### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HK1)
# 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}}"
"HK1"	"hexokinase 1"	"10"	"q22"	"unknown"	"NG_012077.1"	"UD_132118582989"	""	"https://www.LOVD.nl/HK1"	""	"1"	"4922"	"3098"	"142600"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/HK1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-02-05 11:26:21"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00009421"	"HK1"	"transcript variant 1"	"005"	"NM_000188.2"	""	"NP_000179.2"	""	""	""	"-101"	"3501"	"2754"	"71078603"	"71161638"	""	"0000-00-00 00:00:00"	""	""
"00025404"	"HK1"	"transcript variant 5"	"002"	"NM_033500.2"	""	"NP_277035.2"	""	""	""	"-499"	"3465"	"2718"	"71029756"	"71161638"	"00008"	"2019-05-06 12:51:31"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01841"	"-"	"anemia, hemolytic, due to hexokinase deficiency"	"AR"	"235700"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02539"	"HMSNR;CMT4G"	"neuropathy, hereditary motor and sensory, Russe type (CMT4G)"	"AR"	"605285"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2022-01-06 14:41:54"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05113"	"CMT"	"Charcot-Marie-Tooth disease (CMT)"	""	""	""	""	""	"00006"	"2016-01-11 01:40:57"	""	""
"05724"	"RP79"	"retinitis pigmentosa, type 79 (RP79)"	"AD"	"617460"	""	""	""	"00006"	"2020-04-10 19:42:29"	""	""
"05727"	"NEDVIBA"	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	"AD"	"618547"	""	""	""	"00006"	"2020-04-19 12:42:42"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"HK1"	"01841"
"HK1"	"02539"
"HK1"	"05724"
"HK1"	"05727"


## Individuals ## Do not remove or alter this header ##
## Count = 70
"{{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}}"
"00219096"	""	""	""	"1"	""	"00006"	"{PMID:Hantke 2009:19536174}"	"multi-generation family"	"F;M"	"yes"	"Bulgaria"	""	"0"	""	""	"gypsy (Kalderas)"	"19536174-Fam"
"00219097"	""	""	""	"5"	""	"00006"	"{PMID:Hantke 2009:19536174}"	"control individuals"	"F;M"	""	"Bulgaria"	""	"0"	""	""	"gypsy"	"19536174-con"
"00233167"	""	""	""	"5"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233168"	""	""	""	"589"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233169"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233170"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233171"	""	""	""	"270"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233172"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233173"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233174"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233175"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233176"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233177"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233768"	""	""	""	"1198"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233769"	""	""	""	"266"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233770"	""	""	""	"27"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00299647"	""	""	""	"21"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	"6-generation family, 21 affected (11F,10M)"	"F"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD003-Pat15"
"00299648"	""	""	"00299647"	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	""	"F"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD003-Pat13"
"00299649"	""	""	"00299647"	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	""	"M"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD003-Pat16"
"00299650"	""	""	"00299647"	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	""	"F"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD003-Pat21"
"00299651"	""	""	"00299647"	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	""	"M"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD003-Pat20"
"00299652"	""	""	""	"10"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	"4-generation family, 10 affected (7F, 3M)"	"F"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD936-Pat10050"
"00299653"	""	""	""	"7"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	"5-generation family, 7 affected (3F, 4M)"	"M"	""	"United States"	""	"0"	""	""	"Louisiana"	"FamUTAD952-Pat10109"
"00299654"	""	""	""	"6"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	"3-generation family, 6 affected (6M)"	"M"	""	"Canada"	""	"0"	""	""	"Quebec"	"FamMOGL1-Pat5259"
"00299655"	""	""	"00299654"	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	"son"	"M"	""	"Canada"	""	"0"	""	""	"Quebec"	"FamMOGL1-Pat515"
"00299656"	""	""	"00299654"	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	""	"M"	""	"Canada"	""	"0"	""	""	"Quebec"	"FamMOGL1-Pat5231"
"00299657"	""	""	""	"1"	""	"00006"	"{PMID:Sullivan 2014:25190649}"	"2-generation family, 1 affected, apparently unaffected parents and an unaffected sibling"	"F"	""	"Italy"	""	"0"	""	""	"Sicily"	"FamMOGL2-Pat1807"
"00299658"	""	""	""	"18"	""	"00006"	"{PMID:Wang 2014:25316723}"	"4-generation family, 18 affected (8F,10M)"	"F;M"	"no"	"United States"	""	"0"	""	""	"European"	"Family"
"00299659"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat2"
"00299660"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat3"
"00299661"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat7"
"00299662"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat9"
"00299663"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat10"
"00299664"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat12"
"00299665"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat13"
"00299666"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat14"
"00299667"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat19"
"00299668"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat22"
"00299669"	""	""	"00299658"	"1"	""	"00006"	"{PMID:Wang 2014:25316723}"	""	""	""	"United States"	""	"0"	""	""	"European"	"FamPat1"
"00377375"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00394322"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP4"
"00395597"	""	""	""	"1"	""	"00000"	"{PMID:Perea-Romero 2021:34448047}"	""	""	""	"Spain"	""	"0"	""	""	""	"RP-2176"
"00395887"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F121"
"00395930"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F174"
"00397837"	""	""	""	"1"	""	"04212"	"{PMID:Kanwal 2021:34193129}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Pakistan"	">11y"	"0"	""	""	""	"PaC4:IV-1"
"00409822"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2017:28765615}"	"Family 1 individual  II-1"	"F"	""	""	""	"0"	""	""	"Han Chinese"	"F1: II-1"
"00409823"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2017:28765615}"	"Family 1 individual  II-2"	"F"	""	""	""	"0"	""	""	"Han Chinese"	"F1: II-2"
"00409824"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2017:28765615}"	"Family 1 individual  II-3"	"M"	""	""	""	"0"	""	""	"Han Chinese"	"F1: II-3"
"00409825"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2017:28765615}"	"Family 2 individual  II-1"	"F"	""	""	""	"0"	""	""	"white"	"F2: II-1"
"00409826"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2017:28765615}"	"Family 3 individual  II-1"	"F"	""	""	""	"0"	""	""	"white"	"F3: II-1"
"00409827"	""	""	""	"1"	""	"00000"	"{PMID:Yuan 2017:28765615}"	"Family 4 individual  II-1"	"M"	""	""	""	"0"	""	""	"white"	"F4: II-1"
"00409828"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"F"	""	""	""	"0"	""	""	""	"Patient 1"
"00409829"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"F"	""	""	""	"0"	""	""	""	"Patient 2"
"00409830"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 3"
"00409831"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 4"
"00409832"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"M"	""	""	""	"0"	""	""	""	"Patient 5"
"00409833"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"M"	""	""	"<1y"	"0"	""	""	""	"Patient 6"
"00409834"	""	""	""	"1"	""	"00000"	"{PMID:Okur 2019:30778173}"	""	"F"	""	""	"<1y"	"0"	""	""	""	"Patient 7"
"00409835"	""	""	""	"1"	""	"00000"	"{PMID:Sato 2019:31621442}"	""	"M"	""	""	""	"0"	""	""	"Japanese"	"?"
"00420463"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F121"
"00420495"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F174"
"00429778"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430053"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430107"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430129"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00438403"	""	""	""	"1"	""	"00006"	"{PMID:Chuan 2022:35571021}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat122"
"00447296"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1197"
"00447320"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1264"
"00447675"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"MDS-409"
"00447703"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1122"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 70
"{{individualid}}"	"{{diseaseid}}"
"00219096"	"02539"
"00219097"	"00000"
"00233167"	"04214"
"00233168"	"04214"
"00233169"	"04214"
"00233170"	"04214"
"00233171"	"04214"
"00233172"	"04214"
"00233173"	"04214"
"00233174"	"04214"
"00233175"	"04214"
"00233176"	"04214"
"00233177"	"04214"
"00233768"	"04214"
"00233769"	"04214"
"00233770"	"04214"
"00299647"	"04214"
"00299648"	"04214"
"00299649"	"04214"
"00299650"	"04214"
"00299651"	"04214"
"00299652"	"04214"
"00299653"	"04214"
"00299654"	"04214"
"00299655"	"04214"
"00299656"	"04214"
"00299657"	"04214"
"00299658"	"04214"
"00299659"	"04214"
"00299660"	"04214"
"00299661"	"04214"
"00299662"	"04214"
"00299663"	"04214"
"00299664"	"04214"
"00299665"	"04214"
"00299666"	"04214"
"00299667"	"04214"
"00299668"	"04214"
"00299669"	"04214"
"00377375"	"04214"
"00394322"	"04214"
"00395597"	"04214"
"00395887"	"04214"
"00395930"	"04214"
"00397837"	"05113"
"00409822"	"04214"
"00409823"	"04214"
"00409824"	"04214"
"00409825"	"04214"
"00409826"	"04214"
"00409827"	"04214"
"00409828"	"05727"
"00409829"	"05727"
"00409830"	"05727"
"00409831"	"05727"
"00409832"	"05727"
"00409833"	"05727"
"00409834"	"05727"
"00409835"	"04214"
"00420463"	"04214"
"00420495"	"04214"
"00429778"	"00112"
"00430053"	"00112"
"00430107"	"00112"
"00430129"	"00112"
"00438403"	"04270"
"00447296"	"00198"
"00447320"	"00198"
"00447675"	"00198"
"00447703"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 01841, 02539, 04214, 04270, 05113, 05724, 05727
## Count = 55
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000167653"	"02539"	"00219096"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"HMSNR"	""	""
"0000226953"	"04214"	"00299647"	"00006"	"Familial, autosomal dominant"	"68y"	"see paper; ..., count fingers OD, 20/30 OS"	"<40y"	""	""	""	""	""	""	""	"RP79"	"central areolar choroidal dystrophy"	""
"0000226954"	"04214"	"00299648"	"00006"	"Familial, autosomal dominant"	"56y"	"see paper; ..., 20/25 OD, 20/20 OS, pericentral pattern of atrophy, peripheral bone spicule deposition"	"<30y"	""	""	""	""	""	""	""	"RP79"	"pericentral retinitis pigmentosa"	""
"0000226955"	"04214"	"00299649"	"00006"	"Familial, autosomal dominant"	"34y"	"see paper; ..., 33y-count fingers OD, 20/200 OS; 4y-profound nyctalopia (HP:0000662); 33y-classic features RP in each eye: severe retinal vascular attenuation (HP:?), diffuse optic disc pallor, extensive and broadly distributed pigment epithelial atrophy with bone spicule (HP:0007737) accumulation, macular atrophy each eye consistent, reduced acuity"	"04y"	""	"profound nyctalopia"	""	""	""	""	""	"RP79"	"severe retinitis pigmentosa"	""
"0000226956"	"04214"	"00299650"	"00006"	"Familial, autosomal dominant"	"61y"	"see paper; ..., 20/20 OD, 20/20 OS"	""	""	""	""	""	""	""	""	"RP79"	"mild pericentral retinitis pigmentosa"	""
"0000226957"	"04214"	"00299651"	"00006"	"Familial, autosomal dominant"	"52y"	"see paper; ..., 20/20 OD, 20/20 OS, mild retinal changes"	""	""	""	""	""	""	""	""	"RP79"	"asymptomatic"	""
"0000226958"	"04214"	"00299652"	"00006"	"Familial, autosomal dominant"	"56y"	"see paper; ..., 20/32 OD, 20/80 OS, heavy pigmentary deposits, focal areas of hypopigmentation located primarily in midperiphery, retinal vessels moderately attenuated, far periphery appears relatively intact, consistent with sizable full-field ERG and far peripheral sensitivity to the Goldmann V4e test target"	"24y"	""	""	""	""	""	""	""	"RP79"	"pericentral retinitis pigmentosa"	""
"0000226959"	"04214"	"00299653"	"00006"	"Familial, autosomal dominant"	"51y"	"see paper; ..., 20/40 OD, 20/50 OS, dense midperipheral bone spicule pigmentation interspersed with focal areas of hypopigmentation, retinal vessels severely attenuated (no vessels visible nasal to disc, abnormalities extend into far periphery, consistent with severely attenuated ERG, visual field sensitivity limited to central retina"	"13y"	""	""	""	""	""	""	""	"RP79"	"pericentral retinitis pigmentosa"	""
"0000226960"	"04214"	"00299654"	"00006"	"Familial, autosomal dominant"	"60y"	"see paper; ..., count fingers OD, 20/60 OS, widespread macular atrophy, narrow vessels, lack of pigmentation, relatively normal-appearing optic disc"	"20y"	""	""	""	""	""	""	""	"RP79"	"central areolar choroidal dystrophy"	""
"0000226961"	"04214"	"00299655"	"00006"	"Familial, autosomal dominant"	"45y"	"see paper; ..., 20/20 OD, 20/20 OS, bull\'s-eye maculopathy, extensive RPE mottling, dense pigmentation around arcades"	"25y"	""	""	""	""	""	""	""	"RP79"	"pericentral retinitis pigmentosa"	""
"0000226962"	"04214"	"00299656"	"00006"	"Familial, autosomal dominant"	"40y"	"see paper; ..., 20/20 OD, 20/20 OS, bull\'s-eye maculopathy with RPE mottling around arcades, no pigmentary changes"	"25y"	""	""	""	""	""	""	""	"RP79"	"pericentral retinitis pigmentosa"	""
