### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TRPM1)
# 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}}"
"TRPM1"	"transient receptor potential cation channel, subfamily M, member 1"	"15"	"q13.3"	"unknown"	"NG_016453.1"	"UD_134408573520"	""	"http://www.LOVD.nl/TRPM1"	""	"1"	"7146"	"4308"	"603576"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	""	"g"	"http://databases.lovd.nl/shared/refseq/TRPM1_NM_002420.5_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-01-06 00:00:00"	"00006"	"2015-02-28 14:10:17"	"00006"	"2025-08-05 16:22:31"


## Transcripts ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00021906"	"TRPM1"	"transcript variant 2"	"002"	"NM_002420.5"	""	"NP_002411.3"	""	""	""	"-133"	"5573"	"4812"	"31393929"	"31293264"	""	"0000-00-00 00:00:00"	""	""
"00025545"	"TRPM1"	"transcript variant 1"	"001"	"NM_001252020.1"	""	"NP_001238949.1"	""	""	""	"-314"	"5690"	"4929"	"31453476"	"31293264"	"00006"	"2020-08-27 14:50:51"	""	""
"00025650"	"TRPM1"	"transcript variant 3"	"003"	"NM_001252024.1"	""	"NP_001238953.1"	""	""	""	"-153"	"5639"	"4878"	"31393929"	"31293264"	"03840"	"2021-10-29 13:00:22"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03285"	"CSNB1C"	"blindness, night, stationary, congenital, type 1C (CSNB-1C)"	""	"613216"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04280"	"FAP"	"adenomatous polyposis, familial (FAP)"	""	""	""	""	""	"00006"	"2015-06-06 23:26:41"	""	""
"05130"	"CSNB"	"blindness, night, stationary, congenital (CSNB)"	""	""	""	""	""	"00006"	"2016-02-03 23:24:36"	""	""
"05412"	"maculopathy"	"maculopathy"	""	""	""	""	""	"00006"	"2018-03-23 12:21:26"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TRPM1"	"03285"


## Individuals ## Do not remove or alter this header ##
## Count = 216
"{{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}}"
"00033190"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00033591"	""	""	""	"1"	""	"00243"	""	""	"M"	"no"	"India"	""	"0"	""	""	"Indian"	""
"00033592"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"Indian"	""
"00033593"	""	""	""	"1"	""	"00243"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"Indian"	""
"00033594"	""	""	""	"1"	""	"00243"	""	""	"M"	"yes"	"India"	""	"0"	""	""	"Indian"	""
"00033595"	""	""	""	"1"	""	"00243"	""	""	"F"	"no"	"India"	""	"0"	""	""	"Indian"	""
"00033596"	""	""	""	"1"	""	"00243"	""	""	"F"	"yes"	"India"	""	"0"	""	""	"Indian"	""
"00050415"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected and affected2nd degree relatives"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050459"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected sibling(s)"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050552"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected parents"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00143915"	""	""	""	"1"	""	"01780"	"{PMID:Katagiri 2014:25268133}"	"index patient"	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00155553"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00155554"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish"	""
"00155555"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00155556"	""	""	""	"3"	""	"01243"	"Sharon, submitted"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00229593"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00291168"	""	""	""	"14"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291169"	""	""	""	"28"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291170"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291171"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291172"	""	""	""	"79"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291173"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00299642"	""	""	""	"1"	""	"00006"	"{PMID:Arno 2017:28132693}"	"3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	""	""	"0"	""	""	""	"FamGC17880Pat3"
"00308676"	""	""	""	"1"	""	"00004"	"{PMID:Kim 2019:31144483}, {PMID:Lee 2020:32233153}, {PMID:Kim 2021:34064005}"	""	""	""	"Korea"	""	"0"	""	""	""	"?;patient;Pat3"
"00309433"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309434"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309435"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309436"	""	""	""	"12"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"12 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309437"	""	""	""	"16"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"16 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00316025"	""	""	""	"1"	""	"00006"	"{PMID:Zaharieva 2016:26700687}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Fam1PatII1"
"00327461"	""	""	""	"1"	""	"03980"	"Doucette 2021, submitted"	"Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted."	"M"	""	"Canada"	""	""	"Yes"	""	""	"M68 II-1"
"00327964"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240273"
"00328036"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G001399"
"00328044"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Asia-South"	"G001413"
"00328169"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G006399"
"00328272"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"W000097"
"00328417"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690978"
"00328480"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"16004916"
"00328481"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"12008032"
"00328482"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"11012960"
"00328503"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15019760"
"00332537"	""	""	""	"1"	""	"00006"	"{PMID:Comander 2017:28981474}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat20"
"00333363"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat3"
"00333414"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD20–03"
"00333415"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD6–04"
"00333421"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:28838317}"	""	""	""	"United States"	""	"0"	""	""	""	"RD14–05"
"00333992"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"480"
"00333993"	""	""	""	"2"	""	"00000"	"{PMID:Stone 2017:28559085}"	"family, 2 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"481"
"00358976"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case27419"
"00363686"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG0406"
"00372708"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP200"
"00373379"	""	""	""	"1"	""	"00000"	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Netherlands"	""	"0"	""	""	""	""
"00375388"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00375389"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00375390"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Belgium"	""	"0"	""	""	""	""
"00375391"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00375392"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"France"	""	"0"	""	""	""	""
"00375393"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00375394"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Israel"	""	"0"	""	""	""	""
"00375395"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Belgium"	""	"0"	""	""	""	""
"00375396"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Canada"	""	"0"	""	""	""	""
"00375397"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00375398"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00375399"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Belgium"	""	"0"	""	""	""	""
"00375400"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Israel"	""	"0"	""	""	""	""
"00375401"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Israel"	""	"0"	""	""	""	""
"00375402"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00375406"	""	""	""	"1"	""	"00000"	"{PMID:Zeitz 2015:25307992}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00375426"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#020"
"00375428"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#022"
"00376846"	""	""	""	"1"	""	"00000"	"{PMID:Malaichamy 2014:24715752}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Pat1"
"00376847"	""	""	""	"1"	""	"00000"	"{PMID:Malaichamy 2014:24715752}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Pat2"
"00376849"	""	""	""	"1"	""	"00000"	"{PMID:Malaichamy 2014:24715752}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Pat4"
"00376850"	""	""	""	"1"	""	"00000"	"{PMID:Malaichamy 2014:24715752}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Pat5"
"00376851"	""	""	""	"1"	""	"00000"	"{PMID:Malaichamy 2014:24715752}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Pat6"
"00376852"	""	""	""	"1"	""	"00000"	"{PMID:Malaichamy 2014:24715752}"	"see paper"	""	""	"India"	""	"0"	""	""	""	"Pat7"
"00377941"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00377942"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00377955"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00377958"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	"has affected nephew"	"M"	""	""	""	"0"	""	""	""	""
"00379429"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379897"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2017010902"
"00381257"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381258"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381259"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381260"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"M"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381261"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381262"	""	""	""	"2"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381263"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381264"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"M"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00381265"	""	""	""	"1"	""	"00008"	"{PMID:Bijveld-2013:23714322}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Dutch"	""
"00382309"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"138"
"00382579"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"441"
"00382606"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"469"
"00383461"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383462"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2019:31725702}"	""	"M"	""	""	""	"0"	""	""	""	""
"00383522"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2019:31496144}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"?"
"00384297"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13510"
"00385170"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"63"
"00386690"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI1081_002135"
"00386827"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI629_001292"
"00387641"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"29"
"00387642"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"30"
"00388470"	""	""	""	"1"	""	"00000"	"{PMID:Ellingsford 2018:29074561}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15010656"
"00390406"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001399"
"00390407"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001413"
"00390408"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G006399"
"00390409"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000097"
"00390744"	""	""	""	"1"	""	"00000"	"{PMID:Habibi 2020:32641690}"	"Family F26, patient II.1"	"F"	""	"Tunisia"	""	"0"	""	""	""	"F26_II.1"
"00391588"	""	""	""	"1"	""	"00000"	"{PMID:Hull 2020:32856788}"	""	"?"	""	"New Zealand"	""	"0"	""	""	"white"	"87"
"00393631"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00396410"	""	""	""	"1"	""	"00006"	"{PMID:Ellingford 2016:26872967}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"11012959"
"00414201"	""	""	""	"1"	""	"00000"	"{PMID:Li 2009:19878917}"	"Family 1 index case"	"F"	""	""	""	"0"	""	""	""	""
"00414202"	""	""	""	"1"	""	"00000"	"{PMID:Li 2009:19878917}"	"Family 1 index case\'s mother"	"F"	""	""	""	"0"	""	""	""	""
"00414203"	""	""	""	"1"	""	"00000"	"{PMID:Li 2009:19878917}"	"Family 1 index case\'s sister"	"F"	""	""	""	"0"	""	""	""	""
"00414204"	""	""	""	"1"	""	"00000"	"{PMID:Li 2009:19878917}"	"Family 2 index case"	"F"	""	""	""	"0"	""	""	""	""
"00414205"	""	""	""	"1"	""	"00000"	"{PMID:Li 2009:19878917}"	"Family 3 index case"	"F"	""	""	""	"0"	""	""	""	""
"00414206"	""	""	""	"1"	""	"00000"	"{PMID:Li 2009:19878917}"	"Family 3 index case\'s brother"	"M"	""	""	""	"0"	""	""	""	""
"00414207"	""	""	""	"1"	""	"00000"	"{PMID:van Genderen 2009:19896109}"	"Family 1 index case"	"F"	""	""	""	"0"	""	""	""	"1"
"00414208"	""	""	""	"1"	""	"00000"	"{PMID:van Genderen 2009:19896109}"	"Family 2 index case"	"F"	""	""	""	"0"	""	""	""	"2"
"00414209"	""	""	""	"1"	""	"00000"	"{PMID:van Genderen 2009:19896109}"	"Family 3 index case"	"F"	""	""	""	"0"	""	""	""	"3"
"00414210"	""	""	""	"1"	""	"00000"	"{PMID:van Genderen 2009:19896109}"	"Family 4 index case"	"F"	""	""	""	"0"	""	""	""	"4"
"00414211"	""	""	""	"1"	""	"00000"	"{PMID:van Genderen 2009:19896109}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00414212"	""	""	""	"1"	""	"00000"	"{PMID:van Genderen 2009:19896109}"	""	"F"	""	""	""	"0"	""	""	""	"6"
"00414262"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 1, proband (families not named, consacutive numbers given)"	""	""	"France"	""	"0"	""	""	"Portuguese-French"	"family 1, patient CIC00238"
"00414263"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 1, proband\'s sister (families not named, consacutive numbers given)"	"F"	""	"France"	""	"0"	""	""	"Portuguese-French"	"family 1, patient CIC03452"
"00414264"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 10, proband (families not named, consacutive numbers given)"	""	""	"Germany"	""	"0"	""	""	"German"	"family 10, patient 4497, II-1"
"00414265"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 2, proband (families not named, consacutive numbers given)"	""	""	"Germany"	""	"0"	""	""	"Turkish"	"family 2, patient 691"
"00414266"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 3, proband (families not named, consacutive numbers given)"	""	""	"Germany"	""	"0"	""	""	"German"	"family 3, patient 8214"
"00414267"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 4, proband (families not named, consacutive numbers given)"	""	""	"France"	""	"0"	""	""	"French"	"family 4, patient CIC00612"
"00414268"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 5, proband (families not named, consacutive numbers given)"	""	""	"Switzerland"	""	"0"	""	""	"Italian"	"family 5, patient 23625, II-3"
"00414269"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 6, proband (families not named, consacutive numbers given)"	""	""	"Germany"	""	"0"	""	""	"German"	"family 6, patient 758.01"
"00414270"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 7, proband (families not named, consacutive numbers given)"	""	""	"Belgium"	""	"0"	""	""	"Flemish-Belgian"	"family 7, patient D0704708 , II-3"
"00414271"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 8, proband (families not named, consacutive numbers given)"	""	""	"United States"	""	"0"	""	""	"Austrian-Russian-Ashkenazi Jewish"	"family 8, patient 14101"
"00414272"	""	""	""	"1"	""	"00000"	"{PMID:Audo 2009:19896113}"	"family 9, proband (families not named, consacutive numbers given)"	""	""	"Germany"	""	"0"	""	""	"German"	"family 9, patient 10731"
"00414275"	""	""	""	"1"	""	"00000"	"{PMID:Nakamura 2010:20300565}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"patient #373"
"00414276"	""	""	""	"1"	""	"00000"	"{PMID:Nakamura 2010:20300565}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"patient #437"
"00414277"	""	""	""	"1"	""	"00000"	"{PMID:Nakamura 2010:20300565}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"patient #484"
"00414486"	""	""	""	"1"	""	"00000"	"{PMID:Al Oreany 2016:27084085}"	"family with two affected twin 20-year old brothers (II:1 and II:2)"	"M"	""	""	""	"0"	""	""	""	"II:1"
"00414487"	""	""	""	"1"	""	"00000"	"{PMID:Al Oreany 2016:27084085}"	"family with two affected twin 20-year old brothers (II:1 and II:2)"	"M"	""	""	""	"0"	""	""	""	"II:2"
"00414532"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2016:27803854}"	"family A, proband\'s brother"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00414533"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2016:27803854}"	"family A, proband\'s sister"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"II:2"
"00414534"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2016:27803854}"	"family A, proband"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:3"
"00414535"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2016:27803854}"	"family B"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"II:1"
"00414548"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 1"
"00414549"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 2"
"00414550"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 3"
"00414551"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 4"
"00414552"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 5"
"00414553"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 6"
"00414554"	""	""	""	"1"	""	"00000"	"{PMID:Utz 2018:29522070}"	""	"?"	""	""	""	"0"	""	""	""	"Patient 7"
"00414556"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0084-1"
"00414557"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0084-2"
"00414558"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0086-1"
"00414559"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0224-1"
"00414560"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0239-1"
"00414561"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0239-2"
"00414562"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0398-1"
"00414563"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0398-3"
"00414564"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0417-1"
"00414565"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0417-4"
"00414566"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0471-1"
"00414567"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0609-1"
"00414568"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0609-2"
"00414569"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0609-4"
"00414570"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0688-1"
"00414571"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0743-1"
"00414572"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL968-1"
"00414573"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL1075-2"
"00414574"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL1085-1*"
"00414575"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL1188-1*"
"00414576"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL1311-1*"
"00414577"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL1420-1"
"00414578"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ4-1"
"00414579"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ8-1"
"00414580"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ16-1"
"00414581"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ164-1"
"00414582"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ164-2"
"00414583"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ181-1"
"00414584"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"SJ185-1"
"00414585"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0325-1"
"00414586"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Palestinian"	"MOL0325-3"
"00414587"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0079-1"
"00414588"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0132-1"
"00414589"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0362-1"
"00414590"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0611-1"
"00414591"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0614-1"
"00414592"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0720-1"
"00414593"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0903-1"
"00414594"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL0976-1"
"00414595"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"M"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"MOL1613-1"
"00414596"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"RD206-1"
"00414597"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"F"	""	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"RD356-1"
"00414598"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"?"	""	"Israel"	""	"0"	""	""	""	"MOL0388-1"
"00414599"	""	""	""	"1"	""	"00000"	"{PMID:AlTalbishi 2019:31427709}"	""	"?"	""	"Israel"	""	"0"	""	""	""	"MOL0015"
"00414600"	""	""	""	"1"	""	"00000"	"{PMID:Al Hujaili 2019:31908403}"	"sibling of patient 2"	"F"	""	""	""	"0"	""	""	""	"Patient 1"
"00414601"	""	""	""	"1"	""	"00000"	"{PMID:Al Hujaili 2019:31908403}"	"sibling of patient 1"	"M"	""	""	""	"0"	""	""	""	"Patient 2"
"00415045"	""	""	""	"2"	""	"04364"	""	"3-generation family, affected mother and elder sibling"	"F"	"no"	"India"	">13y"	"0"	"yes"	"none"	"Asian"	""
"00415167"	""	""	""	"1"	""	"04364"	""	""	"F"	"yes"	"India"	">10y"	""	"yes"	"none"	"Asian"	""
"00415168"	""	""	""	"1"	""	"04364"	""	"4 generation pedigree with one affected family member"	"F"	""	"India"	">24y"	""	"yes"	"none"	"Asian"	""
"00415171"	""	""	""	"1"	""	"04364"	""	""	"F"	"?"	"India"	">34y"	""	"yes"	"none"	"Asian"	""
"00415175"	""	""	""	"1"	""	"04364"	""	""	"F"	"?"	"India"	">16y"	""	"yes"	"none"	"Asian"	""
"00426906"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 9, individual 10"	"F"	""	""	""	"0"	""	""	""	"9_10"
"00426912"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 17, individual 19"	"F"	""	""	""	"0"	""	""	""	"17_19"
"00426913"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 19, individual 21"	"F"	""	""	""	"0"	""	""	""	"19_21"
"00426917"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 23, individual 26"	"F"	""	""	""	"0"	""	""	""	"23_26"
"00426920"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 26, individual 29"	"F"	""	""	""	"0"	""	""	""	"26_29"
"00426921"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 26, individual 30"	"M"	""	""	""	"0"	""	""	""	"26_30"
"00426930"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 33, individual 39"	"F"	""	""	""	"0"	""	""	""	"33_39"
"00429961"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430069"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00447129"	""	""	""	"2"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, 2 affected"	"F"	""	"Germany"	""	"0"	""	""	""	"CSNB-139"
"00447326"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-1282"
"00447553"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"F"	""	"Germany"	""	"0"	""	""	""	"CSNB-153"
"00447671"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"CSNB-145"
"00466091"	""	""	""	"4"	""	"00006"	"{PMID:Rohlin 2016:26493165}"	"5-generation family, several affected"	"F"	""	"Sweden"	""	"0"	""	""	""	"FamPatIV2/IV6/V2/V8"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 216
"{{individualid}}"	"{{diseaseid}}"
"00033190"	"04214"
"00033591"	"03285"
"00033592"	"03285"
"00033593"	"03285"
"00033594"	"03285"
"00033595"	"03285"
"00033596"	"03285"
"00050415"	"00198"
"00050459"	"00198"
"00050552"	"00198"
"00143915"	"04214"
"00155553"	"05130"
"00155554"	"05130"
"00155555"	"05130"
"00155556"	"05130"
"00229593"	"00198"
"00291168"	"00198"
"00291169"	"00198"
"00291170"	"00198"
"00291171"	"00198"
"00291172"	"00198"
"00291173"	"00198"
"00299642"	"04214"
"00308676"	"04214"
"00309433"	"04214"
"00309434"	"04214"
"00309435"	"04214"
"00309436"	"04214"
"00309437"	"04214"
"00316025"	"00198"
"00327461"	"05412"
"00327964"	"04214"
"00328036"	"04214"
"00328044"	"04214"
"00328169"	"04214"
"00328272"	"04214"
"00328417"	"04214"
"00328480"	"04214"
"00328481"	"04214"
"00328482"	"04214"
"00328503"	"04214"
"00332537"	"04214"
"00333363"	"04214"
"00333414"	"04214"
"00333415"	"04214"
"00333421"	"04214"
"00333992"	"04214"
"00333993"	"04214"
"00358976"	"04214"
"00363686"	"04214"
"00372708"	"04214"
"00373379"	"04214"
"00375388"	"04214"
"00375389"	"04214"
"00375390"	"04214"
"00375391"	"04214"
"00375392"	"04214"
"00375393"	"04214"
"00375394"	"04214"
"00375395"	"04214"
"00375396"	"04214"
"00375397"	"04214"
"00375398"	"04214"
"00375399"	"04214"
"00375400"	"04214"
"00375401"	"04214"
"00375402"	"04214"
"00375406"	"04214"
"00375426"	"04214"
"00375428"	"04214"
"00376846"	"04214"
"00376847"	"04214"
"00376849"	"04214"
"00376850"	"04214"
"00376851"	"04214"
"00376852"	"04214"
"00377941"	"04214"
"00377942"	"04214"
"00377955"	"04214"
"00377958"	"04214"
"00379429"	"04214"
"00379897"	"04214"
"00381257"	"04214"
"00381258"	"04214"
"00381259"	"04214"
"00381260"	"04214"
"00381261"	"04214"
"00381262"	"04214"
"00381263"	"04214"
"00381264"	"04214"
"00381265"	"04214"
"00382309"	"04214"
"00382579"	"04214"
"00382606"	"04214"
"00383461"	"04214"
"00383462"	"04214"
"00383522"	"04214"
"00384297"	"04214"
"00385170"	"04214"
"00386690"	"04214"
"00386827"	"04214"
"00387641"	"04214"
"00387642"	"04214"
"00388470"	"04214"
"00390406"	"04214"
"00390407"	"04214"
"00390408"	"04214"
"00390409"	"04214"
"00390744"	"04214"
"00391588"	"04214"
"00393631"	"04214"
"00396410"	"04214"
"00414201"	"04214"
"00414202"	"04214"
"00414203"	"04214"
"00414204"	"04214"
"00414205"	"04214"
"00414206"	"04214"
"00414207"	"04214"
"00414208"	"04214"
"00414209"	"04214"
"00414210"	"04214"
"00414211"	"04214"
"00414212"	"04214"
"00414262"	"04214"
"00414263"	"04214"
"00414264"	"04214"
"00414265"	"04214"
"00414266"	"04214"
"00414267"	"04214"
"00414268"	"04214"
"00414269"	"04214"
"00414270"	"04214"
"00414271"	"04214"
"00414272"	"04214"
"00414275"	"04214"
"00414276"	"04214"
"00414277"	"04214"
"00414486"	"04214"
"00414487"	"04214"
"00414532"	"04214"
"00414533"	"04214"
"00414534"	"04214"
"00414535"	"04214"
"00414548"	"04214"
"00414549"	"04214"
"00414550"	"04214"
"00414551"	"04214"
"00414552"	"04214"
"00414553"	"04214"
"00414554"	"04214"
"00414556"	"04214"
"00414557"	"04214"
"00414558"	"04214"
"00414559"	"04214"
"00414560"	"04214"
"00414561"	"04214"
"00414562"	"04214"
"00414563"	"04214"
"00414564"	"04214"
"00414565"	"04214"
"00414566"	"04214"
"00414567"	"04214"
"00414568"	"04214"
"00414569"	"04214"
"00414570"	"04214"
"00414571"	"04214"
"00414572"	"04214"
"00414573"	"04214"
"00414574"	"04214"
"00414575"	"04214"
"00414576"	"04214"
"00414577"	"04214"
"00414578"	"04214"
"00414579"	"04214"
"00414580"	"04214"
"00414581"	"04214"
"00414582"	"04214"
"00414583"	"04214"
"00414584"	"04214"
"00414585"	"04214"
"00414586"	"04214"
"00414587"	"04214"
"00414588"	"04214"
"00414589"	"04214"
"00414590"	"04214"
"00414591"	"04214"
"00414592"	"04214"
"00414593"	"04214"
"00414594"	"04214"
"00414595"	"04214"
"00414596"	"04214"
"00414597"	"04214"
"00414598"	"04214"
"00414599"	"04214"
"00414600"	"04214"
"00414601"	"04214"
"00415045"	"05130"
"00415167"	"05130"
"00415168"	"05130"
"00415171"	"05130"
"00415175"	"05130"
"00426906"	"04214"
"00426912"	"04214"
"00426913"	"04214"
"00426917"	"04214"
"00426920"	"04214"
"00426921"	"04214"
"00426930"	"04214"
"00429961"	"04214"
"00430069"	"04214"
"00447129"	"00198"
"00447326"	"00198"
"00447553"	"00198"
"00447671"	"00198"
"00466091"	"04280"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03285, 04214, 04280, 05130, 05412
## Count = 208
"{{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/Cysts}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Eye/Retina}}"	"{{Phenotype/Neoplasm}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000026619"	"04214"	"00033190"	"00229"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000027020"	"03285"	"00033591"	"00243"	"Familial, autosomal recessive"	"0d"	""	"26y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027021"	"03285"	"00033592"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"45y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027022"	"03285"	"00033593"	"00243"	"Familial, autosomal recessive"	"0d"	""	"31y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027023"	"03285"	"00033594"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"27y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027024"	"03285"	"00033595"	"00243"	"Familial, autosomal recessive"	"0d"	""	"19y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000027025"	"03285"	"00033596"	"00243"	"Familial, autosomal recessive"	"00y00m00d"	""	"30y"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037027"	"00198"	"00050415"	"00006"	"Unknown"	""	"prominent ears, hyperextensible hand joints, specific learning disability"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037071"	"00198"	"00050459"	"00006"	"Unknown"	""	"global developmental delay"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037164"	"00198"	"00050552"	"00006"	"Unknown"	""	"motor delay, hemiplegia, congenital strabismus, plagiocephaly"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000116693"	"04214"	"00143915"	"01780"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000128053"	"05130"	"00155553"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CSNB"	""
"0000128054"	"05130"	"00155554"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CSNB"	""
"0000128055"	"05130"	"00155555"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CSNB"	""
"0000128056"	"05130"	"00155556"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CSNB"	""
"0000172859"	"00198"	"00229593"	"01807"	"Unknown"	""	"HP:0007642 (Congenital stationary night blindness)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000226952"	"04214"	"00299642"	"00006"	"Familial, autosomal recessive"	"38y"	"see paper; ..., 30y-photopsia (HP:0030786), nyctalopia (HP:0000662), field defect; irregular pigmented lesions in periphery (HP:0007703), foveal/parafoveal cysts (HP:?); 30y-PERG borderline on R, subnormal on L, undetectable rod ERG, abnormal cone ERG, severe rod>cone dysfunction; 33y-colour vision Ishihara R 21/23 L 3/23; 36y-fields to confrontation less than 30 degrees; presenting VA logMAR (Snellen) R 0.18 (20/30), L 0.48 (20/60); latest VA logMAR R 0.18 (20/30), L 0.8 (20/125); latest refractive error, dioptres R +2.25/-1.00x5, L +2.00/-1.50x165"	"30y"	""	""	""	""	""	""	""	""	""	""	"RP78"	"retinitis pigmentosa"	""
"0000234104"	"04214"	"00308676"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000234753"	"04214"	"00309433"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000234754"	"04214"	"00309434"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000234755"	"04214"	"00309435"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000234756"	"04214"	"00309436"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000234757"	"04214"	"00309437"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000239770"	"00198"	"00316025"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors,  abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital myopathy"	""
