattern electroretinogram markedly reduced bilaterally. full field: rod electroretinograms are severely reduced bilaterally, bright flash electroretinogram a waves are markedly reduced r>l, flicker electroretinograms are markedly delayed bilaterally and markedly reduced r>l, single flash electroretinograms are reduced bilaterally r>l. consistent with moderately severe generalised retinal dysfunction in which rods are slightly more affected than cones and right eye is slightly more affected than left eye." "" "" "37y" "" "" "significantly decreased protein level at the ciliary base" "" "" "" "" "retinitis pigmentosa" "" "" "0000300952" "05109" "00408833" "00000" "Familial, autosomal recessive" "" "40y" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000301080" "05109" "00408962" "00000" "Familial, autosomal recessive" "" "fetal cerebellar vermis hypoplasia (CV missing with the fourth ventricle communicating with the posterior fossa; molar tooth sign on the axial plane made up of the brain stem and bilaterally thickened, elongated superior cerebellar peduncle; the shape of the fourth ventricle changed and enlarged in the midsagittal section without a fastigium; molar tooth sign was observed at the pontomesencephalic level; dilated cisterna magna measuring 1.7 cm; in the midsagittal section, remnant of the superior cerebellar vermis; fourth ventricle was enlarged and communicating with the cisterna magna" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000301081" "05109" "00408963" "00000" "Familial, autosomal recessive" "" "27y" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000301082" "05109" "00408964" "00000" "Familial, autosomal recessive" "61y" "56y: progressive decline in estimated glomerular filtration rate (eGFR) over the previous 5 years; ultrasound: increased echogenicity of the kidneys, loss of corticomedullary differentiation and multiple, bilateral small cortical cysts history of moderate learning difficulties and retinal dystrophy, shallow and fast breathing pattern in early infancy, no episodes of apnoea, nystagmus was also noted in infancy, cerebral palsy was thought to be the cause of her failure to meet early developmental milestones; slow progress at a special needs school; visual impairment identified in her late 20s; 32y: diagnosis of retinal dystrophy (rod-cone dystrophy); surgery for bilateral cataracts in her 40s;magnetic resonance: classical molar tooth sign; 58y: hospital haemodialysis when S creatinine had reached 490 mmol/L; awaiting a renal transplant" "" "" "51y" "" "decline in renal function" "" "" "" "" "" "Joubert syndrome" "" "" "0000301083" "05109" "00408965" "00000" "Familial, autosomal recessive" "1y5m" "neurological examination: hypotonia, global developmental delay, oculomotor apraxia, bilateral horizontal nystagmus, poor head control and tachypnea improved with age; poor emotional status up to age 7m; unaided sitting 14m with rehabilitation therapy; growth milestones relative delay at 1y; brain magnetic resonance:thickened and elongated superior cerebellar peduncles, deepened interpeduncular fossa and cerebellar vermis aplasia, all resulting in the molar tooth sign appearance and a slightly dilated fourth ventricle; characteristic physical features: frontal bossing, bitemporal narrowing and nasal bridge depression, high arched eyebrows, open mouth, tongue protrusion, profuse salivation and clinodactyly of the fifth finger; no retinal involvement or low vision; abdominal ultrasound and laboratory results, urinary findings, blood urea and creatinine: normal" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000301084" "05109" "00408966" "00000" "Familial, autosomal recessive" "17y" "delayed motor and cognitive milestones; neonatal episodic hyperpnea and hypotonia in early childhood; neurological examination: inability to initiate voluntary saccades in a head-fixed position, while saccades can be initiated by the vestibulo-ocular reflex, which is suggestive of oculomotor apraxia and truncal ataxia. Brain magnetic resonance imaging: cerebellar vermis hypoplasia, mesencephalon, and superior cerebellar peduncles - typical molar tooth sign; 15y psychiatric symptoms: repetitive questions, extreme anxiety and anger when not answered, worrying about getting sick; .evaluation: moderate intellectual disability and obsessive-compulsive disorder; retinal examination and abdominal ultrasonography: normal (retinal dystrophy, ocular coloboma, cystic renal disease, and hepatic fibrosis were excluded)" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000301085" "00198" "00408967" "00000" "Familial, autosomal recessive" "" "strabismus" "" "" "" "" "" "" "" "" "" "" "unclassified /��" "" "" "0000301086" "00198" "00408968" "00000" "Familial, autosomal recessive" "" "strabismus" "" "" "" "" "" "" "" "" "" "" "unclassified /��" "" "" "0000301087" "05109" "00408969" "00000" "Familial, autosomal recessive" "" "cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "" "0000301089" "05109" "00408971" "00000" "Familial, autosomal recessive" "31y" "29y: walking imbalance; head raising at 3 months, sitting at 6 months, standing at 14 months, walking at 24 months; 2y: found it difficult to track and find toys; 5y: diagnosed with macular degeneration because of night blindness and findings of fundoscopy at an ophthalmic clinic; 31y: uncorrected visual acuity right/left eye: 0.1 / 0.09; best corrected visual acuity both eyes: 0.5; treated with vitamin B12, B1, and B6 during the following 24 years; visual acuity remained stable but the visual field continued constricting; 29y: intention tremors and walking imbalance; no ability to ride a bicycle because of the narrowed visual field, retained ability to walk down the stairs without holding rails; normal intelligence (currently working as a bank staff), no polydactyly; 31y physical examination on admission: tubular visual field, decreased smooth pursuit, slight nystagmus on bilateral gaze; muscle strength and tension: normal, slight intention tremor on finger-nose pointing, unstable at toe -heel walking and straight walking; mental and cognitive assessment: normal; blood tests, (complete blood count, liver and kidney function, electrolytes, creatine kinase, and lactic acid): normal; electrocardiogram, electroencephalogram, abdominal and kidney ultrasound: normal; ophthalmology examinations: tubular visual field, funduscopy: retinal pigmentation; optical coherence tomography: retinal nerve fiber layer thinning; brain magnetic resonance imaging: molar tooth sign in the midbrain and cauda cerebelli hypoplasia" "" "" "2y" "" "poor vision" "" "" "" "" "" "Joubert syndrome" "macular degeneration" "" "0000318082" "04214" "00426944" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000318919" "00198" "00427973" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome 3" "" "" "0000319165" "00920" "00428260" "01164" "Familial, autosomal recessive" "06y" "Global developmental delay, Intellectual disability, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Protruding tongue, Neoplasm of the skin, Hypotonia, Strabismus, Absent speech" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320917" "00112" "00430045" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320932" "00112" "00430060" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320986" "00112" "00430114" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333504" "04214" "00444251" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis," "" "0000336791" "00198" "00447592" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000350758" "00198" "00465222" "00006" "Familial, autosomal recessive" "00y00m01d" "see paper; ..., 22wg-fetal growth retardation, severe microcephaly (−6ZS), ponto-cerebellar hypoplasia; birth 39wg, weight lower normal range (1860 g), 30 min-deceased; hypertrichosis, facial dysmorphism (low-set ears, hypertelorism, macrostomia, retromicrognathia; multiple joint contractures, restricted limb movements, lower limbs remained permanently in hyperextension; no fetal autopsy" "" "" "" "" "" "" "" "" "" "" "" "fetal growth retardation, severe microcephaly, ponto-cerebellar hypoplasia" "" "0000350759" "00198" "00465223" "00006" "Familial, autosomal recessive" "00y00m00d" "see paper; ..., 13wg-antenatal ultrasound microcephaly, lower limb in hyperextension; birth 37wg, weight 1760 g, microcephaly (OFC 24.5 cm), incomplete Pierre Robin sequence (mandibular hypoplasia, glossoptosis, upper airway obstruction without cleft palate), clubfoot, camptodactylia, pulmonary hypoplasia; deceased minutes after birth, limbs malformation, severe microcephaly, dysmorphic features face (broad nasal root, flat face, deep crease philtrum, long thin upper lip, large ears), brain impairment cortical development, absence of layer organisation, deep columns of defective migrating cells" "" "" "" "" "" "" "" "" "" "" "" "fetal anomalies" "" "0000350849" "05109" "00465296" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "JBTS3" "Joubert syndrome" "" "0000350854" "05109" "00465301" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "JBTS3" "Joubert syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 241 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000036" "00000036" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000039" "00000039" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000053" "00000053" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000066" "00000066" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000069" "00000069" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000087" "00000087" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000094" "00000094" "1" "00004" "" "2012-05-11 13:19:21" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000096" "00000096" "1" "00004" "" "2012-05-11 13:19:25" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000028942" "00028912" "1" "01188" "01188" "2015-01-05 13:30:53" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028943" "00028913" "1" "01188" "01188" "2015-01-05 14:09:41" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028944" "00028914" "1" "01188" "01188" "2015-01-05 14:13:39" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000028945" "00028915" "1" "01188" "01188" "2015-01-05 14:21:43" "" "" "SEQ-NG-S" "DNA" "blood" "" "0000033164" "00033096" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033405" "00033337" "1" "00010" "00010" "2012-05-17 20:07:54" "00006" "2012-05-18 14:03:26" "PCR;SEQ" "DNA" "" "" "0000056003" "00056048" "1" "00552" "00552" "2015-12-08 16:48:17" "" "" "SEQ-NG" "DNA" "" "" "0000056004" "00056049" "1" "00552" "00552" "2015-12-08 16:51:40" "" "" "SEQ-NG" "DNA" "" "" "0000081213" "00081101" "1" "01763" "01763" "2016-09-13 16:59:10" "" "" "SEQ-NG" "DNA" "" "" "0000156242" "00155377" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000241532" "00240422" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000270575" "00269432" "1" "03508" "03508" "2019-11-26 23:33:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000271043" "00269890" "1" "01807" "01807" "2019-12-10 12:31:49" "" "" "SEQ" "DNA" "" "" "0000295153" "00293985" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295154" "00293986" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295155" "00293987" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295156" "00293988" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295157" "00293989" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300751" "00299641" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 09:16:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000309858" "00308713" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000310083" "00308938" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310084" "00308939" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000312165" "00311013" "1" "03787" "03787" "2020-09-14 06:17:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000325752" "00324518" "1" "03957" "03957" "2020-12-19 10:24:59" "" "" "SEQ-NG" "DNA" "-" "gene panel" "0000326626" "00325415" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326704" "00325493" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329164" "00327949" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329222" "00328007" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000333414" "00332194" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333509" "00332289" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000334684" "00333459" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000336311" "00335082" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360088" "00358856" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360091" "00358859" "1" "00000" "00006" "2021-03-16 16:48:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362803" "00361575" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000364622" "00363394" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364629" "00363401" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373336" "00372107" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373337" "00372108" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373338" "00372109" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373339" "00372110" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373340" "00372111" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373341" "00372112" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373342" "00372113" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373343" "00372114" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373344" "00372115" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373345" "00372116" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373346" "00372117" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373347" "00372118" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373348" "00372119" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373349" "00372120" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373350" "00372121" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373351" "00372122" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373352" "00372123" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373353" "00372124" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373354" "00372125" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373355" "00372126" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373356" "00372127" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373357" "00372128" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373358" "00372129" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373359" "00372130" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373360" "00372131" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373361" "00372132" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373362" "00372133" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373363" "00372134" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373364" "00372135" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373365" "00372136" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373366" "00372137" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373367" "00372138" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373368" "00372139" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373369" "00372140" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373600" "00372371" "1" "00000" "00006" "2021-05-07 09:26:25" "" "" "SEQ" "DNA" "" "27-gene panel" "0000374628" "00373393" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000374633" "00373398" "1" "00000" "00006" "2021-05-14 11:33:21" "" "" "SEQ-NG" "DNA" "" "22-gene panel" "0000374985" "00373752" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374994" "00373761" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374995" "00373762" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374996" "00373763" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374997" "00373764" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374998" "00373765" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000374999" "00373766" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375008" "00373775" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375010" "00373777" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375015" "00373782" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375017" "00373784" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375019" "00373786" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375020" "00373787" "1" "00008" "00008" "2021-05-19 21:57:41" "" "" "SEQ" "DNA" "" "" "0000375375" "00374181" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375376" "00374182" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375377" "00374183" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375843" "00374649" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375844" "00374650" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376165" "00374971" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000378858" "00377654" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378859" "00377655" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378860" "00377656" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378861" "00377657" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378862" "00377658" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378863" "00377659" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378975" "00377771" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000379124" "00377920" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000380783" "00379584" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000380791" "00379592" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "PCR;SEQ" "DNA" "blood" "" "0000380826" "00379627" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000381569" "00380355" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381579" "00380365" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000384025" "00382809" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384026" "00382810" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384027" "00382811" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384028" "00382812" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384029" "00382813" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384030" "00382814" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384031" "00382815" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384032" "00382816" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384033" "00382817" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384034" "00382818" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384035" "00382819" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384036" "00382820" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384037" "00382821" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384038" "00382822" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384039" "00382823" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384040" "00382824" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384041" "00382825" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384042" "00382826" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384043" "00382827" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "PCR;SEQ" "DNA" "blood" "" "0000384979" "00383754" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000384980" "00383755" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000386454" "00385225" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386461" "00385232" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386480" "00385251" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386481" "00385252" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386485" "00385256" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386515" "00385286" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000386516" "00385287" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "SEQ" "DNA" "" "targeted exon capture strategy" "0000388766" "00387540" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388769" "00387543" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388770" "00387544" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388797" "00387571" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388798" "00387572" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388799" "00387573" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "arraySNP;SEQ-NG;PCR" "DNA" "blood" "" "0000388825" "00387599" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000388826" "00387600" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;PCR" "DNA" "blood" "" "0000389261" "00388022" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389262" "00388023" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389263" "00388024" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389307" "00388068" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389336" "00388097" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389350" "00388111" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389351" "00388112" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389360" "00388121" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389373" "00388134" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389383" "00388144" "1" "00000" "03840" "2021-11-02 11:59:44" "" "" "SEQ-NG" "DNA" "blood" "targeted panel-based next-generation sequencing, including deep intronic and regulatory variants or whole exome sequencing" "0000390808" "00389565" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391402" "00390161" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391715" "00390474" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392076" "00390835" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ-NG" "DNA" "" "" "0000392077" "00390836" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ-NG" "DNA" "" "" "0000392985" "00391744" "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" "0000392986" "00391745" "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" "0000392987" "00391746" "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" "0000393108" "00391866" "1" "00000" "03840" "2021-11-19 12:39:43" "" "" "SEQ-NG" "DNA" "blood" "whole genome seuqencing with phasing analysis" "0000393874" "00392627" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000396839" "00395601" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396843" "00395605" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000396857" "00395619" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing" "0000405104" "00403866" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000408900" "00407648" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000410000" "00408736" "1" "00000" "03840" "2022-04-26 20:47:02" "" "" "STR;SEQ" "DNA" "blood" "" "0000410001" "00408737" "1" "00000" "03840" "2022-04-26 20:47:02" "" "" "STR;SEQ" "DNA" "blood" "" "0000410002" "00408738" "1" "00000" "03840" "2022-04-26 20:47:02" "" "" "STR;SEQ" "DNA" "blood" "" "0000410003" "00408739" "1" "00000" "03840" "2022-04-26 20:47:02" "" "" "STR;SEQ" "DNA" "blood" "" "0000410020" "00408759" "1" "00000" "03840" "2022-04-27 10:01:34" "" "" "STR;SEQ" "DNA" "blood" "" "0000410021" "00408760" "1" "00000" "03840" "2022-04-27 10:01:34" "" "" "STR;SEQ" "DNA" "blood" "" "0000410022" "00408761" "1" "00000" "03840" "2022-04-27 10:01:34" "" "" "SEQ" "DNA" "blood" "" "0000410023" "00408762" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410024" "00408763" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410025" "00408764" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410026" "00408765" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410027" "00408766" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410028" "00408767" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410029" "00408768" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410030" "00408769" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410031" "00408770" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410032" "00408771" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410033" "00408772" "1" "00000" "03840" "2022-04-27 13:11:01" "" "" "DHPLC;SEQ" "DNA" "blood" "" "0000410034" "00408773" "1" "00000" "03840" "2022-04-27 14:45:40" "00006" "2022-04-28 10:22:03" "SEQ" "DNA" "blood" "" "0000410035" "00408774" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410036" "00408775" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410037" "00408776" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410038" "00408777" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410039" "00408778" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410040" "00408779" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410041" "00408780" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410042" "00408781" "1" "00000" "03840" "2022-04-27 16:30:10" "" "" "SEQ" "DNA" "blood" "" "0000410057" "00408792" "1" "00000" "03840" "2022-04-28 11:47:07" "" "" "?" "DNA" "" "in vitro study" "0000410058" "00408793" "1" "00000" "03840" "2022-04-28 11:47:07" "" "" "?" "DNA" "" "in vitro study" "0000410059" "00408794" "1" "00000" "03840" "2022-04-28 11:47:07" "" "" "?" "DNA" "" "in vitro study" "0000410060" "00408795" "1" "00000" "03840" "2022-04-28 11:47:07" "" "" "?" "DNA" "" "in vitro study" "0000410063" "00408798" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410072" "00408807" "1" "00000" "03840" "2022-04-28 12:52:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410075" "00408810" "1" "00000" "03840" "2022-04-28 13:21:18" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410076" "00408811" "1" "00000" "03840" "2022-04-28 13:21:18" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410077" "00408812" "1" "00000" "03840" "2022-04-28 13:21:18" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410079" "00408814" "1" "00000" "03840" "2022-04-28 13:58:18" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410080" "00408815" "1" "00000" "03840" "2022-04-28 13:58:18" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410081" "00408816" "1" "00000" "03840" "2022-04-28 13:58:18" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410082" "00408817" "1" "00000" "03840" "2022-04-28 14:50:45" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410092" "00408829" "1" "00000" "03840" "2022-04-28 19:35:04" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410093" "00408830" "1" "00000" "03840" "2022-04-28 19:35:04" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410094" "00408831" "1" "00000" "03840" "2022-04-28 19:35:04" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000410098" "00408833" "1" "00000" "03840" "2022-04-28 20:52:25" "" "" "?" "DNA" "Dermal fibroblasts" "exome sequencing" "0000410227" "00408962" "1" "00000" "03840" "2022-04-29 09:53:02" "" "" "?" "DNA" "" "exome sequencing" "0000410228" "00408963" "1" "00000" "03840" "2022-04-29 10:00:51" "" "" "?" "DNA" "Dermal fibroblasts" "exome sequencing" "0000410229" "00408964" "1" "00000" "03840" "2022-04-29 10:18:19" "" "" "SEQ-NG" "DNA" "" "retinal panel sequencing" "0000410230" "00408965" "1" "00000" "03840" "2022-04-29 10:47:09" "" "" "SEQ-NG" "DNA" "" "retinal panel sequencing" "0000410231" "00408966" "1" "00000" "03840" "2022-04-29 13:57:35" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing" "0000410232" "00408967" "1" "00000" "03840" "2022-04-29 14:52:39" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000410233" "00408968" "1" "00000" "03840" "2022-04-29 14:52:39" "" "" "SEQ" "DNA" "blood" "exome