"0000226963"	"04214"	"00299657"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RP79"	"autosomal doninantretinitis pigmentosa"	""
"0000226964"	"04214"	"00299658"	"00006"	"Familial, autosomal dominant"	""	"disease severity ranged from mild pigmentary changes to severe retinal pigment epithelium and retinal degeneration, concomitant cone photoreceptor degeneration in older patients manifested by photophobia, color vision changes, decreased central vision; fundus images proband showed abrupt border of chorioretinal degeneration outside posterior pole, sclerosis of choroidal vessels, pigmentary changes macula; nyctalopia (HP:0000662)"	""	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226965"	"04214"	"00299659"	"00006"	"Familial, autosomal dominant"	"20y"	"11y-onset nyctalopia (HP:0000662)"	"11y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226966"	"04214"	"00299660"	"00006"	"Familial, autosomal dominant"	"75y"	"19y-onset nyctalopia (HP:0000662)"	"19y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226967"	"04214"	"00299661"	"00006"	"Familial, autosomal dominant"	"29y"	"16y-onset nyctalopia (HP:0000662)"	"16y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226968"	"04214"	"00299662"	"00006"	"Familial, autosomal dominant"	"54y"	"13y-onset nyctalopia (HP:0000662)"	"13y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226969"	"04214"	"00299663"	"00006"	"Familial, autosomal dominant"	"52y"	"5y-onset nyctalopia (HP:0000662)"	"5y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226970"	"04214"	"00299664"	"00006"	"Familial, autosomal dominant"	"31y"	"5y-onset nyctalopia (HP:0000662)"	"5y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226971"	"04214"	"00299665"	"00006"	"Familial, autosomal dominant"	"34y"	"19y-onset nyctalopia (HP:0000662)"	"19y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226972"	"04214"	"00299666"	"00006"	"Familial, autosomal dominant"	"19y"	"23y-onset nyctalopia (HP:0000662)"	"23y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226973"	"04214"	"00299667"	"00006"	"Familial, autosomal dominant"	"50y"	"13y-onset nyctalopia (HP:0000662)"	"13y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226974"	"04214"	"00299668"	"00006"	"Familial, autosomal dominant"	"42y"	"6y-onset nyctalopia (HP:0000662)"	"6y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000226975"	"04214"	"00299669"	"00006"	"Familial, autosomal dominant"	"51y"	"10y-onset nyctalopia (HP:0000662)"	"10y"	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000272525"	"04214"	"00377375"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP79"	"retinitis pigmentosa"	""
"0000287526"	"04214"	"00394322"	"00000"	"Familial, autosomal dominant"	""	"Early-onset RP, ERG consistent with RP"	"8y"	""	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000288795"	"04214"	"00395597"	"00000"	"Familial, autosomal dominant"	""	"astigmatism, early onset rod-cone dystrophy, exotropia, myopia, nystagmus, photophobia, abnormality of blood glucose concentration, hypothyroidism, insulin resistance, intellectual disability, motor delay, talipes cavus equinovarus, kyphoscoliosis, abnormal facial shapefetal distress"	""	""	""	""	""	""	""	""	"Early onset retinitis pigmentosa, neurodevelopmental disorder"	""	""
"0000289049"	"04214"	"00395887"	"00000"	"Unknown"	"60y4m"	""	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289092"	"04214"	"00395930"	"00000"	"Unknown"	"14y8m"	""	"15y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000290964"	"05113"	"00397837"	"04212"	"Familial, autosomal recessive"	"11y"	"Full-term pregnancy, 15m-unable to walk without support; 2,5y-gait disturbance (HP:0001288); absent deep tendon reflexes (HP:0001284); feet disformities; sensory loss (HP:0002936)"	"01y"	""	"15m-unable walking without support"	""	""	""	""	""	"HMSNR"	"Charcot-Marie-Tooth disease"	""
"0000301937"	"04214"	"00409822"	"00000"	"Familial, autosomal dominant"	"54y"	"best corrected visual acuity: hand motion both eyes; electroretinogram:  rod:  normal cone: mild reduction; visual field: central scotoma both eyes; optical coherence tomography: absence of ellipsoid and interdigitation zones both eyes; ophthalmoscopy: posterior pole atrophy both eyes, pigmented epithelial atrophy both eyes,"	"18y"	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000301938"	"04214"	"00409823"	"00000"	"Familial, autosomal dominant"	"50y"	"best corrected visual acuity: 20/25 right eye 20/30 left eye; electroretinogram:  rod: mild reduction cone: moderate reduction; visual field: arcuate visual defect right eye, para central scotoma left eye; optical coherence tomography: absence of ellipsoid and interdigitation zones both eyes except fovea; ophthalmoscopy: ring shaped atrophic posterior pole with normal fovea both eyes"	"35y"	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000301939"	"04214"	"00409824"	"00000"	"Familial, autosomal dominant"	"48y"	"best corrected visual acuity: 20/30 both eyes; electroretinogram:  rod: severe reduction cone: moderate reduction; visual field: constricted visual field both eyes; optical coherence tomography: absence of ellipsoid and interdigitation zones both eyes except fovea; ophthalmoscopy: bone-spicule pigmentary deposits with normal fovea both eyes, vascular attenuation"	"28y"	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000301940"	"04214"	"00409825"	"00000"	"Familial, autosomal dominant"	"38y"	"best corrected visual acuity: 20/30 both eyes; electroretinogram:  rod: moderate reduction cone: moderate reduction; visual field: constricted visual field both eyes; optical coherence tomography: not available; ophthalmoscopy: bone spicules both eyes, mild vascular attenuation, mild diffuse optic nerve pallor both eyes, pigmented epithelial atrophy"	"18y"	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000301941"	"04214"	"00409826"	"00000"	"Familial, autosomal dominant"	"37y"	"best corrected visual acuity: 20/30 right eye 20/25 left eye; electroretinogram:  not available; visual field: not available; optical coherence tomography: not available; ophthalmoscopy: bone spicules both eyes, apparent vascular attenuation, mild diffuse optic nerve pallor both eyes"	">15y"	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000301942"	"04214"	"00409827"	"00000"	"Familial, autosomal dominant"	"14y"	"best corrected visual acuity: not available; electroretinogram:  not available; visual field: not available; optical coherence tomography: bilateral retinal thinning; ophthalmoscopy: mild cystoid macular edema left eye, mild vascular attenuation, optic nerve pallor both eyes"	"10y"	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000301943"	"05727"	"00409828"	"00000"	"Isolated (sporadic)"	"34y"	"Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: delayed; age at walking: 2y3m; age at talking & current speech:delayed; dysmorphic features: 5th finger clinodactyly; neurologic & behavioral problems: ataxia anxiety; electroencephalogram: not available; brain magnetic resonance: abnormal signaling in caudate pathway and putamen; visual abnormalities: retinitis pigmentosa, peripheral vision loss and gaze abnormality; other abnormalities: kyphoscoliosis, pes planus"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301944"	"05727"	"00409829"	"00000"	"Isolated (sporadic)"	"9y"	"Prenatal development: cystic brain lesions found at 7m gestation but later resolved; developmental delay, intellectual disability ; no microcephaly; short stature; age at sitting: 2y; age at walking: cannot walk unassisted; age at talking & current speech:First words at 14 months & significantly limited, expressive language now, only a few words; dysmorphic features: right earlobe crease, frontal bossing, epicanthal folds, anteverted nose, bulbous nasal tip, preauricular pit, thin upper lip; neurologic & behavioral problems: truncal hypotonia limb hypertonia (lower > upper) brisk deep tendon reflexs some contractures in hamstrings, no self-care skills; electroencephalogram: normal; brain magnetic resonance: cerebral & cerebellar atrophy, thin corpus callosum, periventricular leukomalacia, possible gray matter heterotropia; visual abnormalities: cortical visual impairment, strabismus, astigmatism; other abnormalities: scoliosis, bilateral hip dislocation (Wears AFOs), torticollis, clonus, and spasticity as innt, poor weight gain"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301945"	"05727"	"00409830"	"00000"	"Isolated (sporadic)"	"14y"	"Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y6m; age at talking & current speech:2 years & Speaks in sentences and has word finding difficulties; dysmorphic features: none; neurologic & behavioral problems: ataxia, staring spells, tingling in legs (electromyography normal), hypotonia, will hug and kiss strangers; electroencephalogram: normal; brain magnetic resonance: cystic lesion on brain; visual abnormalities: retinitis pigmentosa, cone-rod dystrophy, optic atrophy, photophobia, slight exotropia, bilateral strabismus; other abnormalities: familial mediterranean fever (heterozygous MEFV mutation), gags easily and sometimes chokes on f"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301946"	"05727"	"00409831"	"00000"	"Isolated (sporadic)"	"44y"	"Prenatal development: premature, born at 8m gestation; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: 8m; age at walking: 1y4m; age at talking & current speech:1y6m; dysmorphic features: none; neurologic & behavioral problems: none; electroencephalogram: not available; brain magnetic resonance: not available; visual abnormalities: retinitis pigmentosa (age of diagnosis: 7 years), optic atrophy; other abnormalities: hypertension"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301947"	"05727"	"00409832"	"00000"	"Isolated (sporadic)"	"8y"	"Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: n/a; age at walking: 1y; age at talking & current speech:delayed & dysarthric speech; dysmorphic features: flat occiput, slight synophrys (father), widely spaced teeth; neurologic & behavioral problems: progressive neurologic decline, abnormal tone, mild wide spaced gait, bulbar weakness (mild drooling), swallowing dysfunction recent onset right-sided facial weakness; electroencephalogram: mild diffuse slowing; brain magnetic resonance: lesions in brainstem (concerning for a demyelinating disease vs autoimmune process vs Guillain Barre syndrome); visual abnormalities: bilateral optic atrophy; other abnormalities: full cheeks (steroid usage) ,truncal obesity, high blood vs zero cerebrospinal fluid glutamine, high cerebrospinal fluid lactate and pyruvate, high peripheral blood lactate"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301948"	"05727"	"00409833"	"00000"	"Isolated (sporadic)"	"<1y"	"Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms limb hypertonia; electroencephalogram: consistent with early myoclonic epileptic encephalopathy; brain magnetic resonance: abnormal autopsy findings volume loss along the white matter adjacent to the atria and frontal horns of the ventricle, atrophy of pons and brainstem, bilateral subdural fluid collection; visual abnormalities: optic atrophy nystagmus; other abnormalities: feeding difficulty, gastroesophageal reflux disease, small umbilical hernia, laryngotracheomalacia"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301949"	"05727"	"00409834"	"00000"	"Isolated (sporadic)"	"<1y"	"Prenatal development: unremarkable; developmental delay, intellectual disability ; no microcephaly; no short stature; age at sitting: not achieved; age at walking: not achieved; age at talking & current speech:not achieved; dysmorphic features: none; neurologic & behavioral problems: seizures infantile spasms hypertonia; electroencephalogram: abnormal (verbal disclosure); brain magnetic resonance: ventricular dilatation predominantly involving the occipital and temporal horns of the lateral ventricles with prominence of the subarachnoid space raising the possibility of underlying atrophy and a migrational anomaly; visual abnormalities: optic atrophy; other abnormalities: failure to thrive, gastroesophageal reflux disease, g-tube, hearing loss, laryngotracheomalacia respiratory distress"	""	""	""	""	""	""	""	""	"neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA)"	""	""
"0000301950"	"04214"	"00409835"	"00000"	"Familial, autosomal dominant"	"71y"	"night blindness since school days; medical history: angina pectoris, hyperlipidemia, hypertrophy of the prostate but not anemia, hearing loss, or neurological symptoms; best corrected visual acuity right/left eye: 1.2 / 1.0, symmetric bilateral doughnut-shaped retinal degeneration, attenuated retinal vessels with pigment dispersion, optic nerve heads almost normal; fundus autofluorescence: symmetrical afferent low fundus autofluorescence lesion and slightly ring-shaped high fundus autofluorescence, surrounded by a low fundus autofluorescence lesion in the macula area in both eyes. Goldman perimetry: bilateral symmetrical ring scotoma; bright flash electroretinogram: negative b-wave pattern; a-wave amplitude and oscillatory potential preserved in both eyes; 30-Hz flicker electroretinogram: attenuated wave patterns in both eyes; spectral domain optical coherence tomography: retinal thinning in accordance with the low autofluorescence lesion by fundus autofluorescence and foveal thickening due to pre-retinal membrane formation without macular edema in both eyes; 71y: best corrected visual acuity right/left eye: 1.0 / 0.8; retinal degeneration progressed in the vertical direction of the optic disc in both eyes; fundus autofluorescence: centripetal enlargements of the low autofluorescence regions; minimal, but reduction of the low autofluorescence area of the macular region and small low autofluorescence region of the temporal macula in both eyes.Goldman perimetry: enlargement of the ring scotoma in the outward direction, but afferent expansion was not obvious in both eyes; bright flash electroretinogram and spectral domain optical coherence tomography: no obvious changes in either eye"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311711"	"04214"	"00420463"	"00000"	"Familial, autosomal dominant"	"60y4m"	""	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311743"	"04214"	"00420495"	"00000"	"Familial, autosomal dominant"	"14y8m"	""	"15y"	""	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000320650"	"00112"	"00429778"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320925"	"00112"	"00430053"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320979"	"00112"	"00430107"	"04436"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321001"	"00112"	"00430129"	"04436"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000328307"	"04270"	"00438403"	"00006"	"Isolated (sporadic)"	""	"HP:0001250 seizures; HP:0001276 hypertonia"	"10d"	""	""	""	""	""	""	""	""	"epilepsy"	""