"0000245750"	"05412"	"00327461"	"03980"	"Familial, autosomal recessive"	"15y"	"Fundus: No specific findings\r\n\r\nOCT: Normal\r\n\r\nERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512)\r\n\r\n- Reduced Visual Acuity 20/40 OU (HP:0007663)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000246191"	"04214"	"00327964"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246263"	"04214"	"00328036"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246271"	"04214"	"00328044"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246396"	"04214"	"00328169"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246499"	"04214"	"00328272"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246643"	"04214"	"00328417"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000246706"	"04214"	"00328480"	"00000"	"Familial, autosomal recessive"	"7y"	"congenital stationary night blindness (HP:0007642)"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246707"	"04214"	"00328481"	"00000"	"Familial, autosomal recessive"	"9y"	"congenital stationary night blindness (HP:0007642)"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246708"	"04214"	"00328482"	"00000"	"Familial, autosomal recessive"	"10y"	"congenital stationary night blindness (HP:0007642)"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000246729"	"04214"	"00328503"	"00000"	"Familial, autosomal recessive"	"14y"	"congenital stationary night blindness (HP:0007642), neurodevelopmental abnormality (HP:0012759)"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000250725"	"04214"	"00332537"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"pericentral retinitis pigmentosa"	""
"0000251550"	"04214"	"00333363"	"00000"	"Unknown"	"73y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251601"	"04214"	"00333414"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"CSNB"	""
"0000251602"	"04214"	"00333415"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"CSNB"	""
"0000251608"	"04214"	"00333421"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"RP"	""
"0000252177"	"04214"	"00333992"	"00000"	"Familial, autosomal recessive"	"20y"	"clinical category IA2fiii"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary cone dysfunction"	""
"0000252178"	"04214"	"00333993"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA2fiii"	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000254274"	"04214"	"00358976"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000259036"	"04214"	"00363686"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	""	""	""	"cone rod dystrophy"	""
"0000267987"	"04214"	"00372708"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268655"	"04214"	"00373379"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270602"	"04214"	"00375388"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270603"	"04214"	"00375389"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270604"	"04214"	"00375390"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270605"	"04214"	"00375391"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270606"	"04214"	"00375392"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270607"	"04214"	"00375393"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270608"	"04214"	"00375394"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270609"	"04214"	"00375395"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270610"	"04214"	"00375396"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270611"	"04214"	"00375397"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270612"	"04214"	"00375398"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270613"	"04214"	"00375399"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270614"	"04214"	"00375400"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270615"	"04214"	"00375401"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270616"	"04214"	"00375402"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270620"	"04214"	"00375406"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000270640"	"04214"	"00375426"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270642"	"04214"	"00375428"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272055"	"04214"	"00376846"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000272056"	"04214"	"00376847"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000272058"	"04214"	"00376849"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000272059"	"04214"	"00376850"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000272060"	"04214"	"00376851"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000272061"	"04214"	"00376852"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000273087"	"04214"	"00377941"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000273088"	"04214"	"00377942"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000273101"	"04214"	"00377955"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Cone Distrophy"	""
"0000273104"	"04214"	"00377958"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000273302"	"04214"	"00379429"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273751"	"04214"	"00379897"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis?"	""
"0000275108"	"04214"	"00381257"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275109"	"04214"	"00381258"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275110"	"04214"	"00381259"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275111"	"04214"	"00381260"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275112"	"04214"	"00381261"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275113"	"04214"	"00381262"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275114"	"04214"	"00381263"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275115"	"04214"	"00381264"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000275116"	"04214"	"00381265"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness"	""
"0000276158"	"04214"	"00382309"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""
"0000276428"	"04214"	"00382579"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276455"	"04214"	"00382606"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277246"	"04214"	"00383461"	"00000"	"Familial, autosomal recessive"	""	""	"0y"	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""
"0000277247"	"04214"	"00383462"	"00000"	"Familial, autosomal recessive"	""	""	"0y"	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""
"0000277307"	"04214"	"00383522"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	""
"0000278082"	"04214"	"00384297"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000278966"	"04214"	"00385170"	"00000"	"Familial, autosomal recessive"	"14y2m"	"HP:0001249 Intellectual disability; HP:0000708 Behavioural abnormality; HP:0007642 Congenital stationary night blindness"	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital Stationary Night Blindness; (Possible diagnosis by panel)"	""
"0000280490"	"04214"	"00386690"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280627"	"04214"	"00386827"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000281204"	"04214"	"00387641"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	"Childhood retinal disease"	""
"0000281205"	"04214"	"00387642"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Congenital stationary night blindness"	"Childhood retinal disease"	""
"0000282022"	"04214"	"00388470"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000283944"	"04214"	"00390406"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283945"	"04214"	"00390407"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000283946"	"04214"	"00390408"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000283947"	"04214"	"00390409"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284232"	"04214"	"00390744"	"00000"	"Familial, autosomal recessive"	"50y"	"Visual acuity right eye/left eye: 2/10_2/10, high myopia, cataract, chorioretinal atrophy, macular atrophy"	"<5y"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000284924"	"04214"	"00391588"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000286837"	"04214"	"00393631"	"00000"	"Isolated (sporadic)"	"11y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Leber Congenital Amaurosis (LCA)"	""
"0000289572"	"04214"	"00396410"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000306073"	"04214"	"00414201"	"00000"	"Familial, autosomal recessive"	"2y"	"mother and a maternal uncle also had a nonprogressive night blindness; 13m: cycloplegic refraction right, left eye: 14.00/1.00x170, 13.00/1.00x20; fundoscopy showed pale optic discs in both eyes and signs of pallor of the fundal reflex, consistent with myopia; dry skin, required application of emollients"	"5m"	"11m"	"nystagmus and convergent squint"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306074"	"04214"	"00414202"	"00000"	"Familial, autosomal recessive"	"28y"	"bilateral high myopia (23D spherical equivalent in each eye); best corrected visual acuity and refraction right / left eye: 0.26 / 0.32; fundus examination showed myopic fundi; electrophysiology: features were typical of complete CSNB, suggesting ON- pathway dysfunction in rods and all cone types; dry skin, required application of emollients"	""	""	"nonprogressive nyctalopia from an early age, convergent squint"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306075"	"04214"	"00414203"	"00000"	"Familial, autosomal recessive"	""	"nystagmus within the first year of life, not formally examined"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306076"	"04214"	"00414204"	"00000"	"Familial, autosomal recessive"	"36y"	"pituitary gland enlargement without evidence of suprasellar extension or pituitary hormone dysfunction, received treatment for eczema; best corrected visual acuity and refraction right / left eye: 1.00 / 0.84 logMAR, myopic (right, left eye: 15.50/1.50x50, 14.50/1.00x90); normal color vision and full visual fields on Goldmann kinetic perimetry; right convergent squint and pendular nystagmus, and myopic changes were evident on fundoscopy; fundus autofluorescence: normal; electrophysiology typical of complete CSNB"	">1y"	"16y"	"nystagmus"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306077"	"04214"	"00414205"	"00000"	"Familial, autosomal recessive"	"24y"	"difficulties seeing at night and poorer vision in her left eye from an early age; blistering of the skin - uncharacterized condition similar to epidermolysis bullosa simplex; regular thyroxine for hypothyroidism; best corrected visual acuity right/left eye: 0.28 / 1.00 (thought to be amblyopic); myopa (4.25D in each eye), left divergent squint and nystagmus; fundus: bilateral tilted optic discs, otherwise unremarkable; electrophysiology typical of complete CSNB"	"0m"	""	"nystagmus and a left divergent squint from birth"	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306078"	"04214"	"00414206"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306080"	"04214"	"00414207"	"00000"	"Familial, autosomal recessive"	"16y"	"best corrected visual acuity right/left eye: 0.3/0.25; nystagmus: ; refractive error: E/S-1.0; dark-adaptation elevated threshold (log): 2.6"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306081"	"04214"	"00414208"	"00000"	"Familial, autosomal recessive"	"21y"	"best corrected visual acuity right/left eye: 0.2/0.3; nystagmus: ; refractive error: S-3.5/S-2.5; dark-adaptation elevated threshold (log): 3"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306082"	"04214"	"00414209"	"00000"	"Familial, autosomal recessive"	"46y"	"best corrected visual acuity right/left eye: 0.8/0.4; no nystagmus: ; refractive error: S-14.0/S-13.5; dark-adaptation elevated threshold (log): 3.2"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306083"	"04214"	"00414210"	"00000"	"Familial, autosomal recessive"	"8y"	"best corrected visual acuity right/left eye: 0.1/0.5; nystagmus: ; refractive error: S-14/S-12; dark-adaptation elevated threshold (log): not tested"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306084"	"04214"	"00414211"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right/left eye: 0.3/0.3; no nystagmus: ; refractive error: S-9.0/S-8.3; dark-adaptation elevated threshold (log): not tested"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306085"	"04214"	"00414212"	"00000"	"Familial, autosomal recessive"	"7y"	"best corrected visual acuity right/left eye: 0.1/0.3; nystagmus: ; refractive error: S-3.0/S -3.0; dark-adaptation elevated threshold (log): 2.9"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306100"	"04214"	"00414262"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia, nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306101"	"04214"	"00414263"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia, nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306102"	"04214"	"00414264"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia, nystagmus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306103"	"04214"	"00414265"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia, nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306104"	"04214"	"00414266"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia, strabismus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306105"	"04214"	"00414267"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia, nystagmus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306106"	"04214"	"00414268"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306107"	"04214"	"00414269"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306108"	"04214"	"00414270"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, hypermetropia, strabismus"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306109"	"04214"	"00414271"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306110"	"04214"	"00414272"	"00000"	"Familial, autosomal recessive"	""	"complete congenital stationary night blindness, myopia"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306111"	"04214"	"00414275"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right/left eye: 1.0/1.0; refraction: -8.25 -2.75 X 40 / -8.25 -0.50 X 180; color vision: not determined; fundus appearance: myopic; visual field: not determined; night blindness; no nystagmus: ; strabismus: orthophoria"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306112"	"04214"	"00414276"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right/left eye: 1.0/1.0; refraction: -4.50 -2.25 X 120 / -4.50 -2.75 X 50; color vision: normal; fundus appearance: myopic; visual field: normal; night blindness; no nystagmus: ; strabismus: orthophoria"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306113"	"04214"	"00414277"	"00000"	"Familial, autosomal recessive"	""	"best corrected visual acuity right eye: 0.5; refraction: -13.00 -3.00 X 90; color vision: normal; fundus appearance: myopic; visual field: normal; night blindness; nystagmus: ; strabismus: esotropia"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306321"	"04214"	"00414486"	"00000"	"Familial, autosomal recessive"	"20y"	"best corrected visual acuity both eyes: 20/30; refraction right / left eye: -7_1.75x 175 / OS-8.75-2.25 x 105; small amplitude pendular horizontal nystagmus both eyes; fundi: normal except for myopic changes (such as apparently thin retinas with visible choroidal vessels) and hypoplastic tilted discs; fundus autofluorescence: a normal distribution of autofluorescence; optical coherence tomography: normal retinal layers, full field electroretinography: nonrecordable rod response and an electronegative pattern, with a reduced b wave amplitude compared to a wave amplitude in the combined rod-cone response, light adapted responses: normal to mildly reduced, including a mildly reduced b/a ratio in the single flash cone response, no significant change in the full field electroretinogram after prolonged 2 hour dark adaptation compared to after standard 30 minute dark adaptation; total retinal thickness not reduced compared to controls but there was relative thinning of the inner nuclear layer compared to other retinal layers; magnetic resonance imaging: done because of hypoplastic discs, to rule out septo-optic dysplasia - normal findings, including normal midline structure and normal appearing optic nerves; visual fields: normal"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306322"	"04214"	"00414487"	"00000"	"Familial, autosomal recessive"	"20y"	"best corrected visual acuity right, left eye: 20/40, 20/50; refraction right / left eye: -8_-1 x 60, OS -8_- 0.5 x 150; small amplitude pendular horizontal nystagmus both eyes; fundi: normal except for myopic changes (such as apparently thin retinas with visible choroidal vessels) and hypoplastic tilted discs; fundus autofluorescence: a normal distribution of autofluorescence; optical coherence tomography: normal retinal layers that could be automatically segmented using the Heidelberg software; full field electroretinography: nonrecordable rod response and an electronegative pattern, with a reduced b wave amplitude compared to a wave amplitude in the combined rod-cone response, light adapted responses: normal to mildly reduced, including a mildly reduced b/a ratio in the single flash cone response, no significant change in the full field electroretinogram after prolonged 2 hour dark adaptation compared to after standard 30 minute dark adaptation; total retinal thickness not reduced compared to controls but there was relative thinning of the inner nuclear layer compared to other retinal layers; magnetic resonance imaging: done because of hypoplastic discs, to rule out septo-optic dysplasia - normal findings, including normal midline structure and normal appearing optic nerves; visual fields: normal"	""	""	""	""	""	""	""	""	""	""	""	"complete congenital stationary night blindness"	""	""
"0000306335"	"04214"	"00414532"	"00000"	"Familial, autosomal recessive"	"17y"	"best corrected visual acuity right/left eye: 0.7 / 0.6; refraction right/left eye: -7 / -6.25; axial length (mm) right/left eye: not available / not available; electroretinogram, rod: extinguished, cone: normal"	"<8y"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000306336"	"04214"	"00414533"	"00000"	"Familial, autosomal recessive"	"37y"	"best corrected visual acuity right/left eye: 1 / 1; refraction right/left eye: -7 / -7.25; axial length (mm): 27.49 / 27.67; electroretinogram, rod: extinguished, cone: normal"	"<8y"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000306337"	"04214"	"00414534"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity right/left eye: 1 / 1; refraction right/left eye: -9.25 / -9.25; axial length (mm): 28.37 / 28.28; electroretinogram, rod: extinguished, cone: normal"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000306338"	"04214"	"00414535"	"00000"	"Familial, autosomal recessive"	"3y"	"best corrected visual acuity right/left eye: 0.3 / 0.3; refraction right/left eye: -5.75 / -5.5; axial length (mm): not available / not available; electroretinogram, rod: not available, cone: not available"	"<8y"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000306348"	"04214"	"00414548"	"00000"	"Familial, autosomal recessive"	"15y"	"strabismus (surgery); intermittent exotropia (stereopsis 6/9), ; nystagmus; initial refractive error (spherical equivalent) right / left eye: -2.00 / -3.5; systemic studies: yes (magnetic resonance imaging normal); nyctalopia, age: progressive, preteen; best corrected visual acuity (Snellen/logMAR) right, left eye: 5y ; 20/50 (0.400) ; 20/30  (0.176); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 15y20/20 (0.000);, 20/20 (0.000); refractive error (spherical equivalent) right; left eye: -4.00;-4.25; color discrimination: full; fundus: optic nerve: tilted; myopic; few hypo-pigmented areas; Goldmann visual field: normal both eyes; sensitivity threshold test: -34.5;-31.5; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: 226 um, 8.4 mm2 / 250 um, 8.5 mm2"	">8m"	"<12y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"spasmus mutans"	""
"0000306349"	"04214"	"00414549"	"00000"	"Familial, autosomal recessive"	"14y"	"strabismus; intermittent esotropia and congenital fourth nerve palsy (stereopsis 0/9); no nystagmus; initial refractive error (spherical equivalent) right / left eye: +1.00 / +0.25; systemic studies: no; nyctalopia, age: progressive, child; age; best corrected visual acuity right, left eye: 5y ; 20/50  (0.400) ; 20/70  (0.544); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 14y20/40 (0.301);, 20/70  (0.544); refractive error (spherical equivalent) right; left eye: -5.50;-6.5; color discrimination: full; fundus: optic nerve: tilted, temporal pallor; myopic fundus; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; small central scotoma both eyes; sensitivity threshold test: -28.2;-26.6; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: 246 um, 6.01 mm2 / 234 um, ND"	">8m"	"<10y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"congenital fourth nerve palsy"	""
"0000306350"	"04214"	"00414550"	"00000"	"Familial, autosomal recessive"	"11y"	"strabismus; intermittent exotropia (stereopsis 5/9); no nystagmus; initial refractive error (spherical equivalent) right / left eye: -8.50 / -8.5; systemic studies: yes (Stickler syndrome evaluation); nyctalopia, age: progressive, child; age; best corrected visual acuity right, left eye: 5y ; 20/40 (0.301) ; 20/40  (0.301); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 11y20/25 (0.097);, 20/20 (0.000); refractive error (spherical equivalent) right; left eye: -13.75;-14; color discrimination: full; fundus: optic nerve: tilted; myopic, lattice; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; sensitivity threshold test: -31.4;-29.6; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: ND / 387 um, 11.68 mm2"	">8m"	"<10y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"pathologic myopia"	""
"0000306351"	"04214"	"00414551"	"00000"	"Familial, autosomal recessive"	"9y"	"exotropia (stereopsis 8/9), initially had orthophoria and then developed exophoria; no nystagmus; initial refractive error (spherical equivalent) right / left eye: -8.25 / -7.75; systemic studies: yes (Stickler syndrome evaluation); nyctalopia, age: none reported; age; best corrected visual acuity right, left eye: 5y ; 20/20 (0.000) ; 20/25  (0.097); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 9y20/20 (0.000);, 20/20 (0.097); refractive error (spherical equivalent) right; left eye: -9.00;-8; color discrimination: full; fundus: optic nerve: tilted; myopic, cystic retinal tuft right eye; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; sensitivity threshold test: -26.6;-28.9; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: 237 um, 7.85 mm2 / 236 um, 7.82 mm2"	">8m"	"<3y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"pathologic myopia"	""
"0000306352"	"04214"	"00414552"	"00000"	"Familial, autosomal recessive"	"9y"	"strabismus (surgery); intermittent exotropia; nystagmus; initial refractive error (spherical equivalent) right / left eye: -1.00 / -1.5; systemic studies: no; nyctalopia, age: none reported; age; best corrected visual acuity right, left eye: 6y ; 20/70  (0.544) ; 20/70  (0.544); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 9y20/80  (0.602);, 20/60 (0.477); refractive error (spherical equivalent) right; left eye: -6.50;-6; color discrimination: full; fundus: optic nerve: tilted; tessellated, myopic fundus; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; sensitivity threshold test: -22.5;-27.8; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: 259 um, 8.29 mm2 / 275 um, 8.01 mm2"	">8m"	"<10y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"myopia"	""
"0000306353"	"04214"	"00414553"	"00000"	"Familial, autosomal recessive"	"15y"	"strabismus; intermittent esotropia (stereopsis 3/9); nystagmus; initial refractive error (spherical equivalent) right / left eye: -3.50 / -3.5; systemic studies: yes (magnetic resonance imaging normal); nyctalopia, age: toddler; age; best corrected visual acuity right, left eye: 4y ; 20/40  (0.301) ; 20/30  (0.176); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 15y20/20 (0.000);, 20/20 (0.000); refractive error (spherical equivalent) right; left eye: -13.50;-14; color discrimination: full; fundus: optic nerve: tilted; myopic; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; small central scotoma both eyes; sensitivity threshold test: -29.2;-27.4; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: ND"	">8m"	"<10y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"infantile nystagmus"	""
"0000306354"	"04214"	"00414554"	"00000"	"Familial, autosomal recessive"	"10y"	"strabismus; intermittent exotropia (stereopsis 0/9); nystagmus; initial refractive error (spherical equivalent) right / left eye: +3.75 / +3.75; systemic studies: yes (magnetic resonance imaging normal); nyctalopia, age: child; age; best corrected visual acuity right, left eye: 4y ; 20/100  (0.699) ; 20/200  (1.00); age; best corrected visual acuity (Snellen/logMAR) right, left eye: 10y20/40 (0.301), 20/50 (0.398); refractive error (spherical equivalent) right; left eye: -9.00;-10.25; color discrimination: full; fundus: optic nerve: tilted; tessellated, myopic fundus; Goldmann visual field: mild I-2e depression (full to I-4e) both eyes; sensitivity threshold test: -36.0;-35.5; full field electroretinography: electronegativedark adaptation 3.0 ERG; spectral-domain optical coherence tomography macula, central subfield thickness (um), central volume (mm2) right / left eye: 233 um, 8.56 mm2 / 235 um, 7.91 mm2"	">8m"	"<10y"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"opsoclonus"	""
"0000306355"	"04214"	"00414556"	"00000"	"Familial, autosomal recessive"	"26y"	"refractive error: high myopia; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 78, implicit time: 31; mixed amplitude: a-wave: 270, b-wave: 139; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306356"	"04214"	"00414557"	"00000"	"Familial, autosomal recessive"	"7y"	"refractive error: not available; best corrected visual acuity: 0.1; full field electroretinography, flicker: amplitude: 135, implicit time: 32.3; mixed amplitude: a-wave: 300, b-wave: 142; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306357"	"04214"	"00414558"	"00000"	"Familial, autosomal recessive"	"14y"	"refractive error: not available; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 105, implicit time: 32.2; mixed amplitude: a-wave: 339, b-wave: 214; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306358"	"04214"	"00414559"	"00000"	"Familial, autosomal recessive"	"11y"	"refractive error: -6.8; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 80, implicit time: 32; mixed amplitude: a-wave: 281, b-wave: 193; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306359"	"04214"	"00414560"	"00000"	"Familial, autosomal recessive"	"8y"	"refractive error: not available; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 103, implicit time: 32; mixed amplitude: a-wave: 304, b-wave: 189; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306360"	"04214"	"00414561"	"00000"	"Familial, autosomal recessive"	"7y"	"refractive error: not available; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 95, implicit time: 32.4; mixed amplitude: a-wave: 235, b-wave: 63; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306361"	"04214"	"00414562"	"00000"	"Familial, autosomal recessive"	"14y"	"refractive error: -12; best corrected visual acuity: 0.5; full field electroretinography, flicker: amplitude: 107, implicit time: 32.4; mixed amplitude: a-wave: 265, b-wave: 163; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306362"	"04214"	"00414563"	"00000"	"Familial, autosomal recessive"	"22y"	"refractive error: -9.5; best corrected visual acuity: 0.1; full field electroretinography, flicker: amplitude: 65, implicit time: 34; mixed amplitude: a-wave: 66, b-wave: 60; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306363"	"04214"	"00414564"	"00000"	"Familial, autosomal recessive"	"10y"	"refractive error: -9.5; best corrected visual acuity: 0.4; full field electroretinography, flicker: amplitude: 80, implicit time: 35.4; mixed amplitude: a-wave: Decreased, b-wave: Decreased; rod response: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306364"	"04214"	"00414565"	"00000"	"Familial, autosomal recessive"	"15y"	"refractive error: high myopia; best corrected visual acuity: 0.7; full field electroretinography, flicker: amplitude: 73, implicit time: 33.2; mixed amplitude: a-wave: 180, b-wave: 120; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306365"	"04214"	"00414566"	"00000"	"Familial, autosomal recessive"	"18y"	"refractive error: high myopia; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 62, implicit time: 36.3; mixed amplitude: a-wave: 174, b-wave: 145; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306366"	"04214"	"00414567"	"00000"	"Familial, autosomal recessive"	"11y"	"refractive error: -8; best corrected visual acuity: 0.4; full field electroretinography, flicker: amplitude: 140, implicit time: 32; mixed amplitude: a-wave: not available, b-wave: not available; rod response: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306367"	"04214"	"00414568"	"00000"	"Familial, autosomal recessive"	"11y"	"refractive error: -6.5; best corrected visual acuity: 0.7; full field electroretinography, flicker: amplitude: 70, implicit time: 31.5; mixed amplitude: a-wave: not available, b-wave: not available; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306368"	"04214"	"00414569"	"00000"	"Familial, autosomal recessive"	"4y"	"refractive error: -6; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 120, implicit time: 34; mixed amplitude: a-wave: WNL, b-wave: severely reduced; rod response: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306369"	"04214"	"00414570"	"00000"	"Familial, autosomal recessive"	"48y"	"refractive error: not available; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 90, implicit time: 30.8; mixed amplitude: a-wave: 198, b-wave: 149; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306370"	"04214"	"00414571"	"00000"	"Familial, autosomal recessive"	"13y"	"refractive error: -7; best corrected visual acuity: 0.5; full field electroretinography, flicker: amplitude: 89, implicit time: 32; mixed amplitude: a-wave: 261, b-wave: 115; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306371"	"04214"	"00414572"	"00000"	"Familial, autosomal recessive"	"21y"	"refractive error: -13; best corrected visual acuity: 0.2; full field electroretinography, flicker: amplitude: 100, implicit time: 32.5; mixed amplitude: a-wave: 177, b-wave: 89; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306372"	"04214"	"00414573"	"00000"	"Familial, autosomal recessive"	"8y"	"refractive error: -4.5; best corrected visual acuity: 0.6; full field electroretinography, flicker: amplitude: 103, implicit time: 32.5; mixed amplitude: a-wave: WNL, b-wave: severely reduced; rod response: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306373"	"04214"	"00414574"	"00000"	"Familial, autosomal recessive"	"8y"	"refractive error: -6.25; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 80, implicit time: 33.5; mixed amplitude: a-wave: , b-wave: ; rod response: severely reduced"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306374"	"04214"	"00414575"	"00000"	"Familial, autosomal recessive"	"9y"	"refractive error: -7.5; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 66, implicit time: 36.5; mixed amplitude: a-wave: , b-wave: ; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306375"	"04214"	"00414576"	"00000"	"Familial, autosomal recessive"	"2y"	"refractive error: -8; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 71, implicit time: 30.5; mixed amplitude: a-wave: WNL, b-wave: severely reduced; rod response: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306376"	"04214"	"00414577"	"00000"	"Familial, autosomal recessive"	"9y"	"refractive error: -4.5; best corrected visual acuity: 0.5; full field electroretinography, flicker: amplitude: 82, implicit time: 32"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306377"	"04214"	"00414578"	"00000"	"Familial, autosomal recessive"	"3y"	"refractive error: -1; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 60, implicit time: 37; mixed amplitude: a-wave: 110, b-wave: 68; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306378"	"04214"	"00414579"	"00000"	"Familial, autosomal recessive"	"13y"	"refractive error: -5.5; best corrected visual acuity: 0.3; full field electroretinography: ; rod response: 39"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306379"	"04214"	"00414580"	"00000"	"Familial, autosomal recessive"	"19y"	"refractive error: -3.5; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 30, implicit time: 31; mixed amplitude: a-wave: 30, b-wave: 56; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306380"	"04214"	"00414581"	"00000"	"Familial, autosomal recessive"	"14y"	"refractive error: -7; best corrected visual acuity: 0.4; full field electroretinography, flicker: amplitude: 82, implicit time: 34; mixed amplitude: a-wave: 40, b-wave: 73; rod response: 43"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306381"	"04214"	"00414582"	"00000"	"Familial, autosomal recessive"	"8y"	"refractive error: -7.5; best corrected visual acuity: 0.6; full field electroretinography: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306382"	"04214"	"00414583"	"00000"	"Familial, autosomal recessive"	"5y"	"refractive error: -7.25; best corrected visual acuity: 1; full field electroretinography, flicker: amplitude: 46, implicit time: 30; mixed amplitude: a-wave: 38, b-wave: 47; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306383"	"04214"	"00414584"	"00000"	"Familial, autosomal recessive"	"18y"	"refractive error: -5.5; best corrected visual acuity: 0.5; full field electroretinography: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306384"	"04214"	"00414585"	"00000"	"Familial, autosomal recessive"	"10y"	"refractive error: -13.5; best corrected visual acuity: 0.1; full field electroretinography, flicker: amplitude: 63, implicit time: 33.8; mixed amplitude: a-wave: 148, b-wave: 77; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306385"	"04214"	"00414586"	"00000"	"Familial, autosomal recessive"	"28y"	"refractive error: -18; best corrected visual acuity: 0.5; full field electroretinography, flicker: amplitude: 81, implicit time: 32; mixed amplitude: a-wave: 121, b-wave: 75; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306386"	"04214"	"00414587"	"00000"	"Familial, autosomal recessive"	"24y"	"refractive error: -7.9; best corrected visual acuity: 0.5; full field electroretinography, flicker: amplitude: 70, implicit time: 30.3; mixed amplitude: a-wave: 175, b-wave: 82; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306387"	"04214"	"00414588"	"00000"	"Familial, autosomal recessive"	"9y"	"refractive error: -7.5; best corrected visual acuity: not available; full field electroretinography, flicker: amplitude: 56, implicit time: 34.5; mixed amplitude: a-wave: 98, b-wave: 110; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306388"	"04214"	"00414589"	"00000"	"Familial, autosomal recessive"	"12y"	"refractive error: -2.3; best corrected visual acuity: 0.8; full field electroretinography, flicker: amplitude: 72, implicit time: 30.8; mixed amplitude: a-wave: 142, b-wave: 92; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306389"	"04214"	"00414590"	"00000"	"Familial, autosomal recessive"	"17y"	"refractive error: -11; best corrected visual acuity: 0.9; full field electroretinography, flicker: amplitude: 40, implicit time: 34.3; mixed amplitude: a-wave: 91, b-wave: 65; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306390"	"04214"	"00414591"	"00000"	"Familial, autosomal recessive"	"17y"	"refractive error: -1.5; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 82, implicit time: 31.8; mixed amplitude: a-wave: 196, b-wave: 131; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306391"	"04214"	"00414592"	"00000"	"Familial, autosomal recessive"	"45y"	"refractive error: myopia; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 65, implicit time: 32.5; mixed amplitude: a-wave: 149, b-wave: 89; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306392"	"04214"	"00414593"	"00000"	"Familial, autosomal recessive"	"18y"	"refractive error: -7; best corrected visual acuity: 0.4; full field electroretinography, flicker: amplitude: 53, implicit time: 34; mixed amplitude: a-wave: 86, b-wave: 78; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306393"	"04214"	"00414594"	"00000"	"Familial, autosomal recessive"	"11y"	"refractive error: -3.6; best corrected visual acuity: 0.3; full field electroretinography, flicker: amplitude: 83, implicit time: 32.5; mixed amplitude: a-wave: 102, b-wave: 49; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306394"	"04214"	"00414595"	"00000"	"Familial, autosomal recessive"	"36y"	"refractive error: -16; best corrected visual acuity: 0.8; full field electroretinography, flicker: amplitude: 58, implicit time: 31.5; mixed amplitude: a-wave: 103, b-wave: 76; rod response: absent"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306395"	"04214"	"00414596"	"00000"	"Familial, autosomal recessive"	"2y6m"	"refractive error: -9.25; best corrected visual acuity: fix, follow and maintain; full field electroretinography, flicker: amplitude: 84, implicit time: 35; mixed amplitude: a-wave: WNL, b-wave: severely reduced; rod response: not available"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306396"	"04214"	"00414597"	"00000"	"Familial, autosomal recessive"	"1y6m"	"refractive error: -5; best corrected visual acuity: fix, follow and maintain; full field electroretinography, flicker: amplitude: 45, implicit time: 33"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306397"	"04214"	"00414598"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306398"	"04214"	"00414599"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306399"	"04214"	"00414600"	"00000"	"Familial, autosomal recessive"	"9y"	"age at examinations (y): 4, 9; best corrected visual acuity right, left eye first visit; recent visit: 2060, 2060; 20/40, 20/25; refraction right, left eye:  -11.25 +1.25 x110 (-10.5), -12.00 +3.00 x85 (-10.5); axial length (mm) right, left eye: 27.68, 27.27; optical coherence tomography - foveal thickness right, left eye: 212, 216; electroretinogram: rod amplitude: 0, implicit time: -; rod- cone a-wave: 17016; rod- cone b-wave: 101, implicit time: 30; cone a-wave: 85, implicit time: 19; cone b-wave: 84, implicit time: 37; 30 Hz flicker: 69, implicit time: 34"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306400"	"04214"	"00414601"	"00000"	"Familial, autosomal recessive"	"5y"	"age at examinations (y): 4, 5; best corrected visual acuity right, left eye first visit; recent visit: 2060, 2040; 2080, 2030 (amblyopia right eye) ; refraction right, left eye: -; axial length (mm) right, left eye: 27.39, 26.68; optical coherence tomography - foveal thickness right, left eye: 198, 205; electroretinogram: rod amplitude: 0, implicit time: -; rod- cone a-wave: 11622; rod- cone b-wave: 59, implicit time: 35; cone a-wave: 64, implicit time: 22; cone b-wave: 69, implicit time: 39; 30 Hz flicker: 58, implicit time: 33"	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""	""
"0000306967"	"05130"	"00415167"	"04364"	"Familial, autosomal recessive"	"10y"	"CSNB"	""	"35y"	""	""	""	""	""	""	""	""	""	"CSNB"	"CSNB"	""
"0000306968"	"05130"	"00415168"	"04364"	"Familial, autosomal recessive"	"14y"	"CSNB"	""	"14y"	""	""	""	""	""	""	""	""	""	"CSNB"	"CSNB"	""
"0000306974"	"05130"	"00415175"	"04364"	"Familial, autosomal recessive"	"06y"	"CSNB"	""	"06y"	"6y"	""	""	""	""	""	""	""	""	"CSNB"	"CSNB"	""
"0000318044"	"04214"	"00426906"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	"cone dystrophy"	""
"0000318050"	"04214"	"00426912"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"achromatopsia"	"cone dystrophy"	""
"0000318051"	"04214"	"00426913"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	"cone dystrophy"	""
"0000318055"	"04214"	"00426917"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"congenital stationary night blindness"	""
"0000318058"	"04214"	"00426920"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"congenital stationary night blindness"	""
"0000318059"	"04214"	"00426921"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	"congenital stationary night blindness"	""
"0000318068"	"04214"	"00426930"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000320833"	"04214"	"00429961"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320941"	"04214"	"00430069"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336328"	"00198"	"00447129"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000336525"	"00198"	"00447326"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336752"	"00198"	"00447553"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000336870"	"00198"	"00447671"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000351477"	"04280"	"00466091"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., colorectal polyps"	""	""	""	""	""	""	""	""	""	""	""	"HMPS"	"attenuated/atypical polyposis syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 216
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033258"	"00033190"	"1"	"00229"	"00229"	"2012-02-13 09:19:47"	"00006"	"2012-05-18 13:59:34"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000033659"	"00033591"	"1"	"00243"	"00243"	"2013-07-16 11:26:45"	""	""	"SEQ"	"DNA"	""	""
"0000033660"	"00033592"	"1"	"00243"	"00243"	"2013-07-16 11:29:33"	""	""	"SEQ"	"DNA"	""	""
"0000033661"	"00033593"	"1"	"00243"	"00243"	"2013-07-16 11:32:29"	""	""	"SEQ"	"DNA"	""	""
"0000033662"	"00033594"	"1"	"00243"	"00243"	"2013-07-16 11:34:41"	""	""	"SEQ"	"DNA"	""	""
"0000033663"	"00033595"	"1"	"00243"	"00243"	"2013-07-16 11:41:36"	""	""	"SEQ"	"DNA"	""	""
"0000033664"	"00033596"	"1"	"00243"	"00243"	"2013-07-16 11:44:02"	""	""	"SEQ"	"DNA"	""	""
"0000050360"	"00050415"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050404"	"00050459"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050497"	"00050552"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000144774"	"00143915"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000156418"	"00155553"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156419"	"00155554"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156420"	"00155555"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000156421"	"00155556"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000230686"	"00229593"	"1"	"01807"	"01807"	"2019-04-04 13:49:13"	""	""	"SEQ"	"DNA"	""	""
"0000292336"	"00291168"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292337"	"00291169"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292338"	"00291170"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292339"	"00291171"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292340"	"00291172"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292341"	"00291173"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000300752"	"00299642"	"1"	"00006"	"00006"	"2020-04-18 08:53:03"	"00006"	"2020-04-18 09:16:30"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000309821"	"00308676"	"1"	"00004"	"00006"	"2020-08-27 14:47:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"204 gene panel"
"0000310578"	"00309433"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310579"	"00309434"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310580"	"00309435"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310581"	"00309436"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310582"	"00309437"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000317207"	"00316025"	"1"	"00006"	"00006"	"2020-11-01 16:34:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328674"	"00327461"	"1"	"03980"	"03980"	"2021-01-21 20:49:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000329179"	"00327964"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329251"	"00328036"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329259"	"00328044"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329384"	"00328169"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329487"	"00328272"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES and WGS"
"0000329631"	"00328417"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329695"	"00328480"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000329696"	"00328481"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000329697"	"00328482"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000329718"	"00328503"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000333761"	"00332537"	"1"	"00000"	"00006"	"2021-02-20 09:48:27"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000334588"	"00333363"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000334639"	"00333414"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334640"	"00333415"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000334646"	"00333421"	"1"	"00000"	"00006"	"2021-02-25 11:52:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"184-gene panel"
"0000335218"	"00333992"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000335219"	"00333993"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000360213"	"00358976"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364914"	"00363686"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373940"	"00372708"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374614"	"00373379"	"1"	"00000"	"00006"	"2021-05-14 10:24:46"	""	""	"PE;SEQ"	"DNA"	""	"APEX"
"0000376585"	"00375388"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376586"	"00375389"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376587"	"00375390"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376588"	"00375391"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376589"	"00375392"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376590"	"00375393"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376591"	"00375394"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376592"	"00375395"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376593"	"00375396"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376594"	"00375397"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376595"	"00375398"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376596"	"00375399"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376597"	"00375400"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376598"	"00375401"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376599"	"00375402"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376603"	"00375406"	"1"	"00000"	"00006"	"2021-06-03 10:21:34"	""	""	"SEQ"	"DNA"	""	""
"0000376623"	"00375426"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376625"	"00375428"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378051"	"00376846"	"1"	"00000"	"00006"	"2021-06-25 16:50:55"	""	""	"SEQ"	"DNA"	""	"5-gene panel"
"0000378052"	"00376847"	"1"	"00000"	"00006"	"2021-06-25 16:50:55"	""	""	"SEQ"	"DNA"	""	"5-gene panel"
"0000378054"	"00376849"	"1"	"00000"	"00006"	"2021-06-25 16:50:55"	""	""	"SEQ"	"DNA"	""	"5-gene panel"
"0000378055"	"00376850"	"1"	"00000"	"00006"	"2021-06-25 16:50:55"	""	""	"SEQ"	"DNA"	""	"5-gene panel"
"0000378056"	"00376851"	"1"	"00000"	"00006"	"2021-06-25 16:50:55"	""	""	"SEQ"	"DNA"	""	"5-gene panel"
"0000378057"	"00376852"	"1"	"00000"	"00006"	"2021-06-25 16:50:55"	""	""	"SEQ"	"DNA"	""	"5-gene panel"
"0000379145"	"00377941"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000379146"	"00377942"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000379159"	"00377955"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000379162"	"00377958"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000380629"	"00379429"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000381099"	"00379897"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000382472"	"00381257"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382473"	"00381258"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382474"	"00381259"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382475"	"00381260"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382476"	"00381261"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382477"	"00381262"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382478"	"00381263"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382479"	"00381264"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000382480"	"00381265"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000383523"	"00382309"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383793"	"00382579"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383820"	"00382606"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000384686"	"00383461"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384687"	"00383462"	"1"	"00000"	"03840"	"2021-09-29 09:58:40"	""	""	"?"	"DNA"	""	"retrospective study"
"0000384747"	"00383522"	"1"	"00000"	"03840"	"2021-09-29 12:00:07"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"204 genes associated with inherited retinal disorders; see paper"
"0000385522"	"00384297"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386399"	"00385170"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"176 genes panel"
"0000387918"	"00386690"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000388055"	"00386827"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388867"	"00387641"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000388868"	"00387642"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000389711"	"00388470"	"1"	"00000"	"00008"	"2021-11-04 08:27:28"	""	""	"SEQ-NG"	"DNA"	""	"CNV gene panel next-generation sequencing"
"0000391647"	"00390406"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391648"	"00390407"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391649"	"00390408"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391650"	"00390409"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391985"	"00390744"	"1"	"00000"	"03840"	"2021-11-11 19:27:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000392830"	"00391588"	"1"	"00000"	"03840"	"2021-11-17 14:55:16"	""	""	"?"	"DNA"	"blood"	"NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families"
"0000394879"	"00393631"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000397651"	"00396410"	"1"	"00006"	"00006"	"2021-12-15 14:29:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000415480"	"00414201"	"1"	"00000"	"03840"	"2022-07-27 15:11:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415481"	"00414202"	"1"	"00000"	"03840"	"2022-07-27 15:11:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415482"	"00414203"	"1"	"00000"	"03840"	"2022-07-27 15:11:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415483"	"00414204"	"1"	"00000"	"03840"	"2022-07-27 15:11:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415484"	"00414205"	"1"	"00000"	"03840"	"2022-07-27 15:11:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415485"	"00414206"	"1"	"00000"	"03840"	"2022-07-27 15:11:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415487"	"00414207"	"1"	"00000"	"03840"	"2022-07-27 17:19:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415488"	"00414208"	"1"	"00000"	"03840"	"2022-07-27 17:19:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415489"	"00414209"	"1"	"00000"	"03840"	"2022-07-27 17:19:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415490"	"00414210"	"1"	"00000"	"03840"	"2022-07-27 17:19:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415491"	"00414211"	"1"	"00000"	"03840"	"2022-07-27 17:19:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415492"	"00414212"	"1"	"00000"	"03840"	"2022-07-27 17:19:04"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415542"	"00414262"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415543"	"00414263"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415544"	"00414264"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415545"	"00414265"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415546"	"00414266"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415547"	"00414267"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415548"	"00414268"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415549"	"00414269"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415550"	"00414270"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415551"	"00414271"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415552"	"00414272"	"1"	"00000"	"03840"	"2022-07-28 11:52:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415555"	"00414275"	"1"	"00000"	"03840"	"2022-07-28 12:46:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415556"	"00414276"	"1"	"00000"	"03840"	"2022-07-28 12:46:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415557"	"00414277"	"1"	"00000"	"03840"	"2022-07-28 12:46:36"	""	""	"SEQ"	"DNA"	"blood"	""
"0000415766"	"00414486"	"1"	"00000"	"03840"	"2022-07-28 14:10:08"	""	""	"SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (known CSNB genes)"
"0000415767"	"00414487"	"1"	"00000"	"03840"	"2022-07-28 14:10:08"	""	""	"SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (known CSNB genes)"
"0000415813"	"00414532"	"1"	"00000"	"03840"	"2022-07-28 18:01:49"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (known CSNB genes)"
"0000415814"	"00414533"	"1"	"00000"	"03840"	"2022-07-28 18:01:49"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (known CSNB genes)"
"0000415815"	"00414534"	"1"	"00000"	"03840"	"2022-07-28 18:01:49"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (known CSNB genes)"
"0000415816"	"00414535"	"1"	"00000"	"03840"	"2022-07-28 18:01:49"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing (known CSNB genes)"
"0000415829"	"00414548"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415830"	"00414549"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415831"	"00414550"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415832"	"00414551"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415833"	"00414552"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415834"	"00414553"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415835"	"00414554"	"1"	"00000"	"03840"	"2022-07-29 10:40:46"	""	""	"?"	"DNA"	""	"retrospective medical record review"
"0000415837"	"00414556"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415838"	"00414557"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415839"	"00414558"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415840"	"00414559"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415841"	"00414560"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415842"	"00414561"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415843"	"00414562"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415844"	"00414563"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415845"	"00414564"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415846"	"00414565"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415847"	"00414566"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415848"	"00414567"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415849"	"00414568"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415850"	"00414569"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415851"	"00414570"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415852"	"00414571"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415853"	"00414572"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415854"	"00414573"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415855"	"00414574"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415856"	"00414575"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415857"	"00414576"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415858"	"00414577"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415859"	"00414578"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415860"	"00414579"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415861"	"00414580"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415862"	"00414581"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415863"	"00414582"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415864"	"00414583"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415865"	"00414584"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415866"	"00414585"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415867"	"00414586"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415868"	"00414587"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415869"	"00414588"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415870"	"00414589"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415871"	"00414590"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415872"	"00414591"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415873"	"00414592"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415874"	"00414593"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415875"	"00414594"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415876"	"00414595"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415877"	"00414596"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415878"	"00414597"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415879"	"00414598"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415880"	"00414599"	"1"	"00000"	"03840"	"2022-07-29 12:13:59"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	""
"0000415881"	"00414600"	"1"	"00000"	"03840"	"2022-07-29 12:50:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000415882"	"00414601"	"1"	"00000"	"03840"	"2022-07-29 12:50:15"	""	""	"SEQ"	"DNA"	"blood"	""
"0000416326"	"00415045"	"1"	"04364"	"04364"	"2022-08-06 11:15:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000416448"	"00415167"	"1"	"04364"	"04364"	"2022-08-09 08:39:54"	""	""	"SEQ-NG"	"DNA"	""	""
"0000416449"	"00415168"	"1"	"04364"	"04364"	"2022-08-09 11:21:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000416452"	"00415171"	"1"	"04364"	"04364"	"2022-08-09 12:02:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000416458"	"00415175"	"1"	"04364"	"04364"	"2022-08-09 12:58:13"	""	""	"SEQ-NG"	"DNA"	""	""
"0000428226"	"00426906"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428232"	"00426912"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428233"	"00426913"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428237"	"00426917"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428240"	"00426920"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428241"	"00426921"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428250"	"00426930"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000431374"	"00429961"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431482"	"00430069"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448706"	"00447129"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000448903"	"00447326"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449130"	"00447553"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449248"	"00447671"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000467748"	"00466091"	"1"	"00006"	"00006"	"2025-08-05 16:15:08"	""	""	"arraySNP;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 192
"{{screeningid}}"	"{{geneid}}"
"0000033258"	"TRPM1"
"0000033659"	"TRPM1"
"0000033660"	"TRPM1"
"0000033661"	"TRPM1"
"0000033662"	"TRPM1"
"0000033663"	"TRPM1"
"0000033664"	"TRPM1"
"0000144774"	"EYS"
"0000156418"	"TRPM1"
"0000156419"	"TRPM1"
"0000156420"	"TRPM1"
"0000156421"	"TRPM1"
"0000300752"	"ARHGEF18"
"0000309821"	"TRPM1"
"0000310578"	"TRPM1"
"0000310579"	"TRPM1"
"0000310580"	"TRPM1"
"0000310581"	"TRPM1"
"0000310582"	"TRPM1"
"0000317207"	"SCN4A"
"0000329179"	"TRPM1"
"0000329251"	"TRPM1"
"0000329259"	"TRPM1"
"0000329384"	"TRPM1"
"0000329487"	"TRPM1"
"0000329631"	"TRPM1"
"0000329695"	"TRPM1"
"0000329696"	"TRPM1"
"0000329697"	"TRPM1"
"0000329718"	"TRPM1"
"0000333761"	"TRPM1"
"0000334639"	"TRPM1"
"0000334640"	"TRPM1"
"0000335218"	"TRPM1"
"0000335219"	"TRPM1"
"0000364914"	"TRPM1"
"0000376585"	"TRPM1"
"0000376586"	"TRPM1"
"0000376587"	"TRPM1"
"0000376588"	"TRPM1"
"0000376589"	"TRPM1"
"0000376590"	"TRPM1"
"0000376591"	"TRPM1"
"0000376592"	"TRPM1"
"0000376593"	"TRPM1"
"0000376594"	"TRPM1"
"0000376595"	"TRPM1"
"0000376596"	"TRPM1"
"0000376597"	"TRPM1"
"0000376598"	"TRPM1"
"0000376599"	"TRPM1"
"0000376603"	"TRPM1"
"0000378051"	"TRPM1"
"0000378052"	"TRPM1"
"0000378054"	"TRPM1"
"0000378055"	"TRPM1"
"0000378056"	"TRPM1"
"0000378057"	"TRPM1"
"0000379145"	"TRPM1"
"0000379146"	"BEST1"
"0000379159"	"GUCY2D"
"0000379162"	"TRPM1"
"0000380629"	"TRPM1"
"0000381099"	"TRPM1"
"0000382472"	"TRPM1"
"0000382473"	"TRPM1"
"0000382474"	"TRPM1"
"0000382475"	"TRPM1"
"0000382476"	"TRPM1"
"0000382477"	"TRPM1"
"0000382478"	"TRPM1"
"0000382479"	"TRPM1"
"0000382480"	"TRPM1"
"0000383523"	"GRK1"
"0000383793"	"TRPM1"
"0000383820"	"TRPM1"
"0000384686"	"TRPM1"
"0000384687"	"TRPM1"
"0000384747"	"TRPM1"
"0000385522"	"TRPM1"
"0000386399"	"TRPM1"
"0000387918"	"TRPM1"
"0000388055"	"TRPM1"
"0000388867"	"TRPM1"
"0000388868"	"TRPM1"
"0000389711"	"TRPM1"
"0000391647"	"TRPM1"
"0000391648"	"TRPM1"
"0000391649"	"TRPM1"
"0000391650"	"TRPM1"
"0000391985"	"TRPM1"
"0000392830"	"TRPM1"
"0000394879"	"TRPM1"
"0000415480"	"TRPM1"
"0000415481"	"TRPM1"
"0000415482"	"TRPM1"
"0000415483"	"TRPM1"
"0000415484"	"TRPM1"
"0000415485"	"TRPM1"
"0000415487"	"TRPM1"
"0000415488"	"TRPM1"
"0000415489"	"TRPM1"
"0000415490"	"TRPM1"
"0000415491"	"TRPM1"
"0000415492"	"TRPM1"
"0000415542"	"TRPM1"