sequencing" "0000410234" "00408969" "1" "00000" "03840" "2022-04-29 15:13:02" "" "" "SEQ-NG" "DNA" "" "targeted capture and next generation sequencing" "0000410236" "00408971" "1" "00000" "03840" "2022-04-29 15:34:19" "" "" "SEQ-NG" "DNA" "" "targeted capture and next generation sequencing" "0000428264" "00426944" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000429386" "00427973" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000429671" "00428260" "1" "01164" "01164" "2022-12-28 15:02:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000431458" "00430045" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431473" "00430060" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431527" "00430114" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000445825" "00444251" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000449169" "00447592" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000466872" "00465222" "1" "00006" "00006" "2025-04-17 19:36:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466873" "00465223" "1" "00006" "00006" "2025-04-17 19:55:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466944" "00465296" "1" "00006" "00006" "2025-05-06 17:05:36" "" "" "SEQ-NG" "DNA" "" "" "0000466949" "00465301" "1" "00006" "00006" "2025-05-08 15:14:50" "" "" "MLPA;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 350 "{{screeningid}}" "{{geneid}}" "0000000036" "AHI1" "0000000036" "ATP7B" "0000000036" "CYP21A2" "0000000036" "DPYD" "0000000036" "ETFB" "0000000036" "GLB1" "0000000036" "HEXB" "0000000036" "LAMA2" "0000000036" "SMPD1" "0000000039" "AHI1" "0000000039" "ATP7B" "0000000039" "DPYD" "0000000039" "ETFB" "0000000039" "GAA" "0000000039" "GLB1" "0000000039" "LAMA2" "0000000039" "MTHFR" "0000000039" "NPHP4" "0000000039" "NPHS1" "0000000039" "P3H1" "0000000039" "SBDS" "0000000039" "SLC26A2" "0000000051" "AGXT" "0000000051" "AHI1" "0000000051" "ATP7B" "0000000051" "DPYD" "0000000051" "ETFB" "0000000051" "FAH" "0000000051" "GALC" "0000000051" "GLB1" "0000000051" "IGHMBP2" "0000000051" "MYO5A" 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"AHI1" "0000389373" "AHI1" "0000389383" "AHI1" "0000390808" "AHI1" "0000391402" "AHI1" "0000391715" "AHI1" "0000392076" "AHI1" "0000392077" "AHI1" "0000392985" "AHI1" "0000392986" "AHI1" "0000392987" "AHI1" "0000393108" "AHI1" "0000393874" "AHI1" "0000396839" "AHI1" "0000396843" "AHI1" "0000396857" "AHI1" "0000408900" "AHI1" "0000410000" "AHI1" "0000410001" "AHI1" "0000410002" "AHI1" "0000410003" "AHI1" "0000410020" "AHI1" "0000410021" "AHI1" "0000410022" "AHI1" "0000410023" "AHI1" "0000410024" "AHI1" "0000410025" "AHI1" "0000410026" "AHI1" "0000410027" "AHI1" "0000410028" "AHI1" "0000410029" "AHI1" "0000410030" "AHI1" "0000410031" "AHI1" "0000410032" "AHI1" "0000410033" "AHI1" "0000410034" "AHI1" "0000410035" "AHI1" "0000410036" "AHI1" "0000410037" "AHI1" "0000410038" "AHI1" "0000410039" "AHI1" "0000410040" "AHI1" "0000410041" "AHI1" "0000410042" "AHI1" "0000410057" "AHI1" "0000410058" "AHI1" "0000410059" "AHI1" "0000410060" "AHI1" "0000410063" "AHI1" "0000410072" "AHI1" "0000410075" "AHI1" "0000410076" "AHI1" "0000410077" "AHI1" "0000410079" "AHI1" "0000410080" "AHI1" "0000410081" "AHI1" "0000410082" "AHI1" "0000410092" "AHI1" "0000410093" "AHI1" "0000410094" "AHI1" "0000410098" "AHI1" "0000410227" "AHI1" "0000410228" "AHI1" "0000410229" "AHI1" "0000410230" "AHI1" "0000410231" "AHI1" "0000410232" "AHI1" "0000410233" "AHI1" "0000410234" "AHI1" "0000410236" "AHI1" "0000428264" "MYO7A" "0000429671" "AHI1" "0000431458" "AHI1" "0000431473" "AHI1" "0000431527" "AHI1" ## 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 = 518 "{{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}}" "0000001093" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "00002" "AHI1_000006" "g.135751024G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135429886G>A" "" "VUS" "" "0000001094" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "00002" "AHI1_000006" "g.135751024G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135429886G>A" "" "VUS" "" "0000001095" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "00002" "AHI1_000006" "g.135751024G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135429886G>A" "" "VUS" "" "0000001096" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "00002" "AHI1_000006" "g.135751024G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135429886G>A" "" "VUS" "" "0000001097" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "00002" "AHI1_000006" "g.135751024G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135429886G>A" "" "VUS" "" "0000001098" "0" "50" "6" "135644371" "135644371" "subst" "0.00366604" "00002" "AHI1_000007" "g.135644371T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135323233T>C" "" "VUS" "" "0000001099" "0" "50" "6" "135644371" "135644371" "subst" "0.00366604" "00002" "AHI1_000007" "g.135644371T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135323233T>C" "" "VUS" "" "0000001100" "0" "90" "6" "135732497" "135732497" "subst" "0" "00002" "AHI1_000003" "g.135732497C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135411359C>A" "" "pathogenic" "" "0000001101" "0" "50" "6" "135778794" "135778794" "subst" "0.000853187" "00002" "AHI1_000004" "g.135778794T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135457656T>C" "" "VUS" "" "0000052242" "1" "70" "6" "135754182" "135754183" "ins" "0" "01188" "AHI1_000005" "g.135754182_135754183insT" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "" "" "0" "" "" "g.135433044_135433045insT" "" "likely pathogenic" "" "0000052243" "2" "70" "6" "135778798" "135778798" "subst" "4.06279E-6" "01188" "AHI1_000009" "g.135778798G>A" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "" "rs201391050" "0" "" "" "g.135457660G>A" "" "likely pathogenic" "" "0000052244" "2" "70" "6" "135776913" "135776913" "subst" "4.31771E-6" "01188" "AHI1_000010" "g.135776913G>A" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "rs121434349" "0" "" "" "g.135455775G>A" "" "likely pathogenic" "" "0000052245" "1" "70" "6" "135784283" "135784284" "dup" "0" "01188" "AHI1_000008" "g.135784283_135784284dup" "" "{PMID:Kroes 2016:25920555}" "" "910_911dup" "" "Unknown" "?" "" "0" "" "" "g.135463145_135463146dup" "" "likely pathogenic" "" "0000052246" "2" "70" "6" "135784283" "135784284" "dup" "0" "01188" "AHI1_000008" "g.135784283_135784284dup" "" "{PMID:Kroes 2016:25920555}" "" "910_911dup, also reported as g.135784283insT" "" "Unknown" "?" "" "0" "" "" "g.135463145_135463146dup" "" "likely pathogenic" "" "0000052247" "1" "70" "6" "135754373" "135754376" "del" "0" "01188" "AHI1_000011" "g.135754373_135754376del" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Unknown" "?" "" "0" "" "" "g.135433235_135433238del" "" "likely pathogenic" "" "0000052248" "3" "70" "6" "135644371" "135644371" "subst" "0.00366604" "01188" "AHI1_000007" "g.135644371T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "?" "rs148000791" "0" "" "" "g.135323233T>C" "" "likely pathogenic" "" "0000059087" "2" "10" "6" "135732465" "135732479" "delins" "0" "00229" "AHI1_000001" "g.135732465_135732479delinsTTTAAAACTTTAAAAAAGTC" "" "{PMID:Neveling 2012:22334370}" "" "2961+7_21delins20" "predicted benign" "Germline" "" "" "0" "" "" "g.135411327_135411341delinsTTTAAAACTTTAAAAAAGTC" "" "benign" "" "0000059088" "1" "10" "6" "135732465" "135732479" "delins" "0" "00229" "AHI1_000001" "g.135732465_135732479delinsTTTAAAACTTTAAAAAAGTC" "" "{PMID:Neveling 2012:22334370}" "" "2961+7_21delins20" "predicted benign" "Germline" "" "" "0" "" "" "g.135411327_135411341delinsTTTAAAACTTTAAAAAAGTC" "" "benign" "" "0000059089" "10" "90" "6" "135776888" "135776888" "subst" "0" "00010" "AHI1_000002" "g.135776888A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135455750A>T" "" "pathogenic" "" "0000059090" "20" "90" "6" "135776888" "135776888" "subst" "0" "00010" "AHI1_000002" "g.135776888A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135455750A>T" "" "pathogenic" "" "0000086039" "0" "90" "6" "135759567" "135759567" "del" "0" "00552" "AHI1_000012" "g.135759567del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.135438429del" "" "pathogenic" "" "0000086040" "3" "90" "6" "135749896" "135749896" "del" "0" "00552" "AHI1_000013" "g.135749896del" "" "{PMID:Watson 2016:26729329}, {DOI:Watson 2016:10.1186/s12881-015-0265-z}" "" "" "" "Germline" "" "" "0" "" "" "g.135428758del" "" "pathogenic" "" "0000129976" "1" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "01763" "AHI1_000014" "g.135754257C>T" "" "{CV:RCV000144464.2}" "" "" "" "Germline" "" "rs587783013" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000129977" "2" "70" "6" "135754173" "135754173" "subst" "0" "01763" "AHI1_000015" "g.135754173T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135433035T>A" "" "likely pathogenic" "" "0000246456" "0" "10" "6" "135768239" "135768239" "subst" "9.76952E-5" "02330" "AHI1_000048" "g.135768239A>G" "" "" "" "AHI1(NM_001134831.2):c.1686T>C (p.H562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135447101A>G" "" "benign" "" "0000246494" "0" "10" "6" "135732471" "135732471" "subst" "0.0109471" "02330" "AHI1_000076" "g.135732471A>T" "" "" "" "AHI1(NM_001134831.2):c.2961+15T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411333A>T" "" "benign" "" "0000250688" "0" "10" "6" "135754208" "135754208" "subst" "0.0238961" "02326" "AHI1_000043" "g.135754208A>G" "" "" "" "AHI1(NM_001134831.1):c.2223T>C (p.D741=), AHI1(NM_017651.4):c.2223T>C (p.D741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433070A>G" "" "benign" "" "0000251374" "0" "10" "6" "135768390" "135768390" "subst" "0" "02326" "AHI1_000051" "g.135768390A>T" "" "" "" "AHI1(NM_017651.4):c.1627-92T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135447252A>T" "" "benign" "" "0000253040" "0" "10" "6" "135754208" "135754208" "subst" "0.0238961" "01943" "AHI1_000043" "g.135754208A>G" "" "" "" "AHI1(NM_001134831.1):c.2223T>C (p.D741=), AHI1(NM_017651.4):c.2223T>C (p.D741=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433070A>G" "" "benign" "" "0000254312" "0" "30" "6" "135774514" "135774514" "subst" "5.85521E-5" "01943" "AHI1_000054" "g.135774514A>G" "" "" "" "AHI1(NM_001134831.1):c.1405T>C (p.C469R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135453376A>G" "" "likely benign" "" "0000254333" "0" "30" "6" "135778793" "135778793" "subst" "0.000146251" "01943" "AHI1_000057" "g.135778793A>G" "" "" "" "AHI1(NM_001134831.1):c.990T>C (p.D330=), AHI1(NM_001134831.2):c.990T>C (p.D330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135457655A>G" "" "likely benign" "" "0000257434" "0" "10" "6" "135768245" "135768245" "subst" "0.000228878" "02330" "AHI1_000049" "g.135768245T>C" "" "" "" "AHI1(NM_001134831.2):c.1680A>G (p.P560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135447107T>C" "" "benign" "" "0000257435" "0" "10" "6" "135763841" "135763841" "subst" "0.000752142" "02330" "AHI1_000046" "g.135763841G>A" "" "" "" "AHI1(NM_001134831.1):c.1791C>T (p.I597=), AHI1(NM_001134831.2):c.1791C>T (p.I597=), AHI1(NM_017651.4):c.1791C>T (p.I597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135442703G>A" "" "benign" "" "0000257436" "0" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "02330" "AHI1_000014" "g.135754257C>T" "" "" "" "AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_001134831.2):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000257437" "0" "10" "6" "135754156" "135754156" "subst" "3.25523E-5" "02330" "AHI1_000041" "g.135754156C>T" "" "" "" "AHI1(NM_001134831.2):c.2266+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433018C>T" "" "benign" "" "0000257438" "0" "10" "6" "135751145" "135751145" "subst" "0" "02330" "AHI1_000038" "g.135751145T>C" "" "" "" "AHI1(NM_001134831.2):c.2374-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135430007T>C" "" "benign" "" "0000257439" "0" "10" "6" "135749885" "135749885" "subst" "0.00374786" "02330" "AHI1_000080" "g.135749885C>T" "" "" "" "AHI1(NM_001134831.1):c.2505G>A (p.R835=), AHI1(NM_001134831.2):c.2505G>A (p.R835=), AHI1(NM_017651.4):c.2505G>A (p.R835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135428747C>T" "" "benign" "" "0000257440" "0" "10" "6" "135732649" "135732649" "subst" "0.00398903" "02330" "AHI1_000033" "g.135732649T>C" "" "" "" "AHI1(NM_001134831.1):c.2798A>G (p.Y933C), AHI1(NM_001134831.2):c.2798A>G (p.Y933C), AHI1(NM_017651.4):c.2798A>G (p.Y933C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411511T>C" "" "benign" "" "0000257441" "0" "10" "6" "135732639" "135732639" "subst" "0.000139772" "02330" "AHI1_000032" "g.135732639T>C" "" "" "" "AHI1(NM_001134831.1):c.2808A>G (p.T936=), AHI1(NM_001134831.2):c.2808A>G (p.T936=), AHI1(NM_017651.4):c.2808A>G (p.T936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411501T>C" "" "benign" "" "0000257442" "0" "50" "6" "135732502" "135732502" "subst" "0.000411037" "02330" "AHI1_000031" "g.135732502C>A" "" "" "" "AHI1(NM_001134831.2):c.2945G>T (p.R982M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411364C>A" "" "VUS" "" "0000257443" "0" "10" "6" "135732469" "135732470" "del" "0.0109654" "02330" "AHI1_000030" "g.135732469_135732470del" "" "" "" "AHI1(NM_001134831.2):c.2961+16_2961+17delGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411331_135411332del" "" "benign" "" "0000257446" "0" "10" "6" "135732477" "135732477" "del" "0.0109902" "02330" "AHI1_000077" "g.135732477del" "" "" "" "AHI1(NM_001134831.2):c.2961+9delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411339del" "" "benign" "" "0000257447" "0" "10" "6" "135715984" "135715984" "subst" "0.000455855" "02330" "AHI1_000026" "g.135715984C>T" "" "" "" "AHI1(NM_001134831.2):c.3039G>A (p.Q1013=), AHI1(NM_017651.4):c.3039G>A (p.Q1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135394846C>T" "" "benign" "" "0000257448" "0" "10" "6" "135679271" "135679271" "subst" "0.000473195" "02330" "AHI1_000024" "g.135679271G>A" "" "" "" "AHI1(NM_001134831.2):c.3164C>T (p.T1055M), AHI1(NM_001350503.1):c.3164C>T (p.T1055M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135358133G>A" "" "benign" "" "0000257449" "0" "10" "6" "135644371" "135644371" "subst" "0.00366604" "02330" "AHI1_000007" "g.135644371T>C" "" "" "" "AHI1(NM_001134831.2):c.3257A>G (p.E1086G), AHI1(NM_017651.4):c.3257A>G (p.E1086G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135323233T>C" "" "benign" "" "0000257450" "0" "50" "6" "135639654" "135639654" "subst" "0" "02330" "AHI1_000022" "g.135639654T>A" "" "" "" "AHI1(NM_001134831.2):c.3426+3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135318516T>A" "" "VUS" "" "0000257451" "0" "10" "6" "135621627" "135621629" "del" "0" "02330" "AHI1_000019" "g.135621627_135621629del" "" "" "" "AHI1(NM_001134831.2):c.3485+13_3485+15delTTC, AHI1(NM_017651.4):c.3485+13_3485+15delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135300489_135300491del" "" "benign" "" "0000257452" "0" "10" "6" "135787184" "135787184" "subst" "0.00407608" "02330" "AHI1_000063" "g.135787184C>T" "" "" "" "AHI1(NM_001134831.2):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135466046C>T" "" "benign" "" "0000257453" "0" "30" "6" "135786977" "135786977" "subst" "0.000958933" "02330" "AHI1_000061" "g.135786977G>A" "" "" "" "AHI1(NM_001134831.1):c.724C>T (p.P242S), AHI1(NM_001350503.2):c.724C>T (p.P242S), AHI1(NM_017651.4):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135465839G>A" "" "likely benign" "" "0000259001" "0" "10" "6" "135763866" "135763866" "subst" "0.914729" "02325" "AHI1_000047" "g.135763866G>A" "" "" "" "AHI1(NM_001134831.1):c.1780-14C>T, AHI1(NM_001134831.2):c.1780-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135442728G>A" "" "benign" "" "0000259002" "0" "10" "6" "135639644" "135639644" "subst" "0.587768" "02325" "AHI1_000021" "g.135639644C>T" "" "" "" "AHI1(NM_001134831.1):c.3426+13G>A, AHI1(NM_001134831.2):c.3426+13G>A, AHI1(NM_017651.4):c.3426+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135318506C>T" "" "benign" "" "0000259316" "0" "30" "6" "135644371" "135644371" "subst" "0.00366604" "02325" "AHI1_000007" "g.135644371T>C" "" "" "" "AHI1(NM_001134831.2):c.3257A>G (p.E1086G), AHI1(NM_017651.4):c.3257A>G (p.E1086G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135323233T>C" "" "likely benign" "" "0000259442" "0" "30" "6" "135732653" "135732653" "subst" "7.19674E-5" "02325" "AHI1_000079" "g.135732653G>A" "" "" "" "AHI1(NM_001134831.2):c.2794C>T (p.R932C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411515G>A" "" "likely benign" "" "0000260672" "0" "50" "6" "135813405" "135813405" "subst" "0" "02326" "AHI1_000068" "g.135813405G>T" "" "" "" "AHI1(NM_001134831.2):c.-30C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135492267G>T" "" "VUS" "" "0000260673" "0" "10" "6" "135606755" "135606755" "subst" "0.0729667" "02326" "AHI1_000016" "g.135606755C>G" "" "" "" "AHI1(NM_001134831.2):c.*28G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135285617C>G" "" "benign" "" "0000260674" "0" "10" "6" "135754503" "135754503" "subst" "0" "02326" "AHI1_000045" "g.135754503C>T" "" "" "" "AHI1(NM_017651.4):c.2037-109G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433365C>T" "" "benign" "" "0000260675" "0" "70" "6" "135754263" "135754263" "subst" "2.44067E-5" "02326" "AHI1_000044" "g.135754263C>T" "" "" "" "AHI1(NM_017651.4):c.2168G>A (p.R723Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433125C>T" "" "likely pathogenic" "" "0000260676" "0" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "02326" "AHI1_000014" "g.135754257C>T" "" "" "" "AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_001134831.2):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000260677" "0" "10" "6" "135754013" "135754013" "subst" "0" "02326" "AHI1_000040" "g.135754013T>C" "" "" "" "AHI1(NM_017651.4):c.2266+152A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135432875T>C" "" "benign" "" "0000260678" "0" "10" "6" "135748451" "135748451" "subst" "0.0156912" "02326" "AHI1_000035" "g.135748451T>C" "" "" "" "AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135427313T>C" "" "benign" "" "0000260679" "0" "30" "6" "135732649" "135732649" "subst" "0.00398903" "02326" "AHI1_000033" "g.135732649T>C" "" "" "" "AHI1(NM_001134831.1):c.2798A>G (p.Y933C), AHI1(NM_001134831.2):c.2798A>G (p.Y933C), AHI1(NM_017651.4):c.2798A>G (p.Y933C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411511T>C" "" "likely benign" "" "0000260680" "0" "10" "6" "135726105" "135726105" "subst" "0.000959693" "02326" "AHI1_000028" "g.135726105C>T" "" "" "" "AHI1(NM_001134830.1):c.2972G>A (p.(Arg991His)), AHI1(NM_001134831.2):c.2972G>A (p.R991H), AHI1(NM_001350503.2):c.2972G>A (p.R991H), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135404967C>T" "" "benign" "" "0000260681" "0" "10" "6" "135716008" "135716008" "subst" "0.0178384" "02326" "AHI1_000027" "g.135716008T>C" "" "" "" "AHI1(NM_001134831.1):c.3015A>G (p.S1005=), AHI1(NM_017651.4):c.3015A>G (p.S1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135394870T>C" "" "benign" "" "0000260682" "0" "10" "6" "135715970" "135715970" "subst" "0.00405391" "02326" "AHI1_000025" "g.135715970T>G" "" "" "" "AHI1(NM_017651.4):c.3053A>C (p.Q1018P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135394832T>G" "" "benign" "" "0000260683" "0" "70" "6" "135644332" "135644332" "subst" "0" "02326" "AHI1_000023" "g.135644332C>T" "" "" "" "AHI1(NM_017651.4):c.3296G>A (p.G1099D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135323194C>T" "" "likely pathogenic" "" "0000260684" "0" "10" "6" "135639644" "135639644" "subst" "0.587768" "02326" "AHI1_000021" "g.135639644C>T" "" "" "" "AHI1(NM_001134831.1):c.3426+13G>A, AHI1(NM_001134831.2):c.3426+13G>A, AHI1(NM_017651.4):c.3426+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135318506C>T" "" "benign" "" "0000260685" "0" "50" "6" "135611661" "135611661" "subst" "0" "02326" "AHI1_000018" "g.135611661G>A" "" "" "" "AHI1(NM_001134831.2):c.3488C>T (p.S1163F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135290523G>A" "" "VUS" "" "0000260686" "0" "10" "6" "135606994" "135606994" "subst" "0" "02326" "AHI1_000017" "g.135606994C>T" "" "" "" "AHI1(NM_017651.4):c.3589-209G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135285856C>T" "" "benign" "" "0000260687" "0" "10" "6" "135784293" "135784293" "subst" "0" "02326" "AHI1_000059" "g.135784293G>T" "" "" "" "AHI1(NM_017651.4):c.901C>A (p.P301T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135463155G>T" "" "benign" "" "0000262093" "0" "30" "6" "135813435" "135813435" "subst" "0" "01943" "AHI1_000069" "g.135813435G>A" "" "" "" "AHI1(NM_001134831.1):c.-54-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135492297G>A" "" "likely benign" "" "0000262094" "0" "50" "6" "135778638" "135778638" "subst" "0" "01943" "AHI1_000055" "g.135778638T>C" "" "" "" "AHI1(NM_001134831.1):c.1145A>G (p.D382G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135457500T>C" "" "VUS" "" "0000262095" "0" "50" "6" "135769460" "135769460" "subst" "3.66217E-5" "01943" "AHI1_000052" "g.135769460C>T" "" "" "" "AHI1(NM_001134831.1):c.1594G>A (p.V532I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135448322C>T" "" "VUS" "" "0000262096" "0" "30" "6" "135768282" "135768282" "subst" "0.0111283" "01943" "AHI1_000050" "g.135768282C>T" "" "" "" "AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H), AHI1(NM_001134831.2):c.1643G>A (p.R548H), AHI1(NM_001350...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135447144C>T" "" "likely benign" "" "0000262097" "0" "10" "6" "135763866" "135763866" "subst" "0.914729" "01943" "AHI1_000047" "g.135763866G>A" "" "" "" "AHI1(NM_001134831.1):c.1780-14C>T, AHI1(NM_001134831.2):c.1780-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135442728G>A" "" "benign" "" "0000262098" "0" "10" "6" "135763841" "135763841" "subst" "0.000752142" "01943" "AHI1_000046" "g.135763841G>A" "" "" "" "AHI1(NM_001134831.1):c.1791C>T (p.I597=), AHI1(NM_001134831.2):c.1791C>T (p.I597=), AHI1(NM_017651.4):c.1791C>T (p.I597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135442703G>A" "" "benign" "" "0000262099" "0" "50" "6" "135787511" "135787511" "subst" "0" "01943" "AHI1_000066" "g.135787511G>T" "" "" "" "AHI1(NM_001134831.1):c.190C>A (p.P64T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135466373G>T" "" "VUS" "" "0000262100" "0" "50" "6" "135754165" "135754165" "subst" "4.06815E-6" "01943" "AHI1_000042" "g.135754165C>A" "" "" "" "AHI1(NM_001134831.1):c.2266G>T (p.G756C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433027C>A" "" "VUS" "" "0000262101" "0" "30" "6" "135752369" "135752369" "subst" "0" "01943" "AHI1_000039" "g.135752369C>A" "" "" "" "AHI1(NM_001134831.1):c.2350G>T (p.V784L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135431231C>A" "" "likely benign" "" "0000262102" "0" "30" "6" "135749885" "135749885" "subst" "0.00374786" "01943" "AHI1_000080" "g.135749885C>T" "" "" "" "AHI1(NM_001134831.1):c.2505G>A (p.R835=), AHI1(NM_001134831.2):c.2505G>A (p.R835=), AHI1(NM_017651.4):c.2505G>A (p.R835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135428747C>T" "" "likely benign" "" "0000262103" "0" "30" "6" "135748451" "135748451" "subst" "0.0156912" "01943" "AHI1_000035" "g.135748451T>C" "" "" "" "AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135427313T>C" "" "likely benign" "" "0000262104" "0" "30" "6" "135732639" "135732639" "subst" "0.000139772" "01943" "AHI1_000032" "g.135732639T>C" "" "" "" "AHI1(NM_001134831.1):c.2808A>G (p.T936=), AHI1(NM_001134831.2):c.2808A>G (p.T936=), AHI1(NM_017651.4):c.2808A>G (p.T936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135411501T>C" "" "likely benign" "" "0000262105" "0" "30" "6" "135716008" "135716008" "subst" "0.0178384" "01943" "AHI1_000027" "g.135716008T>C" "" "" "" "AHI1(NM_001134831.1):c.3015A>G (p.S1005=), AHI1(NM_017651.4):c.3015A>G (p.S1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135394870T>C" "" "likely benign" "" "0000262106" "0" "10" "6" "135639644" "135639644" "subst" "0.587768" "01943" "AHI1_000021" "g.135639644C>T" "" "" "" "AHI1(NM_001134831.1):c.3426+13G>A, AHI1(NM_001134831.2):c.3426+13G>A, AHI1(NM_017651.4):c.3426+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135318506C>T" "" "benign" "" "0000262107" "0" "50" "6" "135787148" "135787148" "subst" "4.06273E-6" "01943" "AHI1_000062" "g.135787148C>A" "" "" "" "AHI1(NM_001134831.1):c.553G>T (p.D185Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135466010C>A" "" "VUS" "" "0000262108" "0" "10" "6" "135786977" "135786977" "subst" "0.000958933" "01943" "AHI1_000061" "g.135786977G>A" "" "" "" "AHI1(NM_001134831.1):c.724C>T (p.P242S), AHI1(NM_001350503.2):c.724C>T (p.P242S), AHI1(NM_017651.4):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135465839G>A" "" "benign" "" "0000262109" "0" "30" "6" "135784390" "135784390" "subst" "0.00258703" "01943" "AHI1_000060" "g.135784390T>G" "" "" "" "AHI1(NM_001134831.1):c.804A>C (p.S268=), AHI1(NM_017651.4):c.804A>C (p.S268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135463252T>G" "" "likely benign" "" "0000331231" "0" "50" "6" "135748409" "135748409" "subst" "5.76606E-5" "01804" "AHI1_000071" "g.135748409T>C" "" "" "" "AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135427271T>C" "" "VUS" "" "0000331232" "0" "30" "6" "135749886" "135749886" "subst" "0" "01804" "AHI1_000036" "g.135749886C>G" "" "" "" "AHI1(NM_001134830.1):c.2504G>C (p.(Arg835Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135428748C>G" "" "likely benign" "" "0000331233" "0" "50" "6" "135751071" "135751071" "subst" "0" "01804" "AHI1_000037" "g.135751071C>T" "" "" "" "AHI1(NM_001134830.1):c.2441G>A (p.(Arg814His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135429933C>T" "" "VUS" "" "0000331234" "0" "50" "6" "135769508" "135769508" "subst" "0" "01804" "AHI1_000053" "g.135769508C>T" "" "" "" "AHI1(NM_001134830.1):c.1546G>A (p.(Glu516Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135448370C>T" "" "VUS" "" "0000331236" "0" "50" "6" "135778794" "135778794" "subst" "0.000853187" "01804" "AHI1_000004" "g.135778794T>C" "" "" "" "AHI1(NM_001134830.1):c.989A>G (p.(Asp330Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135457656T>C" "" "VUS" "" "0000331238" "0" "30" "6" "135787499" "135787499" "subst" "0" "01804" "AHI1_000065" "g.135787499T>C" "" "" "" "AHI1(NM_001134830.1):c.202A>G (p.