"0000336495"	"00198"	"00447296"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336519"	"00198"	"00447320"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336874"	"00198"	"00447675"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000336902"	"00198"	"00447703"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""


## Screenings ## Do not remove or alter this header ##
## Count = 70
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000220168"	"00219096"	"1"	"00006"	"00006"	"2019-02-05 13:48:09"	""	""	"SEQ"	"DNA"	""	""
"0000220169"	"00219097"	"1"	"00006"	"00006"	"2019-02-05 14:21:29"	""	""	"SEQ"	"DNA"	""	""
"0000234266"	"00233167"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234267"	"00233168"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234268"	"00233169"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234269"	"00233170"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234270"	"00233171"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234271"	"00233172"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234272"	"00233173"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234273"	"00233174"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234274"	"00233175"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234275"	"00233176"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234276"	"00233177"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234867"	"00233768"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234868"	"00233769"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234869"	"00233770"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000300757"	"00299647"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000300758"	"00299648"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300759"	"00299649"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300760"	"00299650"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300761"	"00299651"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300762"	"00299652"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300763"	"00299653"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300764"	"00299654"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300765"	"00299655"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300766"	"00299656"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300767"	"00299657"	"1"	"00006"	"00006"	"2020-04-19 14:04:33"	""	""	"SEQ"	"DNA"	""	""
"0000300768"	"00299658"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000300769"	"00299659"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300770"	"00299660"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300771"	"00299661"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300772"	"00299662"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300773"	"00299663"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300774"	"00299664"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300775"	"00299665"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300776"	"00299666"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300777"	"00299667"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300778"	"00299668"	"1"	"00006"	"00006"	"2020-04-19 14:47:24"	""	""	"SEQ"	"DNA"	""	""
"0000300779"	"00299669"	"1"	"00006"	"00006"	"2020-04-19 14:49:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000378578"	"00377375"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000395569"	"00394322"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000396835"	"00395597"	"1"	"00000"	"03840"	"2021-12-08 14:12:08"	""	""	"?"	"DNA"	""	"whole exome sequencing"
"0000397126"	"00395887"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397169"	"00395930"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000399079"	"00397837"	"1"	"04212"	"04212"	"2021-12-29 10:21:01"	""	""	"SEQ"	"DNA"	""	""
"0000411086"	"00409822"	"1"	"00000"	"03840"	"2022-05-11 14:18:03"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"target capture panel sequencing"
"0000411087"	"00409823"	"1"	"00000"	"03840"	"2022-05-11 14:18:03"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"target capture panel sequencing"
"0000411088"	"00409824"	"1"	"00000"	"03840"	"2022-05-11 14:18:03"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"target capture panel sequencing"
"0000411089"	"00409825"	"1"	"00000"	"03840"	"2022-05-11 14:18:03"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"target capture panel sequencing"
"0000411090"	"00409826"	"1"	"00000"	"03840"	"2022-05-11 14:18:03"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"target capture panel sequencing"
"0000411091"	"00409827"	"1"	"00000"	"03840"	"2022-05-11 14:18:03"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"target capture panel sequencing"
"0000411092"	"00409828"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411093"	"00409829"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411094"	"00409830"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411095"	"00409831"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411096"	"00409832"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411097"	"00409833"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411098"	"00409834"	"1"	"00000"	"03840"	"2022-05-11 15:22:31"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000411099"	"00409835"	"1"	"00000"	"03840"	"2022-05-11 16:31:33"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000421772"	"00420463"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421804"	"00420495"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000431191"	"00429778"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431466"	"00430053"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431520"	"00430107"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431542"	"00430129"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000439885"	"00438403"	"1"	"00006"	"00006"	"2023-10-20 19:13:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000448873"	"00447296"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448897"	"00447320"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449252"	"00447675"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449280"	"00447703"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 65
"{{screeningid}}"	"{{geneid}}"
"0000220168"	"HK1"
"0000220169"	"HK1"
"0000234266"	"HK1"
"0000234267"	"HK1"
"0000234268"	"HK1"
"0000234269"	"HK1"
"0000234270"	"HK1"
"0000234271"	"HK1"
"0000234272"	"HK1"
"0000234273"	"HK1"
"0000234274"	"HK1"
"0000234275"	"HK1"
"0000234276"	"HK1"
"0000234867"	"HK1"
"0000234868"	"HK1"
"0000234869"	"HK1"
"0000300757"	"HK1"
"0000300758"	"HK1"
"0000300759"	"HK1"
"0000300760"	"HK1"
"0000300761"	"HK1"
"0000300762"	"HK1"
"0000300763"	"HK1"
"0000300764"	"HK1"
"0000300765"	"HK1"
"0000300766"	"HK1"
"0000300767"	"HK1"
"0000300768"	"HK1"
"0000300769"	"HK1"
"0000300770"	"HK1"
"0000300771"	"HK1"
"0000300772"	"HK1"
"0000300773"	"HK1"
"0000300774"	"HK1"
"0000300775"	"HK1"
"0000300776"	"HK1"
"0000300777"	"HK1"
"0000300778"	"HK1"
"0000300779"	"HK1"
"0000378578"	"HK1"
"0000395569"	"HK1"
"0000396835"	"HK1"
"0000397126"	"HK1"
"0000397169"	"HK1"
"0000399079"	"HK1"
"0000411086"	"HK1"
"0000411087"	"HK1"
"0000411088"	"HK1"
"0000411089"	"HK1"
"0000411090"	"HK1"
"0000411091"	"HK1"
"0000411092"	"HK1"
"0000411093"	"HK1"
"0000411094"	"HK1"
"0000411095"	"HK1"
"0000411096"	"HK1"
"0000411097"	"HK1"
"0000411098"	"HK1"
"0000411099"	"HK1"
"0000421772"	"HK1"
"0000421804"	"HK1"
"0000431191"	"HK1"
"0000431466"	"HK1"
"0000431520"	"HK1"
"0000431542"	"HK1"


## 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 = 192
"{{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}}"
"0000246914"	"0"	"10"	"10"	"71103717"	"71103717"	"subst"	"0.000454793"	"02330"	"HK1_000003"	"g.71103717A>T"	""	""	""	"HK1(NM_033500.2):c.162A>T (p.T54=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69343961A>T"	""	"benign"	""
"0000246929"	"0"	"10"	"10"	"71139870"	"71139870"	"subst"	"3.25855E-5"	"02330"	"HK1_000011"	"g.71139870A>G"	""	""	""	"HK1(NM_001322365.1):c.1370+19A>G, HK1(NM_033500.2):c.1229+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69380114A>G"	""	"benign"	""
"0000246930"	"0"	"10"	"10"	"71144256"	"71144256"	"subst"	"0.0183367"	"02330"	"HK1_000002"	"g.71144256A>G"	""	""	""	"HK1(NM_033500.2):c.1683+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69384500A>G"	""	"benign"	""
"0000246944"	"0"	"30"	"10"	"71129309"	"71129309"	"subst"	"2.03039E-5"	"02330"	"HK1_000007"	"g.71129309A>T"	""	""	""	"HK1(NM_033500.2):c.768A>T (p.G256=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69369553A>T"	""	"likely benign"	""
"0000277652"	"0"	"10"	"10"	"71048496"	"71048496"	"subst"	"4.06088E-6"	"02330"	"HK1_000023"	"g.71048496C>A"	""	""	""	"HK1(NM_033500.2):c.-145C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69288740C>A"	""	"benign"	""
"0000277653"	"0"	"10"	"10"	"71060515"	"71060515"	"subst"	"0"	"02330"	"HK1_000026"	"g.71060515C>G"	""	""	""	"HK1(NM_033500.2):c.-66-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69300759C>G"	""	"benign"	""
"0000277655"	"0"	"10"	"10"	"71055459"	"71055459"	"del"	"0"	"02330"	"HK1_000025"	"g.71055459del"	""	""	""	"HK1(NM_001322365.1):c.168+23delT, HK1(NM_033500.2):c.-67+23delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69295703del"	""	"benign"	""
"0000277656"	"0"	"10"	"10"	"71160897"	"71160897"	"subst"	"0.0211982"	"02330"	"HK1_000020"	"g.71160897C>T"	""	""	""	"HK1(NM_033500.2):c.*6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69401141C>T"	""	"benign"	""
"0000277657"	"0"	"10"	"10"	"71142420"	"71142420"	"subst"	"0.772592"	"02330"	"HK1_000012"	"g.71142420G>A"	""	""	""	"HK1(NM_033500.2):c.1407G>A (p.K469=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69382664G>A"	""	"benign"	""
"0000277658"	"0"	"10"	"10"	"71144198"	"71144198"	"subst"	"0.00029236"	"02330"	"HK1_000013"	"g.71144198C>T"	""	""	""	"HK1(NM_033500.2):c.1644C>T (p.Y548=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69384442C>T"	""	"benign"	""
"0000277659"	"0"	"10"	"10"	"71151885"	"71151885"	"subst"	"0.0206103"	"02330"	"HK1_000014"	"g.71151885C>T"	""	""	""	"HK1(NM_033500.2):c.2004C>T (p.T668=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69392129C>T"	""	"benign"	""
"0000277660"	"0"	"10"	"10"	"71152072"	"71152072"	"subst"	"1.21865E-5"	"02330"	"HK1_000015"	"g.71152072C>T"	""	""	""	"HK1(NM_001322365.1):c.2324+8C>T, HK1(NM_033500.2):c.2183+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69392316C>T"	""	"benign"	""
"0000277661"	"0"	"50"	"10"	"71158356"	"71158356"	"subst"	"0"	"02330"	"HK1_000016"	"g.71158356G>A"	""	""	""	"HK1(NM_033500.2):c.2345G>A (p.R782Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69398600G>A"	""	"VUS"	""
"0000277662"	"0"	"30"	"10"	"71158441"	"71158441"	"subst"	"0.000223387"	"02330"	"HK1_000017"	"g.71158441G>T"	""	""	""	"HK1(NM_001322365.1):c.2571G>T (p.V857=), HK1(NM_033500.2):c.2430G>T (p.V810=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69398685G>T"	""	"likely benign"	""
"0000277663"	"0"	"10"	"10"	"71160734"	"71160734"	"subst"	"0.00278862"	"02330"	"HK1_000018"	"g.71160734T>A"	""	""	""	"HK1(NM_001322365.1):c.2715-13T>A, HK1(NM_033500.2):c.2574-13T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69400978T>A"	""	"benign"	""
"0000277664"	"0"	"10"	"10"	"71160828"	"71160828"	"subst"	"0.0223035"	"02330"	"HK1_000019"	"g.71160828C>T"	""	""	""	"HK1(NM_033500.2):c.2655C>T (p.S885=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69401072C>T"	""	"benign"	""
"0000277665"	"0"	"10"	"10"	"71060634"	"71060634"	"subst"	"0.910015"	"02330"	"HK1_000028"	"g.71060634G>A"	""	""	""	"HK1(NM_033500.2):c.27+17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69300878G>A"	""	"benign"	""
"0000277666"	"0"	"10"	"10"	"71060621"	"71060621"	"subst"	"0.112311"	"02330"	"HK1_000027"	"g.71060621C>T"	""	""	""	"HK1(NM_033500.2):c.27+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69300865C>T"	""	"benign"	""
"0000277667"	"0"	"10"	"10"	"71103597"	"71103597"	"subst"	"0.314316"	"02330"	"HK1_000001"	"g.71103597C>G"	""	""	""	"HK1(NM_033500.2):c.42C>G (p.L14=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69343841C>G"	""	"benign"	""
"0000277668"	"0"	"30"	"10"	"71128330"	"71128330"	"subst"	"0.000548228"	"02330"	"HK1_000004"	"g.71128330C>T"	""	""	""	"HK1(NM_001322365.1):c.639C>T (p.S213=), HK1(NM_001322365.2):c.639C>T (p.S213=), HK1(NM_033500.2):c.498C>T (p.S166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69368574C>T"	""	"likely benign"	""