"0000415543"	"TRPM1"
"0000415544"	"TRPM1"
"0000415545"	"TRPM1"
"0000415546"	"TRPM1"
"0000415547"	"TRPM1"
"0000415548"	"TRPM1"
"0000415549"	"TRPM1"
"0000415550"	"TRPM1"
"0000415551"	"TRPM1"
"0000415552"	"TRPM1"
"0000415555"	"TRPM1"
"0000415556"	"TRPM1"
"0000415557"	"TRPM1"
"0000415766"	"TRPM1"
"0000415767"	"TRPM1"
"0000415813"	"TRPM1"
"0000415814"	"TRPM1"
"0000415815"	"TRPM1"
"0000415816"	"TRPM1"
"0000415829"	"TRPM1"
"0000415830"	"TRPM1"
"0000415831"	"TRPM1"
"0000415832"	"TRPM1"
"0000415833"	"TRPM1"
"0000415834"	"TRPM1"
"0000415835"	"TRPM1"
"0000415837"	"TRPM1"
"0000415838"	"TRPM1"
"0000415839"	"TRPM1"
"0000415840"	"TRPM1"
"0000415841"	"TRPM1"
"0000415842"	"TRPM1"
"0000415843"	"TRPM1"
"0000415844"	"TRPM1"
"0000415845"	"TRPM1"
"0000415846"	"TRPM1"
"0000415847"	"TRPM1"
"0000415848"	"TRPM1"
"0000415849"	"TRPM1"
"0000415850"	"TRPM1"
"0000415851"	"TRPM1"
"0000415852"	"TRPM1"
"0000415853"	"TRPM1"
"0000415854"	"TRPM1"
"0000415855"	"TRPM1"
"0000415856"	"TRPM1"
"0000415857"	"TRPM1"
"0000415858"	"TRPM1"
"0000415859"	"TRPM1"
"0000415860"	"TRPM1"
"0000415861"	"TRPM1"
"0000415862"	"TRPM1"
"0000415863"	"TRPM1"
"0000415864"	"TRPM1"
"0000415865"	"TRPM1"
"0000415866"	"TRPM1"
"0000415867"	"TRPM1"
"0000415868"	"TRPM1"
"0000415869"	"TRPM1"
"0000415870"	"TRPM1"
"0000415871"	"TRPM1"
"0000415872"	"TRPM1"
"0000415873"	"TRPM1"
"0000415874"	"TRPM1"
"0000415875"	"TRPM1"
"0000415876"	"TRPM1"
"0000415877"	"TRPM1"
"0000415878"	"TRPM1"
"0000415879"	"TRPM1"
"0000415880"	"TRPM1"
"0000415881"	"TRPM1"
"0000415882"	"TRPM1"
"0000416326"	"TRPM1"
"0000416448"	"TRPM1"
"0000416449"	"TRPM1"
"0000416452"	"TRPM1"
"0000416458"	"TRPM1"
"0000428226"	"CNGB3"
"0000428232"	"CNGB3"
"0000428233"	"KCNV2"
"0000428237"	"TRPM1"
"0000428240"	"TRPM1"
"0000428241"	"TRPM1"
"0000428250"	"RDH12"
"0000431374"	"TRPM1"
"0000431482"	"TRPM1"


## 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 = 428
"{{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}}"
"0000060543"	"1"	"70"	"15"	"31325131"	"31325131"	"subst"	"4.06365E-6"	"00229"	"TRPM1_000001"	"g.31325131C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	"yes"	""	"0"	""	""	"g.31032928C>T"	""	"likely pathogenic"	""
"0000060544"	"2"	"50"	"15"	"31294996"	"31294996"	"subst"	"0"	"00229"	"TRPM1_000002"	"g.31294996T>C"	""	"{PMID:Neveling 2012:22334370}"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	"g.31002793T>C"	""	"VUS"	""
"0000060545"	"10"	"90"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00243"	"TRPM1_000003"	"g.31334305G>A"	"3/228"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31042102G>A"	""	"pathogenic"	""
"0000060546"	"20"	"90"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00243"	"TRPM1_000003"	"g.31334305G>A"	"3/228"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31042102G>A"	""	"pathogenic"	""
"0000060547"	"11"	"90"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00243"	"TRPM1_000003"	"g.31334305G>A"	"3/228"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31042102G>A"	""	"pathogenic"	""
"0000060548"	"3"	"90"	"15"	"31319221"	"31319222"	"dup"	"0"	"00243"	"TRPM1_000004"	"g.31319221_31319222dup"	""	""	""	"3326_3327dupC"	"DNA description is not correct c.3326_3327dup would be dupCA"	"Germline"	""	""	"0"	""	""	"g.31027018_31027019dup"	""	"pathogenic"	""
"0000060550"	"10"	"90"	"15"	"31360093"	"31360093"	"subst"	"0"	"00243"	"TRPM1_000005"	"g.31360093C>A"	"2/234"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067890C>A"	""	"pathogenic"	""
"0000060551"	"20"	"90"	"15"	"31360093"	"31360093"	"subst"	"0"	"00243"	"TRPM1_000005"	"g.31360093C>A"	"2/234"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067890C>A"	""	"pathogenic"	""
"0000060552"	"10"	"50"	"15"	"31360111"	"31360111"	"subst"	"0"	"00243"	"TRPM1_000006"	"g.31360111G>T"	"2/234"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067908G>T"	""	"VUS"	""
"0000060553"	"20"	"50"	"15"	"31360111"	"31360111"	"subst"	"0"	"00243"	"TRPM1_000006"	"g.31360111G>T"	"2/234"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067908G>T"	""	"VUS"	""
"0000060554"	"20"	"90"	"15"	"31324995"	"31324995"	"subst"	"2.84259E-5"	"00243"	"TRPM1_000007"	"g.31324995C>T"	"1/222"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.31032792C>T"	""	"pathogenic"	""
"0000060556"	"3"	"90"	"15"	"31355363"	"31355363"	"subst"	"1.21888E-5"	"00243"	"TRPM1_000008"	"g.31355363G>A"	""	""	""	"856C>T"	""	"Germline"	""	""	"0"	""	""	"g.31063160G>A"	""	"pathogenic"	""
"0000079340"	"0"	"90"	"15"	"30384204"	"32921879"	"del"	"0"	"00006"	"ARHGAP11A_000002"	"g.30384204_32921879del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000079384"	"11"	"90"	"15"	"30913566"	"32713989"	"del"	"0"	"00006"	"ARHGAP11B_000001"	"g.30913566_32713989del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000079477"	"21"	"90"	"15"	"30665145"	"32921879"	"del"	"0"	"00006"	"ARHGAP11A_000001"	"g.30665145_32921879del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000247338"	"0"	"10"	"15"	"31324905"	"31324905"	"subst"	"8.12354E-6"	"02330"	"TRPM1_000029"	"g.31324905A>G"	""	""	""	"TRPM1(NM_001252020.2):c.2990T>C (p.M997T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31032702A>G"	""	"benign"	""
"0000247342"	"0"	"10"	"15"	"31340152"	"31340152"	"subst"	"0.00171831"	"02330"	"TRPM1_000040"	"g.31340152A>G"	""	""	""	"TRPM1(NM_001252020.1):c.1624-10T>C, TRPM1(NM_001252020.2):c.1624-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31047949A>G"	""	"benign"	""
"0000255845"	"0"	"30"	"15"	"31294933"	"31294933"	"subst"	"0.000227446"	"01943"	"TRPM1_000016"	"g.31294933A>G"	""	""	""	"TRPM1(NM_001252020.1):c.4021T>C (p.C1341R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002730A>G"	""	"likely benign"	""
"0000256206"	"0"	"50"	"15"	"31320637"	"31320637"	"subst"	"5.68542E-5"	"01943"	"TRPM1_000022"	"g.31320637A>C"	""	""	""	"TRPM1(NM_001252020.1):c.3242T>G (p.L1081R), TRPM1(NM_001252024.2):c.3191T>G (p.(Leu1064Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31028434A>C"	""	"VUS"	""
"0000309520"	"0"	"10"	"15"	"31453164"	"31453164"	"subst"	"0.000698131"	"02330"	"TRPM1_000097"	"g.31453164T>C"	""	""	""	"TRPM1(NM_001252020.2):c.-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31160961T>C"	""	"benign"	""
"0000309522"	"0"	"50"	"15"	"31342764"	"31342764"	"subst"	"0.00104231"	"02330"	"TRPM1_000044"	"g.31342764G>T"	""	""	""	"TRPM1(NM_001252020.1):c.1336C>A (p.P446T), TRPM1(NM_001252020.2):c.1336C>A (p.P446T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31050561G>T"	""	"VUS"	""
"0000309523"	"0"	"10"	"15"	"31342672"	"31342672"	"subst"	"4.10448E-6"	"02330"	"TRPM1_000043"	"g.31342672C>T"	""	""	""	"TRPM1(NM_001252020.2):c.1428G>A (p.G476=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31050469C>T"	""	"benign"	""
"0000309525"	"0"	"50"	"15"	"31341666"	"31341666"	"subst"	"0.00039797"	"02330"	"TRPM1_000041"	"g.31341666C>T"	""	""	""	"TRPM1(NM_001252020.2):c.1535G>A (p.R512H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31049463C>T"	""	"VUS"	""
"0000309526"	"0"	"10"	"15"	"31330025"	"31330025"	"subst"	"0.000109662"	"02330"	"TRPM1_000037"	"g.31330025G>C"	""	""	""	"TRPM1(NM_001252020.1):c.2511C>G (p.G837=), TRPM1(NM_001252020.2):c.2511C>G (p.G837=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31037822G>C"	""	"benign"	""
"0000309527"	"0"	"50"	"15"	"31327750"	"31327750"	"subst"	"4.06157E-6"	"02330"	"TRPM1_000031"	"g.31327750T>C"	""	""	""	"TRPM1(NM_001252020.2):c.2750A>G (p.E917G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31035547T>C"	""	"VUS"	""
"0000309529"	"0"	"30"	"15"	"31318422"	"31318422"	"subst"	"0.00364293"	"02330"	"TRPM1_000020"	"g.31318422C>G"	""	""	""	"TRPM1(NM_001252020.1):c.3600G>C (p.Q1200H), TRPM1(NM_001252020.2):c.3600G>C (p.Q1200H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31026219C>G"	""	"likely benign"	""
"0000309530"	"0"	"10"	"15"	"31294923"	"31294923"	"subst"	"0.00168156"	"02330"	"TRPM1_000015"	"g.31294923C>T"	""	""	""	"TRPM1(NM_001252020.2):c.4031G>A (p.R1344H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002720C>T"	""	"benign"	""
"0000309531"	"0"	"10"	"15"	"31294896"	"31294896"	"subst"	"0.00116174"	"02330"	"TRPM1_000014"	"g.31294896G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4058C>T (p.T1353M), TRPM1(NM_001252020.2):c.4058C>T (p.T1353M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002693G>A"	""	"benign"	""
"0000309532"	"0"	"10"	"15"	"31294573"	"31294573"	"subst"	"0.0012062"	"02330"	"TRPM1_000013"	"g.31294573G>C"	""	""	""	"TRPM1(NM_001252020.2):c.4381C>G (p.R1461G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002370G>C"	""	"benign"	""
"0000309533"	"0"	"10"	"15"	"31294451"	"31294451"	"subst"	"0.000154323"	"02330"	"TRPM1_000012"	"g.31294451C>G"	""	""	""	"TRPM1(NM_001252020.1):c.4503G>C (p.T1501=), TRPM1(NM_001252020.2):c.4503G>C (p.T1501=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002248C>G"	""	"benign"	""
"0000309534"	"0"	"50"	"15"	"31294258"	"31294258"	"subst"	"0.000134016"	"02330"	"TRPM1_000010"	"g.31294258C>G"	""	""	""	"TRPM1(NM_001252020.1):c.4696G>C (p.D1566H), TRPM1(NM_001252020.2):c.4696G>C (p.D1566H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002055C>G"	""	"VUS"	""
"0000309535"	"0"	"50"	"15"	"31360091"	"31360091"	"subst"	"0.000284599"	"02330"	"TRPM1_000051"	"g.31360091C>T"	""	""	""	"TRPM1(NM_001252020.2):c.535G>A (p.V179I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31067888C>T"	""	"VUS"	""
"0000309536"	"0"	"10"	"15"	"31359377"	"31359377"	"subst"	"0.000714761"	"02330"	"TRPM1_000050"	"g.31359377G>A"	""	""	""	"TRPM1(NM_001252020.2):c.558C>T (p.H186=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31067174G>A"	""	"benign"	""
"0000309537"	"0"	"10"	"15"	"31359284"	"31359284"	"subst"	"0.00168533"	"02330"	"TRPM1_000049"	"g.31359284T>C"	""	""	""	"TRPM1(NM_001252020.1):c.651A>G (p.E217=), TRPM1(NM_001252020.2):c.651A>G (p.E217=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31067081T>C"	""	"benign"	""
"0000309538"	"0"	"10"	"15"	"31358259"	"31358259"	"subst"	"0.0010812"	"02330"	"TRPM1_000047"	"g.31358259G>A"	""	""	""	"TRPM1(NM_001252020.2):c.841+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31066056G>A"	""	"benign"	""
"0000317127"	"0"	"50"	"15"	"31332488"	"31332488"	"subst"	"0.000117772"	"01943"	"TRPM1_000038"	"g.31332488C>T"	""	""	""	"TRPM1(NM_001252020.1):c.2200G>A (p.A734T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31040285C>T"	""	"VUS"	""
"0000317128"	"0"	"50"	"15"	"31332488"	"31332488"	"subst"	"0.00872327"	"01943"	"TRPM1_000039"	"g.31332488C>G"	""	""	""	"TRPM1(NM_001252020.1):c.2200G>C (p.A734P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31040285C>G"	""	"VUS"	""
"0000317129"	"0"	"50"	"15"	"31330000"	"31330000"	"subst"	"0.000251797"	"01943"	"TRPM1_000036"	"g.31330000C>T"	""	""	""	"TRPM1(NM_001252020.1):c.2536G>A (p.E846K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31037797C>T"	""	"VUS"	""
"0000317130"	"0"	"50"	"15"	"31327846"	"31327846"	"subst"	"0.000154323"	"01943"	"TRPM1_000034"	"g.31327846T>G"	""	""	""	"TRPM1(NM_001252020.1):c.2654A>C (p.N885T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31035643T>G"	""	"VUS"	""
"0000317131"	"0"	"50"	"15"	"31327772"	"31327772"	"subst"	"1.6245E-5"	"01943"	"TRPM1_000032"	"g.31327772G>C"	""	""	""	"TRPM1(NM_001252020.1):c.2728C>G (p.L910V), TRPM1(NM_001252024.2):c.2677C>G (p.(Leu893Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31035569G>C"	""	"VUS"	""
"0000317132"	"0"	"50"	"15"	"31325130"	"31325130"	"subst"	"0.000902094"	"01943"	"TRPM1_000030"	"g.31325130T>C"	""	""	""	"TRPM1(NM_001252020.1):c.2765A>G (p.E922G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31032927T>C"	""	"VUS"	""
"0000317133"	"0"	"30"	"15"	"31453136"	"31453136"	"subst"	"0.00143659"	"01943"	"TRPM1_000095"	"g.31453136G>A"	""	""	""	"TRPM1(NM_001252020.1):c.27C>T (p.L9=), TRPM1(NM_001252020.2):c.27C>T (p.L9=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31160933G>A"	""	"likely benign"	""
"0000317134"	"0"	"10"	"15"	"31362148"	"31362148"	"subst"	"0.00870999"	"01943"	"TRPM1_000052"	"g.31362148C>G"	""	""	""	"TRPM1(NM_001252030.1):c.299G>C (p.G100A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31069945C>G"	""	"benign"	""
"0000317135"	"0"	"50"	"15"	"31321574"	"31321574"	"subst"	"0.000150491"	"01943"	"TRPM1_000023"	"g.31321574G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3199C>T (p.P1067S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31029371G>A"	""	"VUS"	""
"0000317136"	"0"	"50"	"15"	"31318337"	"31318337"	"subst"	"0"	"01943"	"TRPM1_000019"	"g.31318337C>A"	""	""	""	"TRPM1(NM_001252020.1):c.3680+5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31026134C>A"	""	"VUS"	""
"0000317137"	"0"	"50"	"15"	"31295176"	"31295176"	"subst"	"2.58621E-5"	"01943"	"TRPM1_000018"	"g.31295176C>T"	""	""	""	"TRPM1(NM_001252020.1):c.3778G>A (p.E1260K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002973C>T"	""	"VUS"	""
"0000317138"	"0"	"30"	"15"	"31295162"	"31295162"	"subst"	"4.65991E-5"	"01943"	"TRPM1_000017"	"g.31295162G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3792C>T (p.N1264=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002959G>A"	""	"likely benign"	""
"0000317139"	"0"	"30"	"15"	"31294451"	"31294451"	"subst"	"0.000154323"	"01943"	"TRPM1_000012"	"g.31294451C>G"	""	""	""	"TRPM1(NM_001252020.1):c.4503G>C (p.T1501=), TRPM1(NM_001252020.2):c.4503G>C (p.T1501=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002248C>G"	""	"likely benign"	""
"0000317140"	"0"	"30"	"15"	"31294287"	"31294287"	"subst"	"0.000109646"	"01943"	"TRPM1_000011"	"g.31294287C>T"	""	""	""	"TRPM1(NM_001252020.1):c.4667G>A (p.R1556Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31002084C>T"	""	"likely benign"	""
"0000317141"	"0"	"30"	"15"	"31294159"	"31294159"	"subst"	"0.00835601"	"01943"	"TRPM1_000009"	"g.31294159C>T"	""	""	""	"TRPM1(NM_001252020.1):c.4795G>A (p.V1599M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31001956C>T"	""	"likely benign"	""
"0000317142"	"0"	"30"	"15"	"31359269"	"31359269"	"subst"	"0.000710683"	"01943"	"TRPM1_000048"	"g.31359269C>T"	""	""	""	"TRPM1(NM_001252020.1):c.666G>A (p.K222=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31067066C>T"	""	"likely benign"	""
"0000340708"	"0"	"10"	"15"	"31330280"	"31330280"	"subst"	"0.818392"	"02327"	"TRPM1_000025"	"g.31330280A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31038077A>G"	""	"benign"	""
"0000341654"	"0"	"90"	"15"	"31323249"	"31323249"	"subst"	"5.27966E-5"	"02327"	"TRPM1_000024"	"g.31323249G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3115C>T (p.R1039*, p.(Arg1039Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31031046G>A"	""	"pathogenic"	""
"0000347694"	"0"	"10"	"15"	"31369123"	"31369123"	"subst"	"0.847405"	"02327"	"TRPM1_000027"	"g.31369123A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31076920A>G"	""	"benign"	""
"0000348944"	"0"	"10"	"15"	"31362352"	"31362352"	"subst"	"0.805357"	"02327"	"TRPM1_000026"	"g.31362352C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.31070149C>T"	""	"benign"	""
"0000358340"	"3"	"90"	"15"	"31327754"	"31327754"	"subst"	"4.06161E-6"	"01243"	"TRPM1_000035"	"g.31327754G>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31035551G>A"	""	"pathogenic"	""
"0000358341"	"3"	"90"	"15"	"31327816"	"31327816"	"subst"	"0"	"01243"	"TRPM1_000033"	"g.31327816G>A"	""	"Sharon, submitted"	""	""	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000358342"	"3"	"90"	"15"	"31355320"	"31369188"	"del"	"0"	"01243"	"TRPM1_000028"	"g.(31354906_31355320)_(31369188_31393859)del"	""	"Sharon, submitted"	""	"ex 2-7del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000358343"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"01243"	"TRPM1_000046"	"g.31355340T>A"	""	"Sharon, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	""
"0000472275"	"3"	"50"	"15"	"31319315"	"31319320"	"del"	"0"	"01807"	"TRPM1_000053"	"g.31319315_31319320delinsTAATTGATTTTA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.31027112_31027117delinsTAATTGATTTTA"	""	"VUS"	""
"0000553888"	"0"	"50"	"15"	"31294258"	"31294258"	"subst"	"0.000134016"	"01943"	"TRPM1_000010"	"g.31294258C>G"	""	""	""	"TRPM1(NM_001252020.1):c.4696G>C (p.D1566H), TRPM1(NM_001252020.2):c.4696G>C (p.D1566H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002055C>G"	""	"VUS"	""
"0000553889"	"0"	"30"	"15"	"31294401"	"31294401"	"subst"	"0.000544171"	"02330"	"TRPM1_000054"	"g.31294401C>T"	""	""	""	"TRPM1(NM_001252020.1):c.4553G>A (p.R1518H), TRPM1(NM_001252020.2):c.4553G>A (p.R1518H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002198C>T"	""	"likely benign"	""
"0000553890"	"0"	"30"	"15"	"31294401"	"31294401"	"subst"	"0.000544171"	"01943"	"TRPM1_000054"	"g.31294401C>T"	""	""	""	"TRPM1(NM_001252020.1):c.4553G>A (p.R1518H), TRPM1(NM_001252020.2):c.4553G>A (p.R1518H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002198C>T"	""	"likely benign"	""
"0000553891"	"0"	"30"	"15"	"31294554"	"31294554"	"subst"	"0.000645738"	"02330"	"TRPM1_000055"	"g.31294554G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4400C>T (p.T1467M), TRPM1(NM_001252020.2):c.4400C>T (p.T1467M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002351G>A"	""	"likely benign"	""
"0000553892"	"0"	"50"	"15"	"31294554"	"31294554"	"subst"	"0.000645738"	"01943"	"TRPM1_000055"	"g.31294554G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4400C>T (p.T1467M), TRPM1(NM_001252020.2):c.4400C>T (p.T1467M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002351G>A"	""	"VUS"	""
"0000553893"	"0"	"30"	"15"	"31294573"	"31294573"	"subst"	"0.00394756"	"02330"	"TRPM1_000056"	"g.31294573G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4381C>T (p.R1461C), TRPM1(NM_001252020.2):c.4381C>T (p.R1461C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002370G>A"	""	"likely benign"	""
"0000553894"	"0"	"30"	"15"	"31294573"	"31294573"	"subst"	"0.00394756"	"01943"	"TRPM1_000056"	"g.31294573G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4381C>T (p.R1461C), TRPM1(NM_001252020.2):c.4381C>T (p.R1461C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002370G>A"	""	"likely benign"	""
"0000553895"	"0"	"30"	"15"	"31294891"	"31294891"	"subst"	"8.12315E-6"	"01943"	"TRPM1_000057"	"g.31294891G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4063C>T (p.L1355=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002688G>A"	""	"likely benign"	""
"0000553896"	"0"	"10"	"15"	"31294896"	"31294896"	"subst"	"0.00116174"	"01943"	"TRPM1_000014"	"g.31294896G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4058C>T (p.T1353M), TRPM1(NM_001252020.2):c.4058C>T (p.T1353M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002693G>A"	""	"benign"	""
"0000553897"	"0"	"10"	"15"	"31294965"	"31294965"	"subst"	"0.00110474"	"02330"	"TRPM1_000058"	"g.31294965G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3989C>T (p.T1330M), TRPM1(NM_001252020.2):c.3989C>T (p.T1330M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002762G>A"	""	"benign"	""
"0000553898"	"0"	"10"	"15"	"31294965"	"31294965"	"subst"	"0.00110474"	"01943"	"TRPM1_000058"	"g.31294965G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3989C>T (p.T1330M), TRPM1(NM_001252020.2):c.3989C>T (p.T1330M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002762G>A"	""	"benign"	""
"0000553899"	"0"	"10"	"15"	"31295039"	"31295039"	"subst"	"0"	"02330"	"TRPM1_000059"	"g.31295039G>A"	""	""	""	"TRPM1(NM_001252020.2):c.3915C>T (p.S1305=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002836G>A"	""	"benign"	""
"0000553901"	"0"	"30"	"15"	"31318347"	"31318347"	"subst"	"0.000294884"	"01943"	"TRPM1_000061"	"g.31318347A>G"	""	""	""	"TRPM1(NM_001252020.1):c.3675T>C (p.S1225=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31026144A>G"	""	"likely benign"	""
"0000553902"	"0"	"50"	"15"	"31318369"	"31318369"	"subst"	"0"	"01943"	"TRPM1_000062"	"g.31318369T>C"	""	""	""	"TRPM1(NM_001252020.1):c.3653A>G (p.D1218G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31026166T>C"	""	"VUS"	""
"0000553903"	"0"	"10"	"15"	"31319170"	"31319170"	"subst"	"0.000982853"	"02330"	"TRPM1_000063"	"g.31319170G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3495C>T (p.G1165=), TRPM1(NM_001252020.2):c.3495C>T (p.G1165=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31026967G>A"	""	"benign"	""
"0000553904"	"0"	"10"	"15"	"31319170"	"31319170"	"subst"	"0.000982853"	"01943"	"TRPM1_000063"	"g.31319170G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3495C>T (p.G1165=), TRPM1(NM_001252020.2):c.3495C>T (p.G1165=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31026967G>A"	""	"benign"	""
"0000553905"	"0"	"30"	"15"	"31320621"	"31320621"	"subst"	"7.31036E-5"	"02330"	"TRPM1_000064"	"g.31320621G>A"	""	""	""	"TRPM1(NM_001252020.2):c.3258C>T (p.P1086=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31028418G>A"	""	"likely benign"	""
"0000553906"	"0"	"50"	"15"	"31323186"	"31323186"	"subst"	"5.68579E-5"	"01943"	"TRPM1_000065"	"g.31323186G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3178C>T (p.L1060F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31030983G>A"	""	"VUS"	""
"0000553907"	"0"	"90"	"15"	"31323249"	"31323249"	"subst"	"5.27966E-5"	"01804"	"TRPM1_000024"	"g.31323249G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3115C>T (p.R1039*, p.(Arg1039Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31031046G>A"	""	"pathogenic"	""
"0000553908"	"0"	"50"	"15"	"31323254"	"31323254"	"subst"	"0"	"01943"	"TRPM1_000066"	"g.31323254A>T"	""	""	""	"TRPM1(NM_001252020.1):c.3110T>A (p.L1037Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31031051A>T"	""	"VUS"	""
"0000553909"	"0"	"50"	"15"	"31323288"	"31323288"	"subst"	"0"	"02330"	"TRPM1_000067"	"g.31323288T>A"	""	""	""	"TRPM1(NM_001252020.2):c.3076A>T (p.I1026F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31031085T>A"	""	"VUS"	""
"0000553910"	"0"	"30"	"15"	"31323322"	"31323322"	"subst"	"0.000694557"	"01943"	"TRPM1_000068"	"g.31323322G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3042C>T (p.V1014=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31031119G>A"	""	"likely benign"	""
"0000553911"	"0"	"50"	"15"	"31325153"	"31325153"	"subst"	"0.000191367"	"02330"	"TRPM1_000069"	"g.31325153A>T"	""	""	""	"TRPM1(NM_001252020.1):c.2752-10T>A, TRPM1(NM_001252020.2):c.2752-10T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31032950A>T"	""	"VUS"	""
"0000553912"	"0"	"30"	"15"	"31325153"	"31325153"	"subst"	"0.000191367"	"01943"	"TRPM1_000069"	"g.31325153A>T"	""	""	""	"TRPM1(NM_001252020.1):c.2752-10T>A, TRPM1(NM_001252020.2):c.2752-10T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31032950A>T"	""	"likely benign"	""
"0000553913"	"0"	"50"	"15"	"31329943"	"31329943"	"subst"	"5.68537E-5"	"01943"	"TRPM1_000070"	"g.31329943C>T"	""	""	""	"TRPM1(NM_001252020.1):c.2593G>A (p.A865T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31037740C>T"	""	"VUS"	""
"0000553914"	"0"	"50"	"15"	"31329984"	"31329984"	"subst"	"1.62444E-5"	"02330"	"TRPM1_000071"	"g.31329984C>A"	""	""	""	"TRPM1(NM_001252020.2):c.2552G>T (p.R851I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31037781C>A"	""	"VUS"	""
"0000553915"	"0"	"10"	"15"	"31332309"	"31332309"	"subst"	"0.00265661"	"02330"	"TRPM1_000072"	"g.31332309C>T"	""	""	""	"TRPM1(NM_001252020.2):c.2367+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31040106C>T"	""	"benign"	""
"0000553916"	"0"	"50"	"15"	"31332316"	"31332316"	"subst"	"0.000183003"	"02330"	"TRPM1_000073"	"g.31332316C>T"	""	""	""	"TRPM1(NM_001252020.2):c.2367+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31040113C>T"	""	"VUS"	""
"0000553917"	"0"	"50"	"15"	"31334233"	"31334233"	"subst"	"0"	"02330"	"TRPM1_000074"	"g.31334233G>A"	""	""	""	"TRPM1(NM_001252020.2):c.2059C>T (p.L687F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31042030G>A"	""	"VUS"	""
"0000553919"	"0"	"30"	"15"	"31334454"	"31334454"	"subst"	"0.00031052"	"01943"	"TRPM1_000076"	"g.31334454G>C"	""	""	""	"TRPM1(NM_001252020.1):c.1846-8C>G, TRPM1(NM_001252020.2):c.1846-8C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31042251G>C"	""	"likely benign"	""
"0000553920"	"0"	"10"	"15"	"31339294"	"31339294"	"subst"	"0.000158379"	"02330"	"TRPM1_000077"	"g.31339294A>G"	""	""	""	"TRPM1(NM_001252020.2):c.1815+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31047091A>G"	""	"benign"	""
"0000553921"	"0"	"30"	"15"	"31339305"	"31339305"	"subst"	"0.00878782"	"01943"	"TRPM1_000078"	"g.31339305G>C"	""	""	""	"TRPM1(NM_001252020.1):c.1815+9C>G, TRPM1(NM_001252020.2):c.1815+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31047102G>C"	""	"likely benign"	""
"0000553922"	"0"	"30"	"15"	"31340152"	"31340152"	"subst"	"0.00171831"	"01943"	"TRPM1_000040"	"g.31340152A>G"	""	""	""	"TRPM1(NM_001252020.1):c.1624-10T>C, TRPM1(NM_001252020.2):c.1624-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31047949A>G"	""	"likely benign"	""
"0000553923"	"0"	"50"	"15"	"31342725"	"31342725"	"subst"	"0.00012312"	"02330"	"TRPM1_000079"	"g.31342725G>T"	""	""	""	"TRPM1(NM_001252020.2):c.1375C>A (p.P459T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31050522G>T"	""	"VUS"	""
"0000553926"	"0"	"50"	"15"	"31352763"	"31352763"	"subst"	"0"	"02330"	"TRPM1_000082"	"g.31352763A>G"	""	""	""	"TRPM1(NM_001252020.2):c.1298T>C (p.F433S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31060560A>G"	""	"VUS"	""
"0000553927"	"0"	"30"	"15"	"31353639"	"31353639"	"subst"	"0.000134024"	"02330"	"TRPM1_000083"	"g.31353639G>T"	""	""	""	"TRPM1(NM_001252020.2):c.1213+6C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31061436G>T"	""	"likely benign"	""
"0000553928"	"0"	"10"	"15"	"31354764"	"31354764"	"subst"	"7.72483E-5"	"02330"	"TRPM1_000084"	"g.31354764T>C"	""	""	""	"TRPM1(NM_001252020.2):c.1140+18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31062561T>C"	""	"benign"	""
"0000553929"	"0"	"30"	"15"	"31355362"	"31355362"	"subst"	"0.000109696"	"02330"	"TRPM1_000085"	"g.31355362C>T"	""	""	""	"TRPM1(NM_001252020.2):c.975G>A (p.S325=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31063159C>T"	""	"likely benign"	""
"0000553930"	"0"	"50"	"15"	"31355369"	"31355369"	"subst"	"3.25018E-5"	"01943"	"TRPM1_000086"	"g.31355369C>T"	""	""	""	"TRPM1(NM_001252020.1):c.968G>A (p.R323H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31063166C>T"	""	"VUS"	""
"0000553931"	"0"	"10"	"15"	"31358283"	"31358283"	"subst"	"0"	"02330"	"TRPM1_000087"	"g.31358283G>A"	""	""	""	"TRPM1(NM_001252020.2):c.837C>T (p.N279=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31066080G>A"	""	"benign"	""
"0000553932"	"0"	"50"	"15"	"31359247"	"31359247"	"subst"	"1.21835E-5"	"02330"	"TRPM1_000088"	"g.31359247T>C"	""	""	""	"TRPM1(NM_001252020.2):c.669+19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31067044T>C"	""	"VUS"	""
"0000553933"	"0"	"30"	"15"	"31359284"	"31359284"	"subst"	"0.00168533"	"01943"	"TRPM1_000049"	"g.31359284T>C"	""	""	""	"TRPM1(NM_001252020.1):c.651A>G (p.E217=), TRPM1(NM_001252020.2):c.651A>G (p.E217=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31067081T>C"	""	"likely benign"	""
"0000553934"	"0"	"50"	"15"	"31359333"	"31359333"	"subst"	"0.00076755"	"01943"	"TRPM1_000089"	"g.31359333C>T"	""	""	""	"TRPM1(NM_001252020.1):c.602G>A (p.R201Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31067130C>T"	""	"VUS"	""
"0000553935"	"0"	"30"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"02330"	"TRPM1_000090"	"g.31359348G>A"	""	""	""	"TRPM1(NM_001252020.1):c.587C>T (p.S196F), TRPM1(NM_001252020.2):c.587C>T (p.S196F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31067145G>A"	""	"likely benign"	""
"0000553936"	"0"	"70"	"15"	"31360289"	"31360289"	"subst"	"3.25026E-5"	"01943"	"TRPM1_000091"	"g.31360289G>A"	""	""	""	"TRPM1(NM_001252020.1):c.337C>T (p.R113C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31068086G>A"	""	"likely pathogenic"	""
"0000553937"	"0"	"50"	"15"	"31362087"	"31362087"	"subst"	"4.32504E-6"	"02330"	"TRPM1_000092"	"g.31362087A>C"	""	""	""	"TRPM1(NM_001252030.2):c.360T>G (p.Y120*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31069884A>C"	""	"VUS"	""
"0000553939"	"0"	"10"	"15"	"31362444"	"31362445"	"ins"	"0"	"02330"	"TRPM1_000093"	"g.31362444_31362445insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT"	""	""	""	"TRPM1(NM_001252020.2):c.135-16_135-15ins56"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT"	""	"benign"	""
"0000553940"	"0"	"50"	"15"	"31453128"	"31453128"	"subst"	"8.11636E-6"	"01943"	"TRPM1_000094"	"g.31453128G>A"	""	""	""	"TRPM1(NM_001252020.1):c.35C>T (p.S12F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31160925G>A"	""	"VUS"	""
"0000553941"	"0"	"10"	"15"	"31453136"	"31453136"	"subst"	"0.00143659"	"02330"	"TRPM1_000095"	"g.31453136G>A"	""	""	""	"TRPM1(NM_001252020.1):c.27C>T (p.L9=), TRPM1(NM_001252020.2):c.27C>T (p.L9=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31160933G>A"	""	"benign"	""
"0000553942"	"0"	"30"	"15"	"31453138"	"31453138"	"subst"	"0.0253106"	"01804"	"TRPM1_000096"	"g.31453138G>A"	""	""	""	"TRPM1(NM_001252020.1):c.25C>T (p.(Leu9Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31160935G>A"	""	"likely benign"	""
"0000615220"	"0"	"50"	"15"	"31294404"	"31294404"	"subst"	"0.000479196"	"01943"	"TRPM1_000098"	"g.31294404G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4550C>T (p.T1517M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002201G>A"	""	"VUS"	""
"0000615221"	"0"	"30"	"15"	"31295126"	"31295126"	"subst"	"8.7043E-5"	"01943"	"TRPM1_000099"	"g.31295126G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3828C>T (p.I1276=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002923G>A"	""	"likely benign"	""
"0000615222"	"0"	"30"	"15"	"31320576"	"31320576"	"subst"	"0.000170572"	"01943"	"TRPM1_000100"	"g.31320576G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3303C>T (p.V1101=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31028373G>A"	""	"likely benign"	""
"0000615223"	"0"	"50"	"15"	"31332445"	"31332445"	"subst"	"0.000300508"	"01943"	"TRPM1_000101"	"g.31332445G>A"	""	""	""	"TRPM1(NM_001252020.1):c.2243C>T (p.S748L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31040242G>A"	""	"VUS"	""
"0000615224"	"0"	"50"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"01943"	"TRPM1_000090"	"g.31359348G>A"	""	""	""	"TRPM1(NM_001252020.1):c.587C>T (p.S196F), TRPM1(NM_001252020.2):c.587C>T (p.S196F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31067145G>A"	""	"VUS"	""
"0000623204"	"0"	"30"	"15"	"31330025"	"31330025"	"subst"	"0.000109662"	"01943"	"TRPM1_000037"	"g.31330025G>C"	""	""	""	"TRPM1(NM_001252020.1):c.2511C>G (p.G837=), TRPM1(NM_001252020.2):c.2511C>G (p.G837=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31037822G>C"	""	"likely benign"	""
"0000623205"	"0"	"90"	"15"	"31334275"	"31334275"	"subst"	"8.12605E-6"	"01943"	"TRPM1_000102"	"g.31334275G>A"	""	""	""	"TRPM1(NM_001252020.1):c.2017C>T (p.R673*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31042072G>A"	""	"pathogenic"	""
"0000623206"	"0"	"30"	"15"	"31334454"	"31334454"	"subst"	"0.00031052"	"02330"	"TRPM1_000076"	"g.31334454G>C"	""	""	""	"TRPM1(NM_001252020.1):c.1846-8C>G, TRPM1(NM_001252020.2):c.1846-8C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31042251G>C"	""	"likely benign"	""