(Arg68Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135466361T>C" "" "likely benign" "" "0000337166" "0" "10" "6" "135639644" "135639644" "subst" "0.587768" "02327" "AHI1_000021" "g.135639644C>T" "" "" "" "AHI1(NM_001134831.1):c.3426+13G>A, AHI1(NM_001134831.2):c.3426+13G>A, AHI1(NM_017651.4):c.3426+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135318506C>T" "" "benign" "" "0000337167" "0" "10" "6" "135748451" "135748451" "subst" "0.0156912" "02327" "AHI1_000035" "g.135748451T>C" "" "" "" "AHI1(NM_001134831.1):c.2624-6A>G, AHI1(NM_017651.4):c.2624-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135427313T>C" "" "benign" "" "0000337168" "0" "10" "6" "135763866" "135763866" "subst" "0.914729" "02327" "AHI1_000047" "g.135763866G>A" "" "" "" "AHI1(NM_001134831.1):c.1780-14C>T, AHI1(NM_001134831.2):c.1780-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135442728G>A" "" "benign" "" "0000337171" "0" "10" "6" "135818897" "135818897" "subst" "0.390935" "02327" "AHI1_000074" "g.135818897C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135497759C>A" "" "benign" "" "0000343401" "0" "10" "6" "135751024" "135751024" "subst" "0.0202987" "02327" "AHI1_000006" "g.135751024G>A" "" "" "" "AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_001134831.2):c.2488C>T (p.R830W), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135429886G>A" "" "benign" "" "0000344186" "0" "70" "6" "135754173" "135754173" "subst" "0" "02327" "AHI1_000015" "g.135754173T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433035T>A" "" "likely pathogenic" "" "0000347666" "0" "50" "6" "135748409" "135748409" "subst" "5.76606E-5" "02327" "AHI1_000071" "g.135748409T>C" "" "" "" "AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135427271T>C" "" "VUS" "" "0000349847" "0" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "02327" "AHI1_000014" "g.135754257C>T" "" "" "" "AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_001134831.2):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000358164" "21" "90" "6" "135715991" "135715991" "subst" "6.43644E-5" "01243" "AHI1_000075" "g.135715991G>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.135394853G>C" "" "pathogenic" "" "0000358411" "11" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "01243" "AHI1_000081" "g.135754219G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.135433081G>A" "" "pathogenic" "" "0000487542" "3" "70" "6" "135759520" "135759520" "subst" "0" "03335" "AHI1_000083" "g.135759520T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.135438382T>G" "" "likely pathogenic (recessive)" "" "0000527249" "0" "50" "6" "135611565" "135611565" "subst" "0" "02330" "AHI1_000084" "g.135611565A>G" "" "" "" "AHI1(NM_001134831.2):c.3584T>C (p.I1195T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135290427A>G" "" "VUS" "" "0000527250" "0" "30" "6" "135639715" "135639715" "subst" "0.00522715" "02330" "AHI1_000085" "g.135639715G>A" "" "" "" "AHI1(NM_001134830.1):c.3368C>T (p.(Ser1123Phe)), AHI1(NM_001134831.1):c.3368C>T (p.S1123F), AHI1(NM_001134831.2):c.3368C>T (p.S1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135318577G>A" "" "likely benign" "" "0000527251" "0" "50" "6" "135639715" "135639715" "subst" "0.00522715" "01943" "AHI1_000085" "g.135639715G>A" "" "" "" "AHI1(NM_001134830.1):c.3368C>T (p.(Ser1123Phe)), AHI1(NM_001134831.1):c.3368C>T (p.S1123F), AHI1(NM_001134831.2):c.3368C>T (p.S1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135318577G>A" "" "VUS" "" "0000527252" "0" "30" "6" "135639715" "135639715" "subst" "0.00522715" "01804" "AHI1_000085" "g.135639715G>A" "" "" "" "AHI1(NM_001134830.1):c.3368C>T (p.(Ser1123Phe)), AHI1(NM_001134831.1):c.3368C>T (p.S1123F), AHI1(NM_001134831.2):c.3368C>T (p.S1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135318577G>A" "" "likely benign" "" "0000527253" "0" "30" "6" "135639715" "135639715" "subst" "0.00522715" "02325" "AHI1_000085" "g.135639715G>A" "" "" "" "AHI1(NM_001134830.1):c.3368C>T (p.(Ser1123Phe)), AHI1(NM_001134831.1):c.3368C>T (p.S1123F), AHI1(NM_001134831.2):c.3368C>T (p.S1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135318577G>A" "" "likely benign" "" "0000527254" "0" "30" "6" "135639715" "135639715" "subst" "0.00522715" "02326" "AHI1_000085" "g.135639715G>A" "" "" "" "AHI1(NM_001134830.1):c.3368C>T (p.(Ser1123Phe)), AHI1(NM_001134831.1):c.3368C>T (p.S1123F), AHI1(NM_001134831.2):c.3368C>T (p.S1123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135318577G>A" "" "likely benign" "" "0000527255" "0" "30" "6" "135639731" "135639731" "subst" "0" "01943" "AHI1_000086" "g.135639731C>T" "" "" "" "AHI1(NM_001134831.1):c.3352G>A (p.E1118K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135318593C>T" "" "likely benign" "" "0000527256" "0" "50" "6" "135644408" "135644408" "subst" "1.22084E-5" "01804" "AHI1_000087" "g.135644408G>A" "" "" "" "AHI1(NM_001134830.1):c.3220C>T (p.(Arg1074Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135323270G>A" "" "VUS" "" "0000527258" "0" "90" "6" "135715991" "135715991" "subst" "6.43644E-5" "01943" "AHI1_000075" "g.135715991G>C" "" "" "" "AHI1(NM_001134831.1):c.3032C>G (p.S1011*), AHI1(NM_001134831.2):c.3032C>G (p.S1011*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135394853G>C" "" "pathogenic" "" "0000527259" "0" "30" "6" "135726105" "135726105" "subst" "0.000959693" "01804" "AHI1_000028" "g.135726105C>T" "" "" "" "AHI1(NM_001134830.1):c.2972G>A (p.(Arg991His)), AHI1(NM_001134831.2):c.2972G>A (p.R991H), AHI1(NM_001350503.2):c.2972G>A (p.R991H), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135404967C>T" "" "likely benign" "" "0000527260" "0" "10" "6" "135732464" "135732465" "ins" "0.0107696" "02330" "AHI1_000088" "g.135732464_135732465insTTTAA" "" "" "" "AHI1(NM_001134831.2):c.2961+22_2961+23insTAAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135411326_135411327insTTTAA" "" "benign" "" "0000527262" "0" "10" "6" "135732479" "135732480" "ins" "0.0110178" "02330" "AHI1_000090" "g.135732479_135732480insGTC" "" "" "" "AHI1(NM_001134831.2):c.2961+6_2961+7insGAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135411341_135411342insGTC" "" "benign" "" "0000527265" "0" "50" "6" "135748409" "135748409" "subst" "5.76606E-5" "01943" "AHI1_000071" "g.135748409T>C" "" "" "" "AHI1(NM_001134830.1):c.2660A>G (p.(Lys887Arg)), AHI1(NM_001134831.1):c.2660A>G (p.K887R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135427271T>C" "" "VUS" "" "0000527266" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "01943" "AHI1_000006" "g.135751024G>A" "" "" "" "AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_001134831.2):c.2488C>T (p.R830W), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135429886G>A" "" "VUS" "" "0000527267" "0" "30" "6" "135751024" "135751024" "subst" "0.0202987" "01804" "AHI1_000006" "g.135751024G>A" "" "" "" "AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_001134831.2):c.2488C>T (p.R830W), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135429886G>A" "" "likely benign" "" "0000527268" "0" "10" "6" "135751024" "135751024" "subst" "0.0202987" "02325" "AHI1_000006" "g.135751024G>A" "" "" "" "AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_001134831.2):c.2488C>T (p.R830W), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135429886G>A" "" "benign" "" "0000527269" "0" "30" "6" "135752425" "135752425" "subst" "0.000117334" "02330" "AHI1_000092" "g.135752425G>A" "" "" "" "AHI1(NM_001134831.2):c.2294C>T (p.T765I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135431287G>A" "" "likely benign" "" "0000527270" "0" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "01943" "AHI1_000014" "g.135754257C>T" "" "" "" "AHI1(NM_001134831.1):c.2174G>A (p.W725*), AHI1(NM_001134831.2):c.2174G>A (p.W725*), AHI1(NM_017651.4):c.2174G>A (p.W725*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135433119C>T" "" "pathogenic" "" "0000527271" "0" "10" "6" "135759417" "135759417" "subst" "0" "02326" "AHI1_000093" "g.135759417C>T" "" "" "" "AHI1(NM_017651.4):c.2036+96G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135438279C>T" "" "benign" "" "0000527272" "0" "50" "6" "135763803" "135763803" "subst" "0.000268362" "02325" "AHI1_000094" "g.135763803C>T" "" "" "" "AHI1(NM_001350503.1):c.1829G>A (p.R610Q), AHI1(NM_001350503.2):c.1829G>A (p.R610Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135442665C>T" "" "VUS" "" "0000527273" "0" "50" "6" "135763833" "135763833" "subst" "0" "01943" "AHI1_000095" "g.135763833T>C" "" "" "" "AHI1(NM_001134831.1):c.1799A>G (p.K600R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135442695T>C" "" "VUS" "" "0000527274" "0" "30" "6" "135763844" "135763844" "subst" "6.32074E-5" "01943" "AHI1_000096" "g.135763844A>G" "" "" "" "AHI1(NM_001350503.1):c.1788T>C (p.R596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135442706A>G" "" "likely benign" "" "0000527275" "0" "30" "6" "135768200" "135768200" "subst" "8.1324E-6" "01943" "AHI1_000097" "g.135768200T>C" "" "" "" "AHI1(NM_001134831.1):c.1725A>G (p.E575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135447062T>C" "" "likely benign" "" "0000527276" "0" "30" "6" "135768282" "135768282" "subst" "0.0111283" "01804" "AHI1_000050" "g.135768282C>T" "" "" "" "AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H), AHI1(NM_001134831.2):c.1643G>A (p.R548H), AHI1(NM_001350...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135447144C>T" "" "likely benign" "" "0000527277" "0" "10" "6" "135768307" "135768307" "subst" "0" "02330" "AHI1_000098" "g.135768307G>C" "" "" "" "AHI1(NM_001134831.2):c.1627-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135447169G>C" "" "benign" "" "0000527278" "0" "10" "6" "135776818" "135776855" "del" "0" "02330" "AHI1_000099" "g.135776818_135776855del" "" "" "" "AHI1(NM_001134831.2):c.1344+17_1344+54del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135455680_135455717del" "" "benign" "" "0000527279" "0" "30" "6" "135776912" "135776912" "subst" "0.000503512" "01804" "AHI1_000100" "g.135776912C>T" "" "" "" "AHI1(NM_001134830.1):c.1304G>A (p.(Arg435Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135455774C>T" "" "likely benign" "" "0000527280" "0" "50" "6" "135778690" "135778690" "subst" "0" "02325" "AHI1_000101" "g.135778690T>G" "" "" "" "AHI1(NM_001350503.2):c.1093A>C (p.M365L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135457552T>G" "" "VUS" "" "0000527281" "0" "30" "6" "135778797" "135778797" "subst" "0.000219396" "01943" "AHI1_000102" "g.135778797C>A" "" "" "" "AHI1(NM_001134831.1):c.986G>T (p.R329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135457659C>A" "" "likely benign" "" "0000527282" "0" "10" "6" "135778872" "135778872" "dup" "0" "02330" "AHI1_000103" "g.135778872dup" "" "" "" "AHI1(NM_001134831.2):c.932-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135457734dup" "" "benign" "" "0000527283" "0" "50" "6" "135784326" "135784326" "subst" "1.63696E-5" "01943" "AHI1_000104" "g.135784326C>T" "" "" "" "AHI1(NM_001134831.1):c.868G>A (p.E290K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135463188C>T" "" "VUS" "" "0000527285" "0" "10" "6" "135787184" "135787184" "subst" "0.00407608" "02326" "AHI1_000063" "g.135787184C>T" "" "" "" "AHI1(NM_001134831.2):c.517G>A (p.A173T), AHI1(NM_017651.4):c.517G>A (p.A173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135466046C>T" "" "benign" "" "0000527286" "0" "10" "6" "135787503" "135787503" "subst" "0" "02330" "AHI1_000106" "g.135787503A>G" "" "" "" "AHI1(NM_001134831.2):c.198T>C (p.T66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135466365A>G" "" "benign" "" "0000527287" "0" "90" "6" "135811805" "135811805" "dup" "0" "02330" "AHI1_000107" "g.135811805dup" "" "" "" "AHI1(NM_001134831.2):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.5):c.96dupA (p.L33Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135490667dup" "" "pathogenic" "" "0000527288" "0" "10" "6" "135811824" "135811824" "subst" "0.000321258" "02330" "AHI1_000108" "g.135811824A>G" "" "" "" "AHI1(NM_001134831.2):c.72T>C (p.S24=), AHI1(NM_001350503.1):c.72T>C (p.S24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135490686A>G" "" "benign" "" "0000604349" "3" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "03508" "AHI1_000014" "g.135754257C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.135433119C>T" "" "pathogenic (recessive)" "" "0000610036" "0" "30" "6" "135606770" "135606770" "subst" "0.000124831" "02330" "AHI1_000109" "g.135606770T>C" "" "" "" "AHI1(NM_001350504.2):c.3501A>G (p.K1167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135285632T>C" "" "likely benign" "" "0000610037" "0" "30" "6" "135621707" "135621709" "del" "0" "02330" "AHI1_000110" "g.135621707_135621709del" "" "" "" "AHI1(NM_001134831.2):c.3427-8_3427-6delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135300569_135300571del" "" "likely benign" "" "0000610038" "0" "30" "6" "135726105" "135726105" "subst" "0.000959693" "02330" "AHI1_000028" "g.135726105C>T" "" "" "" "AHI1(NM_001134830.1):c.2972G>A (p.(Arg991His)), AHI1(NM_001134831.2):c.2972G>A (p.R991H), AHI1(NM_001350503.2):c.2972G>A (p.R991H), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135404967C>T" "" "likely benign" "" "0000610039" "0" "30" "6" "135752328" "135752328" "subst" "0.000353129" "02330" "AHI1_000112" "g.135752328T>C" "" "" "" "AHI1(NM_001350503.2):c.2373+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135431190T>C" "" "likely benign" "" "0000610040" "0" "50" "6" "135768231" "135768231" "subst" "7.32631E-5" "02330" "AHI1_000113" "g.135768231C>T" "" "" "" "AHI1(NM_001134831.2):c.1694G>A (p.R565H), AHI1(NM_001350503.1):c.1694G>A (p.R565H), AHI1(NM_017651.4):c.1694G>A (p.R565H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135447093C>T" "" "VUS" "" "0000610041" "0" "10" "6" "135777077" "135777077" "dup" "0" "02330" "AHI1_000114" "g.135777077dup" "" "" "" "AHI1(NM_001134831.2):c.1152-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135455939dup" "" "benign" "" "0000610042" "0" "30" "6" "135778793" "135778793" "subst" "0.000146251" "02330" "AHI1_000057" "g.135778793A>G" "" "" "" "AHI1(NM_001134831.1):c.990T>C (p.D330=), AHI1(NM_001134831.2):c.990T>C (p.D330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135457655A>G" "" "likely benign" "" "0000610043" "0" "30" "6" "135788707" "135788707" "subst" "0.000309613" "02330" "AHI1_000116" "g.135788707A>G" "" "" "" "AHI1(NM_001134831.2):c.189+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135467569A>G" "" "likely benign" "" "0000610044" "0" "30" "6" "135811788" "135811788" "subst" "1.21943E-5" "02330" "AHI1_000117" "g.135811788T>C" "" "" "" "AHI1(NM_001350503.2):c.108A>G (p.K36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135490650T>C" "" "likely benign" "" "0000621639" "0" "30" "6" "135715990" "135715990" "subst" "7.29726E-5" "01943" "AHI1_000111" "g.135715990T>C" "" "" "" "AHI1(NM_001350503.1):c.3033A>G (p.S1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135394852T>C" "" "likely benign" "" "0000621640" "0" "30" "6" "135786993" "135786993" "subst" "2.39705E-5" "02330" "AHI1_000115" "g.135786993T>C" "" "" "" "AHI1(NM_001134831.2):c.708A>G (p.K236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135465855T>C" "" "likely benign" "" "0000624891" "3" "90" "6" "135778732" "135778732" "subst" "0" "01807" "AHI1_000118" "g.135778732G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.135457594G>A" "" "pathogenic" "" "0000651842" "1" "30" "6" "135716008" "135716008" "subst" "0.0178384" "03575" "AHI1_000027" "g.135716008T>C" "41/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous, no homozygous; {DB:CLININrs41287054}" "Germline" "" "rs41287054" "0" "" "" "g.135394870T>C" "" "likely benign" "" "0000651843" "1" "50" "6" "135732649" "135732649" "subst" "0.00398903" "03575" "AHI1_000033" "g.135732649T>C" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs41288013}" "Germline" "" "rs41288013" "0" "" "" "g.135411511T>C" "" "VUS" "" "0000651844" "1" "30" "6" "135751024" "135751024" "subst" "0.0202987" "03575" "AHI1_000006" "g.135751024G>A" "45/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "45 heterozygous, no homozygous; {DB:CLININrs13312995}" "Germline" "" "rs13312995" "0" "" "" "g.135429886G>A" "" "likely benign" "" "0000651845" "1" "10" "6" "135768282" "135768282" "subst" "0.0111283" "03575" "AHI1_000050" "g.135768282C>T" "30/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs35433555}" "Germline" "" "rs35433555" "0" "" "" "g.135447144C>T" "" "benign" "" "0000651846" "1" "90" "6" "135778731" "135778731" "subst" "0" "03575" "AHI1_000119" "g.135778731C>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs397514726}" "Germline" "" "rs397514726" "0" "" "" "g.135457593C>A" "" "pathogenic" "" "0000655486" "0" "10" "6" "135751024" "135751024" "subst" "0.0202987" "02326" "AHI1_000006" "g.135751024G>A" "" "" "" "AHI1(NM_001134830.1):c.2488C>T (p.(Arg830Trp)), AHI1(NM_001134831.1):c.2488C>T (p.R830W), AHI1(NM_001134831.2):c.2488C>T (p.R830W), AHI1(NM_017651...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135429886G>A" "" "benign" "" "0000655487" "0" "30" "6" "135787520" "135787520" "subst" "1.22953E-5" "01943" "AHI1_000120" "g.135787520A>G" "" "" "" "AHI1(NM_001350503.1):c.190-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135466382A>G" "" "likely benign" "" "0000663581" "1" "50" "6" "135732465" "135732479" "delins" "0" "00006" "AHI1_000001" "g.135732465_135732479delinsTTTAAAACTTTAAAAAAGTC" "" "{PMID:Arno 2017:28132693}" "" "" "heterozygous variant only" "Germline" "" "" "0" "" "" "g.135411327_135411341delinsTTTAAAACTTTAAAAAAGTC" "" "VUS" "" "0000677629" "0" "50" "6" "135621632" "135621632" "subst" "0" "01804" "AHI1_000121" "g.135621632G>A" "" "" "" "AHI1(NM_001134830.1):c.3485+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677630" "0" "50" "6" "135709171" "135709174" "del" "0" "02330" "AHI1_000122" "g.135709171_135709174del" "" "" "" "AHI1(NM_001134832.2):c.3110_3113delACAG (p.D1037Vfs*41)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677631" "0" "30" "6" "135768231" "135768231" "subst" "7.32631E-5" "01943" "AHI1_000113" "g.135768231C>T" "" "" "" "AHI1(NM_001134831.2):c.1694G>A (p.R565H), AHI1(NM_001350503.1):c.1694G>A (p.R565H), AHI1(NM_017651.4):c.1694G>A (p.R565H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677632" "0" "90" "6" "135811805" "135811805" "dup" "0" "02325" "AHI1_000107" "g.135811805dup" "" "" "" "AHI1(NM_001134831.2):c.96dupA (p.L33Tfs*9), AHI1(NM_017651.5):c.96dupA (p.L33Tfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000684760" "0" "30" "6" "135787048" "135787048" "subst" "0.000479329" "00004" "AHI1_000123" "g.135787048T>C" "frequency 0.020" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.135465910T>C" "" "likely benign" "" "0000684994" "0" "90" "6" "135715991" "135715991" "subst" "6.43644E-5" "00004" "AHI1_000075" "g.135715991G>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000684995" "0" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00004" "AHI1_000081" "g.135754219G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000687716" "11" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "03787" "AHI1_000014" "g.135754257C>T" "" "" "" "" "A partial AHI1 gene deletion inherited from mother was confirmed by qPCR analysis." "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000689628" "0" "30" "6" "135715993" "135715993" "subst" "0" "01943" "AHI1_000124" "g.135715993G>A" "" "" "" "AHI1(NM_001350503.1):c.3030C>T (p.S1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708900" "0" "70" "6" "135644361" "135644361" "subst" "0" "03957" "AHI1_000125" "g.135644361C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000708901" "0" "70" "6" "135759570" "135759570" "subst" "0" "03957" "AHI1_000126" "g.135759570A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000710218" "1" "90" "6" "135769470" "135769470" "del" "0" "00006" "AHI1_000127" "g.135769470del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "1585delA" "" "Germline" "" "" "0" "" "" "g.135448332del" "" "pathogenic" "" "0000710296" "3" "70" "6" "135759520" "135759520" "subst" "0" "00006" "AHI1_000083" "g.135759520T>G" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM1, PM2, PP1, PP3, PP4" "Germline" "" "" "0" "" "" "g.135438382T>G" "" "likely pathogenic" "ACMG" "0000713287" "0" "90" "6" "135751083" "135751083" "subst" "0" "00000" "AHI1_000130" "g.135751083G>A" "" "{PMID:Carss 2017:28041643}" "" "6:135751083G>A ENST00000367800.4:c.2429C>T (Pro810Leu)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713345" "0" "90" "6" "135726089" "135726089" "del" "0.000603781" "00000" "AHI1_000128" "g.135726089del" "" "{PMID:Carss 2017:28041643}" "" "6:135726088CT>C ENST00000367800.4:c.2988delA (Val997SerfsTer20)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713698" "0" "90" "6" "135754344" "135754344" "subst" "0" "00000" "AHI1_000131" "g.135754344T>C" "" "{PMID:Carss 2017:28041643}" "" "6:135754344T>C ENST00000367800.4:c.2087A>G (His696Arg)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713727" "0" "90" "6" "135749821" "135749822" "ins" "0" "00000" "AHI1_000129" "g.135749821_135749822insCT" "" "{PMID:Carss 2017:28041643}" "" "6:135749820A>ACT ENST00000367800.4:c.2569_2570insAG (Phe857Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000720680" "0" "50" "6" "135611646" "135611646" "subst" "0.00090721" "01943" "AHI1_000132" "g.135611646T>C" "" "" "" "AHI1(NM_001350503.1):c.3503A>G (p.E1168G), AHI1(NM_017651.4):c.3503A>G (p.E1168G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720681" "0" "30" "6" "135679271" "135679271" "subst" "0.000473195" "01943" "AHI1_000024" "g.135679271G>A" "" "" "" "AHI1(NM_001134831.2):c.3164C>T (p.T1055M), AHI1(NM_001350503.1):c.3164C>T (p.T1055M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720682" "0" "70" "6" "135715991" "135715991" "subst" "6.43644E-5" "02329" "AHI1_000075" "g.135715991G>C" "" "" "" "AHI1(NM_001134831.1):c.3032C>G (p.S1011*), AHI1(NM_001134831.2):c.3032C>G (p.S1011*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720683" "0" "50" "6" "135751079" "135751079" "subst" "4.48857E-6" "01943" "AHI1_000133" "g.135751079A>C" "" "" "" "AHI1(NM_001350503.1):c.2433T>G (p.N811K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720684" "0" "50" "6" "135763726" "135763726" "subst" "0" "01943" "AHI1_000134" "g.135763726T>C" "" "" "" "AHI1(NM_001350503.1):c.1906A>G (p.I636V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720685" "0" "50" "6" "135763803" "135763803" "subst" "0.000268362" "01943" "AHI1_000094" "g.135763803C>T" "" "" "" "AHI1(NM_001350503.1):c.1829G>A (p.R610Q), AHI1(NM_001350503.2):c.1829G>A (p.R610Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720686" "0" "70" "6" "135769570" "135769570" "subst" "0" "02327" "AHI1_000135" "g.135769570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000720687" "0" "70" "6" "135788774" "135788774" "subst" "0.000129416" "01943" "AHI1_000136" "g.135788774T>C" "" "" "" "AHI1(NM_001350503.1):c.136-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000731044" "0" "50" "6" "135787048" "135787048" "subst" "0.000479329" "00000" "AHI1_000123" "g.135787048T>C" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs183936286" "0" "" "" "g.135465910T>C" "" "VUS" "" "0000731045" "0" "50" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs148000791" "0" "" "" "g.135323233T>C" "" "VUS" "" "0000731163" "1" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731182" "2" "90" "6" "135777012" "135777012" "del" "0" "00000" "AHI1_000137" "g.135777012del" "" "{PMID:Porto 2017:29186038}" "" "1205delC" "" "Germline" "" "" "0" "" "" "g.135455874del" "" "pathogenic (recessive)" "" "0000732664" "1" "70" "6" "135763715" "135763715" "subst" "0" "00000" "AHI1_000139" "g.135763715C>A" "" "{PMID:Soens 2017:28714225}" "" "NM_001134830.1:c.1912+5G>T" "r.(del-exon) effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.135442577C>A" "" "likely pathogenic" "" "0000732696" "2" "70" "6" "135749790" "135749790" "subst" "0" "00000" "AHI1_000138" "g.135749790A>T" "" "{PMID:Soens 2017:28714225}" "" "NM_001134830.1:c.2600T>A" "" "Germline" "yes" "" "0" "" "" "g.135428652A>T" "" "likely pathogenic" "" "0000735586" "1" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "00000" "AHI1_000014" "g.135754257C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_017651.4:2174G>A (Trp725*)" "" "Germline" "" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000735713" "2" "90" "6" "135754173" "135754173" "subst" "0" "00000" "AHI1_000015" "g.135754173T>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_017651.4:2258A>T (Asp753Val)" "" "Germline" "" "" "0" "" "" "g.135433035T>A" "" "pathogenic" "" "0000759764" "11" "90" "6" "135754326" "135754326" "subst" "2.03515E-5" "00000" "AHI1_000141" "g.135754326G>A" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.135433188G>A" "" "pathogenic" "" "0000759767" "11" "90" "6" "135763798" "135763798" "subst" "0" "00000" "AHI1_000142" "g.135763798A>G" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.135442660A>G" "" "pathogenic" "" "0000759788" "21" "90" "6" "135784353" "135784353" "subst" "0" "00000" "AHI1_000143" "g.135784353C>A" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.135463215C>A" "" "pathogenic" "" "0000759790" "21" "90" "6" "135752441" "135752441" "subst" "0" "00000" "AHI1_000140" "g.135752441A>C" "" "{PMID:Suzuki 2016:27434533}" "" "" "" "Germline" "" "" "0" "" "" "g.135431303A>C" "" "pathogenic" "" "0000763177" "3" "70" "6" "135776888" "135776888" "subst" "0" "00006" "AHI1_000002" "g.135776888A>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS4, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.135455750A>T" "" "likely pathogenic" "ACMG" "0000765487" "1" "70" "6" "135769571" "135769571" "subst" "1.23401E-5" "00000" "AHI1_000145" "g.135769571G>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.135448433G>A" "" "likely pathogenic" "" "0000765494" "0" "50" "6" "135769474" "135769474" "subst" "1.21987E-5" "00000" "AHI1_000144" "g.135769474G>A" "1/624 control chromosomes" "{PMID:Sun 