"0000277669"	"0"	"10"	"10"	"71129105"	"71129105"	"subst"	"0.00423151"	"02330"	"HK1_000005"	"g.71129105C>T"	""	""	""	"HK1(NM_033500.2):c.655+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69369349C>T"	""	"benign"	""
"0000277670"	"0"	"10"	"10"	"71129194"	"71129194"	"subst"	"0.0305281"	"02330"	"HK1_000006"	"g.71129194C>T"	""	""	""	"HK1(NM_033500.2):c.656-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69369438C>T"	""	"benign"	""
"0000277671"	"0"	"10"	"10"	"71129333"	"71129333"	"subst"	"0.00219288"	"02330"	"HK1_000008"	"g.71129333G>A"	""	""	""	"HK1(NM_001322365.1):c.933G>A (p.E311=), HK1(NM_033500.2):c.792G>A (p.E264=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69369577G>A"	""	"benign"	""
"0000277672"	"0"	"30"	"10"	"71136674"	"71136674"	"subst"	"0.000247704"	"02330"	"HK1_000009"	"g.71136674G>T"	""	""	""	"HK1(NM_033500.2):c.840-16G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69376918G>T"	""	"likely benign"	""
"0000277673"	"0"	"10"	"10"	"71136782"	"71136782"	"subst"	"1.21817E-5"	"02330"	"HK1_000010"	"g.71136782G>A"	""	""	""	"HK1(NM_033500.2):c.932G>A (p.R311Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69377026G>A"	""	"benign"	""
"0000281306"	"0"	"10"	"10"	"71142420"	"71142420"	"subst"	"0.772592"	"02325"	"HK1_000012"	"g.71142420G>A"	""	""	""	"HK1(NM_033500.2):c.1407G>A (p.K469=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69382664G>A"	""	"benign"	""
"0000281307"	"0"	"10"	"10"	"71060634"	"71060634"	"subst"	"0.910015"	"02325"	"HK1_000028"	"g.71060634G>A"	""	""	""	"HK1(NM_033500.2):c.27+17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69300878G>A"	""	"benign"	""
"0000289068"	"0"	"30"	"10"	"71128330"	"71128330"	"subst"	"0.000548228"	"01943"	"HK1_000004"	"g.71128330C>T"	""	""	""	"HK1(NM_001322365.1):c.639C>T (p.S213=), HK1(NM_001322365.2):c.639C>T (p.S213=), HK1(NM_033500.2):c.498C>T (p.S166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69368574C>T"	""	"likely benign"	""
"0000289069"	"0"	"30"	"10"	"71129333"	"71129333"	"subst"	"0.00219288"	"01943"	"HK1_000008"	"g.71129333G>A"	""	""	""	"HK1(NM_001322365.1):c.933G>A (p.E311=), HK1(NM_033500.2):c.792G>A (p.E264=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69369577G>A"	""	"likely benign"	""
"0000455083"	"3"	"70"	"10"	"71038467"	"71038467"	"subst"	"0"	"00006"	"HK1_000021"	"g.71038467G>C"	""	"{PMID:Hantke 2009:19536174}"	""	"19589622G>A"	"homozygosity mapping, gene sequencing; not in 233 controls (Bulgaria); functional consequences not known"	"Germline"	"yes"	"rs397514654"	"0"	""	""	"g.69278711G>C"	""	"likely pathogenic (recessive)"	""
"0000455084"	"3"	"30"	"10"	"71039782"	"71039782"	"subst"	"0"	"00006"	"HK1_000022"	"g.71039782G>A"	""	"{PMID:Hantke 2009:19536174}"	""	"19590937G>A"	"variant not conserved"	"Germline"	"yes"	""	"0"	""	""	"g.69280026G>A"	""	"likely benign"	""
"0000455086"	"1"	"70"	"10"	"71038467"	"71038467"	"subst"	"0"	"00006"	"HK1_000021"	"g.71038467G>C"	"5/790 control individuals"	"{PMID:Hantke 2009:19536174}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69278711G>C"	""	"likely pathogenic (recessive)"	""
"0000476974"	"0"	"50"	"10"	"71060610"	"71060610"	"subst"	"0.909803"	"02591"	"HK1_000029"	"g.71060610A>G"	"5/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs906220"	"0"	""	""	"g.69300854A>G"	""	"VUS"	""
"0000476975"	"0"	"50"	"10"	"71060621"	"71060621"	"subst"	"0.112311"	"02591"	"HK1_000027"	"g.71060621C>T"	"589/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1108272"	"0"	""	""	"g.69300865C>T"	""	"VUS"	""
"0000476976"	"0"	"50"	"10"	"71119778"	"71119778"	"subst"	"0"	"02591"	"HK1_000030"	"g.71119778A>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69360022A>G"	""	"VUS"	""
"0000476977"	"0"	"50"	"10"	"71124572"	"71124572"	"subst"	"0"	"02591"	"HK1_000031"	"g.71124572T>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69364816T>A"	""	"VUS"	""
"0000476978"	"0"	"50"	"10"	"71129194"	"71129194"	"subst"	"0.0305281"	"02591"	"HK1_000006"	"g.71129194C>T"	"270/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs41279656"	"0"	""	""	"g.69369438C>T"	""	"VUS"	""
"0000476979"	"0"	"50"	"10"	"71139706"	"71139706"	"subst"	"1.21817E-5"	"02591"	"HK1_000032"	"g.71139706G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs761213475"	"0"	""	""	"g.69379950G>A"	""	"VUS"	""
"0000476980"	"0"	"50"	"10"	"71139782"	"71139782"	"subst"	"0"	"02591"	"HK1_000033"	"g.71139782A>G"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69380026A>G"	""	"VUS"	""
"0000476981"	"0"	"50"	"10"	"71142304"	"71142304"	"subst"	"8.12367E-6"	"02591"	"HK1_000034"	"g.71142304C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs774586043"	"0"	""	""	"g.69382548C>T"	""	"VUS"	""
"0000476982"	"0"	"50"	"10"	"71146158"	"71146158"	"subst"	"0"	"02591"	"HK1_000035"	"g.71146158C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69386402C>T"	""	"VUS"	""
"0000476983"	"0"	"50"	"10"	"71158440"	"71158440"	"subst"	"0"	"02591"	"HK1_000036"	"g.71158440T>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69398684T>C"	""	"VUS"	""
"0000476984"	"0"	"50"	"10"	"71160871"	"71160871"	"subst"	"8.14206E-6"	"02591"	"HK1_000037"	"g.71160871C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs761964067"	"0"	""	""	"g.69401115C>T"	""	"VUS"	""
"0000477575"	"3"	"50"	"10"	"71060610"	"71060610"	"subst"	"0.909803"	"02591"	"HK1_000029"	"g.71060610A>G"	"1198/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs906220"	"0"	""	""	"g.69300854A>G"	""	"VUS"	""
"0000477576"	"3"	"50"	"10"	"71060621"	"71060621"	"subst"	"0.112311"	"02591"	"HK1_000027"	"g.71060621C>T"	"266/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs1108272"	"0"	""	""	"g.69300865C>T"	""	"VUS"	""
"0000477577"	"3"	"50"	"10"	"71129194"	"71129194"	"subst"	"0.0305281"	"02591"	"HK1_000006"	"g.71129194C>T"	"27/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs41279656"	"0"	""	""	"g.69369438C>T"	""	"VUS"	""
"0000540528"	"0"	"10"	"10"	"71052083"	"71052083"	"subst"	"0.485076"	"02330"	"HK1_000038"	"g.71052083C>T"	""	""	""	"HK1(NM_033500.2):c.-114-3306C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69292327C>T"	""	"benign"	""
"0000540529"	"0"	"10"	"10"	"71055389"	"71055389"	"subst"	"0.00273351"	"01943"	"HK1_000039"	"g.71055389G>T"	""	""	""	"HK1(NM_001322365.1):c.121G>T (p.A41S), HK1(NM_001358263.1):c.28G>T (p.A10S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69295633G>T"	""	"benign"	""
"0000540530"	"0"	"50"	"10"	"71055441"	"71055441"	"subst"	"9.76261E-5"	"01943"	"HK1_000040"	"g.71055441G>A"	""	""	""	"HK1(NM_001322365.1):c.168+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69295685G>A"	""	"VUS"	""
"0000540531"	"0"	"10"	"10"	"71055452"	"71055452"	"subst"	"0"	"02330"	"HK1_000041"	"g.71055452T>C"	""	""	""	"HK1(NM_001322365.1):c.168+16T>C, HK1(NM_033500.2):c.-67+16T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69295696T>C"	""	"benign"	""
"0000540532"	"0"	"10"	"10"	"71055459"	"71055459"	"dup"	"0"	"02330"	"HK1_000042"	"g.71055459dup"	""	""	""	"HK1(NM_001322365.1):c.168+23dupT, HK1(NM_033500.2):c.-67+23dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69295703dup"	""	"benign"	""
"0000540533"	"0"	"10"	"10"	"71060610"	"71060610"	"subst"	"0.909803"	"02330"	"HK1_000029"	"g.71060610A>G"	""	""	""	"HK1(NM_033500.2):c.20A>G (p.H7R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69300854A>G"	""	"benign"	""
"0000540534"	"0"	"10"	"10"	"71060610"	"71060610"	"subst"	"0.909803"	"02325"	"HK1_000029"	"g.71060610A>G"	""	""	""	"HK1(NM_033500.2):c.20A>G (p.H7R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69300854A>G"	""	"benign"	""
"0000540535"	"0"	"10"	"10"	"71103741"	"71103741"	"subst"	"0"	"02330"	"HK1_000043"	"g.71103741C>T"	""	""	""	"HK1(NM_033500.2):c.186C>T (p.G62=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69343985C>T"	""	"benign"	""
"0000540536"	"0"	"10"	"10"	"71119786"	"71119786"	"subst"	"6.90888E-5"	"02330"	"HK1_000044"	"g.71119786C>T"	""	""	""	"HK1(NM_033500.2):c.324C>T (p.H108=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69360030C>T"	""	"benign"	""
"0000540537"	"0"	"30"	"10"	"71128327"	"71128327"	"subst"	"4.46679E-5"	"02330"	"HK1_000045"	"g.71128327G>A"	""	""	""	"HK1(NM_001322365.1):c.636G>A (p.A212=), HK1(NM_033500.2):c.495G>A (p.A165=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69368571G>A"	""	"likely benign"	""
"0000540538"	"0"	"50"	"10"	"71129247"	"71129247"	"subst"	"0"	"01943"	"HK1_000046"	"g.71129247G>C"	""	""	""	"HK1(NM_001322365.1):c.847G>C (p.V283L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69369491G>C"	""	"VUS"	""
"0000540539"	"0"	"30"	"10"	"71129258"	"71129258"	"subst"	"6.90389E-5"	"01943"	"HK1_000047"	"g.71129258C>T"	""	""	""	"HK1(NM_001322365.1):c.858C>T (p.D286=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69369502C>T"	""	"likely benign"	""
"0000540540"	"0"	"50"	"10"	"71129381"	"71129381"	"subst"	"0"	"02330"	"HK1_000048"	"g.71129381G>A"	""	""	""	"HK1(NM_033500.2):c.839+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69369625G>A"	""	"VUS"	""
"0000540541"	"0"	"50"	"10"	"71136821"	"71136821"	"subst"	"0"	"02330"	"HK1_000049"	"g.71136821C>A"	""	""	""	"HK1(NM_033500.2):c.971C>A (p.T324N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69377065C>A"	""	"VUS"	""
"0000540542"	"0"	"90"	"10"	"71142311"	"71142311"	"subst"	"0"	"02327"	"HK1_000050"	"g.71142311C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69382555C>T"	""	"pathogenic"	""
"0000540543"	"0"	"50"	"10"	"71142410"	"71142410"	"subst"	"0.000170965"	"02330"	"HK1_000051"	"g.71142410A>G"	""	""	""	"HK1(NM_001322365.1):c.1538A>G (p.H513R), HK1(NM_033500.2):c.1397A>G (p.H466R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69382654A>G"	""	"VUS"	""
"0000540544"	"0"	"10"	"10"	"71142492"	"71142492"	"subst"	"0.00483846"	"02330"	"HK1_000052"	"g.71142492C>T"	""	""	""	"HK1(NM_033500.2):c.1479C>T (p.N493=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69382736C>T"	""	"benign"	""
"0000540545"	"0"	"10"	"10"	"71149024"	"71149024"	"subst"	"0.00357539"	"02330"	"HK1_000053"	"g.71149024G>A"	""	""	""	"HK1(NM_001322365.1):c.2112G>A (p.E704=), HK1(NM_033500.2):c.1971G>A (p.E657=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69389268G>A"	""	"benign"	""
"0000540546"	"0"	"10"	"10"	"71149024"	"71149024"	"subst"	"0.00357539"	"01943"	"HK1_000053"	"g.71149024G>A"	""	""	""	"HK1(NM_001322365.1):c.2112G>A (p.E704=), HK1(NM_033500.2):c.1971G>A (p.E657=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69389268G>A"	""	"benign"	""
"0000540547"	"0"	"30"	"10"	"71154712"	"71154712"	"subst"	"0.000263987"	"02330"	"HK1_000054"	"g.71154712G>A"	""	""	""	"HK1(NM_033500.2):c.2190G>A (p.E730=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69394956G>A"	""	"likely benign"	""
"0000540548"	"0"	"10"	"10"	"71158414"	"71158414"	"subst"	"9.75229E-5"	"02330"	"HK1_000055"	"g.71158414C>T"	""	""	""	"HK1(NM_033500.2):c.2403C>T (p.C801=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69398658C>T"	""	"benign"	""
"0000540549"	"0"	"30"	"10"	"71158429"	"71158429"	"subst"	"8.53138E-5"	"02330"	"HK1_000056"	"g.71158429C>T"	""	""	""	"HK1(NM_001322365.2):c.2559C>T (p.L853=), HK1(NM_033500.2):c.2418C>T (p.L806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69398673C>T"	""	"likely benign"	""
"0000540550"	"0"	"10"	"10"	"71158513"	"71158513"	"subst"	"0.00344539"	"02330"	"HK1_000057"	"g.71158513C>T"	""	""	""	"HK1(NM_033500.2):c.2502C>T (p.R834=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69398757C>T"	""	"benign"	""
"0000540551"	"0"	"10"	"10"	"71160750"	"71160750"	"subst"	"0.00329431"	"02330"	"HK1_000058"	"g.71160750C>T"	""	""	""	"HK1(NM_033500.2):c.2577C>T (p.F859=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69400994C>T"	""	"benign"	""
"0000612589"	"0"	"30"	"10"	"71078739"	"71078739"	"subst"	"0"	"02330"	"HK1_000059"	"g.71078739G>T"	""	""	""	"HK1(NM_000188.3):c.36G>T (p.T12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69318983G>T"	""	"likely benign"	""
"0000612590"	"0"	"30"	"10"	"71139822"	"71139822"	"subst"	"4.06177E-5"	"02330"	"HK1_000061"	"g.71139822C>T"	""	""	""	"HK1(NM_001322365.1):c.1341C>T (p.V447=), HK1(NM_033500.2):c.1200C>T (p.V400=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69380066C>T"	""	"likely benign"	""
"0000612591"	"0"	"30"	"10"	"71154790"	"71154790"	"subst"	"1.62463E-5"	"02330"	"HK1_000062"	"g.71154790C>T"	""	""	""	"HK1(NM_033500.2):c.2268C>T (p.F756=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69395034C>T"	""	"likely benign"	""
"0000612592"	"0"	"30"	"10"	"71158532"	"71158532"	"subst"	"0"	"01943"	"HK1_000063"	"g.71158532C>G"	""	""	""	"HK1(NM_001322365.1):c.2662C>G (p.R888G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69398776C>G"	""	"likely benign"	""
"0000612593"	"0"	"30"	"10"	"71160771"	"71160771"	"subst"	"9.74714E-5"	"02326"	"HK1_000064"	"g.71160771G>A"	""	""	""	"HK1(NM_001322365.1):c.2739G>A (p.T913=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69401015G>A"	""	"likely benign"	""
"0000622406"	"0"	"30"	"10"	"71119633"	"71119633"	"subst"	"0"	"02330"	"HK1_000060"	"g.71119633C>T"	""	""	""	"HK1(NM_001322365.2):c.332-20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69359877C>T"	""	"likely benign"	""
"0000656527"	"0"	"30"	"10"	"71048555"	"71048558"	"dup"	"0"	"02330"	"HK1_000065"	"g.71048555_71048558dup"	""	""	""	"HK1(NM_001358263.1):c.27+26_27+29dupTTTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69288799_69288802dup"	""	"likely benign"	""
"0000656528"	"0"	"30"	"10"	"71055459"	"71055459"	"del"	"0"	"02326"	"HK1_000025"	"g.71055459del"	""	""	""	"HK1(NM_001322365.1):c.168+23delT, HK1(NM_033500.2):c.-67+23delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69295703del"	""	"likely benign"	""
"0000656529"	"0"	"30"	"10"	"71139822"	"71139822"	"subst"	"4.06177E-5"	"01943"	"HK1_000061"	"g.71139822C>T"	""	""	""	"HK1(NM_001322365.1):c.1341C>T (p.V447=), HK1(NM_033500.2):c.1200C>T (p.V400=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69380066C>T"	""	"likely benign"	""