"0000649025"	"1"	"50"	"15"	"31294159"	"31294159"	"subst"	"0.00835601"	"03575"	"TRPM1_000009"	"g.31294159C>T"	"14/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"14 heterozygous, no homozygous; {DB:CLININrs61734295}"	"Germline"	""	"rs61734295"	"0"	""	""	"g.31001956C>T"	""	"VUS"	""
"0000649026"	"1"	"50"	"15"	"31318422"	"31318422"	"subst"	"0.00364293"	"03575"	"TRPM1_000020"	"g.31318422C>G"	"28/2788 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 28 heterozygous, no homozygous; {DB:CLININrs182549235}"	"Germline"	""	"rs182549235"	"0"	""	""	"g.31026219C>G"	""	"VUS"	""
"0000649027"	"1"	"30"	"15"	"31332488"	"31332488"	"subst"	"0.00872327"	"03575"	"TRPM1_000039"	"g.31332488C>G"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs138944426}"	"Germline"	""	"rs138944426"	"0"	""	""	"g.31040285C>G"	""	"likely benign"	""
"0000649028"	"1"	"70"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"03575"	"TRPM1_000003"	"g.31334305G>A"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs387906862}"	"Germline"	""	"rs387906862"	"0"	""	""	"g.31042102G>A"	""	"likely pathogenic"	""
"0000649029"	"1"	"30"	"15"	"31334362"	"31334362"	"subst"	"0.0239355"	"03575"	"TRPM1_000075"	"g.31334362C>T"	"79/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"79 heterozygous, no homozygous; {DB:CLININrs17815774}"	"Germline"	""	"rs17815774"	"0"	""	""	"g.31042159C>T"	""	"likely benign"	""
"0000649030"	"1"	"50"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"03575"	"TRPM1_000090"	"g.31359348G>A"	"2/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs138886378}"	"Germline"	""	"rs138886378"	"0"	""	""	"g.31067145G>A"	""	"VUS"	""
"0000657549"	"0"	"30"	"15"	"31294996"	"31294996"	"subst"	"0.00568205"	"01804"	"TRPM1_000103"	"g.31294996C>T"	""	""	""	"TRPM1(NM_001252020.1):c.3958G>A (p.(Glu1320Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.31002793C>T"	""	"likely benign"	""
"0000663595"	"1"	"50"	"15"	"31294996"	"31294996"	"subst"	"0.00568205"	"00006"	"TRPM1_000103"	"g.31294996C>T"	""	"{PMID:Arno 2017:28132693}"	""	""	"heterozygous variant only, does not fit phenotype"	"Germline"	""	""	"0"	""	""	"g.31002793C>T"	""	"VUS"	""
"0000680139"	"0"	"30"	"15"	"31294793"	"31294793"	"subst"	"7.7205E-5"	"01943"	"TRPM1_000104"	"g.31294793G>A"	""	""	""	"TRPM1(NM_001252020.1):c.4161C>T (p.N1387=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680140"	"0"	"50"	"15"	"31319119"	"31319119"	"subst"	"0.000186948"	"01943"	"TRPM1_000105"	"g.31319119C>T"	""	""	""	"TRPM1(NM_001252020.1):c.3546G>A (p.L1182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680141"	"0"	"90"	"15"	"31354781"	"31354781"	"subst"	"2.03209E-5"	"02327"	"TRPM1_000106"	"g.31354781C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000680142"	"0"	"30"	"15"	"31362369"	"31362369"	"subst"	"0"	"01943"	"TRPM1_000107"	"g.31362369G>T"	""	""	""	"TRPM1(NM_001252020.1):c.195C>A (p.S65R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000684694"	"1"	"90"	"15"	"31295043"	"31295043"	"del"	"0"	"00004"	"TRPM1_000109"	"g.31295043del"	"1/86 cases"	"{PMID:Kim 2019:31144483}, {PMID:Lee 2020:32233153}, {PMID:Kim 2021:34064005}"	""	"NM_001252020.1:c.3911delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000684721"	"2"	"90"	"15"	"31319268"	"31319268"	"subst"	"4.06204E-6"	"00004"	"TRPM1_000110"	"g.31319268G>A"	"1/86 cases"	"{PMID:Kim 2019:31144483}, {PMID:Lee 2020:32233153}, {PMID:Kim 2021:34064005}"	""	"NM_001252020.1:c.3397C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000685489"	"0"	"90"	"15"	"31327754"	"31327754"	"subst"	"4.06161E-6"	"00004"	"TRPM1_000035"	"g.31327754G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685490"	"0"	"90"	"15"	"31327816"	"31327816"	"subst"	"8.12189E-6"	"00004"	"TRPM1_000111"	"g.31327816C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685491"	"0"	"70"	"15"	"31352747"	"31352747"	"subst"	"1.62587E-5"	"00004"	"TRPM1_000112"	"g.31352747C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685492"	"0"	"90"	"15"	"31355203"	"31355203"	""	"0"	"00004"	"TRPM1_000108"	"g.31355203-31391647del"	"12/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.-82_899del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685493"	"0"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00004"	"TRPM1_000046"	"g.31355340T>A"	"16/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000691769"	"0"	"50"	"15"	"31334343"	"31334343"	"subst"	"8.12315E-6"	"02327"	"TRPM1_000113"	"g.31334343G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691770"	"0"	"30"	"15"	"31354782"	"31354782"	"subst"	"0.000345464"	"01943"	"TRPM1_000114"	"g.31354782G>A"	""	""	""	"TRPM1(NM_001252020.1):c.1140C>T (p.L380=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691771"	"0"	"50"	"15"	"31359333"	"31359333"	"subst"	"0.00076755"	"02327"	"TRPM1_000089"	"g.31359333C>T"	""	""	""	"TRPM1(NM_001252020.1):c.602G>A (p.R201Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000699711"	"1"	"70"	"15"	"31294996"	"31294996"	"subst"	"0.00568205"	"00006"	"TRPM1_000103"	"g.31294996C>T"	""	"{PMID:Zaharieva 2016:26700687}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000699712"	"2"	"70"	"15"	"31334386"	"31334386"	"subst"	"0"	"00006"	"TRPM1_000115"	"g.31334386C>A"	""	"{PMID:Zaharieva 2016:26700687}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000712649"	"0"	"70"	"15"	"31294996"	"31294996"	"subst"	"0.00568205"	"03980"	"TRPM1_000103"	"g.31294996C>T"	""	"Doucette 2021, Submitted"	""	""	"We hypothesize in our manuscript that this novel variant in TRPM1 may work in a digenic fashion with GRM6 as they seem to work within the same pathway."	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""
"0000713302"	"0"	"90"	"15"	"31355454"	"31355454"	"subst"	"0"	"00000"	"TRPM1_000125"	"g.31355454C>T"	""	"{PMID:Carss 2017:28041643}"	""	"15:31355454C>T ENST00000542188.1:c.883G>A (Gly295Arg)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713374"	"3"	"90"	"15"	"31320673"	"31320673"	"subst"	"0"	"00000"	"TRPM1_000119"	"g.31320673C>T"	""	"{PMID:Carss 2017:28041643}"	""	"15:31320673C>T ENST00000542188.1:c.3206G>A (Cys1069Tyr)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713382"	"3"	"90"	"15"	"31359260"	"31359263"	"del"	"1.2183E-5"	"00000"	"TRPM1_000127"	"g.31359260_31359263del"	""	"{PMID:Carss 2017:28041643}"	""	"15:31359259CACTT>C ENST00000542188.1:c.669+3_669+6delAAGT"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713507"	"0"	"90"	"15"	"31320654"	"31320654"	"subst"	"0"	"00000"	"TRPM1_000118"	"g.31320654A>T"	""	"{PMID:Carss 2017:28041643}"	""	"15:31320654A>T ENST00000542188.1:c.3225T>A (Asp1075Glu)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713610"	"3"	"90"	"15"	"31320614"	"31320615"	"ins"	"0"	"00000"	"TRPM1_000117"	"g.31320614_31320615insA"	""	"{PMID:Carss 2017:28041643}"	""	"15:31320613C>CA ENST00000542188.1:c.3265dupT (Trp1089LeufsTer32)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713705"	"0"	"90"	"15"	"31360195"	"31360195"	"subst"	"0"	"00000"	"TRPM1_000128"	"g.31360195C>T"	""	"{PMID:Carss 2017:28041643}"	""	"15:31360195C>T ENST00000542188.1:c.431G>A (Gly144Glu)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713813"	"0"	"90"	"15"	"31323243"	"31323243"	"subst"	"2.03056E-5"	"00000"	"TRPM1_000120"	"g.31323243T>A"	""	"{PMID:Carss 2017:28041643}"	""	"15:31323243T>A ENST00000542188.1:c.3121A>T (Ile1041Phe)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000713979"	"3"	"70"	"15"	"31323352"	"31323360"	"del"	"0"	"00000"	"TRPM1_000122"	"g.31323352_31323360del"	""	"{PMID:Zhou 2018:29453956}"	""	"2887_2895del"	""	"Germline"	""	""	"0"	""	""	"g.31031149_31031157del"	""	"likely pathogenic (dominant)"	""
"0000714052"	"2"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31068010A>G"	""	"likely pathogenic (recessive)"	""
"0000714053"	"3"	"70"	"15"	"31325084"	"31325084"	"subst"	"0"	"00000"	"TRPM1_000124"	"g.31325084G>C"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31032881G>C"	""	"likely pathogenic (recessive)"	""
"0000714054"	"3"	"70"	"15"	"31358296"	"31358296"	"subst"	"4.06359E-6"	"00000"	"TRPM1_000126"	"g.31358296A>G"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31066093A>G"	""	"likely pathogenic (recessive)"	""
"0000714075"	"2"	"70"	"15"	"31293264"	"31393929"	"del"	"0"	"00000"	"TRPM1_000116"	"g.(?_31293264)_(31393929_?)del"	""	"{PMID:Taylor 2017:28341476}"	""	"15q13.3 microdeletion encompassing TRPM1"	""	"Germline"	""	""	"0"	""	""	"g.(?_31001061)_(31101726_?)del"	""	"likely pathogenic (recessive)"	""
"0000714098"	"1"	"70"	"15"	"31324996"	"31324996"	"subst"	"3.65476E-5"	"00000"	"TRPM1_000123"	"g.31324996G>A"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31032793G>A"	""	"likely pathogenic (recessive)"	""
"0000714105"	"1"	"70"	"15"	"31323296"	"31323296"	"subst"	"1.62455E-5"	"00000"	"TRPM1_000121"	"g.31323296C>T"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31031093C>T"	""	"likely pathogenic (recessive)"	""
"0000725030"	"0"	"50"	"15"	"31294735"	"31294738"	"del"	"0"	"01943"	"TRPM1_000130"	"g.31294735_31294738del"	""	""	""	"TRPM1(NM_001252020.1):c.4224_4227delAGAC (p.D1409Lfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725031"	"0"	"30"	"15"	"31318422"	"31318422"	"subst"	"0.00364293"	"01943"	"TRPM1_000020"	"g.31318422C>G"	""	""	""	"TRPM1(NM_001252020.1):c.3600G>C (p.Q1200H), TRPM1(NM_001252020.2):c.3600G>C (p.Q1200H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725032"	"0"	"50"	"15"	"31320620"	"31320620"	"subst"	"1.62446E-5"	"02327"	"TRPM1_000131"	"g.31320620C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725033"	"0"	"90"	"15"	"31323249"	"31323249"	"subst"	"5.27966E-5"	"01943"	"TRPM1_000024"	"g.31323249G>A"	""	""	""	"TRPM1(NM_001252020.1):c.3115C>T (p.R1039*, p.(Arg1039Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000725034"	"0"	"90"	"15"	"31339365"	"31339365"	"subst"	"0"	"01943"	"TRPM1_000132"	"g.31339365G>T"	""	""	""	"TRPM1(NM_001252020.1):c.1764C>A (p.Y588*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000725035"	"0"	"30"	"15"	"31339407"	"31339407"	"subst"	"0.000109646"	"01943"	"TRPM1_000133"	"g.31339407G>A"	""	""	""	"TRPM1(NM_001252020.1):c.1722C>T (p.L574=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725036"	"0"	"50"	"15"	"31342764"	"31342764"	"subst"	"0.00104231"	"01943"	"TRPM1_000044"	"g.31342764G>T"	""	""	""	"TRPM1(NM_001252020.1):c.1336C>A (p.P446T), TRPM1(NM_001252020.2):c.1336C>A (p.P446T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725037"	"0"	"50"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"01943"	"TRPM1_000134"	"g.31360294T>C"	""	""	""	"TRPM1(NM_001252020.1):c.332A>G (p.Y111C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725038"	"0"	"50"	"15"	"31369129"	"31369129"	"subst"	"4.06184E-6"	"01943"	"TRPM1_000135"	"g.31369129G>A"	""	""	""	"TRPM1(NM_001252020.1):c.113C>T (p.P38L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725039"	"0"	"50"	"15"	"31369151"	"31369151"	"subst"	"1.62477E-5"	"01943"	"TRPM1_000136"	"g.31369151G>A"	""	""	""	"TRPM1(NM_001252020.1):c.91C>T (p.R31W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000731551"	"1"	"50"	"15"	"31318422"	"31318422"	"subst"	"0.00364293"	"00000"	"TRPM1_000020"	"g.31318422C>G"	""	"{PMID:Comander 2017:28981474}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31026219C>G"	""	"VUS"	""
"0000731571"	"2"	"50"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"00000"	"TRPM1_000090"	"g.31359348G>A"	""	"{PMID:Comander 2017:28981474}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067145G>A"	""	"VUS"	""
"0000732503"	"0"	"90"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Costa 2017:28912962}"	""	"1846-8C>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000732504"	"0"	"90"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Costa 2017:28912962}"	""	"1453G>C (Glu485Gln)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000732571"	"0"	"50"	"15"	"31352747"	"31352747"	"subst"	"1.62587E-5"	"00000"	"TRPM1_000112"	"g.31352747C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31060544C>T"	""	"VUS"	""
"0000732572"	"0"	"90"	"15"	"31323299"	"31323300"	"delins"	"0"	"00000"	"TRPM1_000137"	"g.31323299_31323300delinsAT"	""	"{PMID:Wang 2017:28838317}"	""	"2947_2948delGCinsAT"	""	"Germline"	""	""	"0"	""	""	"g.31031096_31031097delinsAT"	""	"pathogenic"	""
"0000732578"	"0"	"90"	"15"	"31352752"	"31352752"	"subst"	"0"	"00000"	"TRPM1_000139"	"g.31352752A>G"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31060549A>G"	""	"pathogenic"	""
"0000732594"	"0"	"50"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31068091T>C"	""	"VUS"	""
"0000732595"	"0"	"70"	"15"	"31320637"	"31320637"	"subst"	"5.68542E-5"	"00000"	"TRPM1_000022"	"g.31320637A>C"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31028434A>C"	""	"likely pathogenic"	""
"0000732601"	"0"	"30"	"15"	"31294923"	"31294923"	"subst"	"0.00168156"	"00000"	"TRPM1_000015"	"g.31294923C>T"	""	"{PMID:Wang 2017:28838317}"	""	""	""	"Germline"	""	"rs13380059"	"0"	""	""	"g.31002720C>T"	""	"likely benign"	""
"0000733227"	"1"	"70"	"15"	"31341678"	"31341678"	"subst"	"6.49751E-5"	"00000"	"TRPM1_000138"	"g.31341678A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31049475A>G"	""	"likely pathogenic"	""
"0000733228"	"1"	"70"	"15"	"31362377"	"31362394"	"del"	"0"	"00000"	"TRPM1_000140"	"g.31362377_31362394del"	""	"{PMID:Stone 2017:28559085}"	""	"53_54+16delAGGTGAGTGAGCTTTGCC"	""	"Germline"	""	""	"0"	""	""	"g.31070174_31070191del"	""	"likely pathogenic"	""
"0000733645"	"2"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31068010A>G"	""	"likely pathogenic"	""
"0000733646"	"2"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	""
"0000760082"	"0"	"50"	"15"	"31360115"	"31360115"	"subst"	"3.25008E-5"	"00000"	"TRPM1_000141"	"g.31360115C>T"	""	"{PMID:Tiwari 2016:27353947}"	""	"NM_001252020.1:c.511G>A"	""	"Germline"	""	""	"0"	""	""	"g.31067912C>T"	""	"VUS"	""
"0000765856"	"0"	"70"	"15"	"31369122"	"31369123"	"inv"	"0"	"00000"	"TRPM1_000142"	"g.31369122_31369123inv"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31076919_31076920inv"	""	"likely pathogenic"	""
"0000784614"	"0"	"50"	"15"	"31295101"	"31295101"	"subst"	"0.000146369"	"00000"	"TRPM1_000143"	"g.31295101G>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"3/1266 control chromosomes"	"Germline"	""	"rs148625654"	"0"	""	""	"g.31002898G>A"	""	"VUS"	""
"0000784615"	"0"	"50"	"15"	"31323231"	"31323231"	"subst"	"0"	"00000"	"TRPM1_000144"	"g.31323231G>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"0/1266 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.31031028G>A"	""	"VUS"	""
"0000785406"	"1"	"90"	"15"	"31369151"	"31369151"	"subst"	"1.62477E-5"	"00000"	"TRPM1_000136"	"g.31369151G>A"	""	"{PMID:Van Huet 2015:25999674}"	""	"1-27C>T"	""	"Germline"	""	""	"0"	""	""	"g.31076948G>A"	""	"pathogenic (recessive)"	""
"0000785414"	"2"	"90"	"15"	"31323249"	"31323249"	"subst"	"5.27966E-5"	"00000"	"TRPM1_000024"	"g.31323249G>A"	""	"{PMID:Van Huet 2015:25999674}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31031046G>A"	""	"pathogenic (recessive)"	""
"0000788220"	"1"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Zeitz 2015:25307992}"	""	"chr15: 31355203-31391647del"	"no genotype reported"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000788221"	"1"	"70"	"15"	"31362427"	"31362427"	"subst"	"0"	"00000"	"TRPM1_000152"	"g.31362427C>T"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31070224C>T"	""	"likely pathogenic"	""
"0000788222"	"1"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	""
"0000788223"	"1"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31068010A>G"	""	"likely pathogenic"	""
"0000788224"	"1"	"70"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"00000"	"TRPM1_000090"	"g.31359348G>A"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31067145G>A"	""	"likely pathogenic"	""
"0000788225"	"1"	"70"	"15"	"31358339"	"31358339"	"subst"	"4.46795E-5"	"00000"	"TRPM1_000150"	"g.31358339C>T"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31066136C>T"	""	"likely pathogenic"	""
"0000788226"	"1"	"70"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31063137T>A"	""	"likely pathogenic"	""
"0000788227"	"1"	"70"	"15"	"31355323"	"31355323"	"subst"	"0"	"00000"	"TRPM1_000149"	"g.31355323G>A"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31063120G>A"	""	"likely pathogenic"	""
"0000788228"	"1"	"70"	"15"	"31340092"	"31340092"	"subst"	"8.12328E-6"	"00000"	"TRPM1_000148"	"g.31340092C>A"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31047889C>A"	""	"likely pathogenic"	""
"0000788229"	"1"	"70"	"15"	"31334304"	"31334304"	"subst"	"6.09246E-5"	"00000"	"TRPM1_000147"	"g.31334304C>T"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31042101C>T"	""	"likely pathogenic"	""
"0000788230"	"1"	"70"	"15"	"31332488"	"31332488"	"subst"	"0.00872327"	"00000"	"TRPM1_000039"	"g.31332488C>G"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31040285C>G"	""	"likely pathogenic"	""
"0000788231"	"1"	"70"	"15"	"31332443"	"31332443"	"subst"	"4.06336E-6"	"00000"	"TRPM1_000146"	"g.31332443T>C"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31040240T>C"	""	"likely pathogenic"	""
"0000788232"	"1"	"70"	"15"	"31327754"	"31327754"	"subst"	"4.06161E-6"	"00000"	"TRPM1_000035"	"g.31327754G>A"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31035551G>A"	""	"likely pathogenic"	""
"0000788233"	"1"	"70"	"15"	"31324995"	"31324995"	"subst"	"2.84259E-5"	"00000"	"TRPM1_000007"	"g.31324995C>T"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31032792C>T"	""	"likely pathogenic"	""
"0000788234"	"1"	"70"	"15"	"31323296"	"31323296"	"subst"	"1.62455E-5"	"00000"	"TRPM1_000121"	"g.31323296C>T"	""	"{PMID:Zeitz 2015:25307992}"	""	""	"no genotype reported"	"Germline"	""	""	"0"	""	""	"g.31031093C>T"	""	"likely pathogenic"	""
"0000788238"	"1"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Zeitz 2015:25307992}"	""	"chr15: 31355203-31391647del"	"no genotype reported"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000788317"	"0"	"50"	"15"	"31294573"	"31294573"	"subst"	"0.0012062"	"00000"	"TRPM1_000013"	"g.31294573G>C"	""	"{PMID:Katagiri 2014:25268133}"	""	"C4264G"	""	"Germline"	""	""	"0"	""	""	"g.31002370G>C"	""	"VUS"	""
"0000788456"	"0"	"50"	"15"	"31360130"	"31360130"	"subst"	"0"	"00000"	"TRPM1_000151"	"g.31360130C>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"G379T"	""	"Germline"	""	"rs140493891"	"0"	""	""	"g.31067927C>A"	""	"VUS"	""
"0000788471"	"0"	"50"	"15"	"31327796"	"31327796"	"subst"	"0.000276144"	"00000"	"TRPM1_000145"	"g.31327796T>C"	""	"{PMID:Katagiri 2014:25268133}"	""	"A2587G"	""	"Germline"	""	"rs201650867"	"0"	""	""	"g.31035593T>C"	""	"VUS"	""
"0000790718"	"3"	"70"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00000"	"TRPM1_000003"	"g.31334305G>A"	""	"{PMID:Malaichamy 2014:24715752}"	""	""	""	"Germline"	""	"rs387906862"	"0"	""	""	"g.31042102G>A"	""	"likely pathogenic"	""
"0000790719"	"3"	"70"	"15"	"31319226"	"31319226"	"dup"	"0"	"00000"	"TRPM1_000153"	"g.31319226dup"	""	"{PMID:Malaichamy 2014:24715752}"	""	"3326_3327dupC"	""	"Germline"	""	""	"0"	""	""	"g.31027023dup"	""	"likely pathogenic"	""
"0000790721"	"3"	"70"	"15"	"31360093"	"31360093"	"subst"	"0"	"00000"	"TRPM1_000005"	"g.31360093C>A"	""	"{PMID:Malaichamy 2014:24715752}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067890C>A"	""	"likely pathogenic"	""
"0000790722"	"3"	"70"	"15"	"31360111"	"31360111"	"subst"	"0"	"00000"	"TRPM1_000006"	"g.31360111G>T"	""	"{PMID:Malaichamy 2014:24715752}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31067908G>T"	""	"likely pathogenic"	""
"0000790723"	"1"	"70"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00000"	"TRPM1_000003"	"g.31334305G>A"	""	"{PMID:Malaichamy 2014:24715752}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31042102G>A"	""	"likely pathogenic"	""
"0000790724"	"3"	"70"	"15"	"31355363"	"31355363"	"subst"	"1.21888E-5"	"00000"	"TRPM1_000008"	"g.31355363G>A"	""	"{PMID:Malaichamy 2014:24715752}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31063160G>A"	""	"likely pathogenic"	""
"0000790726"	"2"	"70"	"15"	"31324995"	"31324995"	"subst"	"2.84259E-5"	"00006"	"TRPM1_000007"	"g.31324995C>T"	""	"{PMID:Malaichamy 2014:24715752}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000792241"	"3"	"90"	"15"	"31341666"	"31341666"	"subst"	"0"	"00000"	"TRPM1_000155"	"g.31341666C>G"	""	"{PMID:_Audo-2012:22277662}"	""	"c.1418G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792243"	"0"	"90"	"15"	"31334214"	"31334214"	"subst"	"0"	"00000"	"TRPM1_000154"	"g.31334214T>G"	""	"{PMID:_Audo-2012:22277662}"	""	"c.1961A>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792262"	"0"	"30"	"15"	"31294933"	"31294933"	"subst"	"0.000227446"	"00000"	"TRPM1_000016"	"g.31294933A>G"	""	"{PMID:_Audo-2012:22277662}"	""	"c.3904T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000792275"	"0"	"90"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"00000"	"TRPM1_000090"	"g.31359348G>A"	""	"{PMID:_Audo-2012:22277662}"	""	"c.470C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793781"	"3"	"70"	"15"	"31323349"	"31323357"	"del"	"0"	"00000"	"TRPM1_000122"	"g.31323349_31323357del"	""	"{PMID:Zhou-2011:21677794}"	""	"c.2887_2895del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794398"	"0"	"70"	"15"	"31359390"	"31359390"	"subst"	"0"	"00000"	"TRPM1_000157"	"g.31359390C>T"	""	"{PMID:Wang 2018:30029497}"	""	"NM_002420.5:c.428G>A, NP_002411.3:p.(Gly143Asp), NC_000015.9:g.31359390C>T"	""	"Germline"	"?"	""	"0"	""	""	"g.31067187C>T"	""	"likely pathogenic"	"ACMG"
"0000794399"	"0"	"90"	"15"	"31354895"	"31354895"	"subst"	"0"	"00000"	"TRPM1_000156"	"g.31354895C>A"	""	"{PMID:Wang 2018:30029497}"	""	"NM_002420.5:c.910G>T, NP_002411.3:p.(Glu304Ter), NC_000015.9:g.31354895C>A"	""	"Germline"	"?"	""	"0"	""	""	"g.31062692C>A"	""	"pathogenic"	"ACMG"
"0000796299"	"0"	"90"	"15"	"31362364"	"31362364"	"del"	"0"	"00000"	"TRPM1_000166"	"g.31362364del"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.83delA"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796300"	"0"	"90"	"15"	"31339412"	"31339412"	"subst"	"8.12183E-6"	"00000"	"TRPM1_000162"	"g.31339412C>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.1600G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796301"	"0"	"90"	"15"	"31360289"	"31360289"	"subst"	"3.25026E-5"	"00000"	"TRPM1_000091"	"g.31360289G>A"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.220C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796302"	"0"	"90"	"15"	"31353650"	"31353650"	"subst"	"2.03061E-5"	"00000"	"TRPM1_000163"	"g.31353650A>C"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.1091T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796303"	"0"	"90"	"15"	"31360213"	"31360213"	"subst"	"0"	"00000"	"TRPM1_000165"	"g.31360213A>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.296T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796304"	"0"	"90"	"15"	"31334343"	"31334343"	"subst"	"8.12315E-6"	"00000"	"TRPM1_000113"	"g.31334343G>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.1832C>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796305"	"3"	"90"	"15"	"31359391"	"31359391"	"subst"	"4.06121E-6"	"00000"	"TRPM1_000164"	"g.31359391C>G"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.428-1G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796306"	"0"	"90"	"15"	"31339390"	"31339390"	"subst"	"4.06091E-6"	"00000"	"TRPM1_000161"	"g.31339390A>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.1622T>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796307"	"0"	"90"	"15"	"31332320"	"31332320"	"subst"	"1.21959E-5"	"00000"	"TRPM1_000160"	"g.31332320C>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.2250+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796308"	"0"	"90"	"15"	"31323185"	"31323185"	"subst"	"5.68583E-5"	"00000"	"TRPM1_000159"	"g.31323185C>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.3061+1G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796309"	"0"	"90"	"15"	"31320620"	"31320620"	"subst"	"1.62446E-5"	"00000"	"TRPM1_000131"	"g.31320620C>T"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.3142G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796310"	"0"	"90"	"15"	"31321572"	"31321572"	"dup"	"0"	"00000"	"TRPM1_000158"	"g.31321572dup"	""	"{PMID:Bijveld 2013:23714322}"	""	"c.3082+2dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796311"	"0"	"90"	"15"	"31355203"	"31391647"	"del"	"0"	"00000"	"IGF1R_000000"	"g.31355203_31391647del"	""	"{PMID:Bijveld 2013:23714322}"	""	"chr15:31355203-31391647del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797670"	"3"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"GRK1 c.1384C>T, p.(Gln462*), c.1384C>T, p.(Gln462*), TRPM1 c.215A>G, p.(Tyr72Cys), c.215A>G, p.(Tyr72Cys)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	"ACMG"
"0000798049"	"0"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPF31 c.1336T>C, p.(Ser446Pro), TRPM1 c.215A>G, p.(Tyr72Cys)"	""	"Germline"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	"ACMG"
"0000798088"	"0"	"50"	"15"	"31359348"	"31359348"	"subst"	"0.00319622"	"00000"	"TRPM1_000090"	"g.31359348G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"TRPM1 c.470C>T, p.(Ser157Phe), c.1348C>T, p.(Arg450Trp)"	""	"Germline"	"?"	""	"0"	""	""	"g.31067145G>A"	""	"VUS"	"ACMG"
"0000798089"	"0"	"50"	"15"	"31342635"	"31342635"	"subst"	"4.92275E-5"	"00000"	"TRPM1_000167"	"g.31342635G>A"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"TRPM1 c.470C>T, p.(Ser157Phe), c.1348C>T, p.(Arg450Trp)"	""	"Germline"	"?"	""	"0"	""	""	"g.31050432G>A"	""	"VUS"	"ACMG"
"0000806630"	"0"	"50"	"15"	"31295094"	"31295094"	"subst"	"4.06412E-5"	"01943"	"TRPM1_000168"	"g.31295094C>A"	""	""	""	"TRPM1(NM_001252020.1):c.3860G>T (p.R1287L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806631"	"0"	"50"	"15"	"31323248"	"31323248"	"subst"	"5.68579E-5"	"02327"	"TRPM1_000169"	"g.31323248C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806632"	"0"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"02330"	"TRPM1_000129"	"g.31360213A>G"	""	""	""	"TRPM1(NM_001252020.2):c.413T>C (p.L138P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000806633"	"0"	"50"	"15"	"31360289"	"31360289"	"subst"	"3.25026E-5"	"02327"	"TRPM1_000091"	"g.31360289G>A"	""	""	""	"TRPM1(NM_001252020.1):c.337C>T (p.R113C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811447"	"0"	"70"	"15"	"31324996"	"31324996"	"subst"	"3.65476E-5"	"00000"	"TRPM1_000123"	"g.31324996G>A"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.2782C>T  (p.Arg928Trp), Allele 2 c.2999G>A  (p.Arg1000Gln)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31032793G>A"	""	"likely pathogenic"	""
"0000811448"	"0"	"70"	"15"	"31323248"	"31323248"	"subst"	"5.68579E-5"	"00000"	"TRPM1_000169"	"g.31323248C>T"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.2782C>T  (p.Arg928Trp), Allele 2 c.2999G>A  (p.Arg1000Gln)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31031045C>T"	""	"likely pathogenic"	""
"0000811449"	"3"	"70"	"15"	"31360259"	"31360264"	"delins"	"0"	"00000"	"TRPM1_000171"	"g.31360259_31360264delinsATCTTTCAC"	""	"{PMID:Khan 2019:31725702}"	""	"Allele 1 c.245_250delinsGTGAAAGAT (p.Asp82_SerdelinsGlyGluArg), Allele 2 c.245_250delinsGTGAAAGAT (p.Asp82_SerdelinsGlyGluArg)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31068056_31068061delinsATCTTTCAC"	""	"likely pathogenic"	""
"0000811515"	"0"	"90"	"11"	"61726990"	"61726990"	"subst"	"0"	"00000"	"BEST1_000110"	"g.61726990C>A"	""	"{PMID:Kim 2019:31496144}"	""	"TRPM1 c.3911delA, p.N1304Ifs"	"different transcript: NM_001252020.1(TRPM1):c.3911del, p.(Asn1304Ilefs*42)"	"Germline"	"?"	""	"0"	""	""	"g.61959518C>A"	""	"pathogenic"	"ACMG"
"0000812598"	"0"	"90"	"15"	"31359262"	"31359265"	"del"	"0"	"00000"	"TRPM1_000127"	"g.31359262_31359265del"	""	"{PMID:Wang 2019:31106028}"	""	"c.552+3_552+6del, p.?"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31067059_31067062del"	""	"pathogenic"	""
"0000812599"	"0"	"90"	"15"	"31330341"	"31330341"	"dup"	"0"	"00000"	"TRPM1_000170"	"g.31330341dup"	""	"{PMID:Wang 2019:31106028}"	""	"c.2280dup, p.(Ile761Hisfs*10)"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31038138dup"	""	"pathogenic"	""
"0000813895"	"0"	"70"	"15"	"31323296"	"31323296"	"subst"	"1.62455E-5"	"00000"	"TRPM1_000121"	"g.31323296C>T"	""	"{PMID:Jiman 2020:31836858}"	""	"TRPM1;NM_002420.5;c.[2951G>A]p.[(Arg984His)]Heterozygous;(microarrayidentifieda15q13.3microdeletionreportedinthelossoftheTRPM1gene;NM_002420.5;c.(?_-1)_(*1_?)de"	"microarray identified a 15q13.3  heterozygous microdeletion reported in the loss of the TRPM1 gene; compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31031093C>T"	""	"likely pathogenic"	""
"0000813896"	"0"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Jiman 2020:31836858}"	""	"TRPM1;NM_002420.5;c.[2951G>A]p.[(Arg984His)]Heterozygous;(microarrayidentifieda15q13.3microdeletionreportedinthelossoftheTRPM1gene;NM_002420.5;c.(?_-1)_(*1_?)de"	"compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000816076"	"0"	"70"	"15"	"30917982"	"32535329"	"del"	"0"	"00000"	"TRPM1_000172"	"g.30917982_32535329del"	""	"{PMID:Zampaglione 2020:32037395}"	""	"TRPM1 chr15:30917982_32535329del"	"ARHGAP11B, HERC2P10, FAN1, TRPM1, KLF13, OTUD7A, CHRNA7, range 159136-1617347 bp in various techniques, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.30625778_32243125del"	""	"likely pathogenic"	""
"0000816512"	"0"	"50"	"15"	"31362327"	"31362327"	"subst"	"0"	"00000"	"TRPM1_000174"	"g.31362327C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.120G>A, p.Met40Ile"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31070124C>T"	""	"VUS"	""
"0000817653"	"1"	"70"	"15"	"31334220"	"31334220"	"subst"	"0"	"00000"	"TRPM1_000173"	"g.31334220A>G"	""	"{PMID:Zanolli 2020:32141364}"	""	"TRPM1 c.2072T>C; c.2899C>T"	"no protein change given, most probably a different transcript, NM_001252020.1(TRPM1):c.2072T>C, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31042017A>G"	""	"likely pathogenic"	""
"0000817654"	"2"	"70"	"15"	"31324996"	"31324996"	"subst"	"3.65476E-5"	"00000"	"TRPM1_000123"	"g.31324996G>A"	""	"{PMID:Zanolli 2020:32141364}"	""	"TRPM1 c.2072T>C; c.2899C>T"	"no protein change given, most probably a different transcript, NM_001252020.1(TRPM1):c.2899C>T, RCV000154022.7, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31032793G>A"	""	"likely pathogenic"	""
"0000817655"	"0"	"70"	"15"	"31359391"	"31359391"	"subst"	"4.06121E-6"	"00000"	"TRPM1_000164"	"g.31359391C>G"	""	"{PMID:Zanolli 2020:32141364}"	""	"TRPM1 c.428-1G>C"	"no protein change given, most probably a different transcript, NM_002420.5(TRPM1):c.428-1G>C, RCV001074146.1, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31067188C>G"	""	"likely pathogenic"	""