2015:26747767}" "" "" "" "Germline" "" "" "0" "" "" "g.135448336G>A" "" "VUS" "" "0000765502" "2" "50" "6" "135769474" "135769474" "subst" "1.21987E-5" "00000" "AHI1_000144" "g.135769474G>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "" "Germline" "" "" "0" "" "" "g.135448336G>A" "" "VUS" "" "0000783316" "3" "90" "6" "135759512" "135759512" "subst" "0" "00000" "AHI1_000156" "g.135759512C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2036+1G>T" "" "Germline" "" "" "0" "" "" "g.135438374C>A" "" "pathogenic" "" "0000783317" "3" "90" "6" "135759512" "135759512" "subst" "0" "00000" "AHI1_000156" "g.135759512C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2036+1G>T" "" "Germline" "" "" "0" "" "" "g.135438374C>A" "" "pathogenic" "" "0000783318" "3" "90" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1267C>T" "" "Germline" "" "" "0" "" "" "g.135455811G>A" "" "pathogenic" "" "0000783319" "1" "90" "6" "135749895" "135749895" "subst" "0" "00000" "AHI1_000148" "g.135749895A>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2495T>G" "" "Germline" "" "" "0" "" "" "g.135428757A>C" "" "pathogenic" "" "0000783320" "1" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2212C>T" "" "Germline" "" "" "0" "" "" "g.135433081G>A" "" "pathogenic" "" "0000783321" "1" "90" "6" "135763734" "135763735" "dup" "0" "00000" "AHI1_000162" "g.135763734_135763735dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1897_1898dupGG" "" "Germline" "" "" "0" "" "" "g.135442596_135442597dup" "" "pathogenic" "" "0000783322" "1" "90" "6" "135777066" "135777066" "subst" "0" "00000" "AHI1_000169" "g.135777066T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1152-2a>g" "" "Germline" "" "" "0" "" "" "g.135455928T>C" "" "pathogenic" "" "0000783323" "1" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2212C>T" "" "Germline" "" "" "0" "" "" "g.135433081G>A" "" "pathogenic" "" "0000783324" "3" "90" "6" "135759537" "135759537" "subst" "0" "00000" "AHI1_000158" "g.135759537G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2012C>T" "" "Germline" "" "" "0" "" "" "g.135438399G>A" "" "pathogenic" "" "0000783325" "1" "90" "6" "135778668" "135778668" "subst" "0" "00000" "AHI1_000170" "g.135778668T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1115A>G" "" "Germline" "" "" "0" "" "" "g.135457530T>C" "" "pathogenic" "" "0000783326" "3" "90" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1267C>T" "" "Germline" "" "" "0" "" "" "g.135455811G>A" "" "pathogenic" "" "0000783327" "3" "90" "6" "135754275" "135754275" "subst" "0" "00000" "AHI1_000154" "g.135754275T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2156A>G" "" "Germline" "" "" "0" "" "" "g.135433137T>C" "" "pathogenic" "" "0000783328" "3" "90" "6" "135754275" "135754275" "subst" "0" "00000" "AHI1_000154" "g.135754275T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2156A>G" "" "Germline" "" "" "0" "" "" "g.135433137T>C" "" "pathogenic" "" "0000783329" "3" "90" "6" "135754263" "135754263" "subst" "2.44067E-5" "00000" "AHI1_000044" "g.135754263C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2168G>A" "" "Germline" "" "" "0" "" "" "g.135433125C>T" "" "pathogenic" "" "0000783330" "3" "90" "6" "135759632" "135759632" "subst" "0" "00000" "AHI1_000161" "g.135759632A>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1917T>A" "" "Germline" "" "" "0" "" "" "g.135438494A>T" "" "pathogenic" "" "0000783331" "3" "90" "6" "135748382" "135748382" "subst" "0" "00000" "AHI1_000147" "g.135748382T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2687A>G" "" "Germline" "" "" "0" "" "" "g.135427244T>C" "" "pathogenic" "" "0000783332" "3" "90" "6" "135748382" "135748382" "subst" "0" "00000" "AHI1_000147" "g.135748382T>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2687A>G" "" "Germline" "" "" "0" "" "" "g.135427244T>C" "" "pathogenic" "" "0000783333" "1" "90" "6" "135754333" "135754334" "dup" "0" "00000" "AHI1_000155" "g.135754333_135754334dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2098_2099dupTG" "" "Germline" "" "" "0" "" "" "g.135433195_135433196dup" "" "pathogenic" "" "0000783334" "1" "90" "6" "135769538" "135769538" "subst" "1.62688E-5" "00000" "AHI1_000166" "g.135769538G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1516C>T" "" "Germline" "" "" "0" "" "" "g.135448400G>A" "" "pathogenic" "" "0000783335" "1" "90" "6" "135769427" "135769427" "subst" "1.23769E-5" "00000" "AHI1_000164" "g.135769427C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1626+1G>A" "" "Germline" "" "" "0" "" "" "g.135448289C>T" "" "pathogenic" "" "0000783336" "3" "90" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.910dupA" "" "Germline" "" "" "0" "" "" "g.135463153dup" "" "pathogenic" "" "0000783337" "3" "90" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.910dupA" "" "Germline" "" "" "0" "" "" "g.135463153dup" "" "pathogenic" "" "0000783338" "3" "90" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.910dupA" "" "Germline" "" "" "0" "" "" "g.135463153dup" "" "pathogenic" "" "0000783339" "3" "90" "6" "135754259" "135754259" "del" "4.06765E-6" "00000" "AHI1_000153" "g.135754259del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2172delA" "" "Germline" "" "" "0" "" "" "g.135433121del" "" "pathogenic" "" "0000783340" "3" "90" "6" "135778731" "135778731" "subst" "0" "00000" "AHI1_000119" "g.135778731C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1052G>T" "" "Germline" "" "" "0" "" "" "g.135457593C>A" "" "pathogenic" "" "0000783341" "1" "90" "6" "135787039" "135787039" "subst" "4.33772E-6" "00000" "AHI1_000172" "g.135787039G>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.662C>G" "" "Germline" "" "" "0" "" "" "g.135465901G>C" "" "pathogenic" "" "0000783342" "1" "90" "6" "135787039" "135787039" "subst" "4.33772E-6" "00000" "AHI1_000172" "g.135787039G>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.662C>G" "" "Germline" "" "" "0" "" "" "g.135465901G>C" "" "pathogenic" "" "0000783343" "3" "90" "6" "135754259" "135754259" "del" "4.06765E-6" "00000" "AHI1_000153" "g.135754259del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2172delA" "" "Germline" "" "" "0" "" "" "g.135433121del" "" "pathogenic" "" "0000783344" "3" "90" "6" "135754259" "135754259" "del" "4.06765E-6" "00000" "AHI1_000153" "g.135754259del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2172delA" "" "Germline" "" "" "0" "" "" "g.135433121del" "" "pathogenic" "" "0000783345" "1" "90" "6" "135752422" "135752422" "subst" "0" "00000" "AHI1_000150" "g.135752422C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2297G>A" "" "Germline" "" "" "0" "" "" "g.135431284C>T" "" "pathogenic" "" "0000783346" "3" "90" "6" "135754239" "135754248" "del" "0" "00000" "AHI1_000151" "g.135754239_135754248del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2187_2196delGAGAGAAGAT" "" "Germline" "" "" "0" "" "" "g.135433101_135433110del" "" "pathogenic" "" "0000783347" "1" "90" "6" "135769442" "135769442" "del" "0" "00000" "AHI1_000165" "g.135769442del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1614delA" "" "Germline" "" "" "0" "" "" "g.135448304del" "" "pathogenic" "" "0000783348" "1" "90" "6" "135769442" "135769442" "del" "0" "00000" "AHI1_000165" "g.135769442del" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1614delA" "" "Germline" "" "" "0" "" "" "g.135448304del" "" "pathogenic" "" "0000783349" "3" "90" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.910dupA" "" "Germline" "" "" "0" "" "" "g.135463153dup" "" "pathogenic" "" "0000783580" "3" "70" "6" "135769423" "135769424" "ins" "0" "00000" "AHI1_000163" "g.135769423_135769424insGTAA" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1626+4_1626+5insTTAC" "" "Germline" "" "" "0" "" "" "g.135448285_135448286insGTAA" "" "likely pathogenic" "" "0000783598" "2" "90" "6" "135786965" "135786965" "subst" "6.32903E-6" "00000" "AHI1_000105" "g.135786965T>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.736A>T" "" "Germline" "" "" "0" "" "" "g.135465827T>A" "" "pathogenic" "" "0000783599" "2" "90" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1267C>T" "" "Germline" "" "" "0" "" "" "g.135455811G>A" "" "pathogenic" "" "0000783600" "2" "90" "6" "135787039" "135787039" "subst" "4.33772E-6" "00000" "AHI1_000172" "g.135787039G>C" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.662C>G" "" "Germline" "" "" "0" "" "" "g.135465901G>C" "" "pathogenic" "" "0000783601" "2" "90" "6" "135776956" "135776956" "subst" "1.31712E-5" "00000" "AHI1_000168" "g.135776956C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1260G>A" "" "Germline" "" "" "0" "" "" "g.135455818C>T" "" "pathogenic" "" "0000783602" "2" "90" "6" "135759573" "135759573" "subst" "0" "00000" "AHI1_000160" "g.135759573T>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1976A>T" "" "Germline" "" "" "0" "" "" "g.135438435T>A" "" "pathogenic" "" "0000783603" "2" "90" "6" "135754258" "135754258" "subst" "0" "00000" "AHI1_000152" "g.135754258A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2173T>C" "" "Germline" "" "" "0" "" "" "g.135433120A>G" "" "pathogenic" "" "0000783604" "2" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "00000" "AHI1_000014" "g.135754257C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2174G>A" "" "Germline" "" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000783605" "2" "90" "6" "135759526" "135759526" "subst" "0" "00000" "AHI1_000157" "g.135759526C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2023G>A" "" "Germline" "" "" "0" "" "" "g.135438388C>T" "" "pathogenic" "" "0000783606" "2" "90" "6" "135752358" "135752358" "subst" "0" "00000" "AHI1_000149" "g.135752358C>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2361G>T" "" "Germline" "" "" "0" "" "" "g.135431220C>A" "" "pathogenic" "" "0000783607" "2" "90" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "del ex19" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000783608" "2" "90" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "del ex19" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000783609" "2" "90" "6" "135759552" "135759552" "subst" "1.0577E-5" "00000" "AHI1_000159" "g.135759552T>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.1997A>T" "" "Germline" "" "" "0" "" "" "g.135438414T>A" "" "pathogenic" "" "0000783610" "2" "90" "6" "135748364" "135748364" "subst" "4.10634E-6" "00000" "AHI1_000146" "g.135748364A>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2705T>A" "" "Germline" "" "" "0" "" "" "g.135427226A>T" "" "pathogenic" "" "0000783611" "2" "90" "6" "135748364" "135748364" "subst" "4.10634E-6" "00000" "AHI1_000146" "g.135748364A>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "NM_001134831.1:c.2705T>A" "" "Germline" "" "" "0" "" "" "g.135427226A>T" "" "pathogenic" "" "0000785429" "0" "50" "6" "135748409" "135748409" "subst" "5.76606E-5" "00000" "AHI1_000071" "g.135748409T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.135427271T>C" "" "VUS" "" "0000785434" "0" "50" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "{PMID:Kroes 2016:25920555}" "" "" "" "Germline" "" "" "0" "" "" "g.135323233T>C" "" "VUS" "" "0000785968" "0" "77" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830Wd)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000785987" "0" "55" "6" "135778794" "135778794" "subst" "0.000853187" "00008" "AHI1_000004" "g.135778794T>C" "" "{PMID:Tory 2007:17409309}" "" "c.989 A>G (D330G)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000785989" "0" "99" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830Wd)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785991" "0" "99" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830Wd)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785994" "0" "99" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830Wd)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785997" "0" "99" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830Wd)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000785999" "0" "99" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830Wd)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000786013" "1" "55" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "c.2488 C>T (R830W)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786016" "1" "55" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "C2488T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786021" "1" "55" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "C2488T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786023" "1" "55" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "C2488T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786025" "1" "55" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "C2488T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786026" "1" "55" "6" "135751024" "135751024" "subst" "0.0202987" "00008" "AHI1_000006" "g.135751024G>A" "" "{PMID:Tory 2007:17409309}" "" "C2488T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786726" "3" "90" "6" "135778795" "135778795" "delins" "0" "00006" "AHI1_000175" "g.135778795delinsTATTATTTA" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs777241163" "0" "" "" "g.135457657delinsTATTATTTA" "" "pathogenic" "" "0000786727" "3" "70" "6" "135777065" "135777065" "subst" "0" "00006" "AHI1_000174" "g.135777065C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.135455927C>G" "" "likely pathogenic" "" "0000786728" "1" "90" "6" "135754263" "135754263" "subst" "2.44067E-5" "00006" "AHI1_000044" "g.135754263C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.135433125C>T" "" "pathogenic" "" "0000787194" "3" "50" "6" "135787331" "135787331" "subst" "0" "00006" "AHI1_000176" "g.135787331T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.135466193T>C" "" "VUS" "" "0000787195" "3" "50" "6" "135759570" "135759570" "subst" "0" "00006" "AHI1_000173" "g.135759570A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs772560701" "0" "" "" "g.135438432A>T" "" "VUS" "" "0000787440" "2" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.135433081G>A" "" "pathogenic" "" "0000787698" "1" "70" "6" "135787048" "135787048" "subst" "0.000479329" "00000" "AHI1_000123" "g.135787048T>C" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135465910T>C" "" "likely pathogenic" "" "0000787730" "2" "70" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.135323233T>C" "" "likely pathogenic" "" "0000791764" "0" "70" "6" "135752422" "135752422" "subst" "0" "00000" "AHI1_000150" "g.135752422C>T" "" "{PMID:Brooks 2018:30055837}" "" "c.2297G>A; p.G766E" "" "Germline" "?" "" "0" "" "" "g.135431284C>T" "" "likely pathogenic" "" "0000791765" "0" "70" "6" "135787039" "135787039" "subst" "0" "00000" "AHI1_000180" "g.135787039G>T" "" "{PMID:Brooks 2018:30055837}" "" "c.662C>A; p.S221*" "" "Germline" "?" "" "0" "" "" "g.135465901G>T" "" "likely pathogenic" "" "0000791766" "0" "70" "6" "135759573" "135759573" "subst" "0" "00000" "AHI1_000160" "g.135759573T>A" "" "{PMID:Brooks 2018:30055837}" "" "c.1976A>T; p.D659V" "" "Germline" "?" "" "0" "" "" "g.135438435T>A" "" "likely pathogenic" "" "0000791767" "0" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Brooks 2018:30055837}" "" "c.910_911insA; p.T304Nfs*6" "" "Germline" "?" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000791768" "0" "70" "6" "135778668" "135778668" "subst" "0" "00000" "AHI1_000170" "g.135778668T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.1115A>G; p.N372G" "" "Germline" "?" "" "0" "" "" "g.135457530T>C" "" "likely pathogenic" "" "0000791769" "0" "70" "6" "135786965" "135786965" "subst" "6.32903E-6" "00000" "AHI1_000105" "g.135786965T>A" "" "{PMID:Brooks 2018:30055837}" "" "c.736A>T; p.K246*" "" "Germline" "?" "" "0" "" "" "g.135465827T>A" "" "likely pathogenic" "" "0000791852" "0" "70" "6" "135759552" "135759552" "subst" "1.0577E-5" "00000" "AHI1_000159" "g.135759552T>A" "" "{PMID:Brooks 2018:30055837}" "" "c.1997 A>T; p.N666V" "" "Germline" "?" "" "0" "" "" "g.135438414T>A" "" "likely pathogenic" "" "0000791853" "0" "70" "6" "135769471" "135769471" "subst" "0" "00000" "AHI1_000179" "g.135769471G>C" "" "{PMID:Brooks 2018:30055837}" "" "c.1583C>G; p.S528*" "" "Germline" "?" "" "0" "" "" "g.135448333G>C" "" "likely pathogenic" "" "0000791854" "0" "70" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.2212C>T; p.R738*" "" "Germline" "?" "" "0" "" "" "g.135433081G>A" "" "likely pathogenic" "" "0000791855" "0" "70" "6" "135754326" "135754326" "subst" "2.03515E-5" "00000" "AHI1_000141" "g.135754326G>A" "" "{PMID:Brooks 2018:30055837}" "" "c.2105C>T; p.T702M" "" "Germline" "?" "" "0" "" "" "g.135433188G>A" "" "likely pathogenic" "" "0000791856" "0" "70" "6" "135754258" "135754258" "subst" "0" "00000" "AHI1_000152" "g.135754258A>G" "" "{PMID:Brooks 2018:30055837}" "" "c.2173T>C; p.W725R" "" "Germline" "?" "" "0" "" "" "g.135433120A>G" "" "likely pathogenic" "" "0000791857" "0" "70" "6" "135749895" "135749895" "subst" "0" "00000" "AHI1_000148" "g.135749895A>C" "" "{PMID:Brooks 2018:30055837}" "" "c.2495T>G; p.L832*" "" "Germline" "?" "" "0" "" "" "g.135428757A>C" "" "likely pathogenic" "" "0000791986" "0" "90" "6" "135748398" "135748398" "subst" "0" "00000" "AHI1_000177" "g.135748398G>A" "" "{PMID:Otto 2011:21068128}" "" "c.2671C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792206" "3" "50" "6" "135754259" "135754259" "del" "0" "00000" "AHI1_000178" "g.135754259delT" "" "{PMID:Chaki 2011:21422230}" "" "c.2172delA" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793979" "0" "90" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:alazami-2012:22693042}" "" "c.1328T>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000793987" "0" "90" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:alazami-2012:22693042}" "" "c.1328T>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000794024" "0" "90" "6" "135787445" "135787445" "subst" "0" "00000" "AHI1_000181" "g.135787445C>A" "" "{PMID:Nishiguchi-2012:22848652}" "" "c.255+1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000795035" "0" "90" "6" "135606756" "135606756" "subst" "0" "00000" "AHI1_000182" "g.135606756G>A" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.*27C >T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000795037" "0" "90" "6" "135606756" "135606756" "subst" "0" "00000" "AHI1_000182" "g.135606756G>A" "" "{PMID:M\'hamdi 2014:23432027}" "" "c.*729del C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000795056" "0" "90" "6" "135751024" "135751024" "subst" "0.0202987" "00000" "AHI1_000006" "g.135751024G>A" "" "{PMID:M\'hamdi 2014:23432027}" "" "p.R830W" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798450" "0" "90" "6" "135787184" "135787184" "subst" "0" "00000" "LAMA2_000000" "g.135787184T>A" "" "{PMID:Parisi-2006:16155189}" "" "517A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798451" "0" "90" "6" "135759554" "135759554" "subst" "0" "00000" "AHI1_000183" "g.135759554A>C" "" "{PMID:Parisi-2006:16155189}" "" "1995 T>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798452" "0" "70" "6" "135787039" "135787039" "subst" "4.33772E-6" "00000" "AHI1_000172" "g.135787039G>C" "" "{PMID:Parisi-2006:16155189}" "" "662C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798453" "0" "90" "6" "135763734" "135763735" "dup" "0" "00000" "AHI1_000162" "g.135763734_135763735dup" "" "{PMID:Parisi-2006:16155189}" "" "1898insGG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798454" "0" "90" "6" "135778853" "135778853" "subst" "0" "00000" "AHI1_000187" "g.135778853T>C" "" "{PMID:Parisi-2006:16155189}" "" "IVS8 (-2 A>G)" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798455" "0" "90" "6" "135776956" "135776956" "subst" "1.31712E-5" "00000" "AHI1_000168" "g.135776956C>T" "" "{PMID:Parisi-2006:16155189}" "" "1260 G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798456" "3" "90" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Parisi-2006:16155189}" "" "1267 C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798457" "3" "90" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Parisi-2006:16155189}" "" "1267 C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798458" "0" "90" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Parisi-2006:16155189}" "" "1267 C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798459" "0" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Parisi-2006:16155189}" "" "2212 C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798460" "3" "90" "6" "135774473" "135774474" "ins" "0" "00000" "AHI1_000186" "g.135774473_135774474insGTAA" "" "{PMID:Parisi-2006:16155189}" "" "IVS11 (+5 ins TTAC)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000798461" "3" "90" "6" "135763719" "135763719" "subst" "0" "00000" "AHI1_000184" "g.135763719C>A" "" "{PMID:Parisi-2006:16155189}" "" "IVS14 (+1 G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798462" "3" "90" "6" "135754275" "135754275" "subst" "0" "00000" "AHI1_000154" "g.135754275T>C" "" "{PMID:Parisi-2006:16155189}" "" "2156 A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000798463" "0" "90" "6" "135751060" "135751060" "subst" "0" "00000" "LAMA2_000000" "g.135751060A>G" "" "{PMID:Parisi-2006:16155189}" "" "2452 T>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798464" "3" "90" "6" "135759632" "135759632" "subst" "0" "00000" "AHI1_000161" "g.135759632A>T" "" "{PMID:Parisi-2006:16155189}" "" "1917 T>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798465" "3" "90" "6" "135759537" "135759537" "subst" "0" "00000" "AHI1_000158" "g.135759537G>A" "" "{PMID:Parisi-2006:16155189}" "" "2012C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000798466" "3" "90" "6" "135748382" "135748382" "subst" "0" "00000" "AHI1_000147" "g.135748382T>C" "" "{PMID:Parisi-2006:16155189}" "" "2687 A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000798467" "3" "70" "6" "135784406" "135784407" "ins" "0" "00000" "AHI1_000188" "g.135784406_135784407insG" "" "{PMID:Parisi-2006:16155189}" "" "c.787 ins C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798468" "3" "70" "6" "135763743" "135777028" "del" "0" "00000" "AHI1_000185" "g.135763743_135777028delCA" "" "{PMID:Parisi-2006:16155189}" "" "1188-9 del TG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798469" "3" "70" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Parisi-2006:16155189}" "" "1328 T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798470" "3" "70" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Parisi-2006:16155189}" "" "1328 T>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798471" "3" "70" "6" "135778732" "135778732" "subst" "0" "00000" "AHI1_000118" "g.135778732G>A" "" "{PMID:Parisi-2006:16155189}" "" "1051 C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798472" "3" "70" "6" "135776913" "135776913" "subst" "4.31771E-6" "00000" "AHI1_000010" "g.135776913G>A" "" "{PMID:Parisi-2006:16155189}" "" "1303 C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000802320" "0" "10" "6" "135611570" "135611570" "subst" "0.00137509" "02330" "AHI1_000189" "g.135611570A>G" "" "" "" "AHI1(NM_001350503.2):c.3579T>C (p.T1193=), AHI1(NM_017651.4):c.3579T>C (p.T1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802321" "0" "50" "6" "135644432" "135644432" "subst" "4.48222E-5" "02330" "AHI1_000190" "g.135644432G>A" "" "" "" "AHI1(NM_001134831.2):c.3196C>T (p.(Arg1066Ter)), AHI1(NM_001350503.2):c.3196C>T (p.R1066*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802322" "0" "50" "6" "135709130" "135709130" "subst" "0" "01943" "AHI1_000191" "g.135709130T>C" "" "" "" "AHI1(NM_001134832.1):c.3151A>G (p.K1051E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802323" "0" "30" "6" "135726118" "135726118" "subst" "9.42623E-5" "02330" "AHI1_000192" "g.135726118A>G" "" "" "" "AHI1(NM_001350503.2):c.2962-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802324" "0" "90" "6" "135776956" "135776956" "subst" "1.31712E-5" "02330" "AHI1_000168" "g.135776956C>T" "" "" "" "AHI1(NM_001350503.2):c.1260G>A (p.W420*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802325" "0" "70" "6" "135777066" "135777066" "del" "0" "01943" "AHI1_000193" "g.135777066del" "" "" "" "AHI1(NM_001134831.1):c.1152-2delA (p.?), AHI1(NM_001350503.1):c.1152-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802326" "0" "90" "6" "135811812" "135811825" "del" "0" "02325" "AHI1_000194" "g.135811812_135811825del" "" "" "" "AHI1(NM_017651.5):c.72_85delTGATCTAATGCGTG (p.S24Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811820" "0" "70" "1" "135611665" "135611665" "subst" "0" "00000" "AHI1_000001" "g.135611665T>A" "" "{PMID:Gao 2019:31054281}" "" "c.3486-2A>T" "heterozygous" "Germline" "?" "" "0" "" "" "g.135290527T>A" "" "likely pathogenic" "" "0000811821" "0" "70" "5" "135611665" "135611665" "subst" "0" "00000" "AHI1_000001" "g.135611665T>A" "" "{PMID:Gao 2019:31054281}" "" "c.3486-2A>T" "heterozygous" "Germline" "?" "" "0" "" "" "g.135290527T>A" "" "likely pathogenic" "" "0000813976" "0" "50" "6" "135751024" "135751024" "subst" "0.0202987" "00000" "AHI1_000006" "g.135751024G>A" "" "{PMID:Redin-2012:22773737}" "" "c.[2488C>T];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813991" "0" "50" "6" "135768282" "135768282" "subst" "0.0111283" "00000" "AHI1_000050" "g.135768282C>T" "" "{PMID:Redin-2012:22773737}" "" "AHI1/JBTS3:p.[R548H];=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814021" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Redin-2012:22773737}" "" "AHI1/JBTS3:p.[R830W];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814022" "3" "90" "6" "135787351" "135787351" "subst" "0" "00000" "AHI1_000195" "g.135787351C>T" "" "{PMID:Redin-2012:22773737}" "" "c.[345+5G>A];[345+5G>A]" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000814029" "0" "50" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Redin-2012:22773737}" "" "AHI1/JBTS3:p.[R830W];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000814076" "0" "70" "6" "135751024" "135751024" "subst" "0.0202987" "00000" "AHI1_000006" "g.135751024G>A" "" "{PMID:M\'hamdi-2014:23432027}" "" "AHI1: p.R830W" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000814079" "0" "50" "6" "135606756" "135606756" "subst" "0" "00000" "AHI1_000182" "g.135606756G>A" "" "{PMID:M\'hamdi-2014:23432027}" "" "AHI1: c.*27C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000817524" "3" "70" "6" "135759537" "135759537" "subst" "0" "00000" "AHI1_000158" "g.135759537G>A" "" "{PMID:Knopp 2015:26003401}" "" "JBTS3:p.Thr671Ile" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817527" "3" "70" "6" "135759618" "135759618" "subst" "0" "00000" "AHI1_000196" "g.135759618C>T" "" "{PMID:Knopp 2015:26003401}" "" "JBTS3:p.Gly644Glu" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817528" "3" "70" "6" "135759618" "135759618" "subst" "0" "00000" "AHI1_000196" "g.135759618C>T" "" "{PMID:Knopp 2015:26003401}" "" "JBTS3:p.Gly644Glu" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817555" "3" "30" "6" "135751024" "135751024" "subst" "0.0202987" "00000" "AHI1_000006" "g.135751024G>A" "" "{PMID:Knopp 2015:26003401}" "" "JBTS3:c.2488C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817556" "3" "30" "6" "135749885" "135749885" "subst" "0.00374786" "00000" "AHI1_000080" "g.135749885C>T" "" "{PMID:Knopp 2015:26003401}" "" "JBTS3:c.2505G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817557" "3" "30" "6" "135732649" "135732649" "subst" "0.00398903" "00000" "AHI1_000033" "g.135732649T>C" "" "{PMID:Knopp 2015:26003401}" "" "JBTS3:c.2798A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000817587" "0" "90" "6" "135759566" "135759566" "del" "1.12029E-5" "00000" "AHI1_000012" "g.135759566del" "" "{PMID:Watson 2016:26729329}" "" "c.1983del (p.Trp662Glyfs*24)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817588" "0" "90" "6" "135749895" "135749895" "del" "0" "00000" "AHI1_000013" "g.135749895del" "" "{PMID:Watson 2016:26729329}" "" "c.2495del (p.Leu832*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817589" "0" "90" "6" "135749895" "135749895" "del" "0" "00000" "AHI1_000013" "g.135749895del" "" "{PMID:Watson 2016:26729329}" "" "c.2495del (p.Leu832*)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818177" "3" "70" "6" "135784353" "135784353" "subst" "0" "00000" "AHI1_000143" "g.135784353C>A" "" "{PMID:Enokizono 2017:28431631}" "" "c.841G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818178" "0" "70" "6" "135754257" "135754257" "subst" "1.62714E-5" "00000" "AHI1_000014" "g.135754257C>T" "" "{PMID:Enokizono 2017:28431631}" "" "c.2174G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818179" "0" "70" "6" "135769554" "135769564" "del" "0" "00000" "AHI1_000197" "g.135769554_135769564del" "" "{PMID:Enokizono 2017:28431631}" "" "c.1490_1500delGTAATATAGCT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818180" "0" "70" "6" "135784284" "135784291" "ins" "0" "00000" "AHI1_000198" "g.135784284_135784291insT" "" "{PMID:Enokizono 2017:28431631}" "" "c.903_910insA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818181" "0" "70" "6" "135754326" "135754326" "subst" "2.03515E-5" "00000" "AHI1_000141" "g.135754326G>A" "" "{PMID:Enokizono 2017:28431631}" "" "c.2105C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818255" "0" "90" "6" "135786965" "135786965" "subst" "6.32903E-6" "00000" "AHI1_000105" "g.135786965T>A" "" "{PMID:Summers 2017:28497568}" "" "c.736A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818256" "0" "90" "6" "135749895" "135749895" "subst" "0" "00000" "AHI1_000148" "g.135749895A>C" "" "{PMID:Summers 2017:28497568}" "" "c.2495T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818305" "0" "90" "6" "135759573" "135759573" "subst" "0" "00000" "AHI1_000160" "g.135759573T>A" "" "{PMID:Summers 2017:28497568}" "" "c.1976A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818306" "0" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Summers 2017:28497568}" "" "c.2212C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818333" "0" "90" "6" "135759552" "135759552" "subst" "1.0577E-5" "00000" "AHI1_000159" "g.135759552T>A" "" "{PMID:Summers 2017:28497568}" "" "c.1997A>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818334" "0" "90" "6" "135752422" "135752422" "subst" "0" "00000" "AHI1_000150" "g.135752422C>T" "" "{PMID:Summers 2017:28497568}" "" "c.2297G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818335" "0" "90" "6" "135769471" "135769471" "subst" "0" "00000" "AHI1_000179" "g.135769471G>C" "" "{PMID:Summers 2017:28497568}" "" "c.1583C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818336" "0" "90" "6" "135787039" "135787039" "subst" "0" "00000" "AHI1_000180" "g.135787039G>T" "" "{PMID:Summers 2017:28497568}" "" "c.662C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818354" "0" "90" "6" "135778668" "135778668" "subst" "0" "00000" "AHI1_000170" "g.135778668T>C" "" "{PMID:Summers 2017:28497568}" "" "c.1115A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818355" "0" "90" "6" "135754258" "135754258" "subst" "0" "00000" "AHI1_000152" "g.135754258A>G" "" "{PMID:Summers 2017:28497568}" "" "c.2173T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818380" "0" "90" "6" "135754326" "135754326" "subst" "2.03515E-5" "00000" "AHI1_000141" "g.135754326G>A" "" "{PMID:Summers 2017:28497568}" "" "c.2105C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818381" "0" "90" "6" "135784284" "135784284" "dup" "0" "00000" "AHI1_000171" "g.135784284dup" "" "{PMID:Summers 2017:28497568}" "" "c.910dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818398" "3" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "00000" "AHI1_000014" "g.135754257C>T" "" "{PMID:Surl 2020:32165824}" "" "c.2174G>A:p.