"0000656530"	"0"	"30"	"10"	"71142410"	"71142410"	"subst"	"0.000170965"	"01943"	"HK1_000051"	"g.71142410A>G"	""	""	""	"HK1(NM_001322365.1):c.1538A>G (p.H513R), HK1(NM_033500.2):c.1397A>G (p.H466R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69382654A>G"	""	"likely benign"	""
"0000656531"	"0"	"30"	"10"	"71142456"	"71142456"	"subst"	"3.69237E-5"	"01943"	"HK1_000066"	"g.71142456C>T"	""	""	""	"HK1(NM_001322365.1):c.1584C>T (p.A528=), HK1(NM_001358263.1):c.1491C>T (p.A497=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69382700C>T"	""	"likely benign"	""
"0000656532"	"0"	"30"	"10"	"71160861"	"71160861"	"subst"	"0.000394572"	"02330"	"HK1_000067"	"g.71160861C>T"	""	""	""	"HK1(NM_001322365.2):c.2829C>T (p.G943=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69401105C>T"	""	"likely benign"	""
"0000663642"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663643"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663644"	"3"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663645"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663646"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663647"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663648"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663649"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663650"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663651"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663652"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sullivan 2014:25190649}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663653"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663654"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663655"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663656"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663657"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663658"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663659"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663660"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663661"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663662"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663663"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000663664"	"1"	"90"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Wang 2014:25316723}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"pathogenic (dominant)"	""
"0000678879"	"0"	"30"	"10"	"71055452"	"71055452"	"subst"	"0"	"02326"	"HK1_000041"	"g.71055452T>C"	""	""	""	"HK1(NM_001322365.1):c.168+16T>C, HK1(NM_033500.2):c.-67+16T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678880"	"0"	"30"	"10"	"71124658"	"71124658"	"subst"	"0"	"02330"	"HK1_000069"	"g.71124658G>A"	""	""	""	"HK1(NM_001322365.2):c.600G>A (p.E200=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678881"	"0"	"50"	"10"	"71129359"	"71129359"	"subst"	"0"	"02330"	"HK1_000070"	"g.71129359C>T"	""	""	""	"HK1(NM_001322365.1):c.959C>T (p.S320F), HK1(NM_001322365.2):c.959C>T (p.S320F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678882"	"0"	"50"	"10"	"71129359"	"71129359"	"subst"	"0"	"01943"	"HK1_000070"	"g.71129359C>T"	""	""	""	"HK1(NM_001322365.1):c.959C>T (p.S320F), HK1(NM_001322365.2):c.959C>T (p.S320F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678883"	"0"	"30"	"10"	"71152072"	"71152072"	"subst"	"1.21865E-5"	"01943"	"HK1_000015"	"g.71152072C>T"	""	""	""	"HK1(NM_001322365.1):c.2324+8C>T, HK1(NM_033500.2):c.2183+8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690750"	"0"	"30"	"10"	"71060624"	"71060624"	"subst"	"1.33273E-5"	"02330"	"HK1_000071"	"g.71060624A>C"	""	""	""	"HK1(NM_033500.2):c.27+7A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690751"	"0"	"30"	"10"	"71136852"	"71136852"	"subst"	"0"	"01943"	"HK1_000072"	"g.71136852A>G"	""	""	""	"HK1(NM_001322365.1):c.1136+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722892"	"0"	"50"	"10"	"71052071"	"71052071"	"del"	"0"	"01943"	"HK1_000073"	"g.71052071del"	""	""	""	"HK1(NM_001322365.1):c.85delC (p.L29Sfs*44), HK1(NM_001322365.2):c.85del (p.(Leu29Serfs*44))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722893"	"0"	"10"	"10"	"71124643"	"71124643"	"subst"	"0.00554694"	"02330"	"HK1_000074"	"g.71124643A>G"	""	""	""	"HK1(NM_001322365.2):c.585A>G (p.Q195=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000722894"	"0"	"30"	"10"	"71139813"	"71139813"	"subst"	"3.24892E-5"	"02330"	"HK1_000075"	"g.71139813G>A"	""	""	""	"HK1(NM_001322365.2):c.1332G>A (p.T444=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722895"	"0"	"50"	"10"	"71144155"	"71144155"	"subst"	"2.03028E-5"	"02330"	"HK1_000076"	"g.71144155G>A"	""	""	""	"HK1(NM_001322365.2):c.1742G>A (p.R581H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722896"	"0"	"30"	"10"	"71160734"	"71160734"	"subst"	"0.00278862"	"02326"	"HK1_000018"	"g.71160734T>A"	""	""	""	"HK1(NM_001322365.1):c.2715-13T>A, HK1(NM_033500.2):c.2574-13T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000791427"	"0"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	"1/258"	"{PMID:Martin-Merida 2018:29847639}"	""	"c.2551G>A, p.(Glu851Lys) NM_001322364.1"	"another transcript in publication"	"Germline"	"?"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000804494"	"0"	"30"	"10"	"71142369"	"71142369"	"subst"	"3.65693E-5"	"01943"	"HK1_000077"	"g.71142369C>G"	""	""	""	"HK1(NM_001322365.1):c.1497C>G (p.A499=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804495"	"0"	"50"	"10"	"71144598"	"71144598"	"subst"	"4.06055E-5"	"02330"	"HK1_000078"	"g.71144598T>C"	""	""	""	"HK1(NM_000188.3):c.1766T>C (p.(Met589Thr)), HK1(NM_001322365.2):c.1871T>C (p.M624T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804496"	"0"	"50"	"10"	"71146089"	"71146089"	"subst"	"0"	"01943"	"HK1_000079"	"g.71146089T>C"	""	""	""	"HK1(NM_001322365.1):c.1955T>C (p.I652T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000804497"	"0"	"30"	"10"	"71149024"	"71149024"	"subst"	"0.00357539"	"02326"	"HK1_000053"	"g.71149024G>A"	""	""	""	"HK1(NM_001322365.1):c.2112G>A (p.E704=), HK1(NM_033500.2):c.1971G>A (p.E657=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804498"	"0"	"30"	"10"	"71151990"	"71151990"	"subst"	"8.12183E-6"	"01943"	"HK1_000080"	"g.71151990C>T"	""	""	""	"HK1(NM_001322365.1):c.2250C>T (p.N750=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804499"	"0"	"50"	"10"	"71158493"	"71158493"	"subst"	"0"	"02330"	"HK1_000081"	"g.71158493G>A"	""	""	""	"HK1(NM_001322365.2):c.2623G>A (p.A875T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000826937"	"0"	"70"	"10"	"71129027"	"71129027"	"subst"	"0"	"00000"	"HK1_000082"	"g.71129027A>G"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"HK1 c.626A>G, p.Asp209Gly"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.69369271A>G"	""	"likely pathogenic"	""
"0000828527"	"0"	"90"	"10"	"71142311"	"71142311"	"subst"	"0"	"00000"	"HK1_000050"	"g.71142311C>T"	""	"{PMID:Perea-Romero 2021:34448047}"	""	"HK1, gene that can display both dominant and recessive patterns of inheritance,  c.1346C>T,  p.Ser449Leu, heterozygous"	"different transcript: NM_033497.2(HK1):c.1346C>T, p.(Ser449Leu), homozygous"	"De novo"	"yes"	""	"0"	""	""	"g.69382555C>T"	""	"pathogenic"	"ACMG"
"0000828872"	"0"	"70"	"10"	"71148984"	"71148984"	"subst"	"4.06319E-6"	"00000"	"HK1_000083"	"g.71148984A>G"	""	"{PMID:Chen 2021:43360855}"	""	"HK1 c.[1967A>G];[1967=], V1: c.1967A>G, (p.Asn656Ser)"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.69389228A>G"	""	"likely pathogenic"	"ACMG"
"0000828915"	"0"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Chen 2021:43360855}"	""	"HK1 c.[2551G>A];[2551=], V1: c.2551G>A, (p.Glu851Lys)"	"different transcript: ENST00000264448.6(ALMS1):c.10825_10826del, (p.Arg3609AlafsTer6); heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	"ACMG"
"0000831396"	"3"	"90"	"10"	"71048518"	"71048518"	"subst"	"0"	"04212"	"HK1_000084"	"g.71048518C>T"	""	"{PMID:Kanwal 2021:34193129}"	""	"NM_033498.3:c.19C>T (R7*)"	""	"Germline"	"yes"	""	"0"	""	""	"g.69288762C>T"	""	"pathogenic (recessive)"	""
"0000852534"	"0"	"30"	"10"	"71139870"	"71139870"	"subst"	"3.25855E-5"	"02326"	"HK1_000011"	"g.71139870A>G"	""	""	""	"HK1(NM_001322365.1):c.1370+19A>G, HK1(NM_033500.2):c.1229+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861950"	"0"	"10"	"10"	"71052042"	"71052042"	"subst"	"0.00534891"	"02330"	"HK1_000085"	"g.71052042T>A"	""	""	""	"HK1(NM_001322365.2):c.56T>A (p.L19Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000861951"	"0"	"30"	"10"	"71144209"	"71144209"	"subst"	"8.12123E-6"	"01943"	"HK1_000089"	"g.71144209T>C"	""	""	""	"HK1(NM_001322365.1):c.1796T>C (p.I599T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861952"	"0"	"30"	"10"	"71158441"	"71158441"	"subst"	"0.000223387"	"02326"	"HK1_000017"	"g.71158441G>T"	""	""	""	"HK1(NM_001322365.1):c.2571G>T (p.V857=), HK1(NM_033500.2):c.2430G>T (p.V810=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000868109"	"10"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Yuan 2017:28765615}"	""	"HK1 c.2551G>A, p.E851K"	"different transcript: NM_033497.2(HK1):c.2551G>A, p.(Glu851Lys) = NM_000188.3(HK1):c.2539G>A, p.(Glu847Lys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000868110"	"10"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Yuan 2017:28765615}"	""	"HK1 c.2551G>A, p.E851K"	"different transcript: NM_033497.2(HK1):c.2551G>A, p.(Glu851Lys) = NM_000188.3(HK1):c.2539G>A, p.(Glu847Lys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000868111"	"10"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Yuan 2017:28765615}"	""	"HK1 c.2551G>A, p.E851K"	"different transcript: NM_033497.2(HK1):c.2551G>A, p.(Glu851Lys) = NM_000188.3(HK1):c.2539G>A, p.(Glu847Lys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000868112"	"20"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Yuan 2017:28765615}"	""	"HK1 c.2551G>A, p.E851K"	"different transcript: NM_033497.2(HK1):c.2551G>A, p.(Glu851Lys) = NM_000188.3(HK1):c.2539G>A, p.(Glu847Lys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000868113"	"0"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Yuan 2017:28765615}"	""	"HK1 c.2551G>A, p.E851K"	"different transcript: NM_033497.2(HK1):c.2551G>A, p.(Glu851Lys) = NM_000188.3(HK1):c.2539G>A, p.(Glu847Lys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000868114"	"20"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Yuan 2017:28765615}"	""	"HK1 c.2551G>A, p.E851K"	"different transcript: NM_033497.2(HK1):c.2551G>A, p.(Glu851Lys) = NM_000188.3(HK1):c.2539G>A, p.(Glu847Lys); heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000868118"	"0"	"70"	"10"	"71139827"	"71139827"	"subst"	"0"	"00000"	"HK1_000086"	"g.71139827G>A"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1241G>A, p.(Gly414Glu)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69380071G>A"	""	"likely pathogenic"	""
"0000868119"	"0"	"70"	"10"	"71139838"	"71139838"	"subst"	"0"	"00000"	"HK1_000087"	"g.71139838A>G"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1252A>G, p.(Lys418Glu)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69380082A>G"	""	"likely pathogenic"	""
"0000868120"	"0"	"70"	"10"	"71142311"	"71142311"	"subst"	"0"	"00000"	"HK1_000050"	"g.71142311C>T"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1334C>T, p.(Ser445Leu)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69382555C>T"	""	"likely pathogenic"	""
"0000868121"	"0"	"70"	"10"	"71142311"	"71142311"	"subst"	"0"	"00000"	"HK1_000050"	"g.71142311C>T"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1334C>T, p.(Ser445Leu)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69382555C>T"	""	"likely pathogenic"	""
"0000868122"	"0"	"70"	"10"	"71142347"	"71142347"	"subst"	"0"	"00000"	"HK1_000088"	"g.71142347C>T"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1370C>T, p.(Thr457Met)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69382591C>T"	""	"likely pathogenic"	""
"0000868123"	"0"	"70"	"10"	"71142347"	"71142347"	"subst"	"0"	"00000"	"HK1_000088"	"g.71142347C>T"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1370C>T, p.(Thr457Met)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69382591C>T"	""	"likely pathogenic"	""
"0000868124"	"0"	"70"	"10"	"71142347"	"71142347"	"subst"	"0"	"00000"	"HK1_000088"	"g.71142347C>T"	""	"{PMID:Okur 2019:30778173}"	""	"HK1 c.1370C>T, p.(Thr457Met)"	"de novo heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69382591C>T"	""	"likely pathogenic"	""
"0000868125"	"10"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Sato 2019:31621442}"	""	"HK1 c. 2539G>A, p. E847K"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000889199"	"0"	"10"	"10"	"71038479"	"71038479"	"dup"	"0"	"02330"	"HK1_000090"	"g.71038479dup"	""	""	""	"HK1(NM_001358263.1):c.-258dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000889200"	"0"	"50"	"10"	"71048519"	"71048519"	"subst"	"1.6246E-5"	"02330"	"HK1_000091"	"g.71048519G>A"	""	""	""	"HK1(NM_001322365.2):c.20G>A (p.R7Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889201"	"0"	"50"	"10"	"71129006"	"71129006"	"subst"	"0"	"02329"	"HK1_000092"	"g.71129006A>G"	""	""	""	"HK1(NM_001322365.1):c.710A>G (p.N237S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889202"	"0"	"10"	"10"	"71136851"	"71136851"	"subst"	"0.00408118"	"02330"	"HK1_000093"	"g.71136851T>C"	""	""	""	"HK1(NM_001322365.2):c.1136+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000889203"	"0"	"30"	"10"	"71139678"	"71139678"	"subst"	"8.52736E-5"	"02330"	"HK1_000094"	"g.71139678C>T"	""	""	""	"HK1(NM_001322365.2):c.1197C>T (p.S399=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000889204"	"0"	"50"	"10"	"71142254"	"71142254"	"subst"	"0"	"02325"	"HK1_000095"	"g.71142254G>A"	""	""	""	"HK1(NM_000188.3):c.1277G>A (p.R426H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896562"	"1"	"70"	"10"	"71148984"	"71148984"	"subst"	"4.06319E-6"	"00000"	"HK1_000083"	"g.71148984A>G"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398"	"{PMID:Chen 2021:33608557}"	""	"HK1 c.[1967A>G];[1967=]; p.(Asn656Ser)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.69389228A>G"	""	"likely pathogenic"	""