"0000818927"	"0"	"70"	"15"	"31294020"	"31369129"	"del"	"0"	"00000"	"TRPM1_000175"	"g.(?_31294020)_(31369129_?)del"	""	"{PMID:Ellingsford 2018:29074561}"	""	"c.(?_?1)_(*1_?)del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818929"	"0"	"70"	"15"	"31323243"	"31323243"	"subst"	"2.03056E-5"	"00000"	"TRPM1_000120"	"g.31323243T>A"	""	"{PMID:Ellingsford 2018:29074561}"	""	"c.3004A>T p.(Ile1002Phe)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000821397"	"3"	"70"	"15"	"31320673"	"31320673"	"subst"	"0"	"00000"	"TRPM1_000119"	"g.31320673C>T"	""	"{PMID:Turro 2020:32581362}"	""	"TRPM1 c.3206G>A, p.Cys1069Tyr"	"homozygous, different transcript: NM_001252020.1(TRPM1):c.3206G>A, p.(Cys1069Tyr)"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31028470C>T"	""	"likely pathogenic"	""
"0000821398"	"3"	"70"	"15"	"31359262"	"31359265"	"del"	"0"	"00000"	"TRPM1_000127"	"g.31359262_31359265del"	""	"{PMID:Turro 2020:32581362}"	""	"TRPM1 c.669+3_669+6delAAGT,"	"homozygous, different transcript: NM_001252020.1(TRPM1):c.669+3_669+6del"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31067059_31067062del"	""	"likely pathogenic"	""
"0000821399"	"0"	"70"	"15"	"31323243"	"31323243"	"subst"	"2.03056E-5"	"00000"	"TRPM1_000120"	"g.31323243T>A"	""	"{PMID:Turro 2020:32581362}"	""	"TRPM1 c.3121A>T, p.Ile1041Phe"	"heterozygous, different transcript: NM_001252020.1(TRPM1):c.3121A>T, p.(Ile1041Phe)"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31031040T>A"	""	"likely pathogenic"	""
"0000821400"	"3"	"70"	"15"	"31320614"	"31320614"	"dup"	"0"	"00000"	"TRPM1_000177"	"g.31320614dup"	""	"{PMID:Turro 2020:32581362}"	""	"TRPM1 c.3265dupT, p.Trp1089LeufsTer32"	"homozygous, different transcript: NM_001252020.1(TRPM1):c.3265dup, p.Trp1089LeufsTer32"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31028411dup"	""	"likely pathogenic"	""
"0000821604"	"0"	"70"	"15"	"31320654"	"31320654"	"subst"	"0"	"00000"	"TRPM1_000118"	"g.31320654A>T"	""	"{PMID:Turro 2020:32581362}"	""	"TRPM1 c.3225T>A, p.Asp1075Glu"	"heterozygous, different transcript: NM_001252020.1(TRPM1):c.3225T>A, p.Asp1075Glu"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31028451A>T"	""	"likely pathogenic"	""
"0000822058"	"3"	"70"	"15"	"31294890"	"31294890"	"subst"	"0"	"00000"	"TRPM1_000176"	"g.31294890A>C"	""	"{PMID:Habibi 2020:32641690}"	""	"TRPM1 c.[3947 T > G];[3947 T > G], p.[L1316R];[L1316R]"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.31002687A>C"	""	"likely pathogenic"	""
"0000823265"	"0"	"50"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Hull 2020:32856788}"	""	"TRPM1 nucleotide 1, protein 1:c.296T>C, p.Leu99Pro nucleotide 2, protein 2:c.3067G>A, p.Ala1023Thr"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.31068010A>G"	""	"VUS"	""
"0000823293"	"0"	"50"	"15"	"31321589"	"31321589"	"subst"	"0.000109663"	"00000"	"TRPM1_000185"	"g.31321589C>T"	""	"{PMID:Hull 2020:32856788}"	""	"TRPM1 nucleotide 1, protein 1:c.296T>C, p.Leu99Pro nucleotide 2, protein 2:c.3067G>A, p.Ala1023Thr"	"heterozygous, ACMG unclassified - no access to supplementary table 2"	"Germline"	"?"	""	"0"	""	""	"g.31029386C>T"	""	"VUS"	""
"0000825951"	"0"	"70"	"15"	"31354895"	"31354895"	"subst"	"0"	"00000"	"TRPM1_000156"	"g.31354895C>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.910G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825952"	"0"	"70"	"15"	"31359390"	"31359390"	"subst"	"0"	"00000"	"TRPM1_000157"	"g.31359390C>T"	""	"{PMID:Liu-2020:33090715}"	""	"c.428G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000829699"	"3"	"70"	"15"	"31358296"	"31358296"	"subst"	"4.06359E-6"	"00006"	"TRPM1_000126"	"g.31358296A>G"	""	"{PMID:Ellingford 2016:26872967}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.31066093A>G"	""	"likely pathogenic"	""
"0000853970"	"0"	"30"	"15"	"31294595"	"31294595"	"subst"	"0.000576711"	"02330"	"TRPM1_000179"	"g.31294595G>T"	""	""	""	"TRPM1(NM_001252020.2):c.4359C>A (p.P1453=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853971"	"0"	"50"	"15"	"31295003"	"31295003"	"subst"	"0.000113721"	"02330"	"TRPM1_000180"	"g.31295003G>A"	""	""	""	"TRPM1(NM_001252020.2):c.3951C>T (p.N1317=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853972"	"0"	"90"	"15"	"31319148"	"31319148"	"dup"	"0"	"01943"	"TRPM1_000181"	"g.31319148dup"	""	""	""	"TRPM1(NM_001252020.1):c.3520dupG (p.D1174Gfs*14)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000853973"	"0"	"50"	"15"	"31355370"	"31355370"	"subst"	"4.06289E-6"	"01943"	"TRPM1_000184"	"g.31355370G>A"	""	""	""	"TRPM1(NM_001252020.1):c.967C>T (p.R323C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863787"	"0"	"30"	"15"	"31339446"	"31339446"	"subst"	"0"	"02330"	"TRPM1_000182"	"g.31339446A>G"	""	""	""	"TRPM1(NM_001252020.2):c.1683T>C (p.L561=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863788"	"0"	"30"	"15"	"31341703"	"31341703"	"subst"	"0"	"01943"	"TRPM1_000183"	"g.31341703A>G"	""	""	""	"TRPM1(NM_001252020.1):c.1498T>C (p.L500=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000873266"	"3"	"70"	"15"	"31334152"	"31334152"	"subst"	"8.19793E-6"	"00000"	"TRPM1_000199"	"g.31334152A>G"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 IVS16+2T>C"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31041949A>G"	""	"likely pathogenic (recessive)"	""
"0000873267"	"3"	"70"	"15"	"31334152"	"31334152"	"subst"	"8.19793E-6"	"00000"	"TRPM1_000199"	"g.31334152A>G"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 IVS16+2T>C"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31041949A>G"	""	"likely pathogenic (recessive)"	""
"0000873268"	"3"	"70"	"15"	"31334152"	"31334152"	"subst"	"8.19793E-6"	"00000"	"TRPM1_000199"	"g.31334152A>G"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 IVS16+2T>C"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31041949A>G"	""	"likely pathogenic (recessive)"	""
"0000873269"	"1"	"70"	"15"	"31360097"	"31360097"	"del"	"0"	"00000"	"TRPM1_000203"	"g.31360097del"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 c.412delG [p.G138fs]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31067894del"	""	"likely pathogenic (recessive)"	""
"0000873270"	"0"	"70"	"15"	"31360289"	"31360289"	"subst"	"3.25026E-5"	"00000"	"TRPM1_000091"	"g.31360289G>A"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 c.220C>T [p.R74C]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068086G>A"	""	"likely pathogenic (recessive)"	""
"0000873271"	"0"	"70"	"15"	"31360289"	"31360289"	"subst"	"3.25026E-5"	"00000"	"TRPM1_000091"	"g.31360289G>A"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 c.220C>T [p.R74C]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068086G>A"	""	"likely pathogenic (recessive)"	""
"0000873272"	"2"	"70"	"15"	"31320657"	"31320657"	"subst"	"0"	"00000"	"TRPM1_000191"	"g.31320657A>T"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 c.3105T>A [p.Y1035X]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31028454A>T"	""	"likely pathogenic (recessive)"	""
"0000873273"	"0"	"70"	"15"	"31323243"	"31323243"	"subst"	"2.03056E-5"	"00000"	"TRPM1_000120"	"g.31323243T>A"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 c.3004A>T [p.I1002F]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31031040T>A"	""	"likely pathogenic (recessive)"	""
"0000873274"	"0"	"70"	"15"	"31323243"	"31323243"	"subst"	"2.03056E-5"	"00000"	"TRPM1_000120"	"g.31323243T>A"	""	"{PMID:Li 2009:19878917}"	""	"TRPM1 c.3004A>T [p.I1002F]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31031040T>A"	""	"likely pathogenic (recessive)"	""
"0000873275"	"3"	"70"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 chr15: 31355203-31391647del, no functional protein"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"likely pathogenic (recessive)"	""
"0000873276"	"11"	"70"	"15"	"31362368"	"31362368"	"del"	"0"	"00000"	"TRPM1_000204"	"g.31362368del"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.83delA, p.Asn28MetfsX62"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31070165del"	""	"likely pathogenic (recessive)"	""
"0000873277"	"1"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.296T>C, p.Leu99Pro"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068010A>G"	""	"likely pathogenic (recessive)"	""
"0000873278"	"21"	"70"	"15"	"31360289"	"31360289"	"subst"	"3.25026E-5"	"00000"	"TRPM1_000091"	"g.31360289G>A"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.220C>T, p.Arg74Cys"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068086G>A"	""	"likely pathogenic (recessive)"	""
"0000873279"	"1"	"70"	"15"	"31323185"	"31323185"	"subst"	"5.68583E-5"	"00000"	"TRPM1_000159"	"g.31323185C>T"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.3061+1G>A, absence exon 22+"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31030982C>T"	""	"likely pathogenic (recessive)"	""
"0000873280"	"0"	"70"	"15"	"31332320"	"31332320"	"subst"	"1.21959E-5"	"00000"	"TRPM1_000160"	"g.31332320C>T"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.2250+1G>A, absence exon 17+"	"single heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31040117C>T"	""	"likely pathogenic (recessive)"	""
"0000873281"	"21"	"70"	"15"	"31339412"	"31339412"	"subst"	"8.12183E-6"	"00000"	"TRPM1_000162"	"g.31339412C>T"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.1600G>A, p.Gly534Arg"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31047209C>T"	""	"likely pathogenic (recessive)"	""
"0000873282"	"2"	"70"	"15"	"31334343"	"31334343"	"subst"	"8.12315E-6"	"00000"	"TRPM1_000113"	"g.31334343G>T"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.1832C>A, p.Pro611His"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31042140G>T"	""	"likely pathogenic (recessive)"	""
"0000873283"	"10"	"70"	"15"	"31353650"	"31353650"	"subst"	"2.03061E-5"	"00000"	"TRPM1_000163"	"g.31353650A>C"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.1091T>G, p.Leu364Arg"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31061447A>C"	""	"likely pathogenic (recessive)"	""
"0000873284"	"2"	"70"	"15"	"31320620"	"31320620"	"subst"	"1.62446E-5"	"00000"	"TRPM1_000131"	"g.31320620C>T"	""	"{PMID:van Genderen 2009:19896109}"	""	"TRPM1 c.3142G>A, p.Gly1048Ser#"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31028417C>T"	""	"likely pathogenic (recessive)"	""
"0000873341"	"3"	"70"	"15"	"31341666"	"31341666"	"subst"	"0"	"00000"	"TRPM1_000155"	"g.31341666C>G"	"0/286 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.1418G>C, p.Arg473Pro"	"homozygous?"	"Germline"	"yes"	""	"0"	""	""	"g.31049463C>G"	""	"likely pathogenic"	""
"0000873342"	"3"	"70"	"15"	"31341666"	"31341666"	"subst"	"0"	"00000"	"TRPM1_000155"	"g.31341666C>G"	"0/286 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.1418G>C, p.Arg473Pro"	"homozygous?"	"Germline"	"yes"	""	"0"	""	""	"g.31049463C>G"	""	"likely pathogenic"	""
"0000873343"	"21"	"70"	"15"	"31362416"	"31362416"	"subst"	"0"	"00000"	"TRPM1_000205"	"g.31362416G>A"	"0/352 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.31C>T, p.Gln11X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31070213G>A"	""	"likely pathogenic"	""
"0000873344"	"3"	"70"	"15"	"31327816"	"31327816"	"subst"	"8.12189E-6"	"00000"	"TRPM1_000111"	"g.31327816C>T"	"0/366 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.2567G>A, p.Trp856X"	"homozygous?"	"Unknown"	"?"	""	"0"	""	""	"g.31035613C>T"	""	"likely pathogenic"	""
"0000873345"	"1"	"70"	"15"	"31352747"	"31352747"	"subst"	"1.62587E-5"	"00000"	"TRPM1_000112"	"g.31352747C>T"	"0/350 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.1197G>A, p.Pro399Pro/splice defect?"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31060544C>T"	""	"likely pathogenic"	""
"0000873346"	"10"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	"0/210 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.215A>G, p.Tyr72Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	""
"0000873347"	"11"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	"0/210 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.215A>G, p.Tyr72Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	""
"0000873348"	"1"	"70"	"15"	"31327748"	"31327748"	"subst"	"4.06161E-6"	"00000"	"TRPM1_000195"	"g.31327748C>T"	"0/366 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.2634+1G>A, splice defect"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31035545C>T"	""	"likely pathogenic"	""
"0000873349"	"3"	"70"	"15"	"31369151"	"31369151"	"subst"	"1.62477E-5"	"00000"	"TRPM1_000136"	"g.31369151G>A"	"0/348 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.1-27C>T (70+TRPM1), 50 UTR expression defect"	"different transcript - NM_001252024.1(TRPM1):c.40C>T, p.(Arg14Trp); homozygous; not certain which transcript makes it causative"	"Germline"	"?"	""	"0"	""	""	"g.31076948G>A"	""	"likely pathogenic"	""
"0000873350"	"21"	"50"	"15"	"31330298"	"31330298"	"subst"	"0"	"00000"	"TRPM1_000198"	"g.31330298A>T"	"0/380 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.2322T>A, p.Tyr774X"	"single heterozygous, no second allele found"	"Germline"	"?"	""	"0"	""	""	"g.31038095A>T"	""	"VUS"	""
"0000873351"	"0"	"50"	"15"	"31339390"	"31339390"	"subst"	"4.06091E-6"	"00000"	"TRPM1_000161"	"g.31339390A>T"	"0/214 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.1622T>A, p.Met541Lys"	"single heterozygous, no second allele found"	"Unknown"	"?"	""	"0"	""	""	"g.31047187A>T"	""	"VUS"	""
"0000873352"	"11"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	"0/224 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.296T>C, p.Leu99Pro"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31068010A>G"	""	"likely pathogenic"	""
"0000873353"	"2"	"70"	"15"	"31318414"	"31318414"	"del"	"4.08473E-6"	"00000"	"TRPM1_000187"	"g.31318414del"	"0/266 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.3491delA, p.Gln1164ArgfsX31"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31026211del"	""	"likely pathogenic"	""
"0000873354"	"21"	"70"	"15"	"31320668"	"31320668"	"subst"	"4.06105E-6"	"00000"	"TRPM1_000192"	"g.31320668C>A"	"0/370 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.3094G>T, p.Glu1032X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31028465C>A"	""	"likely pathogenic"	""
"0000873355"	"21"	"70"	"15"	"31359393"	"31359393"	"subst"	"1.21833E-5"	"00000"	"TRPM1_000202"	"g.31359393G>C"	"0/298 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.428-3C>G, splice defect"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31067190G>C"	""	"likely pathogenic"	""
"0000873356"	"2"	"70"	"15"	"31295003"	"31295003"	"subst"	"0.000113721"	"00000"	"TRPM1_000180"	"g.31295003G>A"	"0/304 control alleles"	"{PMID:Audo 2009:19896113}"	""	"TRPM1 c.3834C>T, p.Asn1278Asn"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31002800G>A"	""	"likely pathogenic"	""
"0000873359"	"21"	"70"	"15"	"31362432"	"31362432"	"subst"	"1.22371E-5"	"00000"	"TRPM1_000206"	"g.31362432G>C"	"0/100 Japanese normal controls"	"{PMID:Nakamura 2010:20300565}"	""	"TRPM1 IVS3-3C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31070229G>C"	""	"likely pathogenic"	""
"0000873360"	"11"	"70"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00000"	"TRPM1_000003"	"g.31334305G>A"	""	"{PMID:Nakamura 2010:20300565}"	""	"TRPM1 c.1870C>T, R624C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31042102G>A"	""	"likely pathogenic"	""
"0000873361"	"21"	"70"	"15"	"31354778"	"31354781"	"del"	"0"	"00000"	"TRPM1_000201"	"g.31354778_31354781del"	"0/100 Japanese normal controls"	"{PMID:Nakamura 2010:20300565}"	""	"TRPM1 IVS9+3_6delAAGT"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31062575_31062578del"	""	"likely pathogenic"	""
"0000873362"	"11"	"70"	"15"	"31320538"	"31320538"	"subst"	"0"	"00000"	"TRPM1_000188"	"g.31320538A>G"	""	"{PMID:Nakamura 2010:20300565}"	""	"TRPM1 c.3224T>C, F1075S"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31028335A>G"	""	"likely pathogenic"	""
"0000873363"	"21"	"70"	"15"	"31325133"	"31325133"	"subst"	"0"	"00000"	"TRPM1_000194"	"g.31325133G>T"	""	"{PMID:Nakamura 2010:20300565}"	""	"TRPM1 c.2645C>A, S882X"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31032930G>T"	""	"likely pathogenic"	""
"0000873364"	"11"	"70"	"15"	"31334305"	"31334305"	"subst"	"5.28005E-5"	"00000"	"TRPM1_000003"	"g.31334305G>A"	""	"{PMID:Nakamura 2010:20300565}"	""	"TRPM1 c.1870C>T, R624C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31042102G>A"	""	"likely pathogenic"	""
"0000873658"	"3"	"70"	"15"	"31330025"	"31330025"	"del"	"0"	"00000"	"TRPM1_000186"	"g.31330025del"	""	"{PMID:Al Oreany 2016:27084085}"	""	"TRPM1 NM_001252020.1:c.2394delC"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31037822del"	""	"likely pathogenic"	""
"0000873659"	"3"	"70"	"15"	"31330025"	"31330025"	"del"	"0"	"00000"	"TRPM1_000186"	"g.31330025del"	""	"{PMID:Al Oreany 2016:27084085}"	""	"TRPM1 NM_001252020.1:c.2394delC"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31037822del"	""	"likely pathogenic"	""
"0000873704"	"11"	"70"	"15"	"31359262"	"31359265"	"del"	"0"	"00000"	"TRPM1_000127"	"g.31359262_31359265del"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.669+3_669+6del"	"different transcript, NM_001252020.1(TRPM1):c.669+3_669+6del; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31067059_31067062del"	""	"likely pathogenic"	""
"0000873705"	"11"	"70"	"15"	"31359262"	"31359265"	"del"	"0"	"00000"	"TRPM1_000127"	"g.31359262_31359265del"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.669+3_669+6del"	"different transcript, NM_001252020.1(TRPM1):c.669+3_669+6del; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31067059_31067062del"	""	"likely pathogenic"	""
"0000873706"	"11"	"70"	"15"	"31359262"	"31359265"	"del"	"0"	"00000"	"TRPM1_000127"	"g.31359262_31359265del"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.669+3_669+6del"	"different transcript, NM_001252020.1(TRPM1):c.669+3_669+6del; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31067059_31067062del"	""	"likely pathogenic"	""
"0000873707"	"21"	"70"	"15"	"31320617"	"31320617"	"subst"	"2.03062E-5"	"00000"	"TRPM1_000189"	"g.31320617C>T"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.3262G>A, p.Ala1088Thr"	"different transcript, NM_001252020.1(TRPM1):c.3262G>A, p.Ala1088Thr; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31028414C>T"	""	"likely pathogenic"	""
"0000873708"	"21"	"70"	"15"	"31329942"	"31329942"	"subst"	"6.49762E-5"	"00000"	"TRPM1_000197"	"g.31329942G>A"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.2594C>T, p.Ala865Val"	"different transcript, NM_001252020.1(TRPM1):c.2594C>T, p.Ala865Val; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31037739G>A"	""	"likely pathogenic"	""
"0000873709"	"21"	"70"	"15"	"31329942"	"31329942"	"subst"	"6.49762E-5"	"00000"	"TRPM1_000197"	"g.31329942G>A"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.2594C>T, p.Ala865Val"	"different transcript, NM_001252020.1(TRPM1):c.2594C>T, p.Ala865Val; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31037739G>A"	""	"likely pathogenic"	""
"0000873710"	"21"	"70"	"15"	"31329942"	"31329942"	"subst"	"6.49762E-5"	"00000"	"TRPM1_000197"	"g.31329942G>A"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.2594C>T, p.Ala865Val"	"different transcript, NM_001252020.1(TRPM1):c.2594C>T, p.Ala865Val; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31037739G>A"	""	"likely pathogenic"	""
"0000873711"	"11"	"70"	"15"	"31320629"	"31320629"	"subst"	"0"	"00000"	"TRPM1_000190"	"g.31320629A>G"	"0/192 control chromosomes"	"{PMID:Zhou 2016:27803854}"	""	"TRPM1 c.3250T>C, p.Cys1084Arg"	"different transcript, NM_001252020.1(TRPM1):c.3250T>C, p.Cys1084Arg; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31028426A>G"	""	"likely pathogenic"	""
"0000873728"	"0"	"70"	"15"	"31354781"	"31354781"	"subst"	"2.03209E-5"	"00000"	"TRPM1_000106"	"g.31354781C>T"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.1023+1G>A, Splice site"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31062578C>T"	""	"likely pathogenic"	""
"0000873729"	"0"	"70"	"15"	"31354781"	"31354781"	"subst"	"2.03209E-5"	"00000"	"TRPM1_000106"	"g.31354781C>T"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.1023+1G>A, Splice site"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31062578C>T"	""	"likely pathogenic"	""
"0000873730"	"3"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.215A>G, p.Y72C"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	""
"0000873731"	"3"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.215A>G, p.Y72C"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	""
"0000873732"	"0"	"70"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.296T>C, p.L99P,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31068010A>G"	""	"likely pathogenic"	""
"0000873733"	"0"	"70"	"15"	"31323353"	"31323353"	"subst"	"0"	"00000"	"TRPM1_000193"	"g.31323353T>G"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.2894A>C, p.D965A"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31031150T>G"	""	"likely pathogenic"	""
"0000873734"	"0"	"70"	"15"	"31334304"	"31334304"	"subst"	"6.09246E-5"	"00000"	"TRPM1_000147"	"g.31334304C>T"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.1871G>A, p.R624H"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31042101C>T"	""	"likely pathogenic"	""
"0000873735"	"0"	"70"	"15"	"31341678"	"31341678"	"subst"	"6.49751E-5"	"00000"	"TRPM1_000138"	"g.31341678A>G"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.1406T>C, p.L469S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31049475A>G"	""	"likely pathogenic"	""
"0000873736"	"0"	"70"	"15"	"31341678"	"31341678"	"subst"	"6.49751E-5"	"00000"	"TRPM1_000138"	"g.31341678A>G"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.1406T>C, p.L469S"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31049475A>G"	""	"likely pathogenic"	""
"0000873737"	"0"	"70"	"15"	"31327786"	"31327788"	"del"	"0"	"00000"	"TRPM1_000196"	"g.31327786_31327788del"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 c.2597_2599del, p.Ser866del"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.31035583_31035585del"	""	"likely pathogenic"	""
"0000873738"	"0"	"50"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 deletion of exon 2-7, no functional protein"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"VUS"	""
"0000873739"	"0"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	"0/192 control chromosomes"	"{PMID:Utz 2018:29522070}"	""	"TRPM1 undefined large deletion encompassing TRPM1, lack of protein"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000873741"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873742"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873743"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873744"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873745"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873746"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873747"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873748"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873749"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873750"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873751"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873752"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873753"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873754"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873755"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873756"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873757"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873758"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873759"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873760"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873761"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873762"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873763"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873764"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873765"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873766"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873767"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873768"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873769"	"3"	"90"	"15"	"31355340"	"31355340"	"subst"	"0"	"00000"	"TRPM1_000046"	"g.31355340T>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.880A>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063137T>A"	""	"pathogenic"	"ACMG"
"0000873770"	"3"	"90"	"15"	"31327754"	"31327754"	"subst"	"4.06161E-6"	"00000"	"TRPM1_000035"	"g.31327754G>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.2629C>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31035551G>A"	""	"pathogenic"	"ACMG"
"0000873771"	"3"	"90"	"15"	"31327754"	"31327754"	"subst"	"4.06161E-6"	"00000"	"TRPM1_000035"	"g.31327754G>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.2629C>T"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31035551G>A"	""	"pathogenic"	"ACMG"
"0000873772"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873773"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873774"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873775"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873776"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873777"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873778"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873779"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873780"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873781"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873782"	"3"	"90"	"15"	"31355205"	"31391649"	"del"	"0"	"00000"	"MIR211_000001"	"g.31355205_31391649del"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 chr15: 31355203- 31391647del"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063002_31099446del"	""	"pathogenic"	"ACMG"
"0000873783"	"1"	"70"	"15"	"31355323"	"31355323"	"subst"	"0"	"00000"	"TRPM1_000149"	"g.31355323G>A"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.897C>T"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31063120G>A"	""	"likely pathogenic"	"ACMG"
"0000873784"	"2"	"70"	"15"	"31324995"	"31324995"	"subst"	"2.84259E-5"	"00000"	"TRPM1_000007"	"g.31324995C>T"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.2783G>A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31032792C>T"	""	"likely pathogenic"	"ACMG"
"0000873785"	"0"	"50"	"15"	"31327816"	"31327816"	"subst"	"8.12189E-6"	"00000"	"TRPM1_000111"	"g.31327816C>T"	""	"{PMID:AlTalbishi 2019:31427709}"	""	"TRPM1 c.2567G>A"	"single heterozygous, no second allele found"	"Germline"	"yes"	""	"0"	""	""	"g.31035613C>T"	""	"VUS"	"ACMG"
"0000873786"	"3"	"70"	"15"	"31341690"	"31341690"	"subst"	"0"	"00000"	"TRPM1_000200"	"g.31341690A>T"	""	"{PMID:Al Hujaili 2019:31908403}"	""	"TRPM1 c.1394T>A, p.(Met465Lys)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31049487A>T"	""	"likely pathogenic"	"ACMG"
"0000873787"	"3"	"70"	"15"	"31341690"	"31341690"	"subst"	"0"	"00000"	"TRPM1_000200"	"g.31341690A>T"	""	"{PMID:Al Hujaili 2019:31908403}"	""	"TRPM1 c.1394T>A, p.(Met465Lys)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.31049487A>T"	""	"likely pathogenic"	"ACMG"
"0000874368"	"21"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"04364"	"TRPM1_000134"	"g.31360294T>C"	""	""	""	"31362298T>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic"	"ACMG"
"0000874535"	"0"	"70"	"15"	"31319118"	"31319119"	"del"	"0"	"04364"	"TRPM1_000209"	"g.31319118_31319119del"	""	""	""	"3429_3430delGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.31026915_31026916del"	""	"pathogenic (recessive)"	"ACMG"
"0000874542"	"3"	"70"	"15"	"31321573"	"31321573"	"subst"	"1.62692E-5"	"04364"	"TRPM1_000207"	"g.31321573C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000874545"	"3"	"70"	"15"	"31318399"	"31318399"	"del"	"0"	"04364"	"TRPM1_000208"	"g.31318399del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.31026196del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000874548"	"3"	"70"	"15"	"31354781"	"31354781"	"subst"	"2.03209E-5"	"04364"	"TRPM1_000106"	"g.31354781C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.31062578C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000891992"	"0"	"50"	"15"	"31294288"	"31294288"	"subst"	"1.21834E-5"	"02330"	"TRPM1_000210"	"g.31294288G>A"	""	""	""	"TRPM1(NM_001252020.2):c.4666C>T (p.R1556*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000891993"	"0"	"30"	"15"	"31294457"	"31294457"	"subst"	"0"	"02330"	"TRPM1_000211"	"g.31294457T>G"	""	""	""	"TRPM1(NM_001252020.2):c.4497A>C (p.S1499=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891994"	"0"	"30"	"15"	"31339305"	"31339305"	"subst"	"0.00878782"	"02330"	"TRPM1_000078"	"g.31339305G>C"	""	""	""	"TRPM1(NM_001252020.1):c.1815+9C>G, TRPM1(NM_001252020.2):c.1815+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891995"	"0"	"30"	"15"	"31341599"	"31341599"	"subst"	"4.46701E-5"	"02330"	"TRPM1_000212"	"g.31341599C>T"	""	""	""	"TRPM1(NM_001252020.2):c.1602G>A (p.R534=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891996"	"0"	"30"	"15"	"31342759"	"31342759"	"subst"	"4.92397E-5"	"02330"	"TRPM1_000213"	"g.31342759C>T"	""	""	""	"TRPM1(NM_001252020.2):c.1341G>A (p.T447=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891997"	"0"	"30"	"15"	"31362255"	"31362255"	"subst"	"0.00052806"	"02330"	"TRPM1_000214"	"g.31362255G>A"	""	""	""	"TRPM1(NM_001252020.2):c.309C>T (p.G103=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000905867"	"0"	"50"	"15"	"31295094"	"31295094"	"subst"	"0.000146308"	"00000"	"TRPM1_000215"	"g.31295094C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.3743G>A, p.(Arg1248Gln)"	"different transcript, NM_002420.4(TRPM1):c.3743G>A is NM_001252024.1(TRPM1):c.3809G>A, p.(Arg1270Gln); heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31002891C>T"	""	"VUS"	"ACMG"
"0000905885"	"0"	"90"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 , whole gene deletion"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000905890"	"0"	"50"	"15"	"31341623"	"31341623"	"subst"	"4.06091E-6"	"00000"	"TRPM1_000216"	"g.31341623C>G"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.1461G>C, p.(Met487Ile)"	"different transcript, NM_002420.4(TRPM1):c.1461G>C is NM_001252024.1(TRPM1):c.1527G>C, p.(Met509Ile); heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31049420C>G"	""	"VUS"	"ACMG"
"0000905899"	"0"	"90"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.215A>G, p.(Tyr72Cys)"	"different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"pathogenic"	"ACMG"
"0000905900"	"0"	"70"	"15"	"31323243"	"31323243"	"subst"	"2.03056E-5"	"00000"	"TRPM1_000120"	"g.31323243T>A"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.3004A>T, p.(Ile1002Phe)"	"different transcript, NM_002420.4(TRPM1):c.3004A>T is NM_001252024.1(TRPM1):c.3070A>T, p.(Ile1024Phe); compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31031040T>A"	""	"likely pathogenic"	"ACMG"
"0000905905"	"0"	"90"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.296T>C, p.(Leu99Pro)"	"different transcript, NM_002420.4(TRPM1):c.296T>C is NM_001252024.1(TRPM1):c.362T>C, p.(Leu121Pro); compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31068010A>G"	""	"pathogenic"	"ACMG"