(Trp725*)" "homozygous" "Germline" "?" "" "0" "" "" "g.135433119C>T" "" "pathogenic (recessive)" "ACMG" "0000820153" "1" "70" "6" "135726083" "135726083" "subst" "3.67149E-5" "00000" "AHI1_000199" "g.135726083A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "AHI1, variant 1: c.2988+6T>C/p.?, variant 2 :Deletion exon 13-15" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.135404945A>G" "" "likely pathogenic" "" "0000820825" "1" "70" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "AHI1, variant 1: c.2988+6T>C/p.?, variant 2 :Deletion exon 13-15" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000821151" "0" "70" "6" "135749820" "135749821" "ins" "8.28741E-6" "00000" "AHI1_000200" "g.135749820_135749821insCT" "" "{PMID:Turro 2020:32581362}" "" "AHI1 c.2569_2570insAG, p.Phe857Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.135428682_135428683insCT" "" "likely pathogenic" "" "0000821465" "3" "70" "6" "135759007" "135762232" "del" "0" "00000" "LAMA2_000000" "g.135759007_135762232del" "" "{PMID:Turro 2020:32581362}" "" "chr6:g.135759007_135762232del" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000821522" "0" "70" "6" "135726092" "135726092" "del" "0" "00000" "AHI1_000128" "g.135726092del" "" "{PMID:Turro 2020:32581362}" "" "AHI1 c.2988delA, p.Val997SerfsTer20" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.135404954del" "" "likely pathogenic" "" "0000822180" "0" "90" "6" "135778798" "135778798" "subst" "4.06279E-6" "00000" "AHI1_000009" "g.135778798G>A" "" "{PMID:Toma-2018:29987673}" "" "c.985C>T: p.R329X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822181" "0" "90" "6" "135769504" "135769504" "subst" "0" "00000" "AHI1_000201" "g.135769504C>T" "" "{PMID:Toma-2018:29987673}" "" "c.1550G>A: p.W517X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822182" "0" "90" "6" "135778798" "135778798" "subst" "4.06279E-6" "00000" "AHI1_000009" "g.135778798G>A" "" "{PMID:Toma-2018:29987673}" "" "c.985C>T: p.R329X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000822183" "0" "90" "6" "135769504" "135769504" "subst" "0" "00000" "AHI1_000201" "g.135769504C>T" "" "{PMID:Toma-2018:29987673}" "" "c.1550G>A: p.W517X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000823455" "0" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Sallum 2020:32865313}" "" "AHI1 c.2212C>T; p.Arg738Ter" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135433081G>A" "" "pathogenic" "ACMG" "0000823456" "0" "70" "6" "135748328" "135748328" "del" "0" "00000" "AHI1_000202" "g.135748328del" "" "{PMID:Sallum 2020:32865313}" "" "AHI1 c.2742deIT; p.Leu915CysfsTer64" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135427190del" "" "likely pathogenic" "ACMG" "0000823457" "0" "90" "6" "135749766" "135749766" "subst" "0" "00000" "AHI1_000203" "g.135749766C>A" "" "{PMID:Sallum 2020:32865313}" "" "AHI1 c.2623+1G>T" "homozygous" "Unknown" "?" "" "0" "" "" "g.135428628C>A" "" "pathogenic" "ACMG" "0000823551" "0" "90" "6" "135777012" "135777012" "del" "0" "00000" "AHI1_000137" "g.135777012del" "" "{PMID:Sallum 2020:32865313}" "" "AHI1 c.1205deIC; p.Pro402LeufsTer3" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135455874del" "" "pathogenic" "ACMG" "0000823553" "0" "50" "6" "135763803" "135763803" "subst" "8.2573E-6" "00000" "AHI1_000204" "g.135763803C>G" "" "{PMID:Sallum 2020:32865313}" "" "AHI1 c.1829G>C; p.Arg610Pro" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135442665C>G" "" "VUS" "ACMG" "0000823719" "2" "90" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Repo 2021:32901921}" "" "AHI1, chr6:135776888A>T, c.1328T>A, p.Val443Asp, rs121434350" "heterozygous" "Unknown" "?" "rs121434350" "0" "" "" "g.135455750A>T" "" "pathogenic" "ACMG" "0000823722" "1" "90" "6" "135715991" "135715991" "subst" "6.43644E-5" "00000" "AHI1_000075" "g.135715991G>C" "" "{PMID:Repo 2021:32901921}" "" "AHI1, chr6:135715991G>C, c.3032C>G, p.Ser1011*, rs777215595" "heterozygous" "Unknown" "?" "rs777215595" "0" "" "" "g.135394853G>C" "" "pathogenic" "ACMG" "0000824696" "0" "50" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Ma 2021:33691693}" "" "AHI1 c.910dupA, p.T304fs" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.135463153dup" "" "VUS" "ACMG" "0000824784" "0" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "00000" "AHI1_000014" "g.135754257C>T" "" "{PMID:Ma 2021:33691693}" "" "AHI1 c.G2174A, p.W725X" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "ACMG" "0000828531" "0" "70" "6" "135754263" "135754263" "subst" "2.44067E-5" "00000" "AHI1_000044" "g.135754263C>T" "" "{PMID:Perea-Romero 2021:34448047}" "" "AHI1, c.2168G>A, p.Arg723Gln, compound heterozygous" "" "Unknown" "?" "" "0" "" "" "g.135433125C>T" "" "likely pathogenic" "ACMG" "0000828532" "0" "50" "6" "135759552" "135759552" "subst" "0" "00000" "AHI1_000206" "g.135759552T>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "AHI1, c.1997A>G, p.Asp666Gly, compound heterozygous" "" "Unknown" "?" "" "0" "" "" "g.135438414T>C" "" "VUS" "ACMG" "0000828538" "1" "70" "6" "135759638" "135759638" "subst" "0" "00000" "AHI1_000207" "g.135759638T>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "AHI1, c.1913-2A>G, p.?, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.135438500T>C" "" "likely pathogenic" "ACMG" "0000828539" "2" "70" "6" "135732674" "135732674" "subst" "0" "00000" "AHI1_000205" "g.135732674G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "AHI1, c.2773C>T, p.Gln925*, compound heterozygous" "" "Germline" "yes" "" "0" "" "" "g.135411536G>A" "" "likely pathogenic" "ACMG" "0000828558" "3" "70" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Perea-Romero 2021:34448047}" "" "AHI1, c.(1779+1_1780-1)_(1912+1_1913-1)del, Ex13 deletion, homozygous" "" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "ACMG" "0000841165" "3" "90" "6" "135778732" "135778732" "subst" "0" "00006" "AHI1_000118" "g.135778732G>A" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.135457594G>A" "" "pathogenic (recessive)" "" "0000845905" "0" "70" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "{PMID:Kang 2016:27491411}" "" "AHI1/JBTS3 c.3257A>G, p.Glu1086Gly" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.135323233T>C" "" "likely pathogenic" "" "0000847235" "3" "70" "6" "135784407" "135784407" "dup" "0" "00000" "AHI1_000228" "g.135784407dup" "" "{PMID:Dixon-Salazar 2004:15467982}" "" "AHI1 787insC, fsX270" "c.787insC automapped to c.787dupC; homozygous" "Germline" "yes" "" "0" "" "" "g.135463269dup" "" "likely pathogenic" "" "0000847236" "3" "70" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Dixon-Salazar 2004:15467982}" "" "AHI1 T1328A, V443D" "homozygous" "Germline" "yes" "" "0" "" "" "g.135455750A>T" "" "likely pathogenic" "" "0000847237" "3" "70" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Dixon-Salazar 2004:15467982}" "" "AHI1 T1328A, V443D" "homozygous" "Germline" "yes" "" "0" "" "" "g.135455750A>T" "" "likely pathogenic" "" "0000847238" "3" "70" "6" "135777027" "135777028" "del" "0" "00000" "AHI1_000208" "g.135777027_135777028del" "" "{PMID:Dixon-Salazar 2004:15467982}" "" "AHI1 1188-89delTG" "c.1188_1189delTG automapped to c.1190_1191delTG; homozygous" "Germline" "yes" "" "0" "" "" "g.135455889_135455890del" "" "likely pathogenic" "" "0000847254" "3" "70" "6" "135752349" "135752349" "dup" "0" "00000" "AHI1_000212" "g.135752349dup" "" "{PMID:Utsch 2006:16240161}" "" "AHI1 2369insT" "automapped to c.2370dupT; homozygous" "Germline" "yes" "" "0" "" "" "g.135431211dup" "" "likely pathogenic" "" "0000847255" "3" "70" "6" "135752349" "135752349" "dup" "0" "00000" "AHI1_000212" "g.135752349dup" "" "{PMID:Utsch 2006:16240161}" "" "AHI1 2369insT" "automapped to c.2370dupT; homozygous" "Germline" "yes" "" "0" "" "" "g.135431211dup" "" "likely pathogenic" "" "0000847256" "1" "70" "6" "135787020" "135787343" "del" "0" "00000" "AHI1_000229" "g.135787020_135787343del" "" "{PMID:Utsch 2006:16240161}" "" "AHI1 365-688del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135465882_135466205del" "" "likely pathogenic" "" "0000847257" "2" "70" "6" "135787256" "135787256" "dup" "0" "00000" "AHI1_000232" "g.135787256dup" "" "{PMID:Utsch 2006:16240161}" "" "AHI1 444insA" "automapped to c.446dupA; heterozygous" "Germline" "yes" "" "0" "" "" "g.135466118dup" "" "likely pathogenic" "" "0000847258" "3" "70" "6" "135644364" "135644365" "del" "0" "00000" "AHI1_000211" "g.135644364_135644365del" "" "{PMID:Valente 2006:16453322}" "" "AHI1 3263-3264delGG, fs1103X" "obsolete annotation; homozygous" "Germline" "yes" "" "0" "" "" "g.135323226_135323227del" "" "likely pathogenic" "" "0000847259" "3" "70" "6" "135644364" "135644365" "del" "0" "00000" "AHI1_000211" "g.135644364_135644365del" "" "{PMID:Valente 2006:16453322}" "" "AHI1 3263-3264delGG, fs1103X" "obsolete annotation; homozygous" "Germline" "yes" "" "0" "" "" "g.135323226_135323227del" "" "likely pathogenic" "" "0000847260" "3" "70" "6" "135768160" "135768160" "subst" "4.09715E-6" "00000" "AHI1_000222" "g.135768160G>A" "" "{PMID:Valente 2006:16453322}" "" "AHI1 C1765T, R589X" "obsolete annotation; homozygous" "Germline" "yes" "" "0" "" "" "g.135447022G>A" "" "likely pathogenic" "" "0000847261" "1" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Valente 2006:16453322}" "" "AHI1 903insA, fs309X splice" "obsolete annotation; automapped to c.911dupC; heterozygous" "Germline" "yes" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000847262" "1" "70" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Valente 2006:16453322}" "" "AHI1 C1267T, Q423X" "obsolete annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.135455811G>A" "" "likely pathogenic" "" "0000847263" "1" "70" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Valente 2006:16453322}" "" "AHI1 C2212T, R738X" "obsolete annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.135433081G>A" "" "likely pathogenic" "" "0000847264" "1" "70" "6" "135787039" "135787039" "subst" "4.33772E-6" "00000" "AHI1_000172" "g.135787039G>C" "" "{PMID:Valente 2006:16453322}" "" "AHI1 C662G, S221X" "obsolete annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.135465901G>C" "" "likely pathogenic" "" "0000847265" "1" "70" "6" "135784283" "135784283" "dup" "0" "00000" "AHI1_000226" "g.135784283dup" "" "{PMID:Valente 2006:16453322}" "" "AHI1 911insC, fs309X" "obsolete annotation; automapped to c.910dupA; heterozygous" "Germline" "yes" "" "0" "" "" "g.135463145dup" "" "likely pathogenic" "" "0000847266" "3" "70" "6" "135754263" "135754263" "subst" "2.44067E-5" "00000" "AHI1_000044" "g.135754263C>T" "" "{PMID:Valente 2006:16453322}" "" "AHI1 G2168A, R723Q" "obsolete annotation; homozygous" "Germline" "yes" "" "0" "" "" "g.135433125C>T" "" "likely pathogenic" "" "0000847267" "0" "70" "6" "135769554" "135769554" "subst" "0" "00000" "AHI1_000223" "g.135769554G>T" "" "{PMID:Valente 2006:16453322}" "" "AHI1 C1500A not, Y500X not" "obsolete annotation; single heterozygous varant in a recessive disease, no second allele found" "Germline" "yes" "" "0" "" "" "g.135448416G>T" "" "likely pathogenic" "" "0000847268" "1" "70" "6" "135763732" "135763732" "dup" "0" "00000" "AHI1_000219" "g.135763732dup" "" "{PMID:Valente 2006:16453322}" "" "AHI1 1899insT, fs228X" "obsolete annotation; automapped to c.1900dupT; heterozygous" "Germline" "yes" "" "0" "" "" "g.135442594dup" "" "likely pathogenic" "" "0000847269" "2" "70" "6" "135763719" "135763719" "subst" "0" "00000" "AHI1_000218" "g.135763719C>T" "" "{PMID:Valente 2006:16453322}" "" "AHI1 IVS14+1G A, splice mutation" "obsolete annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.135442581C>T" "" "likely pathogenic" "" "0000847270" "2" "70" "6" "135774502" "135774502" "del" "0" "00000" "AHI1_000224" "g.135774502del" "" "{PMID:Valente 2006:16453322}" "" "AHI1 1417delA, fs509X" "obsolete annotation; automapped to c.1420delA; heterozygous" "Germline" "yes" "" "0" "" "" "g.135453364del" "" "likely pathogenic" "" "0000847271" "2" "70" "6" "135769427" "135769427" "subst" "1.23769E-5" "00000" "AHI1_000164" "g.135769427C>T" "" "{PMID:Valente 2006:16453322}" "" "AHI1 IVS12+1G>A, splice mutation" "obsolete annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.135448289C>T" "" "likely pathogenic" "" "0000847272" "2" "70" "6" "135763734" "135763735" "dup" "0" "00000" "AHI1_000162" "g.135763734_135763735dup" "" "{PMID:Valente 2006:16453322}" "" "AHI1 1898insGG, fs648X" "obsolete annotation; automapped to c.1897_1898dupGG; heterozygous" "Germline" "yes" "" "0" "" "" "g.135442596_135442597dup" "" "likely pathogenic" "" "0000847273" "2" "70" "6" "135776949" "135776949" "subst" "4.84368E-5" "00000" "AHI1_000167" "g.135776949G>A" "" "{PMID:Valente 2006:16453322}" "" "AHI1 C1267T, Q423X" "obsolete annotation; heterozygous" "Germline" "yes" "" "0" "" "" "g.135455811G>A" "" "likely pathogenic" "" "0000847274" "2" "70" "6" "135787074" "135787077" "dup" "0" "00000" "AHI1_000231" "g.135787074_135787077dup" "" "{PMID:Valente 2006:16453322}" "" "AHI1 623insAAGA, fs640X" "obsolete annotation; automapped to c.630_633dupGAAA; heterozygous" "Germline" "yes" "" "0" "" "" "g.135465936_135465939dup" "" "likely pathogenic" "" "0000847275" "3" "70" "6" "135763804" "135763804" "subst" "1.23759E-5" "00000" "AHI1_000220" "g.135763804G>A" "" "{PMID:Romano 2006:16541367}" "" "AHI1 R610X" "obsolete annotation; homozygous" "Germline" "yes" "" "0" "" "" "g.135442666G>A" "" "likely pathogenic" "" "0000847277" "1" "70" "6" "135778798" "135778798" "subst" "4.06279E-6" "00000" "AHI1_000009" "g.135778798G>A" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.985C>T (p.Arg329X)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135457660G>A" "" "likely pathogenic" "" "0000847278" "2" "70" "6" "135754184" "135754184" "dup" "0" "00000" "AHI1_000213" "g.135754184dup" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.2247_2248insA (p.Leu750HisfsX4)" "heterozygous; automapped to c.2247dup" "Unknown" "?" "" "0" "" "" "g.135433046dup" "" "likely pathogenic" "" "0000847279" "1" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.910_911insA (p.Thr304AsnfsX6)" "heterozygous; automapped to c.910dup" "Unknown" "?" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000847280" "2" "70" "6" "135776913" "135776913" "subst" "4.31771E-6" "00000" "AHI1_000010" "g.135776913G>A" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.1303C>T (p.Arg435X)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135455775G>A" "" "likely pathogenic" "" "0000847281" "1" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.910_911insA (p.Thr304AsnfsX6)" "heterozygous; automapped to c.910dup" "Unknown" "?" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000847282" "2" "70" "6" "135754373" "135754376" "del" "0" "00000" "AHI1_000011" "g.135754373_135754376del" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.2057_2060delACAA (p.Asn686IlefsX23)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.135433235_135433238del" "" "likely pathogenic" "" "0000847283" "3" "30" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.3257A>G (p.Glu1086Gly)" "homozygous, likely polymorphism" "Unknown" "?" "" "0" "" "" "g.135323233T>C" "" "likely benign" "" "0000847284" "3" "30" "6" "135751024" "135751024" "subst" "0.0202987" "00000" "AHI1_000006" "g.135751024G>A" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.2488C>T (p.Arg830Trp)" "homozygous, likely polymorphism" "Unknown" "?" "" "0" "" "" "g.135429886G>A" "" "likely benign" "" "0000847285" "1" "30" "6" "135751024" "135751024" "subst" "0.0202987" "00000" "AHI1_000006" "g.135751024G>A" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.2488C>T (p.Arg830Trp)" "heterozygous, likely polymorphism" "Unknown" "?" "" "0" "" "" "g.135429886G>A" "" "likely benign" "" "0000847286" "2" "30" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.2961+7del15ins20" "error in annotation, deleted and inserted nucleotides not mentioned; heterozygous, likely polymorphism" "Unknown" "?" "" "0" "" "" "g.?" "" "likely benign" "" "0000847287" "0" "30" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.2961+7del15ins20" "error in annotation, deleted and inserted nucleotides not mentioned; single heterozygous, likely polymorphism" "Unknown" "?" "" "0" "" "" "g.?" "" "likely benign" "" "0000847288" "0" "30" "6" "135639715" "135639715" "subst" "0.00522715" "00000" "AHI1_000085" "g.135639715G>A" "" "{PMID:Kroes 2008:18054307}" "" "AHI1 c.3368C>T (p.Ser1123Phe)" "single heterozygous, likely polymorphism" "Unknown" "?" "" "0" "" "" "g.135318577G>A" "" "likely benign" "" "0000847304" "0" "90" "6" "135776956" "135776956" "subst" "1.31712E-5" "00000" "AHI1_000168" "g.135776956C>T" "" "{PMID:Tuz 2013:23532844}" "" "AHI1 c.1260GAp.W420X" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135455818C>T" "" "pathogenic" "" "0000847305" "0" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Tuz 2013:23532844}" "" "AHI1 c.2212CTp.R783X" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135433081G>A" "" "pathogenic" "" "0000847306" "0" "90" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Tuz 2013:23532844}" "" "AHI1 V443A" "homozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135455750A>T" "" "pathogenic" "" "0000847307" "0" "90" "6" "135778731" "135778731" "subst" "0" "00000" "AHI1_000119" "g.135778731C>A" "" "{PMID:Tuz 2013:23532844}" "" "AHI1 R351Leu" "homozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135457593C>A" "" "pathogenic" "" "0000847308" "0" "90" "6" "135777066" "135777066" "subst" "0" "00000" "AHI1_000169" "g.135777066T>C" "" "{PMID:Tuz 2013:23532844}" "" "AHI1 IVS8 c.1152-2a>g" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135455928T>C" "" "pathogenic" "" "0000847309" "0" "90" "6" "135759573" "135759573" "subst" "0" "00000" "AHI1_000160" "g.135759573T>A" "" "{PMID:Tuz 2013:23532844}" "" "AHI1 c.1976ATp.D659V" "heterozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135438435T>A" "" "pathogenic" "" "0000847312" "3" "90" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Alazami 2012:22693042}" "" "AHI1 c.1328T>A, p.V443D" "homozygous" "Germline" "yes" "" "0" "" "" "g.135455750A>T" "" "pathogenic" "" "0000847321" "3" "90" "6" "135776888" "135776888" "subst" "0" "00000" "AHI1_000002" "g.135776888A>T" "" "{PMID:Alazami 2012:22693042}" "" "AHI1 c.1328T>A, p.V443D" "homozygous" "Germline" "yes" "" "0" "" "" "g.135455750A>T" "" "pathogenic" "" "0000847324" "3" "30" "6" "135644432" "135644432" "subst" "4.48222E-5" "00000" "AHI1_000190" "g.135644432G>A" "" "{PMID:Elsayed 2015:25616960}" "" "AHI1 p.Arg1066* (c.3196C>T)" "homozygous; affected have the mutation along with an unaffected sister - non-causative variant" "Germline" "no" "" "0" "" "" "g.135323294G>A" "" "likely benign" "" "0000847325" "3" "70" "6" "135644364" "135644365" "del" "0" "00000" "AHI1_000211" "g.135644364_135644365del" "" "{PMID:Elsayed 2015:25616960}" "" "AHI1 c.3263_3264delGG (p.Trp1088Leufs*16)" "homozygous" "Germline" "yes" "" "0" "" "" "g.135323226_135323227del" "" "likely pathogenic" "" "0000847326" "3" "70" "6" "135644364" "135644365" "del" "0" "00000" "AHI1_000211" "g.135644364_135644365del" "" "{PMID:Elsayed 2015:25616960}" "" "AHI1 c.3263_3264delGG (p.Trp1088Leufs*16)" "homozygous" "Germline" "yes" "" "0" "" "" "g.135323226_135323227del" "" "likely pathogenic" "" "0000847328" "3" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Chafai-Elalaoui 2015:26541515}" "" "AHI1 c.910dup, p.Thr304AsnfsX6" "homozygous" "Germline" "yes" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000847329" "3" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Chafai-Elalaoui 2015:26541515}" "" "AHI1 c.910dup, p.Thr304AsnfsX6" "homozygous" "Germline" "yes" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000847330" "3" "70" "6" "135784291" "135784291" "dup" "0" "00000" "AHI1_000171" "g.135784291dup" "" "{PMID:Chafai-Elalaoui 2015:26541515}" "" "AHI1 c.910dup, p.Thr304AsnfsX6" "homozygous" "Germline" "yes" "" "0" "" "" "g.135463153dup" "" "likely pathogenic" "" "0000847331" "0" "70" "6" "135759568" "135759568" "subst" "0" "00000" "AHI1_000217" "g.135759568A>G" "" "{PMID:Salva 2016:26759440}" "" "AHI1 c.1981T>C" "homozygous" "Germline" "yes" "" "0" "" "" "g.135438430A>G" "" "likely pathogenic" "" "0000847341" "1" "70" "6" "135754257" "135754257" "subst" "1.62714E-5" "00000" "AHI1_000014" "g.135754257C>T" "" "{PMID:Nguyen 2017:28442542}" "" "AHI1 c.2174G>A, p.Trp725*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135433119C>T" "" "likely pathogenic" "" "0000847342" "1" "70" "6" "135787043" "135787043" "del" "0" "00000" "AHI1_000230" "g.135787043del" "" "{PMID:Nguyen 2017:28442542}" "" "AHI1 c.660delC, p.Ser221fs" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135465905del" "" "likely pathogenic" "" "0000847343" "1" "70" "6" "135754344" "135754344" "subst" "0" "00000" "AHI1_000131" "g.135754344T>C" "" "{PMID:Nguyen 2017:28442542}" "" "AHI1 c.2087A>G, p.His696Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135433206T>C" "" "likely pathogenic" "" "0000847344" "2" "70" "6" "135754173" "135754173" "subst" "0" "00000" "AHI1_000015" "g.135754173T>A" "" "{PMID:Nguyen 2017:28442542}" "" "AHI1 c.2258A>T, p.Asp753Val" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135433035T>A" "" "likely pathogenic" "" "0000847345" "2" "70" "6" "135754341" "135754341" "subst" "0" "00000" "AHI1_000215" "g.135754341G>A" "" "{PMID:Nguyen 2017:28442542}" "" "AHI1 c.2090C>T, p.Pro697Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135433203G>A" "" "likely pathogenic" "" "0000847346" "2" "70" "6" "135751083" "135751083" "subst" "0" "00000" "AHI1_000130" "g.135751083G>A" "" "{PMID:Nguyen 2017:28442542}" "" "AHI1 c.2429C>T, p.Pro810Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135429945G>A" "" "likely pathogenic" "" "0000847350" "3" "70" "6" "135748382" "135748382" "subst" "0" "00000" "AHI1_000147" "g.135748382T>C" "" "{PMID:Rosati 2018:29334628}" "" "AHI1 c.2687A> G (p.H896R)" "homozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135427244T>C" "" "likely pathogenic" "" "0000847496" "21" "70" "6" "135778534" "135784545" "del" "0" "00000" "AHI1_000225" "g.135778534_135784545del" "" "{PMID:Zhu 2017:29390414}" "" "deletion chromosome 6:135778533–1357845" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135457396_135463407del" "" "likely pathogenic" "" "0000847497" "11" "70" "6" "135763836" "135763839" "del" "0" "00000" "AHI1_000221" "g.135763836_135763839del" "" "{PMID:Zhu 2017:29390414}" "" "AHI1 c.1799_1802delAACA" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135442698_135442701del" "" "likely pathogenic" "" "0000847498" "0" "70" "6" "135754263" "135754263" "subst" "2.44067E-5" "00000" "AHI1_000044" "g.135754263C>T" "" "{PMID:Altieri 2019:31202121}" "" "AHI1 c.2168G > A, p. Arg723Gln" "homozygous" "In vitro (cloned)" "?" "" "0" "" "" "g.135433125C>T" "" "likely pathogenic" "" "0000847499" "1" "70" "6" "135787003" "135787003" "dup" "0" "00000" "AHI1_000209" "g.135787003dup" "" "{PMID:Collard 2020:33777383}" "" "AHI1 c.703dupA, p.(Arg235LysfsTer12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135465865dup" "" "likely pathogenic" "" "0000847500" "2" "70" "6" "135754219" "135754219" "subst" "1.62688E-5" "00000" "AHI1_000081" "g.135754219G>A" "" "{PMID:Collard 2020:33777383}" "" "AHI1 c.2212C>T, p.(Arg738Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.135433081G>A" "" "likely pathogenic" "" "0000847501" "3" "70" "6" "135784362" "135784362" "subst" "4.08523E-6" "00000" "AHI1_000227" "g.135784362G>A" "" "{PMID:Karamzade 2021:34191236}" "" "AHI1 c.832C > T (p.Gln278Ter)" "homozygous" "Germline" "yes" "" "0" "" "" "g.135463224G>A" "" "likely pathogenic" "" "0000847502" "3" "70" "6" "135754325" "135754325" "subst" "4.07024E-6" "00000" "AHI1_000214" "g.135754325C>T" "" "{PMID:Tuncel 2021:34205586}" "" "AHI1 c.2106G>A (p.