"0000896605"	"1"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00000"	"HK1_000068"	"g.71158514G>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000109; GnomAD_All: 0.0000119"	"{PMID:Chen 2021:33608557}"	""	"HK1 c.[2551G>A];[2551=]; p.(Glu851Lys)"	"different transcript, NM_001322364.1):c.2551G>A, p.(Glu851Lys)"	"Germline"	"yes"	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	""
"0000913307"	"0"	"70"	"10"	"71139826"	"71139826"	"subst"	"0"	"02327"	"HK1_000096"	"g.71139826G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000913308"	"0"	"30"	"10"	"71142456"	"71142456"	"subst"	"3.69237E-5"	"02330"	"HK1_000066"	"g.71142456C>T"	""	""	""	"HK1(NM_001322365.1):c.1584C>T (p.A528=), HK1(NM_001358263.1):c.1491C>T (p.A497=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916204"	"0"	"90"	"10"	"71160781"	"71160781"	"subst"	"0"	"04436"	"HK1_000097"	"g.71160781G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2644G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916639"	"0"	"90"	"10"	"71160781"	"71160781"	"subst"	"0"	"04436"	"HK1_000097"	"g.71160781G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2644G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916714"	"0"	"90"	"10"	"71160781"	"71160781"	"subst"	"0"	"04436"	"HK1_000097"	"g.71160781G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2644G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916747"	"0"	"90"	"10"	"71160781"	"71160781"	"subst"	"0"	"04436"	"HK1_000097"	"g.71160781G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.2644G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000925175"	"0"	"30"	"10"	"71055389"	"71055389"	"subst"	"0.00273351"	"02330"	"HK1_000039"	"g.71055389G>T"	""	""	""	"HK1(NM_001322365.1):c.121G>T (p.A41S), HK1(NM_001358263.1):c.28G>T (p.A10S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925176"	"0"	"30"	"10"	"71129333"	"71129333"	"subst"	"0.00219288"	"02326"	"HK1_000008"	"g.71129333G>A"	""	""	""	"HK1(NM_001322365.1):c.933G>A (p.E311=), HK1(NM_033500.2):c.792G>A (p.E264=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925177"	"0"	"50"	"10"	"71146133"	"71146133"	"subst"	"1.21817E-5"	"02325"	"HK1_000098"	"g.71146133G>A"	""	""	""	"HK1(NM_000188.3):c.1894G>A (p.D632N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929691"	"0"	"10"	"10"	"71060622"	"71060622"	"subst"	"0.00170503"	"02330"	"HK1_000099"	"g.71060622G>A"	""	""	""	"HK1(NM_033500.2):c.27+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000936014"	"0"	"90"	"10"	"71075744"	"71075744"	"subst"	"2.05088E-5"	"00006"	"HK1_000100"	"g.71075744C>T"	""	"{PMID:Chuan 2022:35571021}"	""	"NM_001322365.1:c.34C>T (R12X)"	"ACMG PVS1,PM2,PP3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.69315988C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000958359"	"0"	"70"	"10"	"71158514"	"71158514"	"subst"	"1.2189E-5"	"00006"	"HK1_000068"	"g.71158514G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.69398758G>A"	""	"likely pathogenic"	"ACMG"
"0000958383"	"1"	"90"	"10"	"71142311"	"71142311"	"subst"	"0"	"00006"	"HK1_000050"	"g.71142311C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.69382555C>T"	"421007"	"pathogenic"	"ACMG"
"0000959019"	"0"	"50"	"10"	"71129032"	"71129032"	"subst"	"0"	"00006"	"HK1_000102"	"g.71129032G>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.69369276G>C"	""	"VUS"	"ACMG"
"0000959047"	"0"	"50"	"10"	"71119676"	"71119676"	"subst"	"0"	"00006"	"HK1_000101"	"g.71119676G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2; no variant 2nd chromosome"	"De novo"	""	""	"0"	""	""	"g.69359920G>A"	""	"VUS"	"ACMG"
"0000965796"	"0"	"30"	"10"	"71048481"	"71048481"	"subst"	"0.00350866"	"02330"	"HK1_000103"	"g.71048481A>C"	""	""	""	"HK1(NM_001358263.1):c.-19A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000971688"	"0"	"90"	"10"	"71142311"	"71142311"	"subst"	"0"	"03779"	"HK1_000050"	"g.71142311C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1064794848"	"0"	""	""	""	""	"pathogenic"	""
"0000979099"	"0"	"30"	"10"	"71075518"	"71075518"	"subst"	"0"	"01804"	"HK1_000104"	"g.71075518A>G"	""	""	""	"HK1(NM_033500.2):c.27+14901A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979100"	"0"	"50"	"10"	"71128310"	"71128310"	"subst"	"0"	"02325"	"HK1_000105"	"g.71128310A>T"	""	""	""	"HK1(NM_000188.3):c.514A>T (p.T172S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979101"	"0"	"50"	"10"	"71142538"	"71142538"	"subst"	"2.53391E-5"	"01804"	"HK1_000106"	"g.71142538G>A"	""	""	""	"HK1(NM_000188.3):c.1561G>A (p.(Asp521Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979102"	"0"	"30"	"10"	"71144071"	"71144071"	"subst"	"0.000467039"	"02330"	"HK1_000107"	"g.71144071C>T"	""	""	""	"HK1(NM_001358263.1):c.1583-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998473"	"0"	"50"	"10"	"71139812"	"71139812"	"subst"	"0"	"01804"	"HK1_000108"	"g.71139812C>T"	""	""	""	"HK1(NM_000188.2):c.1226C>T (p.(Thr409Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998474"	"0"	"50"	"10"	"71144671"	"71144671"	"subst"	"8.1242E-6"	"01804"	"HK1_000109"	"g.71144671G>A"	""	""	""	"HK1(NM_000188.2):c.1839G>A (p.(Ala613Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998475"	"0"	"50"	"10"	"71158553"	"71158553"	"subst"	"4.07166E-6"	"01804"	"HK1_000110"	"g.71158553G>A"	""	""	""	"HK1(NM_000188.2):c.2578G>A (p.(Val860Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014645"	"0"	"30"	"10"	"71055459"	"71055459"	"dup"	"0"	"02326"	"HK1_000042"	"g.71055459dup"	""	""	""	"HK1(NM_001322365.1):c.168+23dupT, HK1(NM_033500.2):c.-67+23dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025760"	"0"	"50"	"10"	"71158360"	"71158360"	"subst"	"0"	"02325"	"HK1_000111"	"g.71158360A>C"	""	""	""	"HK1(NM_000188.3):c.2385A>C (p.L795F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037955"	"0"	"50"	"10"	"71048503"	"71048503"	"subst"	"3.65485E-5"	"01804"	"HK1_000112"	"g.71048503G>A"	""	""	""	"HK1(NM_001322364.2):c.4G>A (p.(Gly2Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037956"	"0"	"30"	"10"	"71052071"	"71052071"	"del"	"0"	"01804"	"HK1_000073"	"g.71052071del"	""	""	""	"HK1(NM_001322365.1):c.85delC (p.L29Sfs*44), HK1(NM_001322365.2):c.85del (p.(Leu29Serfs*44))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037957"	"0"	"30"	"10"	"71052111"	"71052111"	"subst"	"0"	"01804"	"HK1_000113"	"g.71052111G>A"	""	""	""	"HK1(NM_001322365.2):c.120+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037958"	"0"	"50"	"10"	"71075744"	"71075744"	"subst"	"2.05088E-5"	"01804"	"HK1_000100"	"g.71075744C>T"	""	""	""	"HK1(NM_033496.3):c.34C>T (p.(Arg12Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037959"	"0"	"50"	"10"	"71142243"	"71142243"	"subst"	"4.06716E-6"	"02325"	"HK1_000114"	"g.71142243G>T"	""	""	""	"HK1(NM_000188.3):c.1266G>T (p.Q422H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037960"	"0"	"50"	"10"	"71144598"	"71144598"	"subst"	"4.06055E-5"	"01804"	"HK1_000078"	"g.71144598T>C"	""	""	""	"HK1(NM_000188.3):c.1766T>C (p.(Met589Thr)), HK1(NM_001322365.2):c.1871T>C (p.M624T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037961"	"0"	"30"	"10"	"71155251"	"71155251"	"subst"	"0"	"01804"	"HK1_000115"	"g.71155251T>C"	""	""	""	"HK1(NM_000188.3):c.2375+390T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046242"	"0"	"30"	"10"	"71128327"	"71128327"	"subst"	"4.46679E-5"	"02326"	"HK1_000045"	"g.71128327G>A"	""	""	""	"HK1(NM_001322365.1):c.636G>A (p.A212=), HK1(NM_033500.2):c.495G>A (p.A165=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046243"	"0"	"50"	"10"	"71129368"	"71129368"	"subst"	"4.0653E-6"	"02325"	"HK1_000116"	"g.71129368C>T"	""	""	""	"HK1(NM_000188.3):c.863C>T (p.P288L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046244"	"0"	"50"	"10"	"71139779"	"71139779"	"subst"	"1.62435E-5"	"02325"	"HK1_000117"	"g.71139779G>A"	""	""	""	"HK1(NM_000188.3):c.1193G>A (p.R398H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001053567"	"0"	"50"	"10"	"71136790"	"71136790"	"subst"	"0"	"01804"	"HK1_000118"	"g.71136790C>G"	""	""	""	"HK1(NM_000188.3):c.976C>G (p.(Pro326Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes HK1
## Count = 366
"{{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}}"
"0000246914"	"00025404"	"10"	"162"	"0"	"162"	"0"	"c.162A>T"	"r.(?)"	"p.(Thr54=)"	""
"0000246914"	"00009421"	"10"	"198"	"0"	"198"	"0"	"c.198A>T"	"r.(?)"	"p.(Thr66=)"	""
"0000246929"	"00025404"	"10"	"1229"	"19"	"1229"	"19"	"c.1229+19A>G"	"r.(=)"	"p.(=)"	""
"0000246929"	"00009421"	"10"	"1265"	"19"	"1265"	"19"	"c.1265+19A>G"	"r.(=)"	"p.(=)"	""
"0000246930"	"00025404"	"10"	"1683"	"19"	"1683"	"19"	"c.1683+19A>G"	"r.(=)"	"p.(=)"	""
"0000246930"	"00009421"	"10"	"1719"	"19"	"1719"	"19"	"c.1719+19A>G"	"r.(=)"	"p.(=)"	""
"0000246944"	"00025404"	"30"	"768"	"0"	"768"	"0"	"c.768A>T"	"r.(?)"	"p.(Gly256=)"	""
"0000246944"	"00009421"	"30"	"804"	"0"	"804"	"0"	"c.804A>T"	"r.(?)"	"p.(Gly268=)"	""
"0000277652"	"00025404"	"10"	"-145"	"0"	"-145"	"0"	"c.-145C>A"	"r.(?)"	"p.(=)"	""
"0000277652"	"00009421"	"10"	"-30208"	"0"	"-30208"	"0"	"c.-30208C>A"	"r.(?)"	"p.(=)"	""
"0000277653"	"00025404"	"10"	"-66"	"-10"	"-66"	"-10"	"c.-66-10C>G"	"r.(=)"	"p.(=)"	""
"0000277653"	"00009421"	"10"	"-18189"	"0"	"-18189"	"0"	"c.-18189C>G"	"r.(?)"	"p.(=)"	""
"0000277655"	"00025404"	"10"	"-67"	"23"	"-67"	"23"	"c.-67+23del"	"r.(=)"	"p.(=)"	""
"0000277655"	"00009421"	"10"	"-23245"	"0"	"-23245"	"0"	"c.-23245del"	"r.(?)"	"p.(=)"	""
"0000277656"	"00025404"	"10"	"2724"	"0"	"2724"	"0"	"c.*6C>T"	"r.(=)"	"p.(=)"	""
"0000277656"	"00009421"	"10"	"2760"	"0"	"2760"	"0"	"c.*6C>T"	"r.(=)"	"p.(=)"	""
"0000277657"	"00025404"	"10"	"1407"	"0"	"1407"	"0"	"c.1407G>A"	"r.(?)"	"p.(Lys469=)"	""
"0000277657"	"00009421"	"10"	"1443"	"0"	"1443"	"0"	"c.1443G>A"	"r.(?)"	"p.(Lys481=)"	""
"0000277658"	"00025404"	"10"	"1644"	"0"	"1644"	"0"	"c.1644C>T"	"r.(?)"	"p.(Tyr548=)"	""
"0000277658"	"00009421"	"10"	"1680"	"0"	"1680"	"0"	"c.1680C>T"	"r.(?)"	"p.(Tyr560=)"	""
"0000277659"	"00025404"	"10"	"2004"	"0"	"2004"	"0"	"c.2004C>T"	"r.(?)"	"p.(Thr668=)"	""
"0000277659"	"00009421"	"10"	"2040"	"0"	"2040"	"0"	"c.2040C>T"	"r.(?)"	"p.(Thr680=)"	""
"0000277660"	"00025404"	"10"	"2183"	"8"	"2183"	"8"	"c.2183+8C>T"	"r.(=)"	"p.(=)"	""
"0000277660"	"00009421"	"10"	"2219"	"8"	"2219"	"8"	"c.2219+8C>T"	"r.(=)"	"p.(=)"	""
"0000277661"	"00025404"	"50"	"2345"	"0"	"2345"	"0"	"c.2345G>A"	"r.(?)"	"p.(Arg782Gln)"	""
"0000277661"	"00009421"	"50"	"2381"	"0"	"2381"	"0"	"c.2381G>A"	"r.(?)"	"p.(Arg794Gln)"	""
"0000277662"	"00025404"	"30"	"2430"	"0"	"2430"	"0"	"c.2430G>T"	"r.(?)"	"p.(Val810=)"	""
"0000277662"	"00009421"	"30"	"2466"	"0"	"2466"	"0"	"c.2466G>T"	"r.(?)"	"p.(Val822=)"	""
"0000277663"	"00025404"	"10"	"2574"	"-13"	"2574"	"-13"	"c.2574-13T>A"	"r.(=)"	"p.(=)"	""
"0000277663"	"00009421"	"10"	"2610"	"-13"	"2610"	"-13"	"c.2610-13T>A"	"r.(=)"	"p.(=)"	""
"0000277664"	"00025404"	"10"	"2655"	"0"	"2655"	"0"	"c.2655C>T"	"r.(?)"	"p.(Ser885=)"	""
"0000277664"	"00009421"	"10"	"2691"	"0"	"2691"	"0"	"c.2691C>T"	"r.(?)"	"p.(Ser897=)"	""
"0000277665"	"00025404"	"10"	"27"	"17"	"27"	"17"	"c.27+17G>A"	"r.(=)"	"p.(=)"	""
"0000277665"	"00009421"	"10"	"-18070"	"0"	"-18070"	"0"	"c.-18070G>A"	"r.(?)"	"p.(=)"	""
"0000277666"	"00025404"	"10"	"27"	"4"	"27"	"4"	"c.27+4C>T"	"r.spl?"	"p.?"	""
"0000277666"	"00009421"	"10"	"-18083"	"0"	"-18083"	"0"	"c.-18083C>T"	"r.(?)"	"p.(=)"	""
"0000277667"	"00025404"	"10"	"42"	"0"	"42"	"0"	"c.42C>G"	"r.(?)"	"p.(Leu14=)"	""
"0000277667"	"00009421"	"10"	"78"	"0"	"78"	"0"	"c.78C>G"	"r.(?)"	"p.(Leu26=)"	""
"0000277668"	"00025404"	"30"	"498"	"0"	"498"	"0"	"c.498C>T"	"r.(?)"	"p.(Ser166=)"	""
"0000277668"	"00009421"	"30"	"534"	"0"	"534"	"0"	"c.534C>T"	"r.(?)"	"p.(Ser178=)"	""
"0000277669"	"00025404"	"10"	"655"	"13"	"655"	"13"	"c.655+13C>T"	"r.(=)"	"p.(=)"	""
"0000277669"	"00009421"	"10"	"691"	"13"	"691"	"13"	"c.691+13C>T"	"r.(=)"	"p.(=)"	""
"0000277670"	"00025404"	"10"	"656"	"-3"	"656"	"-3"	"c.656-3C>T"	"r.spl?"	"p.?"	""
"0000277670"	"00009421"	"10"	"692"	"-3"	"692"	"-3"	"c.692-3C>T"	"r.spl?"	"p.?"	""
"0000277671"	"00025404"	"10"	"792"	"0"	"792"	"0"	"c.792G>A"	"r.(?)"	"p.(Glu264=)"	""
"0000277671"	"00009421"	"10"	"828"	"0"	"828"	"0"	"c.828G>A"	"r.(?)"	"p.(Glu276=)"	""
"0000277672"	"00025404"	"30"	"840"	"-16"	"840"	"-16"	"c.840-16G>T"	"r.(=)"	"p.(=)"	""
"0000277672"	"00009421"	"30"	"876"	"-16"	"876"	"-16"	"c.876-16G>T"	"r.(=)"	"p.(=)"	""
"0000277673"	"00025404"	"10"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Arg311Gln)"	""
"0000277673"	"00009421"	"10"	"968"	"0"	"968"	"0"	"c.968G>A"	"r.(?)"	"p.(Arg323Gln)"	""
"0000281306"	"00025404"	"10"	"1407"	"0"	"1407"	"0"	"c.1407G>A"	"r.(?)"	"p.(Lys469=)"	""
"0000281306"	"00009421"	"10"	"1443"	"0"	"1443"	"0"	"c.1443G>A"	"r.(?)"	"p.(Lys481=)"	""
"0000281307"	"00025404"	"10"	"27"	"17"	"27"	"17"	"c.27+17G>A"	"r.(=)"	"p.(=)"	""
"0000281307"	"00009421"	"10"	"-18070"	"0"	"-18070"	"0"	"c.-18070G>A"	"r.(?)"	"p.(=)"	""
"0000289068"	"00025404"	"30"	"498"	"0"	"498"	"0"	"c.498C>T"	"r.(?)"	"p.(Ser166=)"	""
"0000289068"	"00009421"	"30"	"534"	"0"	"534"	"0"	"c.534C>T"	"r.(?)"	"p.(Ser178=)"	""
"0000289069"	"00025404"	"30"	"792"	"0"	"792"	"0"	"c.792G>A"	"r.(?)"	"p.(Glu264=)"	""
"0000289069"	"00009421"	"30"	"828"	"0"	"828"	"0"	"c.828G>A"	"r.(?)"	"p.(Glu276=)"	""
"0000455083"	"00009421"	"70"	"-40237"	"0"	"-40237"	"0"	"c.-40237G>C"	"r.?"	"p.?"	""