"0000905906"	"0"	"90"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.215A>G, p.(Tyr72Cys)"	"different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"pathogenic"	"ACMG"
"0000905907"	"0"	"90"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00000"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.296T>C, p.(Leu99Pro)"	"different transcript, NM_002420.4(TRPM1):c.296T>C is NM_001252024.1(TRPM1):c.362T>C, p.(Leu121Pro); compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31068010A>G"	""	"pathogenic"	"ACMG"
"0000905908"	"0"	"90"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00000"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.215A>G, p.(Tyr72Cys)"	"different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31068091T>C"	""	"pathogenic"	"ACMG"
"0000905939"	"0"	"50"	"15"	"31360127"	"31360127"	"subst"	"2.8431E-5"	"00000"	"TRPM1_000217"	"g.31360127C>A"	""	"{PMID:Zhu 2022:35456422}"	""	"TRPM1 c.382G>T, p.(Ala128Ser)"	"different transcript, NM_002420.4(TRPM1):c.382G>T is NM_001252024.1(TRPM1):c.448G>T, p.(Ala150Ser); heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.31067924C>A"	""	"VUS"	"ACMG"
"0000916493"	"1"	"50"	"15"	"31362407"	"31362407"	"subst"	"0"	"04436"	"TRPM1_000221"	"g.31362407G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.40C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916494"	"2"	"90"	"15"	"31334209"	"31334209"	"subst"	"0"	"04436"	"TRPM1_000218"	"g.31334209G>A"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1966C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000916661"	"1"	"50"	"15"	"31362256"	"31362256"	"subst"	"0"	"04436"	"TRPM1_000220"	"g.31362256C>G"	""	"{PMID:Panneman 2023:36819107}"	""	"c.191G>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916662"	"2"	"50"	"15"	"31339346"	"31339346"	"subst"	"0"	"04436"	"TRPM1_000219"	"g.31339346C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1666G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000925951"	"0"	"30"	"15"	"31320528"	"31320528"	"subst"	"0.000946362"	"02330"	"TRPM1_000222"	"g.31320528C>T"	""	""	""	"TRPM1(NM_001252020.2):c.3344+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925952"	"0"	"70"	"15"	"31320641"	"31320641"	"subst"	"9.74651E-5"	"02327"	"TRPM1_000223"	"g.31320641G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000925953"	"0"	"50"	"15"	"31339376"	"31339376"	"subst"	"4.06081E-6"	"02330"	"TRPM1_000224"	"g.31339376G>A"	""	""	""	"TRPM1(NM_001252020.2):c.1753C>T (p.R585C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000950324"	"0"	"30"	"15"	"31294232"	"31294232"	"subst"	"0.000808148"	"02330"	"TRPM1_000225"	"g.31294232C>T"	""	""	""	"TRPM1(NM_001252020.2):c.4722G>A (p.L1574=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950325"	"0"	"10"	"15"	"31342744"	"31342744"	"subst"	"0.552828"	"02327"	"TRPM1_000226"	"g.31342744C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000950326"	"0"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"02327"	"TRPM1_000134"	"g.31360294T>C"	""	""	""	"TRPM1(NM_001252020.1):c.332A>G (p.Y111C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000958192"	"3"	"70"	"15"	"31319315"	"31319320"	"delins"	"0"	"00006"	"TRPM1_000053"	"g.31319315_31319320delinsTAATTGATTTTA"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.31027112_31027117delinsTAATTGATTTTA"	""	"likely pathogenic (recessive)"	"ACMG"
"0000958897"	"21"	"70"	"15"	"31360294"	"31360294"	"subst"	"0.000158453"	"00006"	"TRPM1_000134"	"g.31360294T>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP5_STRONG"	"Germline"	""	""	"0"	""	""	"g.31068091T>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0000959015"	"0"	"70"	"15"	"31334259"	"31334259"	"del"	"0"	"00006"	"TRPM1_000227"	"g.31334259del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.31042056del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000959076"	"0"	"50"	"15"	"31360213"	"31360213"	"subst"	"0.000109663"	"00006"	"TRPM1_000129"	"g.31360213A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP5"	"Germline"	""	""	"0"	""	""	"g.31068010A>G"	""	"VUS"	"ACMG"
"0000959333"	"0"	"50"	"15"	"31355345"	"31355345"	"subst"	"8.12645E-6"	"00006"	"TRPM1_000228"	"g.31355345G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.31063142G>T"	""	"VUS"	"ACMG"
"0000981146"	"0"	"30"	"15"	"31373644"	"31373644"	"subst"	"0"	"01804"	"TRPM1_000229"	"g.31373644A>T"	""	""	""	"TRPM1(NM_001252024.2):c.-83-3T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981147"	"0"	"30"	"15"	"31373646"	"31373646"	"subst"	"0"	"01804"	"TRPM1_000230"	"g.31373646G>C"	""	""	""	"TRPM1(NM_001252024.2):c.-83-5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001280"	"0"	"30"	"15"	"31295119"	"31295119"	"subst"	"0"	"01804"	"TRPM1_000231"	"g.31295119A>C"	""	""	""	"TRPM1(NM_001252024.1):c.3784T>G (p.(Ser1262Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001001281"	"0"	"50"	"15"	"31332329"	"31332329"	"subst"	"1.62566E-5"	"01804"	"TRPM1_000232"	"g.31332329C>T"	""	""	""	"TRPM1(NM_001252024.1):c.2308G>A (p.(Gly770Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040262"	"0"	"50"	"15"	"31295059"	"31295059"	"subst"	"5.68639E-5"	"01804"	"TRPM1_000233"	"g.31295059G>A"	""	""	""	"TRPM1(NM_001252024.2):c.3844C>T (p.(Arg1282Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040263"	"0"	"50"	"15"	"31320637"	"31320637"	"subst"	"5.68542E-5"	"01804"	"TRPM1_000022"	"g.31320637A>C"	""	""	""	"TRPM1(NM_001252020.1):c.3242T>G (p.L1081R), TRPM1(NM_001252024.2):c.3191T>G (p.(Leu1064Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040264"	"0"	"50"	"15"	"31327772"	"31327772"	"subst"	"1.6245E-5"	"01804"	"TRPM1_000032"	"g.31327772G>C"	""	""	""	"TRPM1(NM_001252020.1):c.2728C>G (p.L910V), TRPM1(NM_001252024.2):c.2677C>G (p.(Leu893Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040265"	"0"	"50"	"15"	"31332502"	"31332502"	"subst"	"0"	"01804"	"TRPM1_000234"	"g.31332502T>G"	""	""	""	"TRPM1(NM_001252024.2):c.2135A>C (p.(His712Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001047075"	"1"	"50"	"15"	"31332488"	"31332488"	"subst"	"0.00872327"	"00006"	"TRPM1_000039"	"g.31332488C>G"	"2/248 controls"	"{PMID:Rohlin 2016:26493165}"	""	"2200G>C (Ala734Pro)"	"rare variant unlikely to be disease causing"	"Germline"	"yes"	""	"0"	""	""	"g.31040285C>G"	""	"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 TRPM1
## Count = 1018
"{{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}}"
"0000060543"	"00021906"	"70"	"2647"	"0"	"2647"	"0"	"c.2647G>A"	"r.(?)"	"p.(Glu883Lys)"	"21"
"0000060544"	"00021906"	"50"	"3841"	"0"	"3841"	"0"	"c.3841A>G"	"r.(?)"	"p.(Glu1281Lys)"	"27"
"0000060545"	"00021906"	"90"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	"16"
"0000060546"	"00021906"	"90"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	"16"
"0000060547"	"00021906"	"90"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	"16"
"0000060548"	"00021906"	"90"	"3327"	"0"	"3328"	"0"	"c.3327_3328dup"	"r.(?)"	"p.(Pro1110Hisfs*3)"	"25"
"0000060550"	"00021906"	"90"	"416"	"0"	"416"	"0"	"c.416G>T"	"r.(?)"	"p.(Gly139Val)"	"4"
"0000060551"	"00021906"	"90"	"416"	"0"	"416"	"0"	"c.416G>T"	"r.(?)"	"p.(Gly139Val)"	"4"
"0000060552"	"00021906"	"50"	"398"	"0"	"398"	"0"	"c.398C>A"	"r.(?)"	"p.(Ala133Asp)"	"4"
"0000060553"	"00021906"	"50"	"398"	"0"	"398"	"0"	"c.398C>A"	"r.(?)"	"p.(Ala133Asp)"	"4"
"0000060554"	"00021906"	"90"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Arg928Gln)"	"21"
"0000060556"	"00021906"	"90"	"857"	"0"	"857"	"0"	"c.857C>T"	"r.(?)"	"p.(Ser286Leu)"	"7"
"0000079340"	"00025650"	"90"	"-1528103"	"0"	"914699"	"0"	"c.-1528103_*909821del"	"r.0?"	"p.0?"	""
"0000079340"	"00021906"	"00"	"-1528083"	"0"	"914633"	"0"	"c.-1528083_*909821del"	"r.?"	"p.?"	""
"0000079340"	"00025545"	"90"	"-1468717"	"0"	"914750"	"0"	"c.-1468717_*909821del"	"r.0?"	"p.0?"	""
"0000079384"	"00025650"	"90"	"-1320213"	"0"	"385337"	"0"	"c.-1320213_*380459del"	"r.0?"	"p.0?"	""
"0000079384"	"00021906"	"00"	"-1320193"	"0"	"385271"	"0"	"c.-1320193_*380459del"	"r.?"	"p.?"	""
"0000079384"	"00025545"	"90"	"-1260827"	"0"	"385388"	"0"	"c.-1260827_*380459del"	"r.0?"	"p.0?"	""
"0000079477"	"00025650"	"90"	"-1528103"	"0"	"633758"	"0"	"c.-1528103_*628880del"	"r.0?"	"p.0?"	""
"0000079477"	"00021906"	"00"	"-1528083"	"0"	"633692"	"0"	"c.-1528083_*628880del"	"r.?"	"p.?"	""
"0000079477"	"00025545"	"90"	"-1468717"	"0"	"633809"	"0"	"c.-1468717_*628880del"	"r.0?"	"p.0?"	""
"0000247338"	"00025650"	"10"	"2939"	"0"	"2939"	"0"	"c.2939T>C"	"r.(?)"	"p.(Met980Thr)"	""
"0000247338"	"00021906"	"10"	"2873"	"0"	"2873"	"0"	"c.2873T>C"	"r.(?)"	"p.(Met958Thr)"	""
"0000247338"	"00025545"	"10"	"2990"	"0"	"2990"	"0"	"c.2990T>C"	"r.(?)"	"p.(Met997Thr)"	""
"0000247342"	"00025650"	"10"	"1573"	"-10"	"1573"	"-10"	"c.1573-10T>C"	"r.(=)"	"p.(=)"	""
"0000247342"	"00021906"	"10"	"1507"	"-10"	"1507"	"-10"	"c.1507-10T>C"	"r.(=)"	"p.(=)"	""
"0000247342"	"00025545"	"10"	"1624"	"-10"	"1624"	"-10"	"c.1624-10T>C"	"r.(=)"	"p.(=)"	""
"0000255845"	"00025650"	"30"	"3970"	"0"	"3970"	"0"	"c.3970T>C"	"r.(?)"	"p.(Cys1324Arg)"	""
"0000255845"	"00021906"	"30"	"3904"	"0"	"3904"	"0"	"c.3904T>C"	"r.(?)"	"p.(Cys1302Arg)"	""
"0000255845"	"00025545"	"30"	"4021"	"0"	"4021"	"0"	"c.4021T>C"	"r.(?)"	"p.(Cys1341Arg)"	""
"0000256206"	"00025650"	"50"	"3191"	"0"	"3191"	"0"	"c.3191T>G"	"r.(?)"	"p.(Leu1064Arg)"	""
"0000256206"	"00021906"	"50"	"3125"	"0"	"3125"	"0"	"c.3125T>G"	"r.(?)"	"p.(Leu1042Arg)"	""
"0000256206"	"00025545"	"50"	"3242"	"0"	"3242"	"0"	"c.3242T>G"	"r.(?)"	"p.(Leu1081Arg)"	""
"0000309520"	"00025650"	"10"	"-59388"	"0"	"-59388"	"0"	"c.-59388A>G"	"r.(?)"	"p.(=)"	""
"0000309520"	"00021906"	"10"	"-59368"	"0"	"-59368"	"0"	"c.-59368A>G"	"r.(?)"	"p.(=)"	""
"0000309520"	"00025545"	"10"	"-2"	"0"	"-2"	"0"	"c.-2A>G"	"r.(?)"	"p.(=)"	""
"0000309522"	"00025650"	"50"	"1285"	"0"	"1285"	"0"	"c.1285C>A"	"r.(?)"	"p.(Pro429Thr)"	""
"0000309522"	"00021906"	"50"	"1219"	"0"	"1219"	"0"	"c.1219C>A"	"r.(?)"	"p.(Pro407Thr)"	""
"0000309522"	"00025545"	"50"	"1336"	"0"	"1336"	"0"	"c.1336C>A"	"r.(?)"	"p.(Pro446Thr)"	""
"0000309523"	"00025650"	"10"	"1377"	"0"	"1377"	"0"	"c.1377G>A"	"r.(?)"	"p.(Gly459=)"	""
"0000309523"	"00021906"	"10"	"1311"	"0"	"1311"	"0"	"c.1311G>A"	"r.(?)"	"p.(Gly437=)"	""
"0000309523"	"00025545"	"10"	"1428"	"0"	"1428"	"0"	"c.1428G>A"	"r.(?)"	"p.(Gly476=)"	""
"0000309525"	"00025650"	"50"	"1484"	"0"	"1484"	"0"	"c.1484G>A"	"r.(?)"	"p.(Arg495His)"	""
"0000309525"	"00021906"	"50"	"1418"	"0"	"1418"	"0"	"c.1418G>A"	"r.(?)"	"p.(Arg473His)"	""
"0000309525"	"00025545"	"50"	"1535"	"0"	"1535"	"0"	"c.1535G>A"	"r.(?)"	"p.(Arg512His)"	""
"0000309526"	"00025650"	"10"	"2460"	"0"	"2460"	"0"	"c.2460C>G"	"r.(?)"	"p.(Gly820=)"	""
"0000309526"	"00021906"	"10"	"2394"	"0"	"2394"	"0"	"c.2394C>G"	"r.(?)"	"p.(Gly798=)"	""
"0000309526"	"00025545"	"10"	"2511"	"0"	"2511"	"0"	"c.2511C>G"	"r.(?)"	"p.(Gly837=)"	""
"0000309527"	"00025650"	"50"	"2699"	"0"	"2699"	"0"	"c.2699A>G"	"r.(?)"	"p.(Glu900Gly)"	""
"0000309527"	"00021906"	"50"	"2633"	"0"	"2633"	"0"	"c.2633A>G"	"r.(?)"	"p.(Glu878Gly)"	""
"0000309527"	"00025545"	"50"	"2750"	"0"	"2750"	"0"	"c.2750A>G"	"r.(?)"	"p.(Glu917Gly)"	""
"0000309529"	"00025650"	"30"	"3549"	"0"	"3549"	"0"	"c.3549G>C"	"r.(?)"	"p.(Gln1183His)"	""
"0000309529"	"00021906"	"30"	"3483"	"0"	"3483"	"0"	"c.3483G>C"	"r.(?)"	"p.(Gln1161His)"	""
"0000309529"	"00025545"	"30"	"3600"	"0"	"3600"	"0"	"c.3600G>C"	"r.(?)"	"p.(Gln1200His)"	""
"0000309530"	"00025650"	"10"	"3980"	"0"	"3980"	"0"	"c.3980G>A"	"r.(?)"	"p.(Arg1327His)"	""
"0000309530"	"00021906"	"10"	"3914"	"0"	"3914"	"0"	"c.3914G>A"	"r.(?)"	"p.(Arg1305His)"	""
"0000309530"	"00025545"	"10"	"4031"	"0"	"4031"	"0"	"c.4031G>A"	"r.(?)"	"p.(Arg1344His)"	""
"0000309531"	"00025650"	"10"	"4007"	"0"	"4007"	"0"	"c.4007C>T"	"r.(?)"	"p.(Thr1336Met)"	""
"0000309531"	"00021906"	"10"	"3941"	"0"	"3941"	"0"	"c.3941C>T"	"r.(?)"	"p.(Thr1314Met)"	""
"0000309531"	"00025545"	"10"	"4058"	"0"	"4058"	"0"	"c.4058C>T"	"r.(?)"	"p.(Thr1353Met)"	""
"0000309532"	"00025650"	"10"	"4330"	"0"	"4330"	"0"	"c.4330C>G"	"r.(?)"	"p.(Arg1444Gly)"	""
"0000309532"	"00021906"	"10"	"4264"	"0"	"4264"	"0"	"c.4264C>G"	"r.(?)"	"p.(Arg1422Gly)"	""
"0000309532"	"00025545"	"10"	"4381"	"0"	"4381"	"0"	"c.4381C>G"	"r.(?)"	"p.(Arg1461Gly)"	""
"0000309533"	"00025650"	"10"	"4452"	"0"	"4452"	"0"	"c.4452G>C"	"r.(?)"	"p.(Thr1484=)"	""
"0000309533"	"00021906"	"10"	"4386"	"0"	"4386"	"0"	"c.4386G>C"	"r.(?)"	"p.(Thr1462=)"	""
"0000309533"	"00025545"	"10"	"4503"	"0"	"4503"	"0"	"c.4503G>C"	"r.(?)"	"p.(Thr1501=)"	""
"0000309534"	"00025650"	"50"	"4645"	"0"	"4645"	"0"	"c.4645G>C"	"r.(?)"	"p.(Asp1549His)"	""
"0000309534"	"00021906"	"50"	"4579"	"0"	"4579"	"0"	"c.4579G>C"	"r.(?)"	"p.(Asp1527His)"	""
"0000309534"	"00025545"	"50"	"4696"	"0"	"4696"	"0"	"c.4696G>C"	"r.(?)"	"p.(Asp1566His)"	""
"0000309535"	"00025650"	"50"	"484"	"0"	"484"	"0"	"c.484G>A"	"r.(?)"	"p.(Val162Ile)"	""
"0000309535"	"00021906"	"50"	"418"	"0"	"418"	"0"	"c.418G>A"	"r.(?)"	"p.(Val140Ile)"	""
"0000309535"	"00025545"	"50"	"535"	"0"	"535"	"0"	"c.535G>A"	"r.(?)"	"p.(Val179Ile)"	""
"0000309536"	"00025650"	"10"	"507"	"0"	"507"	"0"	"c.507C>T"	"r.(?)"	"p.(His169=)"	""
"0000309536"	"00021906"	"10"	"441"	"0"	"441"	"0"	"c.441C>T"	"r.(?)"	"p.(His147=)"	""
"0000309536"	"00025545"	"10"	"558"	"0"	"558"	"0"	"c.558C>T"	"r.(?)"	"p.(His186=)"	""
"0000309537"	"00025650"	"10"	"600"	"0"	"600"	"0"	"c.600A>G"	"r.(?)"	"p.(Glu200=)"	""
"0000309537"	"00021906"	"10"	"534"	"0"	"534"	"0"	"c.534A>G"	"r.(?)"	"p.(Glu178=)"	""
"0000309537"	"00025545"	"10"	"651"	"0"	"651"	"0"	"c.651A>G"	"r.(?)"	"p.(Glu217=)"	""
"0000309538"	"00025650"	"10"	"790"	"20"	"790"	"20"	"c.790+20C>T"	"r.(=)"	"p.(=)"	""
"0000309538"	"00021906"	"10"	"724"	"20"	"724"	"20"	"c.724+20C>T"	"r.(=)"	"p.(=)"	""
"0000309538"	"00025545"	"10"	"841"	"20"	"841"	"20"	"c.841+20C>T"	"r.(=)"	"p.(=)"	""
"0000317127"	"00025650"	"50"	"2149"	"0"	"2149"	"0"	"c.2149G>A"	"r.(?)"	"p.(Ala717Thr)"	""
"0000317127"	"00021906"	"50"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Ala695Thr)"	""
"0000317127"	"00025545"	"50"	"2200"	"0"	"2200"	"0"	"c.2200G>A"	"r.(?)"	"p.(Ala734Thr)"	""
"0000317128"	"00025650"	"50"	"2149"	"0"	"2149"	"0"	"c.2149G>C"	"r.(?)"	"p.(Ala717Pro)"	""
"0000317128"	"00021906"	"50"	"2083"	"0"	"2083"	"0"	"c.2083G>C"	"r.(?)"	"p.(Ala695Pro)"	""
"0000317128"	"00025545"	"50"	"2200"	"0"	"2200"	"0"	"c.2200G>C"	"r.(?)"	"p.(Ala734Pro)"	""
"0000317129"	"00025650"	"50"	"2485"	"0"	"2485"	"0"	"c.2485G>A"	"r.(?)"	"p.(Glu829Lys)"	""
"0000317129"	"00021906"	"50"	"2419"	"0"	"2419"	"0"	"c.2419G>A"	"r.(?)"	"p.(Glu807Lys)"	""
"0000317129"	"00025545"	"50"	"2536"	"0"	"2536"	"0"	"c.2536G>A"	"r.(?)"	"p.(Glu846Lys)"	""
"0000317130"	"00025650"	"50"	"2603"	"0"	"2603"	"0"	"c.2603A>C"	"r.(?)"	"p.(Asn868Thr)"	""
"0000317130"	"00021906"	"50"	"2537"	"0"	"2537"	"0"	"c.2537A>C"	"r.(?)"	"p.(Asn846Thr)"	""
"0000317130"	"00025545"	"50"	"2654"	"0"	"2654"	"0"	"c.2654A>C"	"r.(?)"	"p.(Asn885Thr)"	""
"0000317131"	"00025650"	"50"	"2677"	"0"	"2677"	"0"	"c.2677C>G"	"r.(?)"	"p.(Leu893Val)"	""
"0000317131"	"00021906"	"50"	"2611"	"0"	"2611"	"0"	"c.2611C>G"	"r.(?)"	"p.(Leu871Val)"	""
"0000317131"	"00025545"	"50"	"2728"	"0"	"2728"	"0"	"c.2728C>G"	"r.(?)"	"p.(Leu910Val)"	""
"0000317132"	"00025650"	"50"	"2714"	"0"	"2714"	"0"	"c.2714A>G"	"r.(?)"	"p.(Glu905Gly)"	""
"0000317132"	"00021906"	"50"	"2648"	"0"	"2648"	"0"	"c.2648A>G"	"r.(?)"	"p.(Glu883Gly)"	""
"0000317132"	"00025545"	"50"	"2765"	"0"	"2765"	"0"	"c.2765A>G"	"r.(?)"	"p.(Glu922Gly)"	""
"0000317133"	"00025650"	"30"	"-59360"	"0"	"-59360"	"0"	"c.-59360C>T"	"r.(?)"	"p.(=)"	""
"0000317133"	"00021906"	"30"	"-59340"	"0"	"-59340"	"0"	"c.-59340C>T"	"r.(?)"	"p.(=)"	""
"0000317133"	"00025545"	"30"	"27"	"0"	"27"	"0"	"c.27C>T"	"r.(?)"	"p.(Leu9=)"	""
"0000317134"	"00025650"	"10"	"279"	"86"	"279"	"86"	"c.279+86G>C"	"r.(=)"	"p.(=)"	""
"0000317134"	"00021906"	"10"	"213"	"86"	"213"	"86"	"c.213+86G>C"	"r.(=)"	"p.(=)"	""
"0000317134"	"00025545"	"10"	"330"	"86"	"330"	"86"	"c.330+86G>C"	"r.(=)"	"p.(=)"	""
"0000317135"	"00025650"	"50"	"3148"	"0"	"3148"	"0"	"c.3148C>T"	"r.(?)"	"p.(Pro1050Ser)"	""
"0000317135"	"00021906"	"50"	"3082"	"0"	"3082"	"0"	"c.3082C>T"	"r.(?)"	"p.(Pro1028Ser)"	""
"0000317135"	"00025545"	"50"	"3199"	"0"	"3199"	"0"	"c.3199C>T"	"r.(?)"	"p.(Pro1067Ser)"	""
"0000317136"	"00025650"	"50"	"3629"	"5"	"3629"	"5"	"c.3629+5G>T"	"r.spl?"	"p.?"	""
"0000317136"	"00021906"	"50"	"3563"	"5"	"3563"	"5"	"c.3563+5G>T"	"r.spl?"	"p.?"	""
"0000317136"	"00025545"	"50"	"3680"	"5"	"3680"	"5"	"c.3680+5G>T"	"r.spl?"	"p.?"	""
"0000317137"	"00025650"	"50"	"3727"	"0"	"3727"	"0"	"c.3727G>A"	"r.(?)"	"p.(Glu1243Lys)"	""
"0000317137"	"00021906"	"50"	"3661"	"0"	"3661"	"0"	"c.3661G>A"	"r.(?)"	"p.(Glu1221Lys)"	""
"0000317137"	"00025545"	"50"	"3778"	"0"	"3778"	"0"	"c.3778G>A"	"r.(?)"	"p.(Glu1260Lys)"	""
"0000317138"	"00025650"	"30"	"3741"	"0"	"3741"	"0"	"c.3741C>T"	"r.(?)"	"p.(Asn1247=)"	""
"0000317138"	"00021906"	"30"	"3675"	"0"	"3675"	"0"	"c.3675C>T"	"r.(?)"	"p.(Asn1225=)"	""
"0000317138"	"00025545"	"30"	"3792"	"0"	"3792"	"0"	"c.3792C>T"	"r.(?)"	"p.(Asn1264=)"	""
"0000317139"	"00025650"	"30"	"4452"	"0"	"4452"	"0"	"c.4452G>C"	"r.(?)"	"p.(Thr1484=)"	""
"0000317139"	"00021906"	"30"	"4386"	"0"	"4386"	"0"	"c.4386G>C"	"r.(?)"	"p.(Thr1462=)"	""
"0000317139"	"00025545"	"30"	"4503"	"0"	"4503"	"0"	"c.4503G>C"	"r.(?)"	"p.(Thr1501=)"	""
"0000317140"	"00025650"	"30"	"4616"	"0"	"4616"	"0"	"c.4616G>A"	"r.(?)"	"p.(Arg1539Gln)"	""
"0000317140"	"00021906"	"30"	"4550"	"0"	"4550"	"0"	"c.4550G>A"	"r.(?)"	"p.(Arg1517Gln)"	""
"0000317140"	"00025545"	"30"	"4667"	"0"	"4667"	"0"	"c.4667G>A"	"r.(?)"	"p.(Arg1556Gln)"	""
"0000317141"	"00025650"	"30"	"4744"	"0"	"4744"	"0"	"c.4744G>A"	"r.(?)"	"p.(Val1582Met)"	""
"0000317141"	"00021906"	"30"	"4678"	"0"	"4678"	"0"	"c.4678G>A"	"r.(?)"	"p.(Val1560Met)"	""
"0000317141"	"00025545"	"30"	"4795"	"0"	"4795"	"0"	"c.4795G>A"	"r.(?)"	"p.(Val1599Met)"	""
"0000317142"	"00025650"	"30"	"615"	"0"	"615"	"0"	"c.615G>A"	"r.(?)"	"p.(Lys205=)"	""
"0000317142"	"00021906"	"30"	"549"	"0"	"549"	"0"	"c.549G>A"	"r.(?)"	"p.(Lys183=)"	""
"0000317142"	"00025545"	"30"	"666"	"0"	"666"	"0"	"c.666G>A"	"r.(?)"	"p.(Lys222=)"	""
"0000340708"	"00025650"	"10"	"2406"	"0"	"2406"	"0"	"c.2406T>C"	"r.(?)"	"p.(Asn802=)"	""
"0000340708"	"00021906"	"10"	"2340"	"0"	"2340"	"0"	"c.2340T>C"	"r.(?)"	"p.(Asn780=)"	""
"0000340708"	"00025545"	"10"	"2457"	"0"	"2457"	"0"	"c.2457T>C"	"r.(?)"	"p.(Asn819=)"	""
"0000341654"	"00025650"	"90"	"3064"	"0"	"3064"	"0"	"c.3064C>T"	"r.(?)"	"p.(Arg1022Ter)"	""
"0000341654"	"00021906"	"90"	"2998"	"0"	"2998"	"0"	"c.2998C>T"	"r.(?)"	"p.(Arg1000Ter)"	""
"0000341654"	"00025545"	"90"	"3115"	"0"	"3115"	"0"	"c.3115C>T"	"r.(?)"	"p.(Arg1039Ter)"	""
"0000347694"	"00025650"	"10"	"68"	"0"	"68"	"0"	"c.68T>C"	"r.(?)"	"p.(Met23Thr)"	""
"0000347694"	"00021906"	"10"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	""
"0000347694"	"00025545"	"10"	"119"	"0"	"119"	"0"	"c.119T>C"	"r.(?)"	"p.(Met40Thr)"	""
"0000348944"	"00025650"	"10"	"161"	"0"	"161"	"0"	"c.161G>A"	"r.(?)"	"p.(Ser54Asn)"	""
"0000348944"	"00021906"	"10"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(Ser32Asn)"	""
"0000348944"	"00025545"	"10"	"212"	"0"	"212"	"0"	"c.212G>A"	"r.(?)"	"p.(Ser71Asn)"	""
"0000358340"	"00021906"	"90"	"2629"	"0"	"2629"	"0"	"c.2629C>T"	"r.(?)"	"p.(Arg877*)"	"20"
"0000358341"	"00021906"	"90"	"2684"	"0"	"2684"	"0"	"c.2684G>A"	"r.(?)"	"p.(Trp895*)"	"20"
"0000358342"	"00021906"	"90"	"-63"	"-1"	"899"	"1"	"c.(-64+1_-63-1)_(899+1_900-1)del"	"r.?"	"p.?"	"1i_7i"
"0000358343"	"00021906"	"90"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294*)"	"7"
"0000472275"	"00021906"	"50"	"3228"	"0"	"3233"	"0"	"c.3228_3233delinsTAAAATCAATTA"	"r.(?)"	"p.(Asn1077_Thr1078delinsLysIleAsnTyr)"	""
"0000553888"	"00025650"	"50"	"4645"	"0"	"4645"	"0"	"c.4645G>C"	"r.(?)"	"p.(Asp1549His)"	""
"0000553888"	"00021906"	"50"	"4579"	"0"	"4579"	"0"	"c.4579G>C"	"r.(?)"	"p.(Asp1527His)"	""
"0000553888"	"00025545"	"50"	"4696"	"0"	"4696"	"0"	"c.4696G>C"	"r.(?)"	"p.(Asp1566His)"	""
"0000553889"	"00025650"	"30"	"4502"	"0"	"4502"	"0"	"c.4502G>A"	"r.(?)"	"p.(Arg1501His)"	""
"0000553889"	"00021906"	"30"	"4436"	"0"	"4436"	"0"	"c.4436G>A"	"r.(?)"	"p.(Arg1479His)"	""
"0000553889"	"00025545"	"30"	"4553"	"0"	"4553"	"0"	"c.4553G>A"	"r.(?)"	"p.(Arg1518His)"	""
"0000553890"	"00025650"	"30"	"4502"	"0"	"4502"	"0"	"c.4502G>A"	"r.(?)"	"p.(Arg1501His)"	""
"0000553890"	"00021906"	"30"	"4436"	"0"	"4436"	"0"	"c.4436G>A"	"r.(?)"	"p.(Arg1479His)"	""
"0000553890"	"00025545"	"30"	"4553"	"0"	"4553"	"0"	"c.4553G>A"	"r.(?)"	"p.(Arg1518His)"	""
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"0000553897"	"00021906"	"10"	"3872"	"0"	"3872"	"0"	"c.3872C>T"	"r.(?)"	"p.(Thr1291Met)"	""
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"0000553902"	"00021906"	"50"	"3536"	"0"	"3536"	"0"	"c.3536A>G"	"r.(?)"	"p.(Asp1179Gly)"	""
"0000553902"	"00025545"	"50"	"3653"	"0"	"3653"	"0"	"c.3653A>G"	"r.(?)"	"p.(Asp1218Gly)"	""
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"0000553915"	"00025545"	"10"	"2367"	"12"	"2367"	"12"	"c.2367+12G>A"	"r.(=)"	"p.(=)"	""
"0000553916"	"00025650"	"50"	"2316"	"5"	"2316"	"5"	"c.2316+5G>A"	"r.spl?"	"p.?"	""
"0000553916"	"00021906"	"50"	"2250"	"5"	"2250"	"5"	"c.2250+5G>A"	"r.spl?"	"p.?"	""
"0000553916"	"00025545"	"50"	"2367"	"5"	"2367"	"5"	"c.2367+5G>A"	"r.spl?"	"p.?"	""
"0000553917"	"00025650"	"50"	"2008"	"0"	"2008"	"0"	"c.2008C>T"	"r.(?)"	"p.(Leu670Phe)"	""
"0000553917"	"00021906"	"50"	"1942"	"0"	"1942"	"0"	"c.1942C>T"	"r.(?)"	"p.(Leu648Phe)"	""
"0000553917"	"00025545"	"50"	"2059"	"0"	"2059"	"0"	"c.2059C>T"	"r.(?)"	"p.(Leu687Phe)"	""
"0000553919"	"00025650"	"30"	"1795"	"-8"	"1795"	"-8"	"c.1795-8C>G"	"r.(=)"	"p.(=)"	""
"0000553919"	"00021906"	"30"	"1729"	"-8"	"1729"	"-8"	"c.1729-8C>G"	"r.(=)"	"p.(=)"	""
"0000553919"	"00025545"	"30"	"1846"	"-8"	"1846"	"-8"	"c.1846-8C>G"	"r.(=)"	"p.(=)"	""
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"0000553920"	"00021906"	"10"	"1698"	"20"	"1698"	"20"	"c.1698+20T>C"	"r.(=)"	"p.(=)"	""
"0000553920"	"00025545"	"10"	"1815"	"20"	"1815"	"20"	"c.1815+20T>C"	"r.(=)"	"p.(=)"	""
"0000553921"	"00025650"	"30"	"1764"	"9"	"1764"	"9"	"c.1764+9C>G"	"r.(=)"	"p.(=)"	""
"0000553921"	"00021906"	"30"	"1698"	"9"	"1698"	"9"	"c.1698+9C>G"	"r.(=)"	"p.(=)"	""
"0000553921"	"00025545"	"30"	"1815"	"9"	"1815"	"9"	"c.1815+9C>G"	"r.(=)"	"p.(=)"	""
"0000553922"	"00025650"	"30"	"1573"	"-10"	"1573"	"-10"	"c.1573-10T>C"	"r.(=)"	"p.(=)"	""
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"0000553927"	"00025545"	"30"	"1213"	"6"	"1213"	"6"	"c.1213+6C>A"	"r.(=)"	"p.(=)"	""
"0000553928"	"00025650"	"10"	"1089"	"18"	"1089"	"18"	"c.1089+18A>G"	"r.(=)"	"p.(=)"	""
"0000553928"	"00021906"	"10"	"1023"	"18"	"1023"	"18"	"c.1023+18A>G"	"r.(=)"	"p.(=)"	""
"0000553928"	"00025545"	"10"	"1140"	"18"	"1140"	"18"	"c.1140+18A>G"	"r.(=)"	"p.(=)"	""
"0000553929"	"00025650"	"30"	"924"	"0"	"924"	"0"	"c.924G>A"	"r.(?)"	"p.(Ser308=)"	""
"0000553929"	"00021906"	"30"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Ser286=)"	""
"0000553929"	"00025545"	"30"	"975"	"0"	"975"	"0"	"c.975G>A"	"r.(?)"	"p.(Ser325=)"	""
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"0000553931"	"00025545"	"10"	"837"	"0"	"837"	"0"	"c.837C>T"	"r.(?)"	"p.(Asn279=)"	""
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"0000553932"	"00021906"	"50"	"552"	"19"	"552"	"19"	"c.552+19A>G"	"r.(=)"	"p.(=)"	""
"0000553932"	"00025545"	"50"	"669"	"19"	"669"	"19"	"c.669+19A>G"	"r.(=)"	"p.(=)"	""
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"0000553934"	"00025545"	"50"	"602"	"0"	"602"	"0"	"c.602G>A"	"r.(?)"	"p.(Arg201Gln)"	""
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"0000553935"	"00021906"	"30"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	""
"0000553935"	"00025545"	"30"	"587"	"0"	"587"	"0"	"c.587C>T"	"r.(?)"	"p.(Ser196Phe)"	""
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"0000553937"	"00021906"	"50"	"213"	"147"	"213"	"147"	"c.213+147T>G"	"r.(=)"	"p.(=)"	""
"0000553937"	"00025545"	"50"	"330"	"147"	"330"	"147"	"c.330+147T>G"	"r.(=)"	"p.(=)"	""
"0000553939"	"00025650"	"10"	"84"	"-16"	"84"	"-15"	"c.84-16_84-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG"	"r.(=)"	"p.(=)"	""
"0000553939"	"00021906"	"10"	"18"	"-16"	"18"	"-15"	"c.18-16_18-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG"	"r.(=)"	"p.(=)"	""
"0000553939"	"00025545"	"10"	"135"	"-16"	"135"	"-15"	"c.135-16_135-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG"	"r.(=)"	"p.(=)"	""
"0000553940"	"00025650"	"50"	"-59352"	"0"	"-59352"	"0"	"c.-59352C>T"	"r.(?)"	"p.(=)"	""
"0000553940"	"00021906"	"50"	"-59332"	"0"	"-59332"	"0"	"c.-59332C>T"	"r.(?)"	"p.(=)"	""
"0000553940"	"00025545"	"50"	"35"	"0"	"35"	"0"	"c.35C>T"	"r.(?)"	"p.(Ser12Phe)"	""
"0000553941"	"00025650"	"10"	"-59360"	"0"	"-59360"	"0"	"c.-59360C>T"	"r.(?)"	"p.(=)"	""
"0000553941"	"00021906"	"10"	"-59340"	"0"	"-59340"	"0"	"c.-59340C>T"	"r.(?)"	"p.(=)"	""
"0000553941"	"00025545"	"10"	"27"	"0"	"27"	"0"	"c.27C>T"	"r.(?)"	"p.(Leu9=)"	""
"0000553942"	"00025650"	"30"	"-59362"	"0"	"-59362"	"0"	"c.-59362C>T"	"r.(?)"	"p.(=)"	""
"0000553942"	"00021906"	"30"	"-59342"	"0"	"-59342"	"0"	"c.-59342C>T"	"r.(?)"	"p.(=)"	""
"0000553942"	"00025545"	"30"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Leu9Phe)"	""
"0000615220"	"00025650"	"50"	"4499"	"0"	"4499"	"0"	"c.4499C>T"	"r.(?)"	"p.(Thr1500Met)"	""
"0000615220"	"00021906"	"50"	"4433"	"0"	"4433"	"0"	"c.4433C>T"	"r.(?)"	"p.(Thr1478Met)"	""
"0000615220"	"00025545"	"50"	"4550"	"0"	"4550"	"0"	"c.4550C>T"	"r.(?)"	"p.(Thr1517Met)"	""
"0000615221"	"00025650"	"30"	"3777"	"0"	"3777"	"0"	"c.3777C>T"	"r.(?)"	"p.(Ile1259=)"	""
"0000615221"	"00021906"	"30"	"3711"	"0"	"3711"	"0"	"c.3711C>T"	"r.(?)"	"p.(Ile1237=)"	""
"0000615221"	"00025545"	"30"	"3828"	"0"	"3828"	"0"	"c.3828C>T"	"r.(?)"	"p.(Ile1276=)"	""
"0000615222"	"00025650"	"30"	"3252"	"0"	"3252"	"0"	"c.3252C>T"	"r.(?)"	"p.(Val1084=)"	""
"0000615222"	"00021906"	"30"	"3186"	"0"	"3186"	"0"	"c.3186C>T"	"r.(?)"	"p.(Val1062=)"	""
"0000615222"	"00025545"	"30"	"3303"	"0"	"3303"	"0"	"c.3303C>T"	"r.(?)"	"p.(Val1101=)"	""
"0000615223"	"00025650"	"50"	"2192"	"0"	"2192"	"0"	"c.2192C>T"	"r.(?)"	"p.(Ser731Leu)"	""
"0000615223"	"00021906"	"50"	"2126"	"0"	"2126"	"0"	"c.2126C>T"	"r.(?)"	"p.(Ser709Leu)"	""
"0000615223"	"00025545"	"50"	"2243"	"0"	"2243"	"0"	"c.2243C>T"	"r.(?)"	"p.(Ser748Leu)"	""
"0000615224"	"00025650"	"50"	"536"	"0"	"536"	"0"	"c.536C>T"	"r.(?)"	"p.(Ser179Phe)"	""
"0000615224"	"00021906"	"50"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	""
"0000615224"	"00025545"	"50"	"587"	"0"	"587"	"0"	"c.587C>T"	"r.(?)"	"p.(Ser196Phe)"	""
"0000623204"	"00025650"	"30"	"2460"	"0"	"2460"	"0"	"c.2460C>G"	"r.(?)"	"p.(Gly820=)"	""
"0000623204"	"00021906"	"30"	"2394"	"0"	"2394"	"0"	"c.2394C>G"	"r.(?)"	"p.(Gly798=)"	""
"0000623204"	"00025545"	"30"	"2511"	"0"	"2511"	"0"	"c.2511C>G"	"r.(?)"	"p.(Gly837=)"	""
"0000623205"	"00025650"	"90"	"1966"	"0"	"1966"	"0"	"c.1966C>T"	"r.(?)"	"p.(Arg656Ter)"	""
"0000623205"	"00021906"	"90"	"1900"	"0"	"1900"	"0"	"c.1900C>T"	"r.(?)"	"p.(Arg634Ter)"	""
"0000623205"	"00025545"	"90"	"2017"	"0"	"2017"	"0"	"c.2017C>T"	"r.(?)"	"p.(Arg673Ter)"	""
"0000623206"	"00025650"	"30"	"1795"	"-8"	"1795"	"-8"	"c.1795-8C>G"	"r.(=)"	"p.(=)"	""
"0000623206"	"00021906"	"30"	"1729"	"-8"	"1729"	"-8"	"c.1729-8C>G"	"r.(=)"	"p.(=)"	""
"0000623206"	"00025545"	"30"	"1846"	"-8"	"1846"	"-8"	"c.1846-8C>G"	"r.(=)"	"p.(=)"	""
"0000649025"	"00025650"	"50"	"4744"	"0"	"4744"	"0"	"c.4744G>A"	"r.(?)"	"p.(Val1582Met)"	""
"0000649025"	"00021906"	"50"	"4678"	"0"	"4678"	"0"	"c.4678G>A"	"r.(?)"	"p.(Val1560Met)"	""
"0000649025"	"00025545"	"50"	"4795"	"0"	"4795"	"0"	"c.4795G>A"	"r.(?)"	"p.(Val1599Met)"	""
"0000649026"	"00025650"	"50"	"3549"	"0"	"3549"	"0"	"c.3549G>C"	"r.(?)"	"p.(Gln1183His)"	""
"0000649026"	"00021906"	"50"	"3483"	"0"	"3483"	"0"	"c.3483G>C"	"r.(?)"	"p.(Gln1161His)"	""
"0000649026"	"00025545"	"50"	"3600"	"0"	"3600"	"0"	"c.3600G>C"	"r.(?)"	"p.(Gln1200His)"	""
"0000649027"	"00025650"	"30"	"2149"	"0"	"2149"	"0"	"c.2149G>C"	"r.(?)"	"p.(Ala717Pro)"	""
"0000649027"	"00021906"	"30"	"2083"	"0"	"2083"	"0"	"c.2083G>C"	"r.(?)"	"p.(Ala695Pro)"	""
"0000649027"	"00025545"	"30"	"2200"	"0"	"2200"	"0"	"c.2200G>C"	"r.(?)"	"p.(Ala734Pro)"	""
"0000649028"	"00025650"	"70"	"1936"	"0"	"1936"	"0"	"c.1936C>T"	"r.(?)"	"p.(Arg646Cys)"	""
"0000649028"	"00021906"	"70"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	""
"0000649028"	"00025545"	"70"	"1987"	"0"	"1987"	"0"	"c.1987C>T"	"r.(?)"	"p.(Arg663Cys)"	""
"0000649029"	"00025650"	"30"	"1879"	"0"	"1879"	"0"	"c.1879G>A"	"r.(?)"	"p.(Val627Met)"	""
"0000649029"	"00021906"	"30"	"1813"	"0"	"1813"	"0"	"c.1813G>A"	"r.(?)"	"p.(Val605Met)"	""
"0000649029"	"00025545"	"30"	"1930"	"0"	"1930"	"0"	"c.1930G>A"	"r.(?)"	"p.(Val644Met)"	""
"0000649030"	"00025650"	"50"	"536"	"0"	"536"	"0"	"c.536C>T"	"r.(?)"	"p.(Ser179Phe)"	""
"0000649030"	"00021906"	"50"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	""
"0000649030"	"00025545"	"50"	"587"	"0"	"587"	"0"	"c.587C>T"	"r.(?)"	"p.(Ser196Phe)"	""
"0000657549"	"00025650"	"30"	"3907"	"0"	"3907"	"0"	"c.3907G>A"	"r.(?)"	"p.(Glu1303Lys)"	""
"0000657549"	"00021906"	"30"	"3841"	"0"	"3841"	"0"	"c.3841G>A"	"r.(?)"	"p.(Glu1281Lys)"	""
"0000657549"	"00025545"	"30"	"3958"	"0"	"3958"	"0"	"c.3958G>A"	"r.(?)"	"p.(Glu1320Lys)"	""
"0000663595"	"00021906"	"50"	"3841"	"0"	"3841"	"0"	"c.3841G>A"	"r.(?)"	"p.(Glu1281Lys)"	""
"0000680139"	"00025650"	"30"	"4110"	"0"	"4110"	"0"	"c.4110C>T"	"r.(?)"	"p.(Asn1370=)"	""
"0000680139"	"00021906"	"30"	"4044"	"0"	"4044"	"0"	"c.4044C>T"	"r.(?)"	"p.(Asn1348=)"	""
"0000680139"	"00025545"	"30"	"4161"	"0"	"4161"	"0"	"c.4161C>T"	"r.(?)"	"p.(Asn1387=)"	""
"0000680140"	"00025650"	"50"	"3495"	"0"	"3495"	"0"	"c.3495G>A"	"r.(?)"	"p.(Leu1165=)"	""
"0000680140"	"00021906"	"50"	"3429"	"0"	"3429"	"0"	"c.3429G>A"	"r.(?)"	"p.(Leu1143=)"	""
"0000680140"	"00025545"	"50"	"3546"	"0"	"3546"	"0"	"c.3546G>A"	"r.(?)"	"p.(Leu1182=)"	""
"0000680141"	"00025650"	"90"	"1089"	"1"	"1089"	"1"	"c.1089+1G>A"	"r.spl?"	"p.?"	""
"0000680141"	"00021906"	"90"	"1023"	"1"	"1023"	"1"	"c.1023+1G>A"	"r.spl?"	"p.?"	""
"0000680141"	"00025545"	"90"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.spl?"	"p.?"	""
"0000680142"	"00025650"	"30"	"144"	"0"	"144"	"0"	"c.144C>A"	"r.(?)"	"p.(Ser48Arg)"	""
"0000680142"	"00021906"	"30"	"78"	"0"	"78"	"0"	"c.78C>A"	"r.(?)"	"p.(Ser26Arg)"	""
"0000680142"	"00025545"	"30"	"195"	"0"	"195"	"0"	"c.195C>A"	"r.(?)"	"p.(Ser65Arg)"	""
"0000684694"	"00021906"	"90"	"3794"	"0"	"3794"	"0"	"c.3794del"	"r.(?)"	"p.(Asn1265Ilefs*42)"	""
"0000684721"	"00021906"	"90"	"3280"	"0"	"3280"	"0"	"c.3280C>T"	"r.(?)"	"p.(Arg1094*)"	""
"0000685489"	"00021906"	"90"	"2629"	"0"	"2629"	"0"	"c.2629C>T"	"r.(?)"	"p.(Arg877*)"	""
"0000685490"	"00021906"	"90"	"2567"	"0"	"2567"	"0"	"c.2567G>A"	"r.(?)"	"p.(Trp856*)"	""
"0000685491"	"00021906"	"70"	"1197"	"0"	"1197"	"0"	"c.1197G>A"	"r.spl"	"p.?"	""
"0000685492"	"00021906"	"90"	"-82"	"0"	"899"	"0"	"c.-82_899del"	"r.?"	"p.?"	""