(Thr702=))" "homozygous" "Germline" "?" "" "0" "" "" "g.135433187C>T" "" "likely pathogenic" "" "0000847504" "3" "50" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "{PMID:Min 2017:28391287}" "" "AHI1 c.A3257G (p.E1086G)" "homozygous" "Germline" "yes" "" "0" "" "" "g.135323233T>C" "" "VUS" "" "0000847506" "3" "50" "6" "135644371" "135644371" "subst" "0.00366604" "00000" "AHI1_000007" "g.135644371T>C" "" "{PMID:Min 2017:28391287}" "" "AHI1 c.A3257G (p.E1086G)" "homozygous" "Germline" "yes" "" "0" "" "" "g.135323233T>C" "" "VUS" "" "0000847508" "3" "70" "6" "135754361" "135754361" "del" "0" "00000" "AHI1_000216" "g.135754361del" "" "{PMID:Bai 2020:32335874}" "" "AHI1 c.2072delT (p.F691S*fs19)" "homozygous (abstract only-based)" "Unknown" "?" "" "0" "" "" "g.135433223del" "" "likely pathogenic" "" "0000847511" "21" "50" "6" "135754326" "135754326" "subst" "2.03515E-5" "00000" "AHI1_000141" "g.135754326G>A" "" "{PMID:Chen 2021:34627237}" "" "AHI1 c.2105C>T (p.T702M)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.135433188G>A" "" "VUS" "ACMG" "0000847512" "11" "50" "6" "135776886" "135776886" "subst" "0" "00000" "AHI1_000210" "g.135776886T>A" "" "{PMID:Chen 2021:34627237}" "" "AHI1 c.1330A>T (p.I444F)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.135455748T>A" "" "VUS" "ACMG" "0000851074" "0" "30" "6" "135611646" "135611646" "subst" "0.00090721" "02326" "AHI1_000132" "g.135611646T>C" "" "" "" "AHI1(NM_001350503.1):c.3503A>G (p.E1168G), AHI1(NM_017651.4):c.3503A>G (p.E1168G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851075" "0" "30" "6" "135639665" "135639665" "subst" "0.000425738" "02326" "AHI1_000234" "g.135639665G>A" "" "" "" "AHI1(NM_001350503.2):c.3418C>T (p.P1140S), AHI1(NM_017651.4):c.3418C>T (p.P1140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851076" "0" "10" "6" "135644371" "135644371" "subst" "0.00366604" "02326" "AHI1_000007" "g.135644371T>C" "" "" "" "AHI1(NM_001134831.2):c.3257A>G (p.E1086G), AHI1(NM_017651.4):c.3257A>G (p.E1086G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851077" "0" "30" "6" "135749886" "135749886" "subst" "2.15185E-5" "02330" "AHI1_000236" "g.135749886C>T" "" "" "" "AHI1(NM_001350503.2):c.2504G>A (p.R835K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851078" "0" "30" "6" "135751022" "135751022" "subst" "0.000424977" "01943" "AHI1_000237" "g.135751022C>T" "" "" "" "AHI1(NM_001350503.1):c.2490G>A (p.R830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851079" "0" "30" "6" "135751130" "135751130" "subst" "0.000343581" "02330" "AHI1_000238" "g.135751130T>C" "" "" "" "AHI1(NM_001350503.2):c.2382A>G (p.K794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851080" "0" "30" "6" "135769521" "135769521" "subst" "0.0001504" "01943" "AHI1_000240" "g.135769521A>C" "" "" "" "AHI1(NM_001350503.1):c.1533T>G (p.V511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851081" "0" "30" "6" "135784450" "135784450" "subst" "4.34643E-6" "02330" "AHI1_000242" "g.135784450A>G" "" "" "" "AHI1(NM_001350503.2):c.750-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851082" "0" "50" "6" "135787048" "135787048" "subst" "0.000479329" "01943" "AHI1_000123" "g.135787048T>C" "" "" "" "AHI1(NM_001350503.1):c.653A>G (p.Y218C), AHI1(NM_017651.4):c.653A>G (p.Y218C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851083" "0" "30" "6" "135811814" "135811814" "subst" "0.000963375" "02326" "AHI1_000244" "g.135811814G>A" "" "" "" "AHI1(NM_017651.4):c.82C>T (p.R28C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851084" "0" "30" "6" "135811824" "135811824" "subst" "0.000321258" "01943" "AHI1_000108" "g.135811824A>G" "" "" "" "AHI1(NM_001134831.2):c.72T>C (p.S24=), AHI1(NM_001350503.1):c.72T>C (p.S24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860173" "0" "30" "6" "135611614" "135611614" "subst" "0.00029546" "02326" "AHI1_000233" "g.135611614C>A" "" "" "" "AHI1(NM_017651.4):c.3535G>T (p.D1179Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860174" "0" "50" "6" "135639665" "135639665" "subst" "0.000425738" "02330" "AHI1_000234" "g.135639665G>A" "" "" "" "AHI1(NM_001350503.2):c.3418C>T (p.P1140S), AHI1(NM_017651.4):c.3418C>T (p.P1140S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860175" "0" "30" "6" "135715984" "135715984" "subst" "0.000455855" "02326" "AHI1_000026" "g.135715984C>T" "" "" "" "AHI1(NM_001134831.2):c.3039G>A (p.Q1013=), AHI1(NM_017651.4):c.3039G>A (p.Q1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860176" "0" "30" "6" "135732531" "135732531" "subst" "0.00117117" "02326" "AHI1_000235" "g.135732531A>C" "" "" "" "AHI1(NM_017651.4):c.2916T>G (p.S972=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860177" "0" "50" "6" "135751148" "135751148" "subst" "0" "02330" "AHI1_000239" "g.135751148T>C" "" "" "" "AHI1(NM_001350503.2):c.2374-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860178" "0" "30" "6" "135768231" "135768231" "subst" "7.32631E-5" "02326" "AHI1_000113" "g.135768231C>T" "" "" "" "AHI1(NM_001134831.2):c.1694G>A (p.R565H), AHI1(NM_001350503.1):c.1694G>A (p.R565H), AHI1(NM_017651.4):c.1694G>A (p.R565H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860179" "0" "30" "6" "135778861" "135778861" "subst" "0.00123535" "02326" "AHI1_000241" "g.135778861T>C" "" "" "" "AHI1(NM_001350503.2):c.932-10A>G, AHI1(NM_017651.4):c.932-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860180" "0" "30" "6" "135787048" "135787048" "subst" "0.000479329" "02326" "AHI1_000123" "g.135787048T>C" "" "" "" "AHI1(NM_001350503.1):c.653A>G (p.Y218C), AHI1(NM_017651.4):c.653A>G (p.Y218C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860181" "0" "30" "6" "135788730" "135788730" "subst" "0.000803105" "02326" "AHI1_000243" "g.135788730T>C" "" "" "" "AHI1(NM_001350503.2):c.178A>G (p.T60A), AHI1(NM_017651.4):c.178A>G (p.T60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887046" "0" "30" "6" "135621627" "135621629" "del" "0" "02326" "AHI1_000019" "g.135621627_135621629del" "" "" "" "AHI1(NM_001134831.2):c.3485+13_3485+15delTTC, AHI1(NM_017651.4):c.3485+13_3485+15delTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887047" "0" "10" "6" "135749885" "135749885" "subst" "0.00374786" "02326" "AHI1_000080" "g.135749885C>T" "" "" "" "AHI1(NM_001134831.1):c.2505G>A (p.R835=), AHI1(NM_001134831.2):c.2505G>A (p.R835=), AHI1(NM_017651.4):c.2505G>A (p.R835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887048" "0" "70" "6" "135751139" "135751139" "subst" "0" "02327" "AHI1_000245" "g.135751139C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000887049" "0" "30" "6" "135751146" "135751146" "subst" "6.7908E-5" "02330" "AHI1_000246" "g.135751146G>A" "" "" "" "AHI1(NM_001350503.2):c.2374-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887050" "0" "30" "6" "135774515" "135774515" "subst" "0.000382097" "02326" "AHI1_000247" "g.135774515T>C" "" "" "" "AHI1(NM_017651.4):c.1404A>G (p.E468=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887051" "0" "30" "6" "135784390" "135784390" "subst" "0.00258703" "02326" "AHI1_000060" "g.135784390T>G" "" "" "" "AHI1(NM_001134831.1):c.804A>C (p.S268=), AHI1(NM_017651.4):c.804A>C (p.S268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905974" "0" "50" "6" "135763740" "135763740" "subst" "2.08765E-5" "00000" "AHI1_000248" "g.135763740C>T" "" "{PMID:Zhu 2022:35456422}" "" "AHI1 c.1892G>A, p.(Arg631Gln)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.135442602C>T" "" "VUS" "ACMG" "0000908859" "1" "70" "6" "135751015" "135751015" "subst" "0" "00006" "AHI1_000249" "g.135751015C>T" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice donor" "Germline" "" "" "0" "" "" "g.135429877C>T" "" "pathogenic (recessive)" "" "0000908928" "2" "90" "6" "135778732" "135778732" "subst" "0" "00006" "AHI1_000118" "g.135778732G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.135457594G>A" "" "pathogenic (recessive)" "" "0000909268" "3" "70" "6" "135759561" "135759561" "subst" "0" "01164" "AHI1_000250" "g.135759561G>C" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "-" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000909269" "3" "30" "6" "135768238" "135768238" "subst" "0" "01164" "AHI1_000251" "g.135768238A>G" "" "" "" "" "ACMG: BP2, BP4" "Germline" "-" "" "" "" "" "" "" "likely benign (recessive)" "ACMG" "0000916627" "1" "70" "6" "135787070" "135787071" "del" "0" "04436" "AHI1_000255" "g.135787070_135787071del" "" "{PMID:Panneman 2023:36819107}" "" "c.630_631del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916628" "2" "70" "6" "135749766" "135749766" "subst" "0" "04436" "AHI1_000253" "g.135749766C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2623+1G>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916647" "1" "90" "6" "135778631" "135778631" "subst" "0" "04436" "AHI1_000254" "g.135778631C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1151+1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916648" "2" "90" "6" "135644432" "135644432" "subst" "4.48222E-5" "04436" "AHI1_000190" "g.135644432G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.3196C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916725" "1" "90" "6" "135754219" "135754219" "subst" "1.62688E-5" "04436" "AHI1_000081" "g.135754219G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2212C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916726" "1" "50" "6" "135732652" "135732652" "subst" "4.23521E-6" "04436" "AHI1_000252" "g.135732652C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2795G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916727" "2" "70" "6" "135726083" "135726083" "subst" "3.67149E-5" "04436" "AHI1_000199" "g.135726083A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2988+6T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000929152" "0" "30" "6" "135786977" "135786977" "subst" "0.000958933" "02326" "AHI1_000061" "g.135786977G>A" "" "" "" "AHI1(NM_001134831.1):c.724C>T (p.P242S), AHI1(NM_001350503.2):c.724C>T (p.P242S), AHI1(NM_017651.4):c.724C>T (p.P242S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948656" "0" "30" "6" "135611570" "135611570" "subst" "0.00137509" "02326" "AHI1_000189" "g.135611570A>G" "" "" "" "AHI1(NM_001350503.2):c.3579T>C (p.T1193=), AHI1(NM_017651.4):c.3579T>C (p.T1193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948657" "0" "30" "6" "135732639" "135732639" "subst" "0.000139772" "02326" "AHI1_000032" "g.135732639T>C" "" "" "" "AHI1(NM_001134831.1):c.2808A>G (p.T936=), AHI1(NM_001134831.2):c.2808A>G (p.T936=), AHI1(NM_017651.4):c.2808A>G (p.T936=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948658" "0" "90" "6" "135784291" "135784291" "dup" "0" "02326" "AHI1_000171" "g.135784291dup" "" "" "" "AHI1(NM_017651.4):c.910dupA (p.T304Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954010" "3" "90" "6" "135754257" "135754257" "subst" "1.62714E-5" "00006" "AHI1_000014" "g.135754257C>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.135433119C>T" "" "pathogenic" "" "0000958936" "0" "50" "6" "135759570" "135759570" "subst" "0" "00006" "AHI1_000173" "g.135759570A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.135438432A>T" "" "VUS" "ACMG" "0000959373" "0" "90" "6" "135644432" "135644432" "subst" "4.48222E-5" "00006" "AHI1_000190" "g.135644432G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.135323294G>A" "" "pathogenic (recessive)" "ACMG" "0000963828" "0" "30" "6" "135611603" "135611603" "subst" "0.000484222" "02330" "AHI1_000256" "g.135611603C>T" "" "" "" "AHI1(NM_001350503.2):c.3546G>A (p.M1182I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963829" "0" "30" "6" "135749801" "135749801" "subst" "0.000840336" "02330" "AHI1_000257" "g.135749801C>T" "" "" "" "AHI1(NM_001350503.2):c.2589G>A (p.E863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963830" "0" "30" "6" "135751006" "135751006" "subst" "0.000293463" "02330" "AHI1_000258" "g.135751006T>C" "" "" "" "AHI1(NM_001350503.2):c.2492+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963832" "0" "50" "6" "135768282" "135768282" "subst" "0.0111283" "02326" "AHI1_000050" "g.135768282C>T" "" "" "" "AHI1(NM_001134830.1):c.1643G>A (p.(Arg548His)), AHI1(NM_001134831.1):c.1643G>A (p.R548H), AHI1(NM_001134831.2):c.1643G>A (p.R548H), AHI1(NM_001350...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963835" "0" "50" "6" "135813364" "135813364" "subst" "0" "02325" "AHI1_000259" "g.135813364A>G" "" "" "" "AHI1(NM_017651.5):c.10+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976997" "0" "30" "6" "135763841" "135763841" "subst" "0.000752142" "02326" "AHI1_000046" "g.135763841G>A" "" "" "" "AHI1(NM_001134831.1):c.1791C>T (p.I597=), AHI1(NM_001134831.2):c.1791C>T (p.I597=), AHI1(NM_017651.4):c.1791C>T (p.I597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995346" "0" "70" "6" "135777066" "135777066" "del" "0" "01804" "AHI1_000193" "g.135777066del" "" "" "" "AHI1(NM_001134831.1):c.1152-2delA (p.?), AHI1(NM_001350503.1):c.1152-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014176" "0" "30" "6" "135778861" "135778861" "subst" "0.00123535" "02330" "AHI1_000241" "g.135778861T>C" "" "" "" "AHI1(NM_001350503.2):c.932-10A>G, AHI1(NM_017651.4):c.932-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014177" "0" "30" "6" "135788730" "135788730" "subst" "0.000803105" "02330" "AHI1_000243" "g.135788730T>C" "" "" "" "AHI1(NM_001350503.2):c.178A>G (p.T60A), AHI1(NM_017651.4):c.178A>G (p.T60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025172" "0" "50" "6" "135732649" "135732649" "subst" "0.00398903" "01943" "AHI1_000033" "g.135732649T>C" "" "" "" "AHI1(NM_001134831.1):c.2798A>G (p.Y933C), AHI1(NM_001134831.2):c.2798A>G (p.Y933C), AHI1(NM_017651.4):c.2798A>G (p.Y933C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030869" "3" "70" "6" "135787499" "135787499" "subst" "0" "00006" "AHI1_000065" "g.135787499T>C" "" "{PMID:Desgrouas 2025:40011009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135466361T>C" "" "VUS" "ACMG" "0001030875" "3" "70" "6" "135787499" "135787499" "subst" "0" "00006" "AHI1_000065" "g.135787499T>C" "" "{PMID:Desgrouas 2025:40011009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135466361T>C" "" "VUS" "ACMG" "0001035490" "0" "50" "6" "135644432" "135644432" "subst" "4.48222E-5" "01804" "AHI1_000190" "g.135644432G>A" "" "" "" "AHI1(NM_001134831.2):c.3196C>T (p.(Arg1066Ter)), AHI1(NM_001350503.2):c.3196C>T (p.R1066*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035491" "0" "50" "6" "135774498" "135774498" "subst" "0" "01804" "AHI1_000262" "g.135774498A>G" "" "" "" "AHI1(NM_001134831.2):c.1421T>C (p.(Ile474Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044577" "1" "90" "6" "135769554" "135769554" "subst" "0" "00006" "AHI1_000260" "g.135769554G>C" "" "{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}" "" "" "" "Germline" "" "" "0" "" "" "g.135448416G>C" "" "pathogenic (recessive)" "" "0001044586" "11" "90" "6" "135784284" "135784284" "dup" "0" "00006" "AHI1_000171" "g.135784284dup" "" "{PMID:Zhang 2022:35958498}" "" "910dupA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0001044587" "21" "90" "6" "135751004" "135754395" "del" "0" "00006" "AHI1_000261" "g.(135749898_135751004)_(135754395_135759512)del" "" "{PMID:Zhang 2022:35958498}" "" "chr6 135751004-135754394del" "" "Germline" "" "" "0" "" "" "g.(135428760_135429866)_(135433257_135438374)del" "" "pathogenic (recessive)" "" "0001044588" "2" "70" "6" "135751004" "135754395" "del" "0" "00006" "AHI1_000261" "g.(135749898_135751004)_(135754395_135759512)del" "" "{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}" "" "del ex18-20" "" "Germline" "" "" "0" "" "" "g.(135428760_135429866)_(135433257_135438374)del" "" "likely pathogenic (recessive)" "" ## 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 AHI1 ## Count = 866 "{{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}}" "0000001093" "00025414" "00" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000001093" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000001094" "00025414" "00" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000001094" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000001095" "00025414" "00" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000001095" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000001096" "00025414" "00" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000001096" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000001097" "00025414" "00" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000001097" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000001098" "00025414" "00" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000001098" "00024006" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "25" "0000001099" "00025414" "00" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000001099" "00024006" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "25" "0000001100" "00025414" "00" "2950" "0" "2950" "0" "c.2950G>T" "r.(?)" "p.(Glu984*)" "" "0000001100" "00024006" "90" "2950" "0" "2950" "0" "c.2950G>T" "r.(?)" "p.(Glu984*)" "21" "0000001101" "00025414" "00" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asp330Gly)" "" "0000001101" "00024006" "50" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asp330Gly)" "9" "0000052242" "00024006" "70" "2248" "0" "2249" "0" "c.2248_2249insA" "r.(?)" "p.(Leu750Hisfs*4)" "16" "0000052243" "00024006" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329*)" "9" "0000052244" "00024006" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "10" "0000052245" "00024006" "70" "911" "0" "912" "0" "c.911_912dup" "r.(?)" "p.(Lys305Glnfs*23)" "8" "0000052246" "00024006" "70" "911" "0" "912" "0" "c.911_912dup" "r.(?)" "p.(Lys305Glnfs*23)" "8" "0000052247" "00024006" "70" "2057" "0" "2060" "0" "c.2057_2060del" "r.(?)" "p.(Asn686Ilefs*23)" "16" "0000052248" "00024006" "70" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "25" "0000059087" "00024006" "10" "2961" "7" "2961" "21" "c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA" "r.(spl?)" "p.(?)" "21i" "0000059088" "00024006" "10" "2961" "7" "2961" "21" "c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA" "r.(spl?)" "p.(?)" "21i" "0000059089" "00024006" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "10" "0000059090" "00024006" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "10" "0000086039" "00024006" "90" "1983" "0" "1983" "0" "c.1983del" "r.(?)" "p.(Trp662Glyfs*24)" "15" "0000086040" "00024006" "90" "2495" "0" "2495" "0" "c.2495del" "r.(?)" "p.(Leu832*)" "19" "0000129976" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "16" "0000129977" "00024006" "70" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "16" "0000246456" "00025414" "10" "1686" "0" "1686" "0" "c.1686T>C" "r.(?)" "p.(His562=)" "" "0000246456" "00024006" "10" "1686" "0" "1686" "0" "c.1686T>C" "r.(?)" "p.(His562=)" "" "0000246494" "00025414" "10" "2961" "15" "2961" "15" "c.2961+15T>A" "r.(=)" "p.(=)" "" "0000246494" "00024006" "10" "2961" "15" "2961" "15" "c.2961+15T>A" "r.(=)" "p.(=)" "" "0000250688" "00025414" "10" "2223" "0" "2223" "0" "c.2223T>C" "r.(?)" "p.(Asp741=)" "" "0000250688" "00024006" "10" "2223" "0" "2223" "0" "c.2223T>C" "r.(?)" "p.(Asp741=)" "" "0000251374" "00025414" "10" "1627" "-92" "1627" "-92" "c.1627-92T>A" "r.(=)" "p.(=)" "" "0000251374" "00024006" "10" "1627" "-92" "1627" "-92" "c.1627-92T>A" "r.(=)" "p.(=)" "" "0000253040" "00025414" "10" "2223" "0" "2223" "0" "c.2223T>C" "r.(?)" "p.(Asp741=)" "" "0000253040" "00024006" "10" "2223" "0" "2223" "0" "c.2223T>C" "r.(?)" "p.(Asp741=)" "" "0000254312" "00025414" "30" "1405" "0" "1405" "0" "c.1405T>C" "r.(?)" "p.(Cys469Arg)" "" "0000254312" "00024006" "30" "1405" "0" "1405" "0" "c.1405T>C" "r.(?)" "p.(Cys469Arg)" "" "0000254333" "00025414" "30" "990" "0" "990" "0" "c.990T>C" "r.(?)" "p.(Asp330=)" "" "0000254333" "00024006" "30" "990" "0" "990" "0" "c.990T>C" "r.(?)" "p.(Asp330=)" "" "0000257434" "00025414" "10" "1680" "0" "1680" "0" "c.1680A>G" "r.(?)" "p.(Pro560=)" "" "0000257434" "00024006" "10" "1680" "0" "1680" "0" "c.1680A>G" "r.(?)" "p.(Pro560=)" "" "0000257435" "00025414" "10" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000257435" "00024006" "10" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000257436" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000257436" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000257437" "00025414" "10" "2266" "9" "2266" "9" "c.2266+9G>A" "r.(=)" "p.(=)" "" "0000257437" "00024006" "10" "2266" "9" "2266" "9" "c.2266+9G>A" "r.(=)" "p.(=)" "" "0000257438" "00025414" "10" "2374" "-7" "2374" "-7" "c.2374-7A>G" "r.(=)" "p.(=)" "" "0000257438" "00024006" "10" "2374" "-7" "2374" "-7" "c.2374-7A>G" "r.(=)" "p.(=)" "" "0000257439" "00025414" "10" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Arg835=)" "" "0000257439" "00024006" "10" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Arg835=)" "" "0000257440" "00025414" "10" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0000257440" "00024006" "10" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0000257441" "00025414" "10" "2808" "0" "2808" "0" "c.2808A>G" "r.(?)" "p.(Thr936=)" "" "0000257441" "00024006" "10" "2808" "0" "2808" "0" "c.2808A>G" "r.(?)" "p.(Thr936=)" "" "0000257442" "00025414" "50" "2945" "0" "2945" "0" "c.2945G>T" "r.(?)" "p.(Arg982Met)" "" "0000257442" "00024006" "50" "2945" "0" "2945" "0" "c.2945G>T" "r.(?)" "p.(Arg982Met)" "" "0000257443" "00025414" "10" "2961" "16" "2961" "17" "c.2961+16_2961+17del" "r.(=)" "p.(=)" "" "0000257443" "00024006" "10" "2961" "16" "2961" "17" "c.2961+16_2961+17del" "r.(=)" "p.(=)" "" "0000257446" "00025414" "10" "2961" "9" "2961" "9" "c.2961+9del" "r.(=)" "p.(=)" "" "0000257446" "00024006" "10" "2961" "9" "2961" "9" "c.2961+9del" "r.(=)" "p.(=)" "" "0000257447" "00025414" "10" "3039" "0" "3039" "0" "c.3039G>A" "r.(?)" "p.(Gln1013=)" "" "0000257447" "00024006" "10" "3039" "0" "3039" "0" "c.3039G>A" "r.(?)" "p.(Gln1013=)" "" "0000257448" "00025414" "10" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Thr1055Met)" "" "0000257448" "00024006" "10" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Thr1055Met)" "" "0000257449" "00025414" "10" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000257449" "00024006" "10" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000257450" "00025414" "50" "3426" "3" "3426" "3" "c.3426+3A>T" "r.spl?" "p.?" "" "0000257450" "00024006" "50" "3426" "3" "3426" "3" "c.3426+3A>T" "r.spl?" "p.?" "" "0000257451" "00025414" "10" "3485" "13" "3485" "15" "c.3485+13_3485+15del" "r.(=)" "p.(=)" "" "0000257451" "00024006" "10" "3485" "13" "3485" "15" "c.3485+13_3485+15del" "r.(=)" "p.(=)" "" "0000257452" "00025414" "10" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000257452" "00024006" "10" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000257453" "00025414" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000257453" "00024006" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000259001" "00025414" "10" "1780" "-14" "1780" "-14" "c.1780-14C>T" "r.(=)" "p.(=)" "" "0000259001" "00024006" "10" "1780" "-14" "1780" "-14" "c.1780-14C>T" "r.(=)" "p.(=)" "" "0000259002" "00025414" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000259002" "00024006" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000259316" "00025414" "30" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000259316" "00024006" "30" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000259442" "00025414" "30" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Cys)" "" "0000259442" "00024006" "30" "2794" "0" "2794" "0" "c.2794C>T" "r.(?)" "p.(Arg932Cys)" "" "0000260672" "00025414" "50" "-30" "0" "-30" "0" "c.-30C>A" "r.(?)" "p.(=)" "" "0000260672" "00024006" "50" "-30" "0" "-30" "0" "c.-30C>A" "r.(?)" "p.(=)" "" "0000260673" "00025414" "10" "3619" "0" "3619" "0" "c.*28G>C" "r.(=)" "p.(=)" "" "0000260673" "00024006" "10" "3619" "0" "3619" "0" "c.*28G>C" "r.(=)" "p.(=)" "" "0000260674" "00025414" "10" "2037" "-109" "2037" "-109" "c.2037-109G>A" "r.(=)" "p.(=)" "" "0000260674" "00024006" "10" "2037" "-109" "2037" "-109" "c.2037-109G>A" "r.(=)" "p.(=)" "" "0000260675" "00025414" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000260675" "00024006" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000260676" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000260676" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000260677" "00025414" "10" "2266" "152" "2266" "152" "c.2266+152A>G" "r.(=)" "p.(=)" "" "0000260677" "00024006" "10" "2266" "152" "2266" "152" "c.2266+152A>G" "r.(=)" "p.(=)" "" "0000260678" "00025414" "10" "2624" "-6" "2624" "-6" "c.2624-6A>G" "r.(=)" "p.(=)" "" "0000260678" "00024006" "10" "2624" "-6" "2624" "-6" "c.2624-6A>G" "r.(=)" "p.(=)" "" "0000260679" "00025414" "30" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0000260679" "00024006" "30" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0000260680" "00025414" "10" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0000260680" "00024006" "10" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0000260681" "00025414" "10" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Ser1005=)" "" "0000260681" "00024006" "10" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Ser1005=)" "" "0000260682" "00025414" "10" "3053" "0" "3053" "0" "c.3053A>C" "r.(?)" "p.(Gln1018Pro)" "" "0000260682" "00024006" "10" "3053" "0" "3053" "0" "c.3053A>C" "r.(?)" "p.(Gln1018Pro)" "" "0000260683" "00025414" "70" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Gly1099Asp)" "" "0000260683" "00024006" "70" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Gly1099Asp)" "" "0000260684" "00025414" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000260684" "00024006" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000260685" "00025414" "50" "3488" "0" "3488" "0" "c.3488C>T" "r.(?)" "p.(Ser1163Phe)" "" "0000260685" "00024006" "50" "3488" "0" "3488" "0" "c.3488C>T" "r.(?)" "p.(Ser1163Phe)" "" "0000260686" "00025414" "10" "3589" "-209" "3589" "-209" "c.3589-209G>A" "r.(=)" "p.(=)" "" "0000260686" "00024006" "10" "3589" "-209" "3589" "-209" "c.3589-209G>A" "r.(=)" "p.(=)" "" "0000260687" "00025414" "10" "901" "0" "901" "0" "c.901C>A" "r.(?)" "p.(Pro301Thr)" "" "0000260687" "00024006" "10" "901" "0" "901" "0" "c.901C>A" "r.(?)" "p.(Pro301Thr)" "" "0000262093" "00025414" "30" "-54" "-6" "-54" "-6" "c.-54-6C>T" "r.(=)" "p.(=)" "" "0000262093" "00024006" "30" "-54" "-6" "-54" "-6" "c.-54-6C>T" "r.(=)" "p.(=)" "" "0000262094" "00025414" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Asp382Gly)" "" "0000262094" "00024006" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Asp382Gly)" "" "0000262095" "00025414" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Val532Ile)" "" "0000262095" "00024006" "50" "1594" "0" "1594" "0" "c.1594G>A" "r.(?)" "p.(Val532Ile)" "" "0000262096" "00025414" "30" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000262096" "00024006" "30" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000262097" "00025414" "10" "1780" "-14" "1780" "-14" "c.1780-14C>T" "r.(=)" "p.(=)" "" "0000262097" "00024006" "10" "1780" "-14" "1780" "-14" "c.1780-14C>T" "r.(=)" "p.(=)" "" "0000262098" "00025414" "10" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000262098" "00024006" "10" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000262099" "00025414" "50" "190" "0" "190" "0" "c.190C>A" "r.(?)" "p.(Pro64Thr)" "" "0000262099" "00024006" "50" "190" "0" "190" "0" "c.190C>A" "r.(?)" "p.(Pro64Thr)" "" "0000262100" "00025414" "50" "2266" "0" "2266" "0" "c.2266G>T" "r.(?)" "p.(Gly756Cys)" "" "0000262100" "00024006" "50" "2266" "0" "2266" "0" "c.2266G>T" "r.(?)" "p.(Gly756Cys)" "" "0000262101" "00025414" "30" "2350" "0" "2350" "0" "c.2350G>T" "r.(?)" "p.(Val784Leu)" "" "0000262101" "00024006" "30" "2350" "0" "2350" "0" "c.2350G>T" "r.(?)" "p.(Val784Leu)" "" "0000262102" "00025414" "30" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Arg835=)" "" "0000262102" "00024006" "30" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Arg835=)" "" "0000262103" "00025414" "30" "2624" "-6" "2624" "-6" "c.2624-6A>G" "r.(=)" "p.(=)" "" "0000262103" "00024006" "30" "2624" "-6" "2624" "-6" "c.2624-6A>G" "r.(=)" "p.(=)" "" "0000262104" "00025414" "30" "2808" "0" "2808" "0" "c.2808A>G" "r.(?)" "p.(Thr936=)" "" "0000262104" "00024006" "30" "2808" "0" "2808" "0" "c.2808A>G" "r.(?)" "p.(Thr936=)" "" "0000262105" "00025414" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Ser1005=)" "" "0000262105" "00024006" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(?)" "p.(Ser1005=)" "" "0000262106" "00025414" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000262106" "00024006" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000262107" "00025414" "50" "553" "0" "553" "0" "c.553G>T" "r.(?)" "p.(Asp185Tyr)" "" "0000262107" "00024006" "50" "553" "0" "553" "0" "c.553G>T" "r.(?)" "p.(Asp185Tyr)" "" "0000262108" "00025414" "10" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000262108" "00024006" "10" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000262109" "00025414" "30" "804" "0" "804" "0" "c.804A>C" "r.(?)" "p.(Ser268=)" "" "0000262109" "00024006" "30" "804" "0" "804" "0" "c.804A>C" "r.(?)" "p.(Ser268=)" "" "0000331231" "00025414" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000331231" "00024006" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000331232" "00025414" "30" "2504" "0" "2504" "0" "c.2504G>C" "r.(?)" "p.(Arg835Thr)" "" "0000331232" "00024006" "30" "2504" "0" "2504" "0" "c.2504G>C" "r.(?)" "p.(Arg835Thr)" "" "0000331233" "00025414" "50" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Arg814His)" "" "0000331233" "00024006" "50" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Arg814His)" "" "0000331234" "00025414" "50" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Glu516Lys)" "" "0000331234" "00024006" "50" "1546" "0" "1546" "0" "c.1546G>A" "r.(?)" "p.(Glu516Lys)" "" "0000331236" "00025414" "50" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asp330Gly)" "" "0000331236" "00024006" "50" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asp330Gly)" "" "0000331238" "00025414" "30" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0000331238" "00024006" "30" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0000337166" "00025414" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000337166" "00024006" "10" "3426" "13" "3426" "13" "c.3426+13G>A" "r.(=)" "p.(=)" "" "0000337167" "00025414" "10" "2624" "-6" "2624" "-6" "c.2624-6A>G" "r.(=)" "p.(=)" "" "0000337167" "00024006" "10" "2624" "-6" "2624" "-6" "c.2624-6A>G" "r.(=)" "p.(=)" "" "0000337168" "00025414" "10" "1780" "-14" "1780" "-14" "c.1780-14C>T" "r.(=)" "p.(=)" "" "0000337168" "00024006" "10" "1780" "-14" "1780" "-14" "c.1780-14C>T" "r.(=)" "p.(=)" "" "0000337171" "00025414" "10" "-293" "0" "-293" "0" "c.-293G>T" "r.(?)" "p.(=)" "" "0000337171" "00024006" "10" "-378" "0" "-378" "0" "c.-378G>T" "r.(?)" "p.