"0000455084"	"00009421"	"30"	"-38922"	"0"	"-38922"	"0"	"c.-38922G>A"	"r.(=)"	"p.(=)"	""
"0000455086"	"00009421"	"70"	"-40237"	"0"	"-40237"	"0"	"c.-40237G>C"	"r.?"	"p.?"	""
"0000476974"	"00025404"	"50"	"20"	"0"	"20"	"0"	"c.20A>G"	"r.(?)"	"p.(His7Arg)"	""
"0000476975"	"00025404"	"50"	"27"	"4"	"27"	"4"	"c.27+4C>T"	"r.spl?"	"p.?"	""
"0000476976"	"00025404"	"50"	"316"	"0"	"316"	"0"	"c.316A>G"	"r.(?)"	"p.(Ile106Val)"	""
"0000476976"	"00009421"	"50"	"352"	"0"	"352"	"0"	"c.352A>G"	"r.(?)"	"p.(Ile118Val)"	""
"0000476977"	"00025404"	"50"	"373"	"0"	"373"	"0"	"c.373T>A"	"r.(?)"	"p.(Phe125Ile)"	""
"0000476977"	"00009421"	"50"	"409"	"0"	"409"	"0"	"c.409T>A"	"r.(?)"	"p.(Phe137Ile)"	""
"0000476978"	"00025404"	"50"	"656"	"-3"	"656"	"-3"	"c.656-3C>T"	"r.spl?"	"p.?"	""
"0000476978"	"00009421"	"50"	"692"	"-3"	"692"	"-3"	"c.692-3C>T"	"r.spl?"	"p.?"	""
"0000476979"	"00025404"	"50"	"1084"	"0"	"1084"	"0"	"c.1084G>A"	"r.(?)"	"p.(Val362Ile)"	""
"0000476979"	"00009421"	"50"	"1120"	"0"	"1120"	"0"	"c.1120G>A"	"r.(?)"	"p.(Val374Ile)"	""
"0000476980"	"00025404"	"50"	"1160"	"0"	"1160"	"0"	"c.1160A>G"	"r.(?)"	"p.(Asp387Gly)"	""
"0000476980"	"00009421"	"50"	"1196"	"0"	"1196"	"0"	"c.1196A>G"	"r.(?)"	"p.(Asp399Gly)"	""
"0000476981"	"00025404"	"50"	"1291"	"0"	"1291"	"0"	"c.1291C>T"	"r.(?)"	"p.(Leu431Phe)"	""
"0000476981"	"00009421"	"50"	"1327"	"0"	"1327"	"0"	"c.1327C>T"	"r.(?)"	"p.(Leu443Phe)"	""
"0000476982"	"00025404"	"50"	"1883"	"0"	"1883"	"0"	"c.1883C>T"	"r.(?)"	"p.(Ala628Val)"	""
"0000476982"	"00009421"	"50"	"1919"	"0"	"1919"	"0"	"c.1919C>T"	"r.(?)"	"p.(Ala640Val)"	""
"0000476983"	"00025404"	"50"	"2429"	"0"	"2429"	"0"	"c.2429T>C"	"r.(?)"	"p.(Val810Ala)"	""
"0000476983"	"00009421"	"50"	"2465"	"0"	"2465"	"0"	"c.2465T>C"	"r.(?)"	"p.(Val822Ala)"	""
"0000476984"	"00025404"	"50"	"2698"	"0"	"2698"	"0"	"c.2698C>T"	"r.(?)"	"p.(Arg900Cys)"	""
"0000476984"	"00009421"	"50"	"2734"	"0"	"2734"	"0"	"c.2734C>T"	"r.(?)"	"p.(Arg912Cys)"	""
"0000477575"	"00025404"	"50"	"20"	"0"	"20"	"0"	"c.20A>G"	"r.(?)"	"p.(His7Arg)"	""
"0000477576"	"00025404"	"50"	"27"	"4"	"27"	"4"	"c.27+4C>T"	"r.spl?"	"p.?"	""
"0000477577"	"00025404"	"50"	"656"	"-3"	"656"	"-3"	"c.656-3C>T"	"r.spl?"	"p.?"	""
"0000477577"	"00009421"	"50"	"692"	"-3"	"692"	"-3"	"c.692-3C>T"	"r.spl?"	"p.?"	""
"0000540528"	"00025404"	"10"	"-114"	"-3306"	"-114"	"-3306"	"c.-114-3306C>T"	"r.(=)"	"p.(=)"	""
"0000540528"	"00009421"	"10"	"-26621"	"0"	"-26621"	"0"	"c.-26621C>T"	"r.(?)"	"p.(=)"	""
"0000540529"	"00025404"	"10"	"-114"	"0"	"-114"	"0"	"c.-114G>T"	"r.(?)"	"p.(=)"	""
"0000540529"	"00009421"	"10"	"-23315"	"0"	"-23315"	"0"	"c.-23315G>T"	"r.(?)"	"p.(=)"	""
"0000540530"	"00025404"	"50"	"-67"	"5"	"-67"	"5"	"c.-67+5G>A"	"r.spl?"	"p.?"	""
"0000540530"	"00009421"	"50"	"-23263"	"0"	"-23263"	"0"	"c.-23263G>A"	"r.(?)"	"p.(=)"	""
"0000540531"	"00025404"	"10"	"-67"	"16"	"-67"	"16"	"c.-67+16T>C"	"r.(=)"	"p.(=)"	""
"0000540531"	"00009421"	"10"	"-23252"	"0"	"-23252"	"0"	"c.-23252T>C"	"r.(?)"	"p.(=)"	""
"0000540532"	"00025404"	"10"	"-67"	"23"	"-67"	"23"	"c.-67+23dup"	"r.(=)"	"p.(=)"	""
"0000540532"	"00009421"	"10"	"-23245"	"0"	"-23245"	"0"	"c.-23245dup"	"r.(?)"	"p.(=)"	""
"0000540533"	"00025404"	"10"	"20"	"0"	"20"	"0"	"c.20A>G"	"r.(?)"	"p.(His7Arg)"	""
"0000540533"	"00009421"	"10"	"-18094"	"0"	"-18094"	"0"	"c.-18094A>G"	"r.(?)"	"p.(=)"	""
"0000540534"	"00025404"	"10"	"20"	"0"	"20"	"0"	"c.20A>G"	"r.(?)"	"p.(His7Arg)"	""
"0000540534"	"00009421"	"10"	"-18094"	"0"	"-18094"	"0"	"c.-18094A>G"	"r.(?)"	"p.(=)"	""
"0000540535"	"00025404"	"10"	"186"	"0"	"186"	"0"	"c.186C>T"	"r.(?)"	"p.(Gly62=)"	""
"0000540535"	"00009421"	"10"	"222"	"0"	"222"	"0"	"c.222C>T"	"r.(?)"	"p.(Gly74=)"	""
"0000540536"	"00025404"	"10"	"324"	"0"	"324"	"0"	"c.324C>T"	"r.(?)"	"p.(His108=)"	""
"0000540536"	"00009421"	"10"	"360"	"0"	"360"	"0"	"c.360C>T"	"r.(?)"	"p.(His120=)"	""
"0000540537"	"00025404"	"30"	"495"	"0"	"495"	"0"	"c.495G>A"	"r.(?)"	"p.(Ala165=)"	""
"0000540537"	"00009421"	"30"	"531"	"0"	"531"	"0"	"c.531G>A"	"r.(?)"	"p.(Ala177=)"	""
"0000540538"	"00025404"	"50"	"706"	"0"	"706"	"0"	"c.706G>C"	"r.(?)"	"p.(Val236Leu)"	""
"0000540538"	"00009421"	"50"	"742"	"0"	"742"	"0"	"c.742G>C"	"r.(?)"	"p.(Val248Leu)"	""
"0000540539"	"00025404"	"30"	"717"	"0"	"717"	"0"	"c.717C>T"	"r.(?)"	"p.(Asp239=)"	""
"0000540539"	"00009421"	"30"	"753"	"0"	"753"	"0"	"c.753C>T"	"r.(?)"	"p.(Asp251=)"	""
"0000540540"	"00025404"	"50"	"839"	"1"	"839"	"1"	"c.839+1G>A"	"r.spl?"	"p.?"	""
"0000540540"	"00009421"	"50"	"875"	"1"	"875"	"1"	"c.875+1G>A"	"r.spl?"	"p.?"	""
"0000540541"	"00025404"	"50"	"971"	"0"	"971"	"0"	"c.971C>A"	"r.(?)"	"p.(Thr324Asn)"	""
"0000540541"	"00009421"	"50"	"1007"	"0"	"1007"	"0"	"c.1007C>A"	"r.(?)"	"p.(Thr336Asn)"	""
"0000540542"	"00025404"	"90"	"1298"	"0"	"1298"	"0"	"c.1298C>T"	"r.(?)"	"p.(Ser433Leu)"	""
"0000540542"	"00009421"	"90"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Ser445Leu)"	""
"0000540543"	"00025404"	"50"	"1397"	"0"	"1397"	"0"	"c.1397A>G"	"r.(?)"	"p.(His466Arg)"	""
"0000540543"	"00009421"	"50"	"1433"	"0"	"1433"	"0"	"c.1433A>G"	"r.(?)"	"p.(His478Arg)"	""
"0000540544"	"00025404"	"10"	"1479"	"0"	"1479"	"0"	"c.1479C>T"	"r.(?)"	"p.(Asn493=)"	""
"0000540544"	"00009421"	"10"	"1515"	"0"	"1515"	"0"	"c.1515C>T"	"r.(?)"	"p.(Asn505=)"	""
"0000540545"	"00025404"	"10"	"1971"	"0"	"1971"	"0"	"c.1971G>A"	"r.(?)"	"p.(Glu657=)"	""
"0000540545"	"00009421"	"10"	"2007"	"0"	"2007"	"0"	"c.2007G>A"	"r.(?)"	"p.(Glu669=)"	""
"0000540546"	"00025404"	"10"	"1971"	"0"	"1971"	"0"	"c.1971G>A"	"r.(?)"	"p.(Glu657=)"	""
"0000540546"	"00009421"	"10"	"2007"	"0"	"2007"	"0"	"c.2007G>A"	"r.(?)"	"p.(Glu669=)"	""
"0000540547"	"00025404"	"30"	"2190"	"0"	"2190"	"0"	"c.2190G>A"	"r.(?)"	"p.(Glu730=)"	""
"0000540547"	"00009421"	"30"	"2226"	"0"	"2226"	"0"	"c.2226G>A"	"r.(?)"	"p.(Glu742=)"	""
"0000540548"	"00025404"	"10"	"2403"	"0"	"2403"	"0"	"c.2403C>T"	"r.(?)"	"p.(Cys801=)"	""
"0000540548"	"00009421"	"10"	"2439"	"0"	"2439"	"0"	"c.2439C>T"	"r.(?)"	"p.(Cys813=)"	""
"0000540549"	"00025404"	"30"	"2418"	"0"	"2418"	"0"	"c.2418C>T"	"r.(?)"	"p.(Leu806=)"	""
"0000540549"	"00009421"	"30"	"2454"	"0"	"2454"	"0"	"c.2454C>T"	"r.(?)"	"p.(Leu818=)"	""
"0000540550"	"00025404"	"10"	"2502"	"0"	"2502"	"0"	"c.2502C>T"	"r.(?)"	"p.(Arg834=)"	""
"0000540550"	"00009421"	"10"	"2538"	"0"	"2538"	"0"	"c.2538C>T"	"r.(?)"	"p.(Arg846=)"	""
"0000540551"	"00025404"	"10"	"2577"	"0"	"2577"	"0"	"c.2577C>T"	"r.(?)"	"p.(Phe859=)"	""
"0000540551"	"00009421"	"10"	"2613"	"0"	"2613"	"0"	"c.2613C>T"	"r.(?)"	"p.(Phe871=)"	""
"0000612589"	"00025404"	"30"	"27"	"18122"	"27"	"18122"	"c.27+18122G>T"	"r.(=)"	"p.(=)"	""
"0000612589"	"00009421"	"30"	"36"	"0"	"36"	"0"	"c.36G>T"	"r.(?)"	"p.(Thr12=)"	""
"0000612590"	"00025404"	"30"	"1200"	"0"	"1200"	"0"	"c.1200C>T"	"r.(?)"	"p.(Val400=)"	""
"0000612590"	"00009421"	"30"	"1236"	"0"	"1236"	"0"	"c.1236C>T"	"r.(?)"	"p.(Val412=)"	""
"0000612591"	"00025404"	"30"	"2268"	"0"	"2268"	"0"	"c.2268C>T"	"r.(?)"	"p.(Phe756=)"	""
"0000612591"	"00009421"	"30"	"2304"	"0"	"2304"	"0"	"c.2304C>T"	"r.(?)"	"p.(Phe768=)"	""
"0000612592"	"00025404"	"30"	"2521"	"0"	"2521"	"0"	"c.2521C>G"	"r.(?)"	"p.(Arg841Gly)"	""
"0000612592"	"00009421"	"30"	"2557"	"0"	"2557"	"0"	"c.2557C>G"	"r.(?)"	"p.(Arg853Gly)"	""
"0000612593"	"00025404"	"30"	"2598"	"0"	"2598"	"0"	"c.2598G>A"	"r.(?)"	"p.(Thr866=)"	""
"0000612593"	"00009421"	"30"	"2634"	"0"	"2634"	"0"	"c.2634G>A"	"r.(?)"	"p.(Thr878=)"	""
"0000622406"	"00025404"	"30"	"191"	"-20"	"191"	"-20"	"c.191-20C>T"	"r.(=)"	"p.(=)"	""
"0000622406"	"00009421"	"30"	"227"	"-20"	"227"	"-20"	"c.227-20C>T"	"r.(=)"	"p.(=)"	""
"0000656527"	"00025404"	"30"	"-115"	"29"	"-115"	"32"	"c.-115+29_-115+32dup"	"r.(=)"	"p.(=)"	""
"0000656527"	"00009421"	"30"	"-30149"	"0"	"-30146"	"0"	"c.-30149_-30146dup"	"r.(?)"	"p.(=)"	""
"0000656528"	"00025404"	"30"	"-67"	"23"	"-67"	"23"	"c.-67+23del"	"r.(=)"	"p.(=)"	""
"0000656528"	"00009421"	"30"	"-23245"	"0"	"-23245"	"0"	"c.-23245del"	"r.(?)"	"p.(=)"	""
"0000656529"	"00025404"	"30"	"1200"	"0"	"1200"	"0"	"c.1200C>T"	"r.(?)"	"p.(Val400=)"	""
"0000656529"	"00009421"	"30"	"1236"	"0"	"1236"	"0"	"c.1236C>T"	"r.(?)"	"p.(Val412=)"	""
"0000656530"	"00025404"	"30"	"1397"	"0"	"1397"	"0"	"c.1397A>G"	"r.(?)"	"p.(His466Arg)"	""
"0000656530"	"00009421"	"30"	"1433"	"0"	"1433"	"0"	"c.1433A>G"	"r.(?)"	"p.(His478Arg)"	""
"0000656531"	"00025404"	"30"	"1443"	"0"	"1443"	"0"	"c.1443C>T"	"r.(?)"	"p.(Ala481=)"	""
"0000656531"	"00009421"	"30"	"1479"	"0"	"1479"	"0"	"c.1479C>T"	"r.(?)"	"p.(Ala493=)"	""
"0000656532"	"00025404"	"30"	"2688"	"0"	"2688"	"0"	"c.2688C>T"	"r.(?)"	"p.(Gly896=)"	""
"0000656532"	"00009421"	"30"	"2724"	"0"	"2724"	"0"	"c.2724C>T"	"r.(?)"	"p.(Gly908=)"	""
"0000663642"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663642"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663643"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663643"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663644"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663644"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663645"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663645"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663646"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663646"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663647"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663647"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663648"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663648"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663649"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663649"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663650"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663650"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663651"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663651"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663652"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663652"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663653"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663653"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663654"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663654"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663655"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663655"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663656"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663656"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663657"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663657"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663658"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663658"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663659"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663659"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663660"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663660"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663661"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663661"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663662"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663662"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663663"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663663"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000663664"	"00025404"	"90"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000663664"	"00009421"	"90"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000678879"	"00025404"	"30"	"-67"	"16"	"-67"	"16"	"c.-67+16T>C"	"r.(=)"	"p.(=)"	""
"0000678879"	"00009421"	"30"	"-23252"	"0"	"-23252"	"0"	"c.-23252T>C"	"r.(?)"	"p.(=)"	""
"0000678880"	"00025404"	"30"	"459"	"0"	"459"	"0"	"c.459G>A"	"r.(?)"	"p.(Glu153=)"	""
"0000678880"	"00009421"	"30"	"495"	"0"	"495"	"0"	"c.495G>A"	"r.(?)"	"p.(Glu165=)"	""
"0000678881"	"00025404"	"50"	"818"	"0"	"818"	"0"	"c.818C>T"	"r.(?)"	"p.(Ser273Phe)"	""
"0000678881"	"00009421"	"50"	"854"	"0"	"854"	"0"	"c.854C>T"	"r.(?)"	"p.(Ser285Phe)"	""
"0000678882"	"00025404"	"50"	"818"	"0"	"818"	"0"	"c.818C>T"	"r.(?)"	"p.(Ser273Phe)"	""
"0000678882"	"00009421"	"50"	"854"	"0"	"854"	"0"	"c.854C>T"	"r.(?)"	"p.(Ser285Phe)"	""
"0000678883"	"00025404"	"30"	"2183"	"8"	"2183"	"8"	"c.2183+8C>T"	"r.(=)"	"p.(=)"	""
"0000678883"	"00009421"	"30"	"2219"	"8"	"2219"	"8"	"c.2219+8C>T"	"r.(=)"	"p.(=)"	""
"0000690750"	"00025404"	"30"	"27"	"7"	"27"	"7"	"c.27+7A>C"	"r.(=)"	"p.(=)"	""
"0000690750"	"00009421"	"30"	"-18080"	"0"	"-18080"	"0"	"c.-18080A>C"	"r.(?)"	"p.(=)"	""
"0000690751"	"00025404"	"30"	"995"	"7"	"995"	"7"	"c.995+7A>G"	"r.(=)"	"p.(=)"	""
"0000690751"	"00009421"	"30"	"1031"	"7"	"1031"	"7"	"c.1031+7A>G"	"r.(=)"	"p.(=)"	""
"0000722892"	"00025404"	"50"	"-114"	"-3318"	"-114"	"-3318"	"c.-114-3318del"	"r.(=)"	"p.(=)"	""
"0000722892"	"00009421"	"50"	"-26633"	"0"	"-26633"	"0"	"c.-26633del"	"r.(?)"	"p.(=)"	""
"0000722893"	"00025404"	"10"	"444"	"0"	"444"	"0"	"c.444A>G"	"r.(?)"	"p.(Gln148=)"	""
"0000722893"	"00009421"	"10"	"480"	"0"	"480"	"0"	"c.480A>G"	"r.(?)"	"p.(Gln160=)"	""
"0000722894"	"00025404"	"30"	"1191"	"0"	"1191"	"0"	"c.1191G>A"	"r.(?)"	"p.(Thr397=)"	""
"0000722894"	"00009421"	"30"	"1227"	"0"	"1227"	"0"	"c.1227G>A"	"r.(?)"	"p.(Thr409=)"	""
"0000722895"	"00025404"	"50"	"1601"	"0"	"1601"	"0"	"c.1601G>A"	"r.(?)"	"p.(Arg534His)"	""
"0000722895"	"00009421"	"50"	"1637"	"0"	"1637"	"0"	"c.1637G>A"	"r.(?)"	"p.(Arg546His)"	""
"0000722896"	"00025404"	"30"	"2574"	"-13"	"2574"	"-13"	"c.2574-13T>A"	"r.(=)"	"p.(=)"	""
"0000722896"	"00009421"	"30"	"2610"	"-13"	"2610"	"-13"	"c.2610-13T>A"	"r.(=)"	"p.(=)"	""
"0000791427"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	"17"
"0000804494"	"00025404"	"30"	"1356"	"0"	"1356"	"0"	"c.1356C>G"	"r.(?)"	"p.(Ala452=)"	""
"0000804494"	"00009421"	"30"	"1392"	"0"	"1392"	"0"	"c.1392C>G"	"r.(?)"	"p.(Ala464=)"	""