"0000685493"	"00021906"	"90"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294*)"	""
"0000691769"	"00025650"	"50"	"1898"	"0"	"1898"	"0"	"c.1898C>A"	"r.(?)"	"p.(Pro633His)"	""
"0000691769"	"00021906"	"50"	"1832"	"0"	"1832"	"0"	"c.1832C>A"	"r.(?)"	"p.(Pro611His)"	""
"0000691769"	"00025545"	"50"	"1949"	"0"	"1949"	"0"	"c.1949C>A"	"r.(?)"	"p.(Pro650His)"	""
"0000691770"	"00025650"	"30"	"1089"	"0"	"1089"	"0"	"c.1089C>T"	"r.(?)"	"p.(Leu363=)"	""
"0000691770"	"00021906"	"30"	"1023"	"0"	"1023"	"0"	"c.1023C>T"	"r.(?)"	"p.(Leu341=)"	""
"0000691770"	"00025545"	"30"	"1140"	"0"	"1140"	"0"	"c.1140C>T"	"r.(?)"	"p.(Leu380=)"	""
"0000691771"	"00025650"	"50"	"551"	"0"	"551"	"0"	"c.551G>A"	"r.(?)"	"p.(Arg184Gln)"	""
"0000691771"	"00021906"	"50"	"485"	"0"	"485"	"0"	"c.485G>A"	"r.(?)"	"p.(Arg162Gln)"	""
"0000691771"	"00025545"	"50"	"602"	"0"	"602"	"0"	"c.602G>A"	"r.(?)"	"p.(Arg201Gln)"	""
"0000699711"	"00021906"	"70"	"3841"	"0"	"3841"	"0"	"c.3841G>A"	"r.(?)"	"p.(Glu1281Lys)"	""
"0000699711"	"00025545"	"70"	"3958"	"0"	"3958"	"0"	"c.3958G>A"	"r.(?)"	"p.(Glu1320Lys)"	""
"0000699712"	"00021906"	"70"	"1789"	"0"	"1789"	"0"	"c.1789G>T"	"r.(?)"	"p.(Asp597Tyr)"	""
"0000699712"	"00025545"	"70"	"1906"	"0"	"1906"	"0"	"c.1906G>T"	"r.(?)"	"p.(Asp636Tyr)"	""
"0000712649"	"00021906"	"70"	"3841"	"0"	"3841"	"0"	"c.3841G>A"	"r.(?)"	"p.(Glu1281Lys)"	""
"0000712649"	"00025545"	"70"	"3958"	"0"	"3958"	"0"	"c.3958G>A"	"r.(?)"	"p.(Glu1320Lys)"	""
"0000713302"	"00025650"	"90"	"832"	"0"	"832"	"0"	"c.832G>A"	"r.(?)"	"p.(Gly278Arg)"	""
"0000713302"	"00021906"	"90"	"766"	"0"	"766"	"0"	"c.766G>A"	"r.(?)"	"p.(Gly256Arg)"	""
"0000713302"	"00025545"	"90"	"883"	"0"	"883"	"0"	"c.883G>A"	"r.(?)"	"p.(Gly295Arg)"	""
"0000713374"	"00025650"	"90"	"3155"	"0"	"3155"	"0"	"c.3155G>A"	"r.(?)"	"p.(Cys1052Tyr)"	""
"0000713374"	"00021906"	"90"	"3089"	"0"	"3089"	"0"	"c.3089G>A"	"r.(?)"	"p.(Cys1030Tyr)"	""
"0000713374"	"00025545"	"90"	"3206"	"0"	"3206"	"0"	"c.3206G>A"	"r.(?)"	"p.(Cys1069Tyr)"	""
"0000713382"	"00025650"	"90"	"618"	"3"	"618"	"6"	"c.618+3_618+6del"	"r.spl?"	"p.?"	""
"0000713382"	"00021906"	"90"	"552"	"3"	"552"	"6"	"c.552+3_552+6del"	"r.spl?"	"p.?"	""
"0000713382"	"00025545"	"90"	"669"	"3"	"669"	"6"	"c.669+3_669+6del"	"r.spl?"	"p.?"	""
"0000713507"	"00025650"	"90"	"3174"	"0"	"3174"	"0"	"c.3174T>A"	"r.(?)"	"p.(Asp1058Glu)"	""
"0000713507"	"00021906"	"90"	"3108"	"0"	"3108"	"0"	"c.3108T>A"	"r.(?)"	"p.(Asp1036Glu)"	""
"0000713507"	"00025545"	"90"	"3225"	"0"	"3225"	"0"	"c.3225T>A"	"r.(?)"	"p.(Asp1075Glu)"	""
"0000713610"	"00025650"	"90"	"3213"	"0"	"3214"	"0"	"c.3213_3214insT"	"r.(?)"	"p.(Trp1072Leufs*32)"	""
"0000713610"	"00021906"	"90"	"3147"	"0"	"3148"	"0"	"c.3147_3148insT"	"r.(?)"	"p.(Trp1050Leufs*32)"	""
"0000713610"	"00025545"	"90"	"3264"	"0"	"3265"	"0"	"c.3264_3265insT"	"r.(?)"	"p.(Trp1089Leufs*32)"	""
"0000713705"	"00025650"	"90"	"380"	"0"	"380"	"0"	"c.380G>A"	"r.(?)"	"p.(Gly127Glu)"	""
"0000713705"	"00021906"	"90"	"314"	"0"	"314"	"0"	"c.314G>A"	"r.(?)"	"p.(Gly105Glu)"	""
"0000713705"	"00025545"	"90"	"431"	"0"	"431"	"0"	"c.431G>A"	"r.(?)"	"p.(Gly144Glu)"	""
"0000713813"	"00025650"	"90"	"3070"	"0"	"3070"	"0"	"c.3070A>T"	"r.(?)"	"p.(Ile1024Phe)"	""
"0000713813"	"00021906"	"90"	"3004"	"0"	"3004"	"0"	"c.3004A>T"	"r.(?)"	"p.(Ile1002Phe)"	""
"0000713813"	"00025545"	"90"	"3121"	"0"	"3121"	"0"	"c.3121A>T"	"r.(?)"	"p.(Ile1041Phe)"	""
"0000713979"	"00021906"	"70"	"2890"	"0"	"2898"	"0"	"c.2890_2898del"	"r.(?)"	"p.(Ile964_Met966del)"	""
"0000714052"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000714053"	"00021906"	"70"	"2694"	"0"	"2694"	"0"	"c.2694C>G"	"r.(?)"	"p.(Tyr898*)"	""
"0000714054"	"00021906"	"70"	"707"	"0"	"707"	"0"	"c.707T>C"	"r.(?)"	"p.(Leu236Pro)"	""
"0000714075"	"00021906"	"70"	""	"0"	""	"0"	"c.-133_*761{0}"	"r.?"	"p.?"	""
"0000714098"	"00021906"	"70"	"2782"	"0"	"2782"	"0"	"c.2782C>T"	"r.(?)"	"p.(Arg928Trp)"	""
"0000714105"	"00021906"	"70"	"2951"	"0"	"2951"	"0"	"c.2951G>A"	"r.(?)"	"p.(Arg984His)"	""
"0000725030"	"00025650"	"50"	"4173"	"0"	"4176"	"0"	"c.4173_4176del"	"r.(?)"	"p.(Asp1392Leufs*11)"	""
"0000725030"	"00021906"	"50"	"4107"	"0"	"4110"	"0"	"c.4107_4110del"	"r.(?)"	"p.(Asp1370Leufs*11)"	""
"0000725030"	"00025545"	"50"	"4224"	"0"	"4227"	"0"	"c.4224_4227del"	"r.(?)"	"p.(Asp1409Leufs*11)"	""
"0000725031"	"00025650"	"30"	"3549"	"0"	"3549"	"0"	"c.3549G>C"	"r.(?)"	"p.(Gln1183His)"	""
"0000725031"	"00021906"	"30"	"3483"	"0"	"3483"	"0"	"c.3483G>C"	"r.(?)"	"p.(Gln1161His)"	""
"0000725031"	"00025545"	"30"	"3600"	"0"	"3600"	"0"	"c.3600G>C"	"r.(?)"	"p.(Gln1200His)"	""
"0000725032"	"00025650"	"50"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.(?)"	"p.(Gly1070Ser)"	""
"0000725032"	"00021906"	"50"	"3142"	"0"	"3142"	"0"	"c.3142G>A"	"r.(?)"	"p.(Gly1048Ser)"	""
"0000725032"	"00025545"	"50"	"3259"	"0"	"3259"	"0"	"c.3259G>A"	"r.(?)"	"p.(Gly1087Ser)"	""
"0000725033"	"00025650"	"90"	"3064"	"0"	"3064"	"0"	"c.3064C>T"	"r.(?)"	"p.(Arg1022Ter)"	""
"0000725033"	"00021906"	"90"	"2998"	"0"	"2998"	"0"	"c.2998C>T"	"r.(?)"	"p.(Arg1000Ter)"	""
"0000725033"	"00025545"	"90"	"3115"	"0"	"3115"	"0"	"c.3115C>T"	"r.(?)"	"p.(Arg1039Ter)"	""
"0000725034"	"00025650"	"90"	"1713"	"0"	"1713"	"0"	"c.1713C>A"	"r.(?)"	"p.(Tyr571*)"	""
"0000725034"	"00021906"	"90"	"1647"	"0"	"1647"	"0"	"c.1647C>A"	"r.(?)"	"p.(Tyr549*)"	""
"0000725034"	"00025545"	"90"	"1764"	"0"	"1764"	"0"	"c.1764C>A"	"r.(?)"	"p.(Tyr588*)"	""
"0000725035"	"00025650"	"30"	"1671"	"0"	"1671"	"0"	"c.1671C>T"	"r.(?)"	"p.(Leu557=)"	""
"0000725035"	"00021906"	"30"	"1605"	"0"	"1605"	"0"	"c.1605C>T"	"r.(?)"	"p.(Leu535=)"	""
"0000725035"	"00025545"	"30"	"1722"	"0"	"1722"	"0"	"c.1722C>T"	"r.(?)"	"p.(Leu574=)"	""
"0000725036"	"00025650"	"50"	"1285"	"0"	"1285"	"0"	"c.1285C>A"	"r.(?)"	"p.(Pro429Thr)"	""
"0000725036"	"00021906"	"50"	"1219"	"0"	"1219"	"0"	"c.1219C>A"	"r.(?)"	"p.(Pro407Thr)"	""
"0000725036"	"00025545"	"50"	"1336"	"0"	"1336"	"0"	"c.1336C>A"	"r.(?)"	"p.(Pro446Thr)"	""
"0000725037"	"00025650"	"50"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000725037"	"00021906"	"50"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000725037"	"00025545"	"50"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000725038"	"00025650"	"50"	"62"	"0"	"62"	"0"	"c.62C>T"	"r.(?)"	"p.(Pro21Leu)"	""
"0000725038"	"00021906"	"50"	"-5"	"0"	"-5"	"0"	"c.-5C>T"	"r.(?)"	"p.(=)"	""
"0000725038"	"00025545"	"50"	"113"	"0"	"113"	"0"	"c.113C>T"	"r.(?)"	"p.(Pro38Leu)"	""
"0000725039"	"00025650"	"50"	"40"	"0"	"40"	"0"	"c.40C>T"	"r.(?)"	"p.(Arg14Trp)"	""
"0000725039"	"00021906"	"50"	"-27"	"0"	"-27"	"0"	"c.-27C>T"	"r.(?)"	"p.(=)"	""
"0000725039"	"00025545"	"50"	"91"	"0"	"91"	"0"	"c.91C>T"	"r.(?)"	"p.(Arg31Trp)"	""
"0000731551"	"00021906"	"50"	"3483"	"0"	"3483"	"0"	"c.3483G>C"	"r.(?)"	"p.(Gln1161His)"	""
"0000731571"	"00021906"	"50"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	""
"0000732503"	"00021906"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000732504"	"00021906"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000732571"	"00021906"	"50"	"1197"	"0"	"1197"	"0"	"c.1197G>A"	"r.(?)"	"p.(Pro399=)"	""
"0000732572"	"00021906"	"90"	"2947"	"0"	"2948"	"0"	"c.2947_2948delinsAT"	"r.(?)"	"p.(Ala983Ile)"	""
"0000732578"	"00021906"	"90"	"1192"	"0"	"1192"	"0"	"c.1192T>C"	"r.(?)"	"p.(Trp398Arg)"	""
"0000732594"	"00021906"	"50"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000732595"	"00021906"	"70"	"3125"	"0"	"3125"	"0"	"c.3125T>G"	"r.(?)"	"p.(Leu1042Arg)"	""
"0000732601"	"00021906"	"30"	"3914"	"0"	"3914"	"0"	"c.3914G>A"	"r.(?)"	"p.(Arg1305His)"	""
"0000733227"	"00021906"	"70"	"1406"	"0"	"1406"	"0"	"c.1406T>C"	"r.(?)"	"p.(Leu469Ser)"	""
"0000733228"	"00021906"	"70"	"54"	"0"	"71"	"0"	"c.54_71del"	"r.(?)"	"p.(Leu20_Pro25del)"	""
"0000733645"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000733646"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000760082"	"00025650"	"50"	"460"	"0"	"460"	"0"	"c.460G>A"	"r.(?)"	"p.(Gly154Arg)"	""
"0000760082"	"00021906"	"50"	"394"	"0"	"394"	"0"	"c.394G>A"	"r.(?)"	"p.(Gly132Arg)"	""
"0000760082"	"00025545"	"50"	"511"	"0"	"511"	"0"	"c.511G>A"	"r.(?)"	"p.(Gly171Arg)"	""
"0000765856"	"00021906"	"70"	"2"	"0"	"3"	"0"	"c.2_3inv"	"r.(?)"	"p.(Met1?)"	""
"0000784614"	"00021906"	"50"	"3736"	"0"	"3736"	"0"	"c.3736C>T"	"r.(?)"	"p.(Arg1246Trp)"	""
"0000784615"	"00021906"	"50"	"3016"	"0"	"3016"	"0"	"c.3016C>T"	"r.(?)"	"p.(Pro1006Ser)"	""
"0000785406"	"00021906"	"90"	"-27"	"0"	"-27"	"0"	"c.-27C>T"	"r.?"	"p.?"	""
"0000785414"	"00021906"	"90"	"2998"	"0"	"2998"	"0"	"c.2998C>T"	"r.(?)"	"p.(Arg1000Ter)"	""
"0000788220"	"00021906"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000788221"	"00021906"	"70"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Cys7Tyr)"	""
"0000788222"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000788223"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000788224"	"00021906"	"70"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	""
"0000788225"	"00021906"	"70"	"664"	"0"	"664"	"0"	"c.664G>A"	"r.(?)"	"p.(Ala222Thr)"	""
"0000788226"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000788227"	"00021906"	"70"	"897"	"0"	"897"	"0"	"c.897C>T"	"r.spl?"	"p.(Gly299=)"	""
"0000788228"	"00021906"	"70"	"1557"	"0"	"1557"	"0"	"c.1557G>T"	"r.(?)"	"p.(Lys519Asn)"	""
"0000788229"	"00021906"	"70"	"1871"	"0"	"1871"	"0"	"c.1871G>A"	"r.(?)"	"p.(Arg624His)"	""
"0000788230"	"00021906"	"70"	"2083"	"0"	"2083"	"0"	"c.2083G>C"	"r.(?)"	"p.(Ala695Pro)"	""
"0000788231"	"00021906"	"70"	"2128"	"0"	"2128"	"0"	"c.2128A>G"	"r.(?)"	"p.(Thr710Ala)"	""
"0000788232"	"00021906"	"70"	"2629"	"0"	"2629"	"0"	"c.2629C>T"	"r.(?)"	"p.(Arg877Ter)"	""
"0000788233"	"00021906"	"70"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Arg928Gln)"	""
"0000788234"	"00021906"	"70"	"2951"	"0"	"2951"	"0"	"c.2951G>A"	"r.(?)"	"p.(Arg984His)"	""
"0000788238"	"00021906"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000788317"	"00021906"	"50"	"4264"	"0"	"4264"	"0"	"c.4264C>G"	"r.(?)"	"p.(Arg1422Gly)"	"27"
"0000788456"	"00021906"	"50"	"379"	"0"	"379"	"0"	"c.379G>T"	"r.(?)"	"p.(Ala127Ser)"	"3"
"0000788471"	"00021906"	"50"	"2587"	"0"	"2587"	"0"	"c.2587A>G"	"r.(?)"	"p.(Ile863Val)"	"20"
"0000790718"	"00021906"	"70"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	""
"0000790719"	"00021906"	"70"	"3326"	"0"	"3326"	"0"	"c.3326dup"	"r.(?)"	"p.(Pro1110ThrfsTer39)"	""
"0000790721"	"00021906"	"70"	"416"	"0"	"416"	"0"	"c.416G>T"	"r.(?)"	"p.(Gly139Val)"	""
"0000790722"	"00021906"	"70"	"398"	"0"	"398"	"0"	"c.398C>A"	"r.(?)"	"p.(Ala133Asp)"	""
"0000790723"	"00021906"	"70"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	""
"0000790724"	"00021906"	"70"	"857"	"0"	"857"	"0"	"c.857C>T"	"r.(?)"	"p.(Ser286Leu)"	""
"0000790726"	"00021906"	"70"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Arg928Gln)"	""
"0000790726"	"00025545"	"70"	"2900"	"0"	"2900"	"0"	"c.2900G>A"	"r.(?)"	"p.(Arg967Gln)"	""
"0000792241"	"00021906"	"90"	"1418"	"0"	"1418"	"0"	"c.1418G>C"	"r.(?)"	"p.(Arg473Pro)"	"12"
"0000792243"	"00021906"	"90"	"1961"	"0"	"1961"	"0"	"c.1961A>C"	"r.(?)"	"p.(His654Pro)"	"16"
"0000792262"	"00021906"	"30"	"3904"	"0"	"3904"	"0"	"c.3904T>C"	"r.(?)"	"p.(Cys1302Arg)"	"27"
"0000792275"	"00021906"	"90"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	"5"
"0000793781"	"00021906"	"70"	"2890"	"0"	"2898"	"0"	"c.2890_2898del"	"r.(?)"	"p.(Ile964_Met966del)"	"22"
"0000794398"	"00021906"	"70"	"428"	"0"	"428"	"0"	"c.428G>A"	"r.(?)"	"p.(Gly143Asp)"	"5"
"0000794399"	"00021906"	"90"	"910"	"0"	"910"	"0"	"c.910G>T"	"r.(?)"	"p.(Glu304*)"	"8"
"0000796299"	"00021906"	"90"	"83"	"0"	"83"	"0"	"c.83del"	"r.(?)"	"p.(Asn28Metfs*62)"	"3"
"0000796300"	"00021906"	"90"	"1600"	"0"	"1600"	"0"	"c.1600G>A"	"r.(?)"	"p.(Gly534Arg)"	"14"
"0000796301"	"00021906"	"90"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74Cys)"	"4"
"0000796302"	"00021906"	"90"	"1091"	"0"	"1091"	"0"	"c.1091T>G"	"r.(?)"	"p.(Leu364Arg)"	"9"
"0000796303"	"00021906"	"90"	"296"	"0"	"296"	"0"	"c.296T>A"	"r.(?)"	"p.(Leu99His)"	"4"
"0000796304"	"00021906"	"90"	"1832"	"0"	"1832"	"0"	"c.1832C>A"	"r.(?)"	"p.(Pro611His)"	"16"
"0000796305"	"00021906"	"90"	"428"	"-1"	"428"	"-1"	"c.428-1G>C"	"r.spl?"	"p.?"	"4i"
"0000796306"	"00021906"	"90"	"1622"	"0"	"1622"	"0"	"c.1622T>A"	"r.(?)"	"p.(Met541Lys)"	"14"
"0000796307"	"00021906"	"90"	"2250"	"1"	"2250"	"1"	"c.2250+1G>A"	"r.spl?"	"p.?"	"17i"
"0000796308"	"00021906"	"90"	"3061"	"1"	"3061"	"1"	"c.3061+1G>A"	"r.spl?"	"p.?"	"22i"
"0000796309"	"00021906"	"90"	"3142"	"0"	"3142"	"0"	"c.3142G>A"	"r.(?)"	"p.(Gly1048Ser)"	"24"
"0000796310"	"00021906"	"90"	"3082"	"2"	"3082"	"2"	"c.3082+2dup"	"r.spl?"	"p.?"	"23i"
"0000796311"	"00021906"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.spl?"	"p.?"	"0"
"0000797670"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000798049"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000798088"	"00021906"	"50"	"470"	"0"	"470"	"0"	"c.470C>T"	"r.(?)"	"p.(Ser157Phe)"	""
"0000798089"	"00021906"	"50"	"1348"	"0"	"1348"	"0"	"c.1348C>T"	"r.(?)"	"p.(Arg450Trp)"	""
"0000806630"	"00025650"	"50"	"3809"	"0"	"3809"	"0"	"c.3809G>T"	"r.(?)"	"p.(Arg1270Leu)"	""
"0000806630"	"00021906"	"50"	"3743"	"0"	"3743"	"0"	"c.3743G>T"	"r.(?)"	"p.(Arg1248Leu)"	""
"0000806630"	"00025545"	"50"	"3860"	"0"	"3860"	"0"	"c.3860G>T"	"r.(?)"	"p.(Arg1287Leu)"	""
"0000806631"	"00025650"	"50"	"3065"	"0"	"3065"	"0"	"c.3065G>A"	"r.(?)"	"p.(Arg1022Gln)"	""
"0000806631"	"00021906"	"50"	"2999"	"0"	"2999"	"0"	"c.2999G>A"	"r.(?)"	"p.(Arg1000Gln)"	""
"0000806631"	"00025545"	"50"	"3116"	"0"	"3116"	"0"	"c.3116G>A"	"r.(?)"	"p.(Arg1039Gln)"	""
"0000806632"	"00025650"	"70"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000806632"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000806632"	"00025545"	"70"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000806633"	"00025650"	"50"	"286"	"0"	"286"	"0"	"c.286C>T"	"r.(?)"	"p.(Arg96Cys)"	""
"0000806633"	"00021906"	"50"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74Cys)"	""
"0000806633"	"00025545"	"50"	"337"	"0"	"337"	"0"	"c.337C>T"	"r.(?)"	"p.(Arg113Cys)"	""
"0000811447"	"00021906"	"70"	"2782"	"0"	"2782"	"0"	"c.2782C>T"	"r.(?)"	"p.(Arg928Trp)"	""
"0000811448"	"00021906"	"70"	"2999"	"0"	"2999"	"0"	"c.2999G>A"	"r.(?)"	"p.(Arg1000Gln)"	""
"0000811449"	"00021906"	"70"	"245"	"0"	"250"	"0"	"c.245_250delinsGTGAAAGAT"	"r.(?)"	"p.(Asp82_Ser83delinsGlyGluArg)"	""
"0000811515"	"00021906"	"90"	"3794"	"0"	"3794"	"0"	"c.3794del"	"r.(?)"	"p.(Asn1265IlefsTer42)"	""
"0000812598"	"00021906"	"90"	"552"	"3"	"552"	"6"	"c.552+3_552+6del"	"r.spl?"	"p.(?)"	""
"0000812599"	"00021906"	"90"	"2280"	"0"	"2280"	"0"	"c.2280dup"	"r.(?)"	"p.(Ile761Hisfs*10)"	""
"0000813895"	"00025650"	"70"	"3017"	"0"	"3017"	"0"	"c.3017G>A"	"r.(?)"	"p.(Arg1006His)"	""
"0000813895"	"00021906"	"70"	"2951"	"0"	"2951"	"0"	"c.2951G>A"	"r.(?)"	"p.(Arg984His)"	""
"0000813895"	"00025545"	"70"	"3068"	"0"	"3068"	"0"	"c.3068G>A"	"r.(?)"	"p.(Arg1023His)"	""
"0000813896"	"00021906"	"70"	"-1"	"0"	"4813"	"0"	"c.(?_-1)_(*1_?)del)"	"r.0"	"p.0"	""
"0000816076"	"00021906"	"70"	"0"	"0"	"0"	"0"	"c.0?"	"r.0?"	"p.(?)"	""
"0000816512"	"00025545"	"50"	"120"	"0"	"120"	"0"	"c.120G>A"	"r.(?)"	"p.(Met40Ile)"	""
"0000817653"	"00025650"	"70"	"2021"	"0"	"2021"	"0"	"c.2021T>C"	"r.(?)"	"p.(Met674Thr)"	""
"0000817653"	"00021906"	"70"	"1955"	"0"	"1955"	"0"	"c.1955T>C"	"r.(?)"	"p.(Met652Thr)"	""
"0000817653"	"00025545"	"70"	"2072"	"0"	"2072"	"0"	"c.2072T>C"	"r.(?)"	"p.(Met691Thr)"	""
"0000817654"	"00025650"	"70"	"2848"	"0"	"2848"	"0"	"c.2848C>T"	"r.(?)"	"p.(Arg950Trp)"	""
"0000817654"	"00021906"	"70"	"2782"	"0"	"2782"	"0"	"c.2782C>T"	"r.(?)"	"p.(Arg928Trp)"	""
"0000817654"	"00025545"	"70"	"2899"	"0"	"2899"	"0"	"c.2899C>T"	"r.(?)"	"p.(Arg967Trp)"	""
"0000817655"	"00025650"	"70"	"494"	"-1"	"494"	"-1"	"c.494-1G>C"	"r.(?)"	"p.(?)"	""
"0000817655"	"00021906"	"70"	"428"	"-1"	"428"	"-1"	"c.428-1G>C"	"r.spl?"	"p.?"	""
"0000817655"	"00025545"	"70"	"545"	"-1"	"545"	"-1"	"c.545-1G>C"	"r.spl?"	"p.?"	""
"0000818927"	"00021906"	"70"	"0"	"0"	"0"	"0"	"c.(?_-63-1)_*761{0}"	"r.0?"	"p.0?"	"_2_27_"
"0000818929"	"00021906"	"70"	"3004"	"0"	"3004"	"0"	"c.3004A>T"	"r.(?)"	"p.(Ile1002Phe)"	"22"
"0000821397"	"00025650"	"70"	"3155"	"0"	"3155"	"0"	"c.3155G>A"	"r.(?)"	"p.(Cys1052Tyr)"	""
"0000821397"	"00021906"	"70"	"3089"	"0"	"3089"	"0"	"c.3089G>A"	"r.(?)"	"p.(Cys1030Tyr)"	""
"0000821397"	"00025545"	"70"	"3206"	"0"	"3206"	"0"	"c.3206G>A"	"r.(?)"	"p.(Cys1069Tyr)"	""
"0000821398"	"00025650"	"70"	"618"	"3"	"618"	"6"	"c.618+3_618+6del"	"r.spl?"	"p.(?)"	""
"0000821398"	"00021906"	"70"	"552"	"1"	"552"	"4"	"c.552+1_552+4del"	"r.spl?"	"p.?"	""
"0000821398"	"00025545"	"70"	"669"	"1"	"669"	"4"	"c.669+1_669+4del"	"r.spl?"	"p.?"	""
"0000821399"	"00025650"	"70"	"3070"	"0"	"3070"	"0"	"c.3070A>T"	"r.(?)"	"p.(Ile1024Phe)"	""
"0000821399"	"00021906"	"70"	"3004"	"0"	"3004"	"0"	"c.3004A>T"	"r.(?)"	"p.(Ile1002Phe)"	""
"0000821399"	"00025545"	"70"	"3121"	"0"	"3121"	"0"	"c.3121A>T"	"r.(?)"	"p.(Ile1041Phe)"	""
"0000821400"	"00025650"	"70"	"3214"	"0"	"3214"	"0"	"c.3214dup"	"r.(?)"	"p.(Trp1072Leufs*32)"	""
"0000821400"	"00021906"	"70"	"3148"	"0"	"3148"	"0"	"c.3148dup"	"r.(?)"	"p.(Trp1050Leufs*32)"	""
"0000821400"	"00025545"	"70"	"3265"	"0"	"3265"	"0"	"c.3265dup"	"r.(?)"	"p.(Trp1089Leufs*32)"	""
"0000821604"	"00025650"	"70"	"3174"	"0"	"3174"	"0"	"c.3174T>A"	"r.(?)"	"p.(Asp1058Glu)"	""
"0000821604"	"00021906"	"70"	"3108"	"0"	"3108"	"0"	"c.3108T>A"	"r.(?)"	"p.(Asp1036Glu)"	""
"0000821604"	"00025545"	"70"	"3225"	"0"	"3225"	"0"	"c.3225T>A"	"r.(?)"	"p.(Asp1075Glu)"	""
"0000822058"	"00025650"	"70"	"3947"	"0"	"3947"	"0"	"c.3947T>G"	"r.(?)"	"p.(Leu1316Arg)"	""
"0000822058"	"00021906"	"70"	"3947"	"0"	"3947"	"0"	"c.3947T>G"	"r.(?)"	"p.(Leu1316Arg)"	""
"0000822058"	"00025545"	"70"	"4064"	"0"	"4064"	"0"	"c.4064T>G"	"r.(?)"	"p.(Leu1355Arg)"	""
"0000823265"	"00025650"	"50"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000823265"	"00021906"	"50"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000823265"	"00025545"	"50"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000823293"	"00025650"	"50"	"3133"	"0"	"3133"	"0"	"c.3133G>A"	"r.(?)"	"p.(Ala1045Thr)"	""
"0000823293"	"00021906"	"50"	"3067"	"0"	"3067"	"0"	"c.3067G>A"	"r.(?)"	"p.(Ala1023Thr)"	""
"0000823293"	"00025545"	"50"	"3184"	"0"	"3184"	"0"	"c.3184G>A"	"r.(?)"	"p.(Ala1062Thr)"	""
"0000825951"	"00021906"	"70"	"910"	"0"	"910"	"0"	"c.910G>T"	"r.(?)"	"p.(Glu304*)"	"8"
"0000825952"	"00021906"	"70"	"428"	"0"	"428"	"0"	"c.428G>A"	"r.(?)"	"p.(Gly143Asp)"	"5"
"0000829699"	"00021906"	"70"	"707"	"0"	"707"	"0"	"c.707T>C"	"r.(?)"	"p.(Leu236Pro)"	""
"0000853970"	"00025650"	"30"	"4308"	"0"	"4308"	"0"	"c.4308C>A"	"r.(?)"	"p.(Pro1436=)"	""
"0000853970"	"00021906"	"30"	"4242"	"0"	"4242"	"0"	"c.4242C>A"	"r.(?)"	"p.(Pro1414=)"	""
"0000853970"	"00025545"	"30"	"4359"	"0"	"4359"	"0"	"c.4359C>A"	"r.(?)"	"p.(Pro1453=)"	""
"0000853971"	"00025650"	"50"	"3900"	"0"	"3900"	"0"	"c.3900C>T"	"r.(?)"	"p.(Asn1300=)"	""
"0000853971"	"00021906"	"50"	"3834"	"0"	"3834"	"0"	"c.3834C>T"	"r.(?)"	"p.(Asn1278=)"	""
"0000853971"	"00025545"	"50"	"3951"	"0"	"3951"	"0"	"c.3951C>T"	"r.(?)"	"p.(Asn1317=)"	""
"0000853972"	"00025650"	"90"	"3469"	"0"	"3469"	"0"	"c.3469dup"	"r.(?)"	"p.(Asp1157Glyfs*14)"	""
"0000853972"	"00021906"	"90"	"3403"	"0"	"3403"	"0"	"c.3403dup"	"r.(?)"	"p.(Asp1135Glyfs*14)"	""
"0000853972"	"00025545"	"90"	"3520"	"0"	"3520"	"0"	"c.3520dup"	"r.(?)"	"p.(Asp1174Glyfs*14)"	""
"0000853973"	"00025650"	"50"	"916"	"0"	"916"	"0"	"c.916C>T"	"r.(?)"	"p.(Arg306Cys)"	""
"0000853973"	"00021906"	"50"	"850"	"0"	"850"	"0"	"c.850C>T"	"r.(?)"	"p.(Arg284Cys)"	""
"0000853973"	"00025545"	"50"	"967"	"0"	"967"	"0"	"c.967C>T"	"r.(?)"	"p.(Arg323Cys)"	""
"0000863787"	"00025650"	"30"	"1632"	"0"	"1632"	"0"	"c.1632T>C"	"r.(?)"	"p.(Leu544=)"	""
"0000863787"	"00021906"	"30"	"1566"	"0"	"1566"	"0"	"c.1566T>C"	"r.(?)"	"p.(Leu522=)"	""
"0000863787"	"00025545"	"30"	"1683"	"0"	"1683"	"0"	"c.1683T>C"	"r.(?)"	"p.(Leu561=)"	""
"0000863788"	"00025650"	"30"	"1447"	"0"	"1447"	"0"	"c.1447T>C"	"r.(?)"	"p.(Leu483=)"	""
"0000863788"	"00021906"	"30"	"1381"	"0"	"1381"	"0"	"c.1381T>C"	"r.(?)"	"p.(Leu461=)"	""
"0000863788"	"00025545"	"30"	"1498"	"0"	"1498"	"0"	"c.1498T>C"	"r.(?)"	"p.(Leu500=)"	""
"0000873266"	"00025650"	"70"	"2087"	"2"	"2087"	"2"	"c.2087+2T>C"	"r.spl?"	"p.?"	""
"0000873266"	"00021906"	"70"	"2021"	"2"	"2021"	"2"	"c.2021+2T>C"	"r.(?)"	"p.?"	""
"0000873266"	"00025545"	"70"	"2138"	"2"	"2138"	"2"	"c.2138+2T>C"	"r.spl?"	"p.?"	""
"0000873267"	"00025650"	"70"	"2087"	"2"	"2087"	"2"	"c.2087+2T>C"	"r.spl?"	"p.?"	""
"0000873267"	"00021906"	"70"	"2021"	"2"	"2021"	"2"	"c.2021+2T>C"	"r.(?)"	"p.?"	""
"0000873267"	"00025545"	"70"	"2138"	"2"	"2138"	"2"	"c.2138+2T>C"	"r.spl?"	"p.?"	""
"0000873268"	"00025650"	"70"	"2087"	"2"	"2087"	"2"	"c.2087+2T>C"	"r.spl?"	"p.?"	""
"0000873268"	"00021906"	"70"	"2021"	"2"	"2021"	"2"	"c.2021+2T>C"	"r.(?)"	"p.?"	""
"0000873268"	"00025545"	"70"	"2138"	"2"	"2138"	"2"	"c.2138+2T>C"	"r.spl?"	"p.?"	""
"0000873269"	"00025650"	"70"	"478"	"0"	"478"	"0"	"c.478del"	"r.(?)"	"p.(Gly161Valfs*10)"	""
"0000873269"	"00021906"	"70"	"412"	"0"	"412"	"0"	"c.412delG"	"r.(?)"	"p.(Gly139Valfs*10)"	""
"0000873269"	"00025545"	"70"	"529"	"0"	"529"	"0"	"c.529del"	"r.(?)"	"p.(Gly178Valfs*10)"	""
"0000873270"	"00025650"	"70"	"286"	"0"	"286"	"0"	"c.286C>T"	"r.(?)"	"p.(Arg96Cys)"	""
"0000873270"	"00021906"	"70"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74Cys)"	""
"0000873270"	"00025545"	"70"	"337"	"0"	"337"	"0"	"c.337C>T"	"r.(?)"	"p.(Arg113Cys)"	""
"0000873271"	"00025650"	"70"	"286"	"0"	"286"	"0"	"c.286C>T"	"r.(?)"	"p.(Arg96Cys)"	""
"0000873271"	"00021906"	"70"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74Cys)"	""
"0000873271"	"00025545"	"70"	"337"	"0"	"337"	"0"	"c.337C>T"	"r.(?)"	"p.(Arg113Cys)"	""
"0000873272"	"00025650"	"70"	"3171"	"0"	"3171"	"0"	"c.3171T>A"	"r.(?)"	"p.(Tyr1057*)"	""
"0000873272"	"00021906"	"70"	"3105"	"0"	"3105"	"0"	"c.3105T>A"	"r.(?)"	"p.(Tyr1035*)"	""
"0000873272"	"00025545"	"70"	"3222"	"0"	"3222"	"0"	"c.3222T>A"	"r.(?)"	"p.(Tyr1074*)"	""
"0000873273"	"00025650"	"70"	"3070"	"0"	"3070"	"0"	"c.3070A>T"	"r.(?)"	"p.(Ile1024Phe)"	""
"0000873273"	"00021906"	"70"	"3004"	"0"	"3004"	"0"	"c.3004A>T"	"r.(?)"	"p.(Ile1002Phe)"	""
"0000873273"	"00025545"	"70"	"3121"	"0"	"3121"	"0"	"c.3121A>T"	"r.(?)"	"p.(Ile1041Phe)"	""
"0000873274"	"00025650"	"70"	"3070"	"0"	"3070"	"0"	"c.3070A>T"	"r.(?)"	"p.(Ile1024Phe)"	""
"0000873274"	"00021906"	"70"	"3004"	"0"	"3004"	"0"	"c.3004A>T"	"r.(?)"	"p.(Ile1002Phe)"	""
"0000873274"	"00025545"	"70"	"3121"	"0"	"3121"	"0"	"c.3121A>T"	"r.(?)"	"p.(Ile1041Phe)"	""
"0000873275"	"00025650"	"70"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873275"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.0"	"p.0"	"_2_7_"
"0000873275"	"00025545"	"70"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873276"	"00025650"	"70"	"145"	"0"	"145"	"0"	"c.145del"	"r.(?)"	"p.(Asn50Metfs*62)"	""
"0000873276"	"00021906"	"70"	"83"	"0"	"83"	"0"	"c.83delA"	"r.(?)"	"p.(Asn28MetfsTer62)"	"3"
"0000873276"	"00025545"	"70"	"196"	"0"	"196"	"0"	"c.196del"	"r.(?)"	"p.(Asn67Metfs*62)"	""
"0000873277"	"00025650"	"70"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000873277"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	"4"
"0000873277"	"00025545"	"70"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000873278"	"00025650"	"70"	"286"	"0"	"286"	"0"	"c.286C>T"	"r.(?)"	"p.(Arg96Cys)"	""
"0000873278"	"00021906"	"70"	"220"	"0"	"220"	"0"	"c.220C>T"	"r.(?)"	"p.(Arg74Cys)"	"4"
"0000873278"	"00025545"	"70"	"337"	"0"	"337"	"0"	"c.337C>T"	"r.(?)"	"p.(Arg113Cys)"	""
"0000873279"	"00025650"	"70"	"3127"	"1"	"3127"	"1"	"c.3127+1G>A"	"r.spl?"	"p.?"	""
"0000873279"	"00021906"	"70"	"3061"	"1"	"3061"	"1"	"c.3061+1G>A"	"r.(?)"	"p.?"	"22"
"0000873279"	"00025545"	"70"	"3178"	"1"	"3178"	"1"	"c.3178+1G>A"	"r.spl?"	"p.?"	""
"0000873280"	"00025650"	"70"	"2316"	"1"	"2316"	"1"	"c.2316+1G>A"	"r.spl?"	"p.?"	""
"0000873280"	"00021906"	"70"	"2250"	"1"	"2250"	"1"	"c.2250+1G>A"	"r.(?)"	"p.?"	"17"
"0000873280"	"00025545"	"70"	"2367"	"1"	"2367"	"1"	"c.2367+1G>A"	"r.spl?"	"p.?"	""
"0000873281"	"00025650"	"70"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Gly556Arg)"	""
"0000873281"	"00021906"	"70"	"1600"	"0"	"1600"	"0"	"c.1600G>A"	"r.(?)"	"p.(Gly534Arg)"	"14"
"0000873281"	"00025545"	"70"	"1717"	"0"	"1717"	"0"	"c.1717G>A"	"r.(?)"	"p.(Gly573Arg)"	""
"0000873282"	"00025650"	"70"	"1898"	"0"	"1898"	"0"	"c.1898C>A"	"r.(?)"	"p.(Pro633His)"	""
"0000873282"	"00021906"	"70"	"1832"	"0"	"1832"	"0"	"c.1832C>A"	"r.(?)"	"p.(Pro611His)"	"16"
"0000873282"	"00025545"	"70"	"1949"	"0"	"1949"	"0"	"c.1949C>A"	"r.(?)"	"p.(Pro650His)"	""
"0000873283"	"00025650"	"70"	"1157"	"0"	"1157"	"0"	"c.1157T>G"	"r.(?)"	"p.(Leu386Arg)"	""
"0000873283"	"00021906"	"70"	"1091"	"0"	"1091"	"0"	"c.1091T>G"	"r.(?)"	"p.(Leu364Arg)"	"9"
"0000873283"	"00025545"	"70"	"1208"	"0"	"1208"	"0"	"c.1208T>G"	"r.(?)"	"p.(Leu403Arg)"	""
"0000873284"	"00025650"	"70"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.(?)"	"p.(Gly1070Ser)"	""
"0000873284"	"00021906"	"70"	"3142"	"0"	"3142"	"0"	"c.3142G>A"	"r.(?)"	"p.(Gly1048Ser)"	"24"
"0000873284"	"00025545"	"70"	"3259"	"0"	"3259"	"0"	"c.3259G>A"	"r.(?)"	"p.(Gly1087Ser)"	""
"0000873341"	"00025650"	"70"	"1484"	"0"	"1484"	"0"	"c.1484G>C"	"r.(?)"	"p.(Arg495Pro)"	""
"0000873341"	"00021906"	"70"	"1418"	"0"	"1418"	"0"	"c.1418G>C"	"r.(?)"	"p.(Arg473Pro)"	"12"
"0000873341"	"00025545"	"70"	"1535"	"0"	"1535"	"0"	"c.1535G>C"	"r.(?)"	"p.(Arg512Pro)"	""
"0000873342"	"00025650"	"70"	"1484"	"0"	"1484"	"0"	"c.1484G>C"	"r.(?)"	"p.(Arg495Pro)"	""
"0000873342"	"00021906"	"70"	"1418"	"0"	"1418"	"0"	"c.1418G>C"	"r.(?)"	"p.(Arg473Pro)"	"12"
"0000873342"	"00025545"	"70"	"1535"	"0"	"1535"	"0"	"c.1535G>C"	"r.(?)"	"p.(Arg512Pro)"	""
"0000873343"	"00025650"	"70"	"97"	"0"	"97"	"0"	"c.97C>T"	"r.(?)"	"p.(Gln33*)"	""
"0000873343"	"00021906"	"70"	"31"	"0"	"31"	"0"	"c.31C>T"	"r.(?)"	"p.(Gln11Ter)"	"3"
"0000873343"	"00025545"	"70"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Gln50*)"	""
"0000873344"	"00025650"	"70"	"2633"	"0"	"2633"	"0"	"c.2633G>A"	"r.(?)"	"p.(Trp878*)"	""
"0000873344"	"00021906"	"70"	"2567"	"0"	"2567"	"0"	"c.2567G>A"	"r.(?)"	"p.(Trp856Ter)"	"20"
"0000873344"	"00025545"	"70"	"2684"	"0"	"2684"	"0"	"c.2684G>A"	"r.(?)"	"p.(Trp895*)"	""
"0000873345"	"00025650"	"70"	"1263"	"0"	"1263"	"0"	"c.1263G>A"	"r.(=)"	"p.(=)"	""
"0000873345"	"00021906"	"70"	"1197"	"0"	"1197"	"0"	"c.1197G>A"	"r.(?)"	"p.(Pro399=)"	"10"
"0000873345"	"00025545"	"70"	"1314"	"0"	"1314"	"0"	"c.1314G>A"	"r.(=)"	"p.(=)"	""
"0000873346"	"00025650"	"70"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000873346"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	"4"
"0000873346"	"00025545"	"70"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000873347"	"00025650"	"70"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000873347"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	"4"
"0000873347"	"00025545"	"70"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000873348"	"00025650"	"70"	"2700"	"1"	"2700"	"1"	"c.2700+1G>A"	"r.spl?"	"p.?"	""
"0000873348"	"00021906"	"70"	"2634"	"1"	"2634"	"1"	"c.2634+1G>A"	"r.spl"	"p.?"	"2i"
"0000873348"	"00025545"	"70"	"2751"	"1"	"2751"	"1"	"c.2751+1G>A"	"r.spl?"	"p.?"	""
"0000873349"	"00025650"	"70"	"40"	"0"	"40"	"0"	"c.40C>T"	"r.(?)"	"p.(Arg14Trp)"	""
"0000873349"	"00021906"	"70"	"1"	"-27"	"1"	"-27"	"c.1-27C>T"	"r.(?)"	"p.?"	"2"
"0000873349"	"00025545"	"70"	"91"	"0"	"91"	"0"	"c.91C>T"	"r.(?)"	"p.(Arg31Trp)"	""
"0000873350"	"00025650"	"50"	"2388"	"0"	"2388"	"0"	"c.2388T>A"	"r.(?)"	"p.(Tyr796*)"	""
"0000873350"	"00021906"	"50"	"2322"	"0"	"2322"	"0"	"c.2322T>A"	"r.(?)"	"p.(Tyr774Ter)"	"18"
"0000873350"	"00025545"	"50"	"2439"	"0"	"2439"	"0"	"c.2439T>A"	"r.(?)"	"p.(Tyr813*)"	""
"0000873351"	"00025650"	"50"	"1688"	"0"	"1688"	"0"	"c.1688T>A"	"r.(?)"	"p.(Met563Lys)"	""
"0000873351"	"00021906"	"50"	"1622"	"0"	"1622"	"0"	"c.1622T>A"	"r.(?)"	"p.(Met541Lys)"	"14"
"0000873351"	"00025545"	"50"	"1739"	"0"	"1739"	"0"	"c.1739T>A"	"r.(?)"	"p.(Met580Lys)"	""
"0000873352"	"00025650"	"70"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000873352"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	"4"
"0000873352"	"00025545"	"70"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000873353"	"00025650"	"70"	"3557"	"0"	"3557"	"0"	"c.3557del"	"r.(?)"	"p.(Gln1186Argfs*31)"	""
"0000873353"	"00021906"	"70"	"3491"	"0"	"3491"	"0"	"c.3491del"	"r.(?)"	"p.(Gln1164ArgfsTer31)"	"26"
"0000873353"	"00025545"	"70"	"3608"	"0"	"3608"	"0"	"c.3608del"	"r.(?)"	"p.(Gln1203Argfs*31)"	""
"0000873354"	"00025650"	"70"	"3160"	"0"	"3160"	"0"	"c.3160G>T"	"r.(?)"	"p.(Glu1054*)"	""
"0000873354"	"00021906"	"70"	"3094"	"0"	"3094"	"0"	"c.3094G>T"	"r.(?)"	"p.(Glu1032Ter)"	"24"
"0000873354"	"00025545"	"70"	"3211"	"0"	"3211"	"0"	"c.3211G>T"	"r.(?)"	"p.(Glu1071*)"	""
"0000873355"	"00025650"	"70"	"494"	"-3"	"494"	"-3"	"c.494-3C>G"	"r.spl?"	"p.?"	""
"0000873355"	"00021906"	"70"	"428"	"-3"	"428"	"-3"	"c.428-3C>G"	"r.spl"	"p.?"	"4i"
"0000873355"	"00025545"	"70"	"545"	"-3"	"545"	"-3"	"c.545-3C>G"	"r.spl?"	"p.?"	""
"0000873356"	"00025650"	"70"	"3900"	"0"	"3900"	"0"	"c.3900C>T"	"r.(=)"	"p.(=)"	""
"0000873356"	"00021906"	"70"	"3834"	"0"	"3834"	"0"	"c.3834C>T"	"r.(?)"	"p.(Asn1278=)"	"27"
"0000873356"	"00025545"	"70"	"3951"	"0"	"3951"	"0"	"c.3951C>T"	"r.(=)"	"p.(=)"	""
"0000873359"	"00025650"	"70"	"84"	"-3"	"84"	"-3"	"c.84-3C>G"	"r.spl?"	"p.?"	""
"0000873359"	"00021906"	"70"	"18"	"-3"	"18"	"-3"	"c.18-3C>G"	"r.(?)"	"p.?"	""
"0000873359"	"00025545"	"70"	"135"	"-3"	"135"	"-3"	"c.135-3C>G"	"r.spl?"	"p.?"	""
"0000873360"	"00025650"	"70"	"1936"	"0"	"1936"	"0"	"c.1936C>T"	"r.(?)"	"p.(Arg646Cys)"	""
"0000873360"	"00021906"	"70"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	""
"0000873360"	"00025545"	"70"	"1987"	"0"	"1987"	"0"	"c.1987C>T"	"r.(?)"	"p.(Arg663Cys)"	""
"0000873361"	"00025650"	"70"	"1089"	"1"	"1089"	"4"	"c.1089+1_1089+4del"	"r.spl?"	"p.?"	""
"0000873361"	"00021906"	"70"	"1023"	"3"	"1023"	"6"	"c.1023+3_1023+6del"	"r.(?)"	"p.?"	""
"0000873361"	"00025545"	"70"	"1140"	"1"	"1140"	"4"	"c.1140+1_1140+4del"	"r.spl?"	"p.?"	""
"0000873362"	"00025650"	"70"	"3290"	"0"	"3290"	"0"	"c.3290T>C"	"r.(?)"	"p.(Phe1097Ser)"	""
"0000873362"	"00021906"	"70"	"3224"	"0"	"3224"	"0"	"c.3224T>C"	"r.(?)"	"p.(Phe1075Ser)"	""
"0000873362"	"00025545"	"70"	"3341"	"0"	"3341"	"0"	"c.3341T>C"	"r.(?)"	"p.(Phe1114Ser)"	""
"0000873363"	"00025650"	"70"	"2711"	"0"	"2711"	"0"	"c.2711C>A"	"r.(?)"	"p.(Ser904*)"	""
"0000873363"	"00021906"	"70"	"2645"	"0"	"2645"	"0"	"c.2645C>A"	"r.(?)"	"p.(Ser882*)"	""
"0000873363"	"00025545"	"70"	"2762"	"0"	"2762"	"0"	"c.2762C>A"	"r.(?)"	"p.(Ser921*)"	""
"0000873364"	"00025650"	"70"	"1936"	"0"	"1936"	"0"	"c.1936C>T"	"r.(?)"	"p.(Arg646Cys)"	""
"0000873364"	"00021906"	"70"	"1870"	"0"	"1870"	"0"	"c.1870C>T"	"r.(?)"	"p.(Arg624Cys)"	""
"0000873364"	"00025545"	"70"	"1987"	"0"	"1987"	"0"	"c.1987C>T"	"r.(?)"	"p.(Arg663Cys)"	""
"0000873658"	"00025650"	"70"	"2460"	"0"	"2460"	"0"	"c.2460del"	"r.(?)"	"p.(Ser821Glnfs*71)"	""
"0000873658"	"00021906"	"70"	"2394"	"0"	"2394"	"0"	"c.2394del"	"r.(?)"	"p.(Ser799Glnfs