(=)" "" "0000343401" "00025414" "10" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000343401" "00024006" "10" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000344186" "00025414" "70" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "" "0000344186" "00024006" "70" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "" "0000347666" "00025414" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000347666" "00024006" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000349847" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000349847" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000358164" "00024006" "90" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011*)" "22" "0000358411" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "15" "0000487542" "00025414" "70" "2029" "0" "2029" "0" "c.2029A>C" "r.(?)" "p.(Thr677Pro)" "14" "0000527249" "00025414" "50" "3584" "0" "3584" "0" "c.3584T>C" "r.(?)" "p.(Ile1195Thr)" "" "0000527249" "00024006" "50" "3584" "0" "3584" "0" "c.3584T>C" "r.(?)" "p.(Ile1195Thr)" "" "0000527250" "00025414" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527250" "00024006" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527251" "00025414" "50" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527251" "00024006" "50" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527252" "00025414" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527252" "00024006" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527253" "00025414" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527253" "00024006" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527254" "00025414" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527254" "00024006" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000527255" "00025414" "30" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Glu1118Lys)" "" "0000527255" "00024006" "30" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Glu1118Lys)" "" "0000527256" "00025414" "50" "3220" "0" "3220" "0" "c.3220C>T" "r.(?)" "p.(Arg1074Cys)" "" "0000527256" "00024006" "50" "3220" "0" "3220" "0" "c.3220C>T" "r.(?)" "p.(Arg1074Cys)" "" "0000527258" "00025414" "90" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011Ter)" "" "0000527258" "00024006" "90" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011Ter)" "" "0000527259" "00025414" "30" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0000527259" "00024006" "30" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0000527260" "00025414" "10" "2961" "21" "2961" "22" "c.2961+21_2961+22insTTAAA" "r.(=)" "p.(=)" "" "0000527260" "00024006" "10" "2961" "21" "2961" "22" "c.2961+21_2961+22insTTAAA" "r.(=)" "p.(=)" "" "0000527262" "00025414" "10" "2961" "6" "2961" "7" "c.2961+6_2961+7insGAC" "r.(=)" "p.(=)" "" "0000527262" "00024006" "10" "2961" "6" "2961" "7" "c.2961+6_2961+7insGAC" "r.(=)" "p.(=)" "" "0000527265" "00025414" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000527265" "00024006" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000527266" "00025414" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000527266" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000527267" "00025414" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000527267" "00024006" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000527268" "00025414" "10" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000527268" "00024006" "10" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000527269" "00025414" "30" "2294" "0" "2294" "0" "c.2294C>T" "r.(?)" "p.(Thr765Ile)" "" "0000527269" "00024006" "30" "2294" "0" "2294" "0" "c.2294C>T" "r.(?)" "p.(Thr765Ile)" "" "0000527270" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000527270" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000527271" "00025414" "10" "2036" "96" "2036" "96" "c.2036+96G>A" "r.(=)" "p.(=)" "" "0000527271" "00024006" "10" "2036" "96" "2036" "96" "c.2036+96G>A" "r.(=)" "p.(=)" "" "0000527272" "00025414" "50" "1829" "0" "1829" "0" "c.1829G>A" "r.(?)" "p.(Arg610Gln)" "" "0000527272" "00024006" "50" "1829" "0" "1829" "0" "c.1829G>A" "r.(?)" "p.(Arg610Gln)" "" "0000527273" "00025414" "50" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Lys600Arg)" "" "0000527273" "00024006" "50" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Lys600Arg)" "" "0000527274" "00025414" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Arg596=)" "" "0000527274" "00024006" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Arg596=)" "" "0000527275" "00025414" "30" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Glu575=)" "" "0000527275" "00024006" "30" "1725" "0" "1725" "0" "c.1725A>G" "r.(?)" "p.(Glu575=)" "" "0000527276" "00025414" "30" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000527276" "00024006" "30" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000527277" "00025414" "10" "1627" "-9" "1627" "-9" "c.1627-9C>G" "r.(=)" "p.(=)" "" "0000527277" "00024006" "10" "1627" "-9" "1627" "-9" "c.1627-9C>G" "r.(=)" "p.(=)" "" "0000527278" "00025414" "10" "1344" "17" "1344" "54" "c.1344+17_1344+54del" "r.(=)" "p.(=)" "" "0000527278" "00024006" "10" "1344" "17" "1344" "54" "c.1344+17_1344+54del" "r.(=)" "p.(=)" "" "0000527279" "00025414" "30" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0000527279" "00024006" "30" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Arg435Gln)" "" "0000527280" "00025414" "50" "1093" "0" "1093" "0" "c.1093A>C" "r.(?)" "p.(Met365Leu)" "" "0000527280" "00024006" "50" "1093" "0" "1093" "0" "c.1093A>C" "r.(?)" "p.(Met365Leu)" "" "0000527281" "00025414" "30" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Arg329Leu)" "" "0000527281" "00024006" "30" "986" "0" "986" "0" "c.986G>T" "r.(?)" "p.(Arg329Leu)" "" "0000527282" "00025414" "10" "932" "-13" "932" "-13" "c.932-13dup" "r.(=)" "p.(=)" "" "0000527282" "00024006" "10" "932" "-13" "932" "-13" "c.932-13dup" "r.(=)" "p.(=)" "" "0000527283" "00025414" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Glu290Lys)" "" "0000527283" "00024006" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Glu290Lys)" "" "0000527285" "00025414" "10" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000527285" "00024006" "10" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Ala173Thr)" "" "0000527286" "00025414" "10" "198" "0" "198" "0" "c.198T>C" "r.(?)" "p.(Thr66=)" "" "0000527286" "00024006" "10" "198" "0" "198" "0" "c.198T>C" "r.(?)" "p.(Thr66=)" "" "0000527287" "00025414" "90" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Leu33ThrfsTer9)" "" "0000527287" "00024006" "90" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Leu33ThrfsTer9)" "" "0000527288" "00025414" "10" "72" "0" "72" "0" "c.72T>C" "r.(?)" "p.(Ser24=)" "" "0000527288" "00024006" "10" "72" "0" "72" "0" "c.72T>C" "r.(?)" "p.(Ser24=)" "" "0000604349" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "16" "0000610036" "00025414" "30" "3604" "0" "3604" "0" "c.*13A>G" "r.(=)" "p.(=)" "" "0000610036" "00024006" "30" "3604" "0" "3604" "0" "c.*13A>G" "r.(=)" "p.(=)" "" "0000610037" "00025414" "30" "3427" "-8" "3427" "-6" "c.3427-8_3427-6del" "r.(=)" "p.(=)" "" "0000610037" "00024006" "30" "3427" "-8" "3427" "-6" "c.3427-8_3427-6del" "r.(=)" "p.(=)" "" "0000610038" "00025414" "30" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0000610038" "00024006" "30" "2972" "0" "2972" "0" "c.2972G>A" "r.(?)" "p.(Arg991His)" "" "0000610039" "00025414" "30" "2373" "18" "2373" "18" "c.2373+18A>G" "r.(=)" "p.(=)" "" "0000610039" "00024006" "30" "2373" "18" "2373" "18" "c.2373+18A>G" "r.(=)" "p.(=)" "" "0000610040" "00025414" "50" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565His)" "" "0000610040" "00024006" "50" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565His)" "" "0000610041" "00025414" "10" "1152" "-7" "1152" "-7" "c.1152-7dup" "r.(=)" "p.(=)" "" "0000610041" "00024006" "10" "1152" "-7" "1152" "-7" "c.1152-7dup" "r.(=)" "p.(=)" "" "0000610042" "00025414" "30" "990" "0" "990" "0" "c.990T>C" "r.(?)" "p.(Asp330=)" "" "0000610042" "00024006" "30" "990" "0" "990" "0" "c.990T>C" "r.(?)" "p.(Asp330=)" "" "0000610043" "00025414" "30" "189" "12" "189" "12" "c.189+12T>C" "r.(=)" "p.(=)" "" "0000610043" "00024006" "30" "189" "12" "189" "12" "c.189+12T>C" "r.(=)" "p.(=)" "" "0000610044" "00025414" "30" "108" "0" "108" "0" "c.108A>G" "r.(?)" "p.(Lys36=)" "" "0000610044" "00024006" "30" "108" "0" "108" "0" "c.108A>G" "r.(?)" "p.(Lys36=)" "" "0000621639" "00025414" "30" "3033" "0" "3033" "0" "c.3033A>G" "r.(?)" "p.(Ser1011=)" "" "0000621639" "00024006" "30" "3033" "0" "3033" "0" "c.3033A>G" "r.(?)" "p.(Ser1011=)" "" "0000621640" "00025414" "30" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(Lys236=)" "" "0000621640" "00024006" "30" "708" "0" "708" "0" "c.708A>G" "r.(?)" "p.(Lys236=)" "" "0000624891" "00024006" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "" "0000651842" "00025414" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(=)" "p.(=)" "" "0000651842" "00024006" "30" "3015" "0" "3015" "0" "c.3015A>G" "r.(=)" "p.(=)" "" "0000651843" "00025414" "50" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0000651843" "00024006" "50" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0000651844" "00025414" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000651844" "00024006" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000651845" "00024006" "10" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000651846" "00025414" "90" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Arg351Leu)" "" "0000651846" "00024006" "90" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Arg351Leu)" "" "0000655486" "00025414" "10" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000655486" "00024006" "10" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000655487" "00025414" "30" "190" "-9" "190" "-9" "c.190-9T>C" "r.(=)" "p.(=)" "" "0000655487" "00024006" "30" "190" "-9" "190" "-9" "c.190-9T>C" "r.(=)" "p.(=)" "" "0000663581" "00024006" "50" "2961" "7" "2961" "21" "c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA" "r.spl?" "p.(?)" "" "0000677629" "00025414" "50" "3485" "6" "3485" "6" "c.3485+6C>T" "r.(=)" "p.(=)" "" "0000677629" "00024006" "50" "3485" "6" "3485" "6" "c.3485+6C>T" "r.(=)" "p.(=)" "" "0000677630" "00025414" "50" "3109" "6743" "3109" "6746" "c.3109+6743_3109+6746del" "r.(=)" "p.(=)" "" "0000677630" "00024006" "50" "3109" "6743" "3109" "6746" "c.3109+6743_3109+6746del" "r.(=)" "p.(=)" "" "0000677631" "00025414" "30" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565His)" "" "0000677631" "00024006" "30" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565His)" "" "0000677632" "00025414" "90" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Leu33ThrfsTer9)" "" "0000677632" "00024006" "90" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Leu33ThrfsTer9)" "" "0000684760" "00025414" "30" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000684760" "00024006" "30" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000684994" "00024006" "90" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011*)" "" "0000684995" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000687716" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000689628" "00025414" "30" "3030" "0" "3030" "0" "c.3030C>T" "r.(?)" "p.(Ser1010=)" "" "0000689628" "00024006" "30" "3030" "0" "3030" "0" "c.3030C>T" "r.(?)" "p.(Ser1010=)" "" "0000708900" "00024006" "70" "3267" "0" "3267" "0" "c.3267G>A" "r.(?)" "p.(Trp1089*)" "23" "0000708901" "00024006" "70" "1979" "0" "1979" "0" "c.1979T>G" "r.(?)" "p.(Leu660Arg)" "13" "0000710218" "00024006" "90" "1585" "0" "1585" "0" "c.1585del" "r.(?)" "p.(Thr529Hisfs*4)" "" "0000710296" "00024006" "70" "2029" "0" "2029" "0" "c.2029A>C" "r.(?)" "p.(Thr677Pro)" "" "0000713287" "00025414" "90" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000713287" "00024006" "90" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000713345" "00025414" "90" "2988" "0" "2988" "0" "c.2988del" "r.(?)" "p.(Val997Serfs*20)" "" "0000713345" "00024006" "90" "2988" "0" "2988" "0" "c.2988del" "r.(?)" "p.(Val997Serfs*20)" "" "0000713698" "00025414" "90" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(His696Arg)" "" "0000713698" "00024006" "90" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(His696Arg)" "" "0000713727" "00025414" "90" "2568" "0" "2569" "0" "c.2568_2569insAG" "r.(?)" "p.(Phe857Serfs*11)" "" "0000713727" "00024006" "90" "2568" "0" "2569" "0" "c.2568_2569insAG" "r.(?)" "p.(Phe857Serfs*11)" "" "0000720680" "00025414" "50" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Glu1168Gly)" "" "0000720680" "00024006" "50" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Glu1168Gly)" "" "0000720681" "00025414" "30" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Thr1055Met)" "" "0000720681" "00024006" "30" "3164" "0" "3164" "0" "c.3164C>T" "r.(?)" "p.(Thr1055Met)" "" "0000720682" "00025414" "70" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011Ter)" "" "0000720682" "00024006" "70" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011Ter)" "" "0000720683" "00025414" "50" "2433" "0" "2433" "0" "c.2433T>G" "r.(?)" "p.(Asn811Lys)" "" "0000720683" "00024006" "50" "2433" "0" "2433" "0" "c.2433T>G" "r.(?)" "p.(Asn811Lys)" "" "0000720684" "00025414" "50" "1906" "0" "1906" "0" "c.1906A>G" "r.(?)" "p.(Ile636Val)" "" "0000720684" "00024006" "50" "1906" "0" "1906" "0" "c.1906A>G" "r.(?)" "p.(Ile636Val)" "" "0000720685" "00025414" "50" "1829" "0" "1829" "0" "c.1829G>A" "r.(?)" "p.(Arg610Gln)" "" "0000720685" "00024006" "50" "1829" "0" "1829" "0" "c.1829G>A" "r.(?)" "p.(Arg610Gln)" "" "0000720686" "00025414" "70" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "0000720686" "00024006" "70" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495His)" "" "0000720687" "00025414" "70" "136" "-2" "136" "-2" "c.136-2A>G" "r.spl?" "p.?" "" "0000720687" "00024006" "70" "136" "-2" "136" "-2" "c.136-2A>G" "r.spl?" "p.?" "" "0000731044" "00024006" "50" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000731045" "00024006" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000731163" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000731182" "00024006" "90" "1205" "0" "1205" "0" "c.1205del" "r.(?)" "p.(Pro402Leufs*3)" "" "0000732664" "00025414" "70" "1912" "5" "1912" "5" "c.1912+5G>T" "r.spl?" "p.?" "" "0000732664" "00024006" "70" "1912" "5" "1912" "5" "c.1912+5G>T" "r.spl?" "p.?" "" "0000732696" "00025414" "70" "2600" "0" "2600" "0" "c.2600T>A" "r.(?)" "p.(Val867Glu)" "" "0000732696" "00024006" "70" "2600" "0" "2600" "0" "c.2600T>A" "r.(?)" "p.(Val867Glu)" "" "0000735586" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000735586" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000735713" "00025414" "90" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "" "0000735713" "00024006" "90" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "" "0000759764" "00024006" "90" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Met)" "" "0000759767" "00024006" "90" "1834" "0" "1834" "0" "c.1834T>C" "r.(?)" "p.(Cys612Arg)" "" "0000759788" "00024006" "90" "841" "0" "841" "0" "c.841G>T" "r.(?)" "p.(Glu281Ter)" "" "0000759790" "00024006" "90" "2278" "0" "2278" "0" "c.2278T>G" "r.(?)" "p.(Tyr760Asp)" "" "0000763177" "00024006" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000765487" "00024006" "70" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Cys)" "" "0000765494" "00024006" "50" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Pro527Leu)" "" "0000765502" "00024006" "50" "1580" "0" "1580" "0" "c.1580C>T" "r.(?)" "p.(Pro527Leu)" "" "0000783316" "00025414" "90" "2036" "1" "2036" "1" "c.2036+1G>T" "r.spl?" "p.?" "" "0000783316" "00024006" "90" "2036" "1" "2036" "1" "c.2036+1G>T" "r.spl?" "p.?" "" "0000783317" "00025414" "90" "2036" "1" "2036" "1" "c.2036+1G>T" "r.spl?" "p.?" "" "0000783317" "00024006" "90" "2036" "1" "2036" "1" "c.2036+1G>T" "r.spl?" "p.?" "" "0000783318" "00025414" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000783318" "00024006" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000783319" "00025414" "90" "2495" "0" "2495" "0" "c.2495T>G" "r.(?)" "p.(Leu832*)" "" "0000783319" "00024006" "90" "2495" "0" "2495" "0" "c.2495T>G" "r.(?)" "p.(Leu832*)" "" "0000783320" "00025414" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000783320" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000783321" "00025414" "90" "1897" "0" "1898" "0" "c.1897_1898dup" "r.(?)" "p.(Tyr634Aspfs*15)" "" "0000783321" "00024006" "90" "1897" "0" "1898" "0" "c.1897_1898dup" "r.(?)" "p.(Tyr634Aspfs*15)" "" "0000783322" "00025414" "90" "1152" "-2" "1152" "-2" "c.1152-2A>G" "r.spl?" "p.?" "" "0000783322" "00024006" "90" "1152" "-2" "1152" "-2" "c.1152-2A>G" "r.spl?" "p.?" "" "0000783323" "00025414" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000783323" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000783324" "00025414" "90" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Thr671Ile)" "" "0000783324" "00024006" "90" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Thr671Ile)" "" "0000783325" "00025414" "90" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Asp372Gly)" "" "0000783325" "00024006" "90" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Asp372Gly)" "" "0000783326" "00025414" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000783326" "00024006" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000783327" "00025414" "90" "2156" "0" "2156" "0" "c.2156A>G" "r.(?)" "p.(Asp719Gly)" "" "0000783327" "00024006" "90" "2156" "0" "2156" "0" "c.2156A>G" "r.(?)" "p.(Asp719Gly)" "" "0000783328" "00025414" "90" "2156" "0" "2156" "0" "c.2156A>G" "r.(?)" "p.(Asp719Gly)" "" "0000783328" "00024006" "90" "2156" "0" "2156" "0" "c.2156A>G" "r.(?)" "p.(Asp719Gly)" "" "0000783329" "00025414" "90" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000783329" "00024006" "90" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000783330" "00025414" "90" "1917" "0" "1917" "0" "c.1917T>A" "r.(?)" "p.(Tyr639*)" "" "0000783330" "00024006" "90" "1917" "0" "1917" "0" "c.1917T>A" "r.(?)" "p.(Tyr639*)" "" "0000783331" "00025414" "90" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "" "0000783331" "00024006" "90" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "" "0000783332" "00025414" "90" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "" "0000783332" "00024006" "90" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "" "0000783333" "00025414" "90" "2097" "0" "2098" "0" "c.2097_2098dup" "r.(?)" "p.(Tyr701Phefs*10)" "" "0000783333" "00024006" "90" "2097" "0" "2098" "0" "c.2097_2098dup" "r.(?)" "p.(Tyr701Phefs*10)" "" "0000783334" "00025414" "90" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "" "0000783334" "00024006" "90" "1516" "0" "1516" "0" "c.1516C>T" "r.(?)" "p.(Arg506*)" "" "0000783335" "00025414" "90" "1626" "1" "1626" "1" "c.1626+1G>A" "r.spl?" "p.?" "" "0000783335" "00024006" "90" "1626" "1" "1626" "1" "c.1626+1G>A" "r.spl?" "p.?" "" "0000783336" "00025414" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783336" "00024006" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783337" "00025414" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783337" "00024006" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783338" "00025414" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783338" "00024006" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783339" "00025414" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Trp725Glyfs*5)" "" "0000783339" "00024006" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Trp725Glyfs*5)" "" "0000783340" "00025414" "90" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Arg351Leu)" "" "0000783340" "00024006" "90" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Arg351Leu)" "" "0000783341" "00025414" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000783341" "00024006" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000783342" "00025414" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000783342" "00024006" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000783343" "00025414" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Trp725Glyfs*5)" "" "0000783343" "00024006" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Trp725Glyfs*5)" "" "0000783344" "00025414" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Trp725Glyfs*5)" "" "0000783344" "00024006" "90" "2172" "0" "2172" "0" "c.2172del" "r.(?)" "p.(Trp725Glyfs*5)" "" "0000783345" "00025414" "90" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Glu)" "" "0000783345" "00024006" "90" "2297" "0" "2297" "0" "c.2297G>A" "r.(?)" "p.(Gly766Glu)" "" "0000783346" "00025414" "90" "2183" "0" "2192" "0" "c.2183_2192del" "r.(?)" "p.(Met729Ilefs*36)" "" "0000783346" "00024006" "90" "2183" "0" "2192" "0" "c.2183_2192del" "r.(?)" "p.(Met729Ilefs*36)" "" "0000783347" "00025414" "90" "1612" "0" "1612" "0" "c.1612del" "r.(?)" "p.(Val539Phefs*5)" "" "0000783347" "00024006" "90" "1612" "0" "1612" "0" "c.1612del" "r.(?)" "p.(Val539Phefs*5)" "" "0000783348" "00025414" "90" "1612" "0" "1612" "0" "c.1612del" "r.(?)" "p.(Val539Phefs*5)" "" "0000783348" "00024006" "90" "1612" "0" "1612" "0" "c.1612del" "r.(?)" "p.(Val539Phefs*5)" "" "0000783349" "00025414" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783349" "00024006" "90" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000783580" "00025414" "70" "1626" "4" "1626" "5" "c.1626+4_1626+5insTTAC" "r.spl?" "p.?" "" "0000783580" "00024006" "70" "1626" "4" "1626" "5" "c.1626+4_1626+5insTTAC" "r.spl?" "p.?" "" "0000783598" "00025414" "90" "736" "0" "736" "0" "c.736A>T" "r.(?)" "p.(Lys246*)" "" "0000783598" "00024006" "90" "736" "0" "736" "0" "c.736A>T" "r.(?)" "p.(Lys246*)" "" "0000783599" "00025414" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000783599" "00024006" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000783600" "00025414" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000783600" "00024006" "90" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000783601" "00025414" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "" "0000783601" "00024006" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "" "0000783602" "00025414" "90" "1976" "0" "1976" "0" "c.1976A>T" "r.(?)" "p.(Asp659Val)" "" "0000783602" "00024006" "90" "1976" "0" "1976" "0" "c.1976A>T" "r.(?)" "p.(Asp659Val)" "" "0000783603" "00025414" "90" "2173" "0" "2173" "0" "c.2173T>C" "r.(?)" "p.(Trp725Arg)" "" "0000783603" "00024006" "90" "2173" "0" "2173" "0" "c.2173T>C" "r.(?)" "p.(Trp725Arg)" "" "0000783604" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000783604" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000783605" "00025414" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Asp675Asn)" "" "0000783605" "00024006" "90" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Asp675Asn)" "" "0000783606" "00025414" "90" "2361" "0" "2361" "0" "c.2361G>T" "r.(?)" "p.(Trp787Cys)" "" "0000783606" "00024006" "90" "2361" "0" "2361" "0" "c.2361G>T" "r.(?)" "p.(Trp787Cys)" "" "0000783607" "00024006" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000783608" "00024006" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000783609" "00025414" "90" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Asp666Val)" "" "0000783609" "00024006" "90" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Asp666Val)" "" "0000783610" "00025414" "90" "2705" "0" "2705" "0" "c.2705T>A" "r.(?)" "p.(Val902Asp)" "" "0000783610" "00024006" "90" "2705" "0" "2705" "0" "c.2705T>A" "r.(?)" "p.(Val902Asp)" "" "0000783611" "00025414" "90" "2705" "0" "2705" "0" "c.2705T>A" "r.(?)" "p.(Val902Asp)" "" "0000783611" "00024006" "90" "2705" "0" "2705" "0" "c.2705T>A" "r.(?)" "p.(Val902Asp)" "" "0000785429" "00024006" "50" "2660" "0" "2660" "0" "c.2660A>G" "r.(?)" "p.(Lys887Arg)" "" "0000785434" "00024006" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000785968" "00024006" "77" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000785987" "00024006" "55" "989" "0" "989" "0" "c.989A>G" "r.(?)" 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"p.(Ser221*)" "" "0000791766" "00024006" "70" "1976" "0" "1976" "0" "c.1976A>T" "r.(?)" "p.(Asp659Val)" "" "0000791767" "00024006" "70" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "8" "0000791768" "00024006" "70" "1115" "0" "1115" "0" "c.1115A>G" "r.(?)" "p.(Asn372Gly)" "" "0000791769" "00024006" "70" "736" "0" "736" "0" "c.736A>T" "r.(?)" "p.(Lys246*)" "" "0000791852" "00024006" "70" "1997" "0" "1997" "0" "c.1997A>T" "r.(?)" "p.(Asn666Val)" "" "0000791853" "00024006" "70" "1583" "0" "1583" "0" "c.1583C>G" "r.(?)" "p.(Ser528*)" "" "0000791854" "00024006" "70" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000791855" "00024006" "70" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Met)" "" "0000791856" "00024006" "70" "2173" "0" "2173" "0" "c.2173T>C" "r.(?)" "p.(Trp725Arg)" "" "0000791857" "00024006" "70" "2495" "0" "2495" "0" "c.2495T>G" "r.(?)" "p.(Leu832*)" "" "0000791986" "00024006" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" 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"p.(Tyr634Aspfs*15)" "14" "0000798454" "00024006" "90" "932" "-2" "932" "-2" "c.932-2A>G" "r.spl?" "p.?" "8i" "0000798455" "00024006" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "10" "0000798456" "00024006" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "10" "0000798457" "00024006" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "10" "0000798458" "00024006" "90" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "10" "0000798459" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "16" "0000798460" "00024006" "90" "1440" "5" "1440" "6" "c.1440+5_1440+6insTTAC" "r.(=)" "p.(=)" "11i" "0000798461" "00024006" "90" "1912" "1" "1912" "1" "c.1912+1G>T" "r.spl?" "p.?" "14i" "0000798462" "00024006" "90" "2156" "0" "2156" "0" "c.2156A>G" "r.(?)" "p.(Asp719Gly)" "16" "0000798463" "00024006" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "18" "0000798464" "00024006" "90" "1917" "0" "1917" "0" "c.1917T>A" "r.(?)" "p.(Tyr639*)" "15" "0000798465" "00024006" "90" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Thr671Ile)" "15" "0000798466" "00024006" "90" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "20" "0000798467" "00024006" "70" "787" "0" "788" "0" "c.787_788insC" "r.(?)" "p.(Gln263Profs*8)" "8" "0000798468" "00024006" "70" "1188" "0" "1889" "0" "c.1188_1889delTG" "r.(?)" "p.?" "10_14" "0000798469" "00024006" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "10" "0000798470" "00024006" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "10" "0000798471" "00024006" "70" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351*)" "9" "0000798472" "00024006" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "10" "0000802320" "00025414" "10" "3579" "0" "3579" "0" "c.3579T>C" "r.(?)" "p.(Thr1193=)" "" "0000802320" "00024006" "10" "3579" "0" "3579" "0" "c.3579T>C" "r.(?)" "p.(Thr1193=)" "" "0000802321" "00025414" "50" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0000802321" "00024006" "50" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0000802322" "00025414" "50" "3109" "6784" "3109" "6784" "c.3109+6784A>G" "r.(=)" "p.(=)" "" "0000802322" "00024006" "50" "3109" "6784" "3109" "6784" "c.3109+6784A>G" "r.(=)" "p.(=)" "" "0000802323" "00025414" "30" "2962" "-3" "2962" "-3" "c.2962-3T>C" "r.spl?" "p.?" "" "0000802323" "00024006" "30" "2962" "-3" "2962" "-3" "c.2962-3T>C" "r.spl?" "p.?" "" "0000802324" "00025414" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "" "0000802324" "00024006" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "" "0000802325" "00025414" "70" "1152" "-2" "1152" "-2" "c.1152-2del" "r.spl?" "p.?" "" "0000802325" "00024006" "70" "1152" "-2" "1152" "-2" "c.1152-2del" "r.spl?" "p.?" "" "0000802326" "00025414" "90" "72" "0" "85" "0" "c.72_85del" "r.(?)" "p.(Ser24Argfs*13)" "" "0000802326" "00024006" "90" "72" "0" "85" "0" "c.72_85del" "r.(?)" "p.(Ser24Argfs*13)" "" "0000811820" "00024006" "70" "3486" "-2" "3486" "-2" "c.3486-2A>T" "r.spl" "p.(?)" "" "0000811821" "00024006" "70" "3486" "-2" "3486" "-2" "c.3486-2A>T" "r.spl" "p.(?)" "" "0000813976" "00024006" "50" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000813991" "00024006" "50" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "13" "0000814021" "00024006" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814022" "00024006" "90" "345" "5" "345" "5" "c.345+5G>A" "r.(?)" "p.?" "7" "0000814029" "00024006" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000814076" "00024006" "70" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "18" "0000814079" "00024006" "50" "3618" "0" "3618" "0" "c.*27C>T" "r.(=)" "p.(=)" "29" "0000817524" "00024006" "70" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" 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"" "0000821151" "00025414" "70" "2569" "0" "2570" "0" "c.2569_2570insAG" "r.(?)" "p.(Phe857*)" "" "0000821151" "00024006" "70" "2569" "0" "2570" "0" "c.2569_2570insAG" "r.(?)" "p.(Phe857*)" "" "0000821465" "00025414" "70" "1912" "1488" "2036" "506" "c.1912+1488_2036+506del" "r.(?)" "p.(Leu638*)" "" "0000821465" "00024006" "70" "0" "0" "0" "0" "c.?" "r.0?" "p.0?" "" "0000821522" "00025414" "70" "2985" "0" "2985" "0" "c.2985del" "r.(?)" "p.(Val997Serfs*20)" "" "0000821522" "00024006" "70" "2988" "0" "2988" "0" "c.2988del" "r.(?)" "p.(Val997Serfs*20)" "" "0000822180" "00024006" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329*)" "9" "0000822181" "00024006" "90" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Trp517*)" "12" "0000822182" "00024006" "90" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329*)" "9" "0000822183" "00024006" "90" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Trp517*)" "12" "0000823455" "00025414" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000823455" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000823456" "00025414" "70" "2741" "0" "2741" "0" "c.2741del" "r.(?)" "p.(Leu915Cysfs*64)" "" "0000823456" "00024006" "70" "2742" "0" "2742" "0" "c.2742del" "r.(?)" "p.(Leu915Cysfs*64)" "" "0000823457" "00025414" "90" "2623" "1" "2623" "1" "c.2623+1G>T" "r.spl?" "p.?" "" "0000823457" "00024006" "90" "2623" "1" "2623" "1" "c.2623+1G>T" "r.spl" "p.(?)" "" "0000823551" "00025414" "90" "1204" "0" "1204" "0" "c.1204del" "r.(?)" "p.(Pro402Leufs*3)" "" "0000823551" "00024006" "90" "1205" "0" "1205" "0" "c.1205del" "r.(?)" "p.(Pro402Leufs*3)" "" "0000823553" "00025414" "50" "1829" "0" "1829" "0" "c.1829G>C" "r.(?)" "p.(Arg610Pro)" "" "0000823553" "00024006" "50" "1829" "0" "1829" "0" "c.1829G>C" "r.(?)" "p.(Arg610Pro)" "" "0000823719" "00025414" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000823719" "00024006" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000823722" "00025414" "90" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011*)" "" "0000823722" "00024006" "90" "3032" "0" "3032" "0" "c.3032C>G" "r.(?)" "p.(Ser1011Ter)" "" "0000824696" "00025414" "50" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000824696" "00024006" "50" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304AsnfsTer6)" "" "0000824784" "00025414" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000824784" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000828531" "00024006" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000828532" "00024006" "50" "1997" "0" "1997" "0" "c.1997A>G" "r.(?)" "p.(Asp666Gly)" "" "0000828538" "00024006" "70" "1913" "-2" "1913" "-2" "c.1913-2A>G" "r.spl" "p.(?)" "" "0000828539" "00025414" "70" "2773" "0" "2773" "0" "c.2773C>T" "" "" "" "0000828539" "00024006" "70" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Gln925*)" "" "0000828558" "00024006" "70" "1780" "-1" "1912" "1" "c.(1779+1_1780-1)_(1912+1_1913-1)del" "r.spl" "p.(?)" "" "0000841165" "00024006" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Arg351Ter)" "" "0000845905" "00025414" "70" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000845905" "00024006" "70" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000847235" "00025414" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Gln263Profs*8)" "" "0000847235" "00024006" "70" "787" "0" "787" "0" "c.787dup" "r.(?)" "p.(Gln263Profs*8)" "8" "0000847236" "00025414" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847236" "00024006" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "10" "0000847237" "00025414" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847237" "00024006" "70" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "10" "0000847238" "00025414" "70" "1188" "0" "1189" "0" "c.1188_1189del" "r.(?)" "p.(Val397Glyfs*12)" "" "0000847238" "00024006" "70" "1190" "0" "1191" "0" "c.1190_1191del" "r.(?)" "p.(Val397Glyfs*12)" "10" "0000847254" "00025414" "70" "2370" "0" "2370" "0" "c.2370dup" "r.(?)" "p.(Lys791*)" "" "0000847254" "00024006" "70" "2369" "0" "2370" "0" "c.2369_2370insT" "r.(?)" "p.(Lys791Ter)" "" "0000847255" "00025414" "70" "2370" "0" "2370" "0" "c.2370dup" "r.(?)" "p.(Lys791*)" "" "0000847255" "00024006" "70" "2369" "0" "2370" "0" "c.2369_2370insT" "r.(?)" "p.(Lys791Ter)" "" "0000847256" "00025414" "70" "358" "0" "681" "0" "c.358_681del" "r.(?)" "p.(Gln122_Lys229del)" "" "0000847256" "00024006" "70" "365" "0" "688" "0" "c.365_688del" "r.(?)" "p.(Gln122_Lys229del)" "" "0000847257" "00025414" "70" "445" "0" "445" "0" "c.445dup" "r.(?)" "p.(Val150Glyfs*2)" "" "0000847257" "00024006" "70" "444" "0" "445" "0" "c.444_445insA" "r.(?)" "p.(Val150GlyfsTer2)" "" "0000847258" "00025414" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "" "0000847258" "00024006" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "25" "0000847259" "00025414" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "" "0000847259" "00024006" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "25" "0000847260" "00025414" "70" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589*)" "" "0000847260" "00024006" "70" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589*)" "13" "0000847261" "00025414" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000847261" "00024006" "70" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "8" "0000847262" "00025414" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000847262" "00024006" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "10" "0000847263" "00025414" "70" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000847263" "00024006" "70" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "16" "0000847264" "00025414" "70" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "" "0000847264" "00024006" "70" "662" "0" "662" "0" "c.662C>G" "r.(?)" "p.(Ser221*)" "7" "0000847265" "00025414" "70" "911" "0" "911" "0" "c.911dup" "r.(?)" "p.(Lys307Glufs*3)" "" "0000847265" "00024006" "70" "911" "0" "911" "0" "c.911dup" "r.(?)" "p.(Lys307Glufs*3)" "8" "0000847266" "00025414" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000847266" "00024006" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "16" "0000847267" "00025414" "70" "1500" "0" "1500" "0" "c.1500C>A" "r.(?)" "p.(Tyr500*)" "" "0000847267" "00024006" "70" "1500" "0" "1500" "0" "c.1500C>A" "r.(?)" "p.(Tyr500*)" "12" "0000847268" "00025414" "70" "1900" "0" "1900" "0" "c.1900dup" "r.(?)" "p.(Tyr634Leufs*7)" "" "0000847268" "00024006" "70" "1900" "0" "1900" "0" "c.1900dup" "r.(?)" "p.(Tyr634Leufs*7)" "14" "0000847269" "00025414" "70" "1912" "1" "1912" "1" "c.1912+1G>A" "r.spl?" "p.?" "" "0000847269" "00024006" "70" "1912" "1" "1912" "1" "c.1912+1G>A" "r.(?)" "p.(?)" "14i" "0000847270" "00025414" "70" "1417" "0" "1417" "0" "c.1417del" "r.(?)" "p.(Ile474Leufs*36)" "" "0000847270" "00024006" "70" "1420" "0" "1420" "0" "c.1420del" "r.(?)" "p.(Ile474Leufs*36)" "11" "0000847271" "00025414" "70" "1626" "1" "1626" "1" "c.1626+1G>A" "r.spl?" "p.?" "" "0000847271" "00024006" "70" "1626" "1" "1626" "1" "c.1626+1G>A" "r.(?)" "p.(?)" "12" "0000847272" "00025414" "70" "1897" "0" "1898" "0" "c.1897_1898dup" "r.(?)" "p.(Tyr634Aspfs*15)" "" "0000847272" "00024006" "70" "1897" "0" "1898" "0" "c.1897_1898dup" "r.(?)" "p.(Tyr634Aspfs*15)" "14" "0000847273" "00025414" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "" "0000847273" "00024006" "70" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Gln423*)" "10" "0000847274" "00025414" "70" "624" "0" "627" "0" "c.624_627dup" "r.(?)" "p.(Leu212Glufs*17)" "" "0000847274" "00024006" "70" "630" "0" "633" "0" "c.630_633dup" "r.(?)" "p.(Leu212Glufs*17)" "7" "0000847275" "00025414" "70" "1828" "0" "1828" "0" "c.1828C>T" "r.(?)" "p.(Arg610*)" "" "0000847275" "00024006" "70" "1828" "0" "1828" "0" "c.1828C>T" "r.(?)" "p.(Arg610*)" "14" "0000847277" "00025414" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329*)" "" "0000847277" "00024006" "70" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329*)" "8" "0000847278" "00025414" "70" "2247" "0" "2247" "0" "c.2247dup" "r.(?)" "p.(Leu750Thrfs*4)" "" "0000847278" "00024006" "70" "2247" "0" "2248" "0" "c.2247_2248insA" "r.(?)" "p.(Leu750Thrfs*4)" "15" "0000847279" "00025414" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000847279" "00024006" "70" "910" "0" "911" "0" "c.910_911insA" "r.(?)" "p.(Thr304Asnfs*6)" "7" "0000847280" "00025414" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "" "0000847280" "00024006" "70" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435*)" "9" "0000847281" "00025414" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000847281" "00024006" "70" "910" "0" "911" "0" "c.910_911insA" "r.(?)" "p.(Thr304Asnfs*6)" "7" "0000847282" "00025414" "70" "2055" "0" "2058" "0" "c.2055_2058del" "r.(?)" "p.(Asn686Ilefs*23)" "" "0000847282" "00024006" "70" "2057" "0" "2060" "0" "c.2057_2060delACAA" "r.(?)" "p.(Asn686Ilefs*23)" "15" "0000847283" "00025414" "30" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000847283" "00024006" "70" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "24" "0000847284" "00025414" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000847284" "00024006" "70" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "17" "0000847285" "00025414" "30" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "" "0000847285" "00024006" "70" "2488" "0" "2488" "0" "c.2488C>T" "r.(?)" "p.(Arg830Trp)" "17" "0000847286" "00024006" "70" "2961" "7" "2961" "7" "c.2961+7del15ins20" "r.(?)" "p.(?)" "20i" "0000847287" "00024006" "70" "2961" "7" "2961" "7" "c.2961+7del15ins20" "r.(?)" "p.(?)" "20i" "0000847288" "00025414" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "" "0000847288" "00024006" "70" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Ser1123Phe)" "25" "0000847304" "00025414" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420*)" "" "0000847304" "00024006" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(?)" "p.(Trp420Ter)" "8" "0000847305" "00025414" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000847305" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738Ter)" "8" "0000847306" "00025414" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847306" "00024006" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "8" "0000847307" "00025414" "90" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Arg351Leu)" "" "0000847307" "00024006" "90" "1052" "0" "1052" "0" "c.1052G>T" "r.(?)" "p.(Arg351Leu)" "8" "0000847308" "00025414" "90" "1152" "-2" "1152" "-2" "c.1152-2A>G" "r.spl?" "p.?" "" "0000847308" "00024006" "90" "1152" "-2" "1152" "-2" "c.1152-2A>G" "r.spl" "p.(?)" "8" "0000847309" "00025414" "90" "1976" "0" "1976" "0" "c.1976A>T" "r.(?)" "p.(Asp659Val)" "" "0000847309" "00024006" "90" "1976" "0" "1976" "0" "c.1976A>T" "r.(?)" "p.(Asp659Val)" "8" "0000847312" "00025414" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847312" "00024006" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847321" "00025414" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847321" "00024006" "90" "1328" "0" "1328" "0" "c.1328T>A" "r.(?)" "p.(Val443Asp)" "" "0000847324" "00025414" "30" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0000847324" "00024006" "70" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "25" "0000847325" "00025414" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "" "0000847325" "00024006" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "25" "0000847326" "00025414" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "" "0000847326" "00024006" "70" "3263" "0" "3264" "0" "c.3263_3264del" "r.(?)" "p.(Trp1088Leufs*16)" "25" "0000847328" "00025414" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000847328" "00024006" "70" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "8" "0000847329" "00025414" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000847329" "00024006" "70" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "8" "0000847330" "00025414" "70" "903" "0" "903" "0" "c.903dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000847330" "00024006" "70" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "8" "0000847331" "00025414" "70" "1981" "0" "1981" "0" "c.1981T>C" "r.(?)" "p.(Ser661Pro)" "" "0000847331" "00024006" "70" "1981" "0" "1981" "0" "c.1981T>C" "r.(?)" "p.(Ser661Pro)" "8" "0000847341" "00025414" "70" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000847341" "00024006" "70" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725*)" "" "0000847342" "00025414" "70" "658" "0" "658" "0" "c.658del" "r.(?)" "p.(Ser221Glnfs*10)" "" "0000847342" "00024006" "70" "660" "0" "660" "0" "c.660delC" "r.(?)" "p.(Ser221Glnfs*10)" "" "0000847343" "00025414" "70" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(His696Arg)" "" "0000847343" "00024006" "70" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(His696Arg)" "" "0000847344" "00025414" "70" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "" "0000847344" "00024006" "70" "2258" "0" "2258" "0" "c.2258A>T" "r.(?)" "p.(Asp753Val)" "" "0000847345" "00025414" "70" "2090" "0" "2090" "0" "c.2090C>T" "r.(?)" "p.(Pro697Leu)" "" "0000847345" "00024006" "70" "2090" "0" "2090" "0" "c.2090C>T" "r.(?)" "p.(Pro697Leu)" "" "0000847346" "00025414" "70" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000847346" "00024006" "70" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Pro810Leu)" "" "0000847350" "00025414" "70" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "" "0000847350" "00024006" "70" "2687" "0" "2687" "0" "c.2687A>G" "r.(?)" "p.(His896Arg)" "20" "0000847496" "00025414" "70" "750" "-101" "1151" "98" "c.750-101_1151+98del" "r.(?)" "p.(Thr251_Ser384del)" "" "0000847496" "00024006" "70" "750" "-100" "1151" "99" "c.750-100_1151+99del" "r.(?)" "p.?" "8" "0000847497" "00025414" "70" "1793" "0" "1796" "0" "c.1793_1796del" "r.(?)" "p.(Lys600Thrfs*5)" "" "0000847497" "00024006" "70" "1799" "0" "1802" "0" "c.1799_1802delAACA" "r.(?)" "p.(Lys600Thrfs*5)" "8" "0000847498" "00025414" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "" "0000847498" "00024006" "70" "2168" "0" "2168" "0" "c.2168G>A" "r.(?)" "p.(Arg723Gln)" "8" "0000847499" "00025414" "70" "698" "0" "698" "0" "c.698dup" "r.(?)" "p.(Arg235Lysfs*12)" "" "0000847499" "00024006" "70" "703" "0" "703" "0" "c.703dup" "r.(?)" "p.(Arg235Lysfs*12)" "8" "0000847500" "00025414" "70" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "" "0000847500" "00024006" "70" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "8" "0000847501" "00025414" "70" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Gln278*)" "" "0000847501" "00024006" "70" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Gln278Ter)" "8" "0000847502" "00025414" "70" "2106" "0" "2106" "0" "c.2106G>A" "r.(=)" "p.(=)" "" "0000847502" "00024006" "70" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(Thr702=)" "8" "0000847504" "00025414" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000847504" "00024006" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "8" "0000847506" "00025414" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000847506" "00024006" "50" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "8" "0000847508" "00025414" "70" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Phe691Serfs*19)" "" "0000847508" "00024006" "70" "2072" "0" "2072" "0" "c.2072del" "r.(?)" "p.(Phe691Serfs*19)" "8" "0000847511" "00025414" "50" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Met)" "" "0000847511" "00024006" "50" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Met)" "8" "0000847512" "00025414" "50" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Ile444Phe)" "" "0000847512" "00024006" "50" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Ile444Phe)" "8" "0000851074" "00025414" "30" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Glu1168Gly)" "" "0000851074" "00024006" "30" "3503" "0" "3503" "0" "c.3503A>G" "r.(?)" "p.(Glu1168Gly)" "" "0000851075" "00025414" "30" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Pro1140Ser)" "" "0000851075" "00024006" "30" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Pro1140Ser)" "" "0000851076" "00025414" "10" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000851076" "00024006" "10" "3257" "0" "3257" "0" "c.3257A>G" "r.(?)" "p.(Glu1086Gly)" "" "0000851077" "00025414" "30" "2504" "0" "2504" "0" "c.2504G>A" "r.(?)" "p.(Arg835Lys)" "" "0000851077" "00024006" "30" "2504" "0" "2504" "0" "c.2504G>A" "r.(?)" "p.(Arg835Lys)" "" "0000851078" "00025414" "30" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Arg830=)" "" "0000851078" "00024006" "30" "2490" "0" "2490" "0" "c.2490G>A" "r.(?)" "p.(Arg830=)" "" "0000851079" "00025414" "30" "2382" "0" "2382" "0" "c.2382A>G" "r.(?)" "p.(Lys794=)" "" "0000851079" "00024006" "30" "2382" "0" "2382" "0" "c.2382A>G" "r.(?)" "p.(Lys794=)" "" "0000851080" "00025414" "30" "1533" "0" "1533" "0" "c.1533T>G" "r.(?)" "p.(Val511=)" "" "0000851080" "00024006" "30" "1533" "0" "1533" "0" "c.1533T>G" "r.(?)" "p.(Val511=)" "" "0000851081" "00025414" "30" "750" "-6" "750" "-6" "c.750-6T>C" "r.(=)" "p.(=)" "" "0000851081" "00024006" "30" "750" "-6" "750" "-6" "c.750-6T>C" "r.(=)" "p.(=)" "" "0000851082" "00025414" "50" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000851082" "00024006" "50" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000851083" "00025414" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000851083" "00024006" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "" "0000851084" "00025414" "30" "72" "0" "72" "0" "c.72T>C" "r.(?)" "p.(Ser24=)" "" "0000851084" "00024006" "30" "72" "0" "72" "0" "c.72T>C" "r.(?)" "p.(Ser24=)" "" "0000860173" "00025414" "30" "3535" "0" "3535" "0" "c.3535G>T" "r.(?)" "p.(Asp1179Tyr)" "" "0000860173" "00024006" "30" "3535" "0" "3535" "0" "c.3535G>T" "r.(?)" "p.(Asp1179Tyr)" "" "0000860174" "00025414" "50" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Pro1140Ser)" "" "0000860174" "00024006" "50" "3418" "0" "3418" "0" "c.3418C>T" "r.(?)" "p.(Pro1140Ser)" "" "0000860175" "00025414" "30" "3039" "0" "3039" "0" "c.3039G>A" "r.(?)" "p.(Gln1013=)" "" "0000860175" "00024006" "30" "3039" "0" "3039" "0" "c.3039G>A" "r.(?)" "p.(Gln1013=)" "" "0000860176" "00025414" "30" "2916" "0" "2916" "0" "c.2916T>G" "r.(?)" "p.(Ser972=)" "" "0000860176" "00024006" "30" "2916" "0" "2916" "0" "c.2916T>G" "r.(?)" "p.(Ser972=)" "" "0000860177" "00025414" "50" "2374" "-10" "2374" "-10" "c.2374-10A>G" "r.(=)" "p.(=)" "" "0000860177" "00024006" "50" "2374" "-10" "2374" "-10" "c.2374-10A>G" "r.(=)" "p.(=)" "" "0000860178" "00025414" "30" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565His)" "" "0000860178" "00024006" "30" "1694" "0" "1694" "0" "c.1694G>A" "r.(?)" "p.(Arg565His)" "" "0000860179" "00025414" "30" "932" "-10" "932" "-10" "c.932-10A>G" "r.(=)" "p.(=)" "" "0000860179" "00024006" "30" "932" "-10" "932" "-10" "c.932-10A>G" "r.(=)" "p.(=)" "" "0000860180" "00025414" "30" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000860180" "00024006" "30" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Tyr218Cys)" "" "0000860181" "00025414" "30" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Thr60Ala)" "" "0000860181" "00024006" "30" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Thr60Ala)" "" "0000887046" "00025414" "30" "3485" "13" "3485" "15" "c.3485+13_3485+15del" "r.(=)" "p.(=)" "" "0000887046" "00024006" "30" "3485" "13" "3485" "15" "c.3485+13_3485+15del" "r.(=)" "p.(=)" "" "0000887047" "00025414" "10" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Arg835=)" "" "0000887047" "00024006" "10" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Arg835=)" "" "0000887048" "00025414" "70" "2374" "-1" "2374" "-1" "c.2374-1G>A" "r.spl?" "p.?" "" "0000887048" "00024006" "70" "2374" "-1" "2374" "-1" "c.2374-1G>A" "r.spl?" "p.?" "" "0000887049" "00025414" "30" "2374" "-8" "2374" "-8" "c.2374-8C>T" "r.(=)" "p.(=)" "" "0000887049" "00024006" "30" "2374" "-8" "2374" "-8" "c.2374-8C>T" "r.(=)" "p.(=)" "" "0000887050" "00025414" "30" "1404" "0" "1404" "0" "c.1404A>G" "r.(?)" "p.(Glu468=)" "" "0000887050" "00024006" "30" "1404" "0" "1404" "0" "c.1404A>G" "r.(?)" "p.(Glu468=)" "" "0000887051" "00025414" "30" "804" "0" "804" "0" "c.804A>C" "r.(?)" "p.(Ser268=)" "" "0000887051" "00024006" "30" "804" "0" "804" "0" "c.804A>C" "r.(?)" "p.(Ser268=)" "" "0000905974" "00025414" "50" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631Gln)" "" "0000905974" "00024006" "50" "1892" "0" "1892" "0" "c.1892G>A" "r.(?)" "p.(Arg631Gln)" "" "0000908859" "00024006" "70" "2492" "5" "2492" "5" "c.2492+5G>A" "r.[2374_2492del,2492_2493ins[guaaa;2492+6_2492+40]]" "p.[Glu792Ilefs*18,Ile831Metfs*2]" "" "0000908928" "00024006" "90" "1051" "0" "1051" "0" "c.1051C>T" "r.1051c>u" "p.Arg351*" "" "0000909268" "00024006" "70" "1988" "0" "1988" "0" "c.1988C>G" "r.(?)" "p.(Ser663*)" "" "0000909269" "00024006" "30" "1687" "0" "1687" "0" "c.1687T>C" "r.(?)" "p.(Cys563Arg)" "" "0000916627" "00024006" "70" "630" "0" "631" "0" "c.630_631del" "r.(?)" "p.(Lys211Thrfs*16)" "7" "0000916628" "00024006" "70" "2623" "1" "2623" "1" "c.2623+1G>C" "r.spl?" "p.(?)" "19i" "0000916647" "00024006" "90" "1151" "1" "1151" "1" "c.1151+1G>A" "r.spl?" "p.(?)" "9i" "0000916648" "00024006" "90" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "25" "0000916725" "00024006" "90" "2212" "0" "2212" "0" "c.2212C>T" "r.(?)" "p.(Arg738*)" "16" "0000916726" "00024006" "50" "2795" "0" "2795" "0" "c.2795G>A" "r.(?)" "p.(Arg932His)" "21" "0000916727" "00024006" "70" "2988" "6" "2988" "6" "c.2988+6T>C" "r.(=)" "p.?" "22i" "0000929152" "00025414" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000929152" "00024006" "30" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Pro242Ser)" "" "0000948656" "00025414" "30" "3579" "0" "3579" "0" "c.3579T>C" "r.(?)" "p.(Thr1193=)" "" "0000948656" "00024006" "30" "3579" "0" "3579" "0" "c.3579T>C" "r.(?)" "p.(Thr1193=)" "" "0000948657" "00025414" "30" "2808" "0" "2808" "0" "c.2808A>G" "r.(?)" "p.(Thr936=)" "" "0000948657" "00024006" "30" "2808" "0" "2808" "0" "c.2808A>G" "r.(?)" "p.(Thr936=)" "" "0000948658" "00025414" "90" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000948658" "00024006" "90" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0000954010" "00024006" "90" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Trp725Ter)" "" "0000958936" "00024006" "50" "1979" "0" "1979" "0" "c.1979T>A" "r.(?)" "p.(Leu660His)" "" "0000959373" "00024006" "90" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066Ter)" "" "0000963828" "00025414" "30" "3546" "0" "3546" "0" "c.3546G>A" "r.(?)" "p.(Met1182Ile)" "" "0000963828" "00024006" "30" "3546" "0" "3546" "0" "c.3546G>A" "r.(?)" "p.(Met1182Ile)" "" "0000963829" "00025414" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(=)" "" "0000963829" "00024006" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(=)" "" "0000963830" "00025414" "30" "2492" "14" "2492" "14" "c.2492+14A>G" "r.(=)" "p.(=)" "" "0000963830" "00024006" "30" "2492" "14" "2492" "14" "c.2492+14A>G" "r.(=)" "p.(=)" "" "0000963832" "00025414" "50" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000963832" "00024006" "50" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "0000963835" "00025414" "50" "10" "2" "10" "2" "c.10+2T>C" "r.spl?" "p.?" "" "0000963835" "00024006" "50" "10" "2" "10" "2" "c.10+2T>C" "r.spl?" "p.?" "" "0000976997" "00025414" "30" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000976997" "00024006" "30" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000995346" "00025414" "70" "1152" "-2" "1152" "-2" "c.1152-2del" "r.spl?" "p.?" "" "0000995346" "00024006" "70" "1152" "-2" "1152" "-2" "c.1152-2del" "r.spl?" "p.?" "" "0001014176" "00025414" "30" "932" "-10" "932" "-10" "c.932-10A>G" "r.(=)" "p.(=)" "" "0001014176" "00024006" "30" "932" "-10" "932" "-10" "c.932-10A>G" "r.(=)" "p.(=)" "" "0001014177" "00025414" "30" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Thr60Ala)" "" "0001014177" "00024006" "30" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Thr60Ala)" "" "0001025172" "00025414" "50" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0001025172" "00024006" "50" "2798" "0" "2798" "0" "c.2798A>G" "r.(?)" "p.(Tyr933Cys)" "" "0001030869" "00025414" "70" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0001030869" "00024006" "70" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0001030875" "00025414" "70" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0001030875" "00024006" "70" "202" "0" "202" "0" "c.202A>G" "r.(?)" "p.(Arg68Gly)" "" "0001035490" "00025414" "50" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0001035490" "00024006" "50" "3196" "0" "3196" "0" "c.3196C>T" "r.(?)" "p.(Arg1066*)" "" "0001035491" "00025414" "50" "1421" "0" "1421" "0" "c.1421T>C" "r.(?)" "p.(Ile474Thr)" "" "0001035491" "00024006" "50" "1421" "0" "1421" "0" "c.1421T>C" "r.(?)" "p.(Ile474Thr)" "" "0001044577" "00025414" "90" "1500" "0" "1500" "0" "c.1500C>G" "r.(?)" "p.(Tyr500*)" "" "0001044577" "00024006" "90" "1500" "0" "1500" "0" "c.1500C>G" "r.(?)" "p.(Tyr500*)" "" "0001044586" "00025414" "90" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0001044586" "00024006" "90" "910" "0" "910" "0" "c.910dup" "r.(?)" "p.(Thr304Asnfs*6)" "" "0001044587" "00025414" "90" "2037" "-1" "2492" "16" "c.(2036+1_2037-1)_(2492+16_2493-1)del" "r.(2037_2492del)" "p.?" "" "0001044587" "00024006" "90" "2037" "-1" "2492" "16" "c.(2036+1_2037-1)_(2492+16_2493-1)del" "r.(2037_2492del)" "p.?" "" "0001044588" "00025414" "70" "2037" "-1" "2492" "16" "c.(2036+1_2037-1)_(2492+16_2493-1)del" "r.(2037_2492del)" "p.?" "" "0001044588" "00024006" "70" "2037" "-1" "2492" "16" "c.(2036+1_2037-1)_(2492+16_2493-1)del" "r.(2037_2492del)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 332 "{{screeningid}}" "{{variantid}}" "0000000036" "0000001098" "0000000039" "0000001096" "0000000051" "0000001097" "0000000053" "0000001099" "0000000066" "0000001100" "0000000069" "0000001094" "0000000087" "0000001095" "0000000094" "0000001101" "0000000096" "0000001093" "0000028942" "0000052242" "0000028942" "0000052243" "0000028943" "0000052244" "0000028943" "0000052245" "0000028944" "0000052246" "0000028944" "0000052247" "0000028945" "0000052248" "0000033164" "0000059087" "0000033164" "0000059088" "0000033405" "0000059089" "0000033405" "0000059090" "0000056003" "0000086039" "0000056004" "0000086040" "0000081213" "0000129976" "0000081213" "0000129977" "0000156242" "0000358164" "0000156242" "0000358411" "0000241532" "0000487542" "0000270575" "0000604349" "0000271043" "0000624891" "0000295153" "0000651842" "0000295154" "0000651843" "0000295155" "0000651844" "0000295156" "0000651845" "0000295157" 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