"0000804495"	"00025404"	"50"	"1730"	"0"	"1730"	"0"	"c.1730T>C"	"r.(?)"	"p.(Met577Thr)"	""
"0000804495"	"00009421"	"50"	"1766"	"0"	"1766"	"0"	"c.1766T>C"	"r.(?)"	"p.(Met589Thr)"	""
"0000804496"	"00025404"	"50"	"1814"	"0"	"1814"	"0"	"c.1814T>C"	"r.(?)"	"p.(Ile605Thr)"	""
"0000804496"	"00009421"	"50"	"1850"	"0"	"1850"	"0"	"c.1850T>C"	"r.(?)"	"p.(Ile617Thr)"	""
"0000804497"	"00025404"	"30"	"1971"	"0"	"1971"	"0"	"c.1971G>A"	"r.(?)"	"p.(Glu657=)"	""
"0000804497"	"00009421"	"30"	"2007"	"0"	"2007"	"0"	"c.2007G>A"	"r.(?)"	"p.(Glu669=)"	""
"0000804498"	"00025404"	"30"	"2109"	"0"	"2109"	"0"	"c.2109C>T"	"r.(?)"	"p.(Asn703=)"	""
"0000804498"	"00009421"	"30"	"2145"	"0"	"2145"	"0"	"c.2145C>T"	"r.(?)"	"p.(Asn715=)"	""
"0000804499"	"00025404"	"50"	"2482"	"0"	"2482"	"0"	"c.2482G>A"	"r.(?)"	"p.(Ala828Thr)"	""
"0000804499"	"00009421"	"50"	"2518"	"0"	"2518"	"0"	"c.2518G>A"	"r.(?)"	"p.(Ala840Thr)"	""
"0000826937"	"00025404"	"70"	"590"	"0"	"590"	"0"	"c.590A>G"	"r.(?)"	"p.(Asp197Gly)"	""
"0000826937"	"00009421"	"70"	"626"	"0"	"626"	"0"	"c.626A>G"	"r.(?)"	"p.(Asp209Gly)"	""
"0000828527"	"00025404"	"90"	"1298"	"0"	"1298"	"0"	"c.1298C>T"	"r.(?)"	"p.(Ser433Leu)"	""
"0000828527"	"00009421"	"90"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Ser445Leu)"	""
"0000828872"	"00025404"	"70"	"1931"	"0"	"1931"	"0"	"c.1931A>G"	"r.(?)"	"p.(Asn644Ser)"	""
"0000828872"	"00009421"	"70"	"1967"	"0"	"1967"	"0"	"c.1967A>G"	"r.(?)"	"p.(Asn656Ser)"	""
"0000828915"	"00025404"	"70"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000828915"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000831396"	"00009421"	"90"	"-30186"	"0"	"-30186"	"0"	"c.-30186C>T"	"r.(=)"	"p.(=)"	""
"0000852534"	"00025404"	"30"	"1229"	"19"	"1229"	"19"	"c.1229+19A>G"	"r.(=)"	"p.(=)"	""
"0000852534"	"00009421"	"30"	"1265"	"19"	"1265"	"19"	"c.1265+19A>G"	"r.(=)"	"p.(=)"	""
"0000861950"	"00025404"	"10"	"-114"	"-3347"	"-114"	"-3347"	"c.-114-3347T>A"	"r.(=)"	"p.(=)"	""
"0000861950"	"00009421"	"10"	"-26662"	"0"	"-26662"	"0"	"c.-26662T>A"	"r.(?)"	"p.(=)"	""
"0000861951"	"00025404"	"30"	"1655"	"0"	"1655"	"0"	"c.1655T>C"	"r.(?)"	"p.(Ile552Thr)"	""
"0000861951"	"00009421"	"30"	"1691"	"0"	"1691"	"0"	"c.1691T>C"	"r.(?)"	"p.(Ile564Thr)"	""
"0000861952"	"00025404"	"30"	"2430"	"0"	"2430"	"0"	"c.2430G>T"	"r.(?)"	"p.(Val810=)"	""
"0000861952"	"00009421"	"30"	"2466"	"0"	"2466"	"0"	"c.2466G>T"	"r.(?)"	"p.(Val822=)"	""
"0000868109"	"00025404"	"70"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000868109"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
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"0000868110"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
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"0000868111"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
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"0000868112"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
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"0000868113"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000868114"	"00025404"	"70"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000868114"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000868118"	"00025404"	"70"	"1205"	"0"	"1205"	"0"	"c.1205G>A"	"r.(?)"	"p.(Gly402Glu)"	""
"0000868118"	"00009421"	"70"	"1241"	"0"	"1241"	"0"	"c.1241G>A"	"r.(?)"	"p.(Gly414Glu)"	""
"0000868119"	"00025404"	"70"	"1216"	"0"	"1216"	"0"	"c.1216A>G"	"r.(?)"	"p.(Lys406Glu)"	""
"0000868119"	"00009421"	"70"	"1252"	"0"	"1252"	"0"	"c.1252A>G"	"r.(?)"	"p.(Lys418Glu)"	""
"0000868120"	"00025404"	"70"	"1298"	"0"	"1298"	"0"	"c.1298C>T"	"r.(?)"	"p.(Ser433Leu)"	""
"0000868120"	"00009421"	"70"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Ser445Leu)"	""
"0000868121"	"00025404"	"70"	"1298"	"0"	"1298"	"0"	"c.1298C>T"	"r.(?)"	"p.(Ser433Leu)"	""
"0000868121"	"00009421"	"70"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Ser445Leu)"	""
"0000868122"	"00025404"	"70"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Thr445Met)"	""
"0000868122"	"00009421"	"70"	"1370"	"0"	"1370"	"0"	"c.1370C>T"	"r.(?)"	"p.(Thr457Met)"	""
"0000868123"	"00025404"	"70"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Thr445Met)"	""
"0000868123"	"00009421"	"70"	"1370"	"0"	"1370"	"0"	"c.1370C>T"	"r.(?)"	"p.(Thr457Met)"	""
"0000868124"	"00025404"	"70"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Thr445Met)"	""
"0000868124"	"00009421"	"70"	"1370"	"0"	"1370"	"0"	"c.1370C>T"	"r.(?)"	"p.(Thr457Met)"	""
"0000868125"	"00025404"	"70"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000868125"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000889199"	"00025404"	"10"	"-390"	"-3806"	"-390"	"-3806"	"c.-390-3806dup"	"r.(=)"	"p.(=)"	""
"0000889199"	"00009421"	"10"	"-40225"	"0"	"-40225"	"0"	"c.-40225dup"	"r.(?)"	"p.(=)"	""
"0000889200"	"00025404"	"50"	"-122"	"0"	"-122"	"0"	"c.-122G>A"	"r.(?)"	"p.(=)"	""
"0000889200"	"00009421"	"50"	"-30185"	"0"	"-30185"	"0"	"c.-30185G>A"	"r.(?)"	"p.(=)"	""
"0000889201"	"00025404"	"50"	"569"	"0"	"569"	"0"	"c.569A>G"	"r.(?)"	"p.(Asn190Ser)"	""
"0000889201"	"00009421"	"50"	"605"	"0"	"605"	"0"	"c.605A>G"	"r.(?)"	"p.(Asn202Ser)"	""
"0000889202"	"00025404"	"10"	"995"	"6"	"995"	"6"	"c.995+6T>C"	"r.(=)"	"p.(=)"	""
"0000889202"	"00009421"	"10"	"1031"	"6"	"1031"	"6"	"c.1031+6T>C"	"r.(=)"	"p.(=)"	""
"0000889203"	"00025404"	"30"	"1056"	"0"	"1056"	"0"	"c.1056C>T"	"r.(?)"	"p.(Ser352=)"	""
"0000889203"	"00009421"	"30"	"1092"	"0"	"1092"	"0"	"c.1092C>T"	"r.(?)"	"p.(Ser364=)"	""
"0000889204"	"00025404"	"50"	"1241"	"0"	"1241"	"0"	"c.1241G>A"	"r.(?)"	"p.(Arg414His)"	""
"0000889204"	"00009421"	"50"	"1277"	"0"	"1277"	"0"	"c.1277G>A"	"r.(?)"	"p.(Arg426His)"	""
"0000896562"	"00025404"	"70"	"1931"	"0"	"1931"	"0"	"c.1931A>G"	"r.(?)"	"p.(Asn644Ser)"	""
"0000896562"	"00009421"	"70"	"1967"	"0"	"1967"	"0"	"c.1967A>G"	"r.(?)"	"p.(Asn656Ser)"	""
"0000896605"	"00025404"	"70"	"2503"	"0"	"2503"	"0"	"c.2503G>A"	"r.(?)"	"p.(Glu835Lys)"	""
"0000896605"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000913307"	"00025404"	"70"	"1204"	"0"	"1204"	"0"	"c.1204G>A"	"r.(?)"	"p.(Gly402Arg)"	""
"0000913307"	"00009421"	"70"	"1240"	"0"	"1240"	"0"	"c.1240G>A"	"r.(?)"	"p.(Gly414Arg)"	""
"0000913308"	"00025404"	"30"	"1443"	"0"	"1443"	"0"	"c.1443C>T"	"r.(?)"	"p.(Ala481=)"	""
"0000913308"	"00009421"	"30"	"1479"	"0"	"1479"	"0"	"c.1479C>T"	"r.(?)"	"p.(Ala493=)"	""
"0000916204"	"00009421"	"90"	"2644"	"0"	"2644"	"0"	"c.2644G>A"	"r.(?)"	"p.(Glu882Lys)"	"18"
"0000916639"	"00009421"	"90"	"2644"	"0"	"2644"	"0"	"c.2644G>A"	"r.(?)"	"p.(Glu882Lys)"	"18"
"0000916714"	"00009421"	"90"	"2644"	"0"	"2644"	"0"	"c.2644G>A"	"r.(?)"	"p.(Glu882Lys)"	"18"
"0000916747"	"00009421"	"90"	"2644"	"0"	"2644"	"0"	"c.2644G>A"	"r.(?)"	"p.(Glu882Lys)"	"18"
"0000925175"	"00025404"	"30"	"-114"	"0"	"-114"	"0"	"c.-114G>T"	"r.(?)"	"p.(=)"	""
"0000925175"	"00009421"	"30"	"-23315"	"0"	"-23315"	"0"	"c.-23315G>T"	"r.(?)"	"p.(=)"	""
"0000925176"	"00025404"	"30"	"792"	"0"	"792"	"0"	"c.792G>A"	"r.(?)"	"p.(Glu264=)"	""
"0000925176"	"00009421"	"30"	"828"	"0"	"828"	"0"	"c.828G>A"	"r.(?)"	"p.(Glu276=)"	""
"0000925177"	"00025404"	"50"	"1858"	"0"	"1858"	"0"	"c.1858G>A"	"r.(?)"	"p.(Asp620Asn)"	""
"0000925177"	"00009421"	"50"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Asp632Asn)"	""
"0000929691"	"00025404"	"10"	"27"	"5"	"27"	"5"	"c.27+5G>A"	"r.spl?"	"p.?"	""
"0000929691"	"00009421"	"10"	"-18082"	"0"	"-18082"	"0"	"c.-18082G>A"	"r.(?)"	"p.(=)"	""
"0000936014"	"00025404"	"90"	"27"	"15127"	"27"	"15127"	"c.27+15127C>T"	"r.(?)"	"p.(=)"	""
"0000936014"	"00009421"	"90"	"-2960"	"0"	"-2960"	"0"	"c.-2960C>T"	"r.(?)"	"p.(=)"	""
"0000958359"	"00009421"	"70"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Glu847Lys)"	""
"0000958383"	"00009421"	"90"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Ser445Leu)"	""
"0000959019"	"00009421"	"50"	"631"	"0"	"631"	"0"	"c.631G>C"	"r.(?)"	"p.(Val211Leu)"	""
"0000959047"	"00009421"	"50"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Asp84Asn)"	""
"0000965796"	"00025404"	"30"	"-160"	"0"	"-160"	"0"	"c.-160A>C"	"r.(?)"	"p.(=)"	""
"0000965796"	"00009421"	"30"	"-30223"	"0"	"-30223"	"0"	"c.-30223A>C"	"r.(?)"	"p.(=)"	""
"0000971688"	"00009421"	"90"	"1334"	"0"	"1334"	"0"	"c.1334C>T"	"r.(?)"	"p.(Ser445Leu)"	""
"0000979099"	"00025404"	"30"	"27"	"14901"	"27"	"14901"	"c.27+14901A>G"	"r.(=)"	"p.(=)"	""
"0000979099"	"00009421"	"30"	"-3186"	"0"	"-3186"	"0"	"c.-3186A>G"	"r.(?)"	"p.(=)"	""
"0000979100"	"00025404"	"50"	"478"	"0"	"478"	"0"	"c.478A>T"	"r.(?)"	"p.(Thr160Ser)"	""
"0000979100"	"00009421"	"50"	"514"	"0"	"514"	"0"	"c.514A>T"	"r.(?)"	"p.(Thr172Ser)"	""
"0000979101"	"00025404"	"50"	"1525"	"0"	"1525"	"0"	"c.1525G>A"	"r.(?)"	"p.(Asp509Asn)"	""
"0000979101"	"00009421"	"50"	"1561"	"0"	"1561"	"0"	"c.1561G>A"	"r.(?)"	"p.(Asp521Asn)"	""
"0000979102"	"00025404"	"30"	"1535"	"-18"	"1535"	"-18"	"c.1535-18C>T"	"r.(=)"	"p.(=)"	""
"0000979102"	"00009421"	"30"	"1571"	"-18"	"1571"	"-18"	"c.1571-18C>T"	"r.(=)"	"p.(=)"	""
"0000998473"	"00025404"	"50"	"1190"	"0"	"1190"	"0"	"c.1190C>T"	"r.(?)"	"p.(Thr397Met)"	""
"0000998473"	"00009421"	"50"	"1226"	"0"	"1226"	"0"	"c.1226C>T"	"r.(?)"	"p.(Thr409Met)"	""
"0000998474"	"00025404"	"50"	"1803"	"0"	"1803"	"0"	"c.1803G>A"	"r.(?)"	"p.(Ala601=)"	""
"0000998474"	"00009421"	"50"	"1839"	"0"	"1839"	"0"	"c.1839G>A"	"r.(?)"	"p.(=)"	""
"0000998475"	"00025404"	"50"	"2542"	"0"	"2542"	"0"	"c.2542G>A"	"r.(?)"	"p.(Val848Met)"	""
"0000998475"	"00009421"	"50"	"2578"	"0"	"2578"	"0"	"c.2578G>A"	"r.(?)"	"p.(Val860Met)"	""
"0001014645"	"00025404"	"30"	"-67"	"23"	"-67"	"23"	"c.-67+23dup"	"r.(=)"	"p.(=)"	""
"0001014645"	"00009421"	"30"	"-23245"	"0"	"-23245"	"0"	"c.-23245dup"	"r.(?)"	"p.(=)"	""
"0001025760"	"00025404"	"50"	"2349"	"0"	"2349"	"0"	"c.2349A>C"	"r.(?)"	"p.(Leu783Phe)"	""
"0001025760"	"00009421"	"50"	"2385"	"0"	"2385"	"0"	"c.2385A>C"	"r.(?)"	"p.(Leu795Phe)"	""
"0001037955"	"00025404"	"50"	"-138"	"0"	"-138"	"0"	"c.-138G>A"	"r.(?)"	"p.(=)"	""
"0001037955"	"00009421"	"50"	"-30201"	"0"	"-30201"	"0"	"c.-30201G>A"	"r.(?)"	"p.(=)"	""
"0001037956"	"00025404"	"30"	"-114"	"-3318"	"-114"	"-3318"	"c.-114-3318del"	"r.(=)"	"p.(=)"	""
"0001037956"	"00009421"	"30"	"-26633"	"0"	"-26633"	"0"	"c.-26633del"	"r.(?)"	"p.(=)"	""
"0001037957"	"00025404"	"30"	"-114"	"-3278"	"-114"	"-3278"	"c.-114-3278G>A"	"r.(=)"	"p.(=)"	""
"0001037957"	"00009421"	"30"	"-26593"	"0"	"-26593"	"0"	"c.-26593G>A"	"r.(?)"	"p.(=)"	""
"0001037958"	"00025404"	"50"	"27"	"15127"	"27"	"15127"	"c.27+15127C>T"	"r.(=)"	"p.(=)"	""
"0001037958"	"00009421"	"50"	"-2960"	"0"	"-2960"	"0"	"c.-2960C>T"	"r.(?)"	"p.(=)"	""
"0001037959"	"00025404"	"50"	"1230"	"0"	"1230"	"0"	"c.1230G>T"	"r.(?)"	"p.(Gln410His)"	""
"0001037959"	"00009421"	"50"	"1266"	"0"	"1266"	"0"	"c.1266G>T"	"r.(?)"	"p.(Gln422His)"	""
"0001037960"	"00025404"	"50"	"1730"	"0"	"1730"	"0"	"c.1730T>C"	"r.(?)"	"p.(Met577Thr)"	""
"0001037960"	"00009421"	"50"	"1766"	"0"	"1766"	"0"	"c.1766T>C"	"r.(?)"	"p.(Met589Thr)"	""
"0001037961"	"00025404"	"30"	"2339"	"390"	"2339"	"390"	"c.2339+390T>C"	"r.(=)"	"p.(=)"	""
"0001037961"	"00009421"	"30"	"2375"	"390"	"2375"	"390"	"c.2375+390T>C"	"r.(=)"	"p.(=)"	""
"0001046242"	"00025404"	"30"	"495"	"0"	"495"	"0"	"c.495G>A"	"r.(?)"	"p.(Ala165=)"	""
"0001046242"	"00009421"	"30"	"531"	"0"	"531"	"0"	"c.531G>A"	"r.(?)"	"p.(Ala177=)"	""
"0001046243"	"00025404"	"50"	"827"	"0"	"827"	"0"	"c.827C>T"	"r.(?)"	"p.(Pro276Leu)"	""
"0001046243"	"00009421"	"50"	"863"	"0"	"863"	"0"	"c.863C>T"	"r.(?)"	"p.(Pro288Leu)"	""
"0001046244"	"00025404"	"50"	"1157"	"0"	"1157"	"0"	"c.1157G>A"	"r.(?)"	"p.(Arg386His)"	""
"0001046244"	"00009421"	"50"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Arg398His)"	""
"0001053567"	"00025404"	"50"	"940"	"0"	"940"	"0"	"c.940C>G"	"r.(?)"	"p.(Pro314Ala)"	""
"0001053567"	"00009421"	"50"	"976"	"0"	"976"	"0"	"c.976C>G"	"r.(?)"	"p.(Pro326Ala)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 71
"{{screeningid}}"	"{{variantid}}"
"0000220168"	"0000455083"
"0000220168"	"0000455084"
"0000220169"	"0000455086"
"0000234266"	"0000476974"
"0000234267"	"0000476975"
"0000234268"	"0000476976"
"0000234269"	"0000476977"
"0000234270"	"0000476978"
"0000234271"	"0000476979"
"0000234272"	"0000476980"
"0000234273"	"0000476981"
"0000234274"	"0000476982"
"0000234275"	"0000476983"
"0000234276"	"0000476984"
"0000234867"	"0000477575"
"0000234868"	"0000477576"
"0000234869"	"0000477577"
"0000300757"	"0000663642"
"0000300758"	"0000663643"
"0000300759"	"0000663644"
"0000300760"	"0000663645"
"0000300761"	"0000663646"
"0000300762"	"0000663647"
"0000300763"	"0000663648"
"0000300764"	"0000663649"
"0000300765"	"0000663650"
"0000300766"	"0000663651"
"0000300767"	"0000663652"
"0000300768"	"0000663653"
"0000300769"	"0000663654"
"0000300770"	"0000663655"
"0000300771"	"0000663656"
"0000300772"	"0000663657"
"0000300773"	"0000663658"
"0000300774"	"0000663659"
"0000300775"	"0000663660"
"0000300776"	"0000663661"
"0000300777"	"0000663662"
"0000300778"	"0000663663"
"0000300779"	"0000663664"
"0000378578"	"0000791427"
"0000395569"	"0000826937"
"0000396835"	"0000828527"
"0000397126"	"0000828872"
"0000397169"	"0000828915"
"0000399079"	"0000831396"
"0000411086"	"0000868109"
"0000411087"	"0000868110"
"0000411088"	"0000868111"
"0000411089"	"0000868112"
"0000411090"	"0000868113"
"0000411091"	"0000868114"
"0000411092"	"0000868118"
"0000411093"	"0000868119"
"0000411094"	"0000868120"
"0000411095"	"0000868121"
"0000411096"	"0000868122"
"0000411097"	"0000868123"
"0000411098"	"0000868124"
"0000411099"	"0000868125"
"0000421772"	"0000896562"
"0000421804"	"0000896605"
"0000431191"	"0000916204"
"0000431466"	"0000916639"
"0000431520"	"0000916714"
"0000431542"	"0000916747"
"0000439885"	"0000936014"
"0000448873"	"0000958359"
"0000448897"	"0000958383"
"0000449252"	"0000959019"
"0000449280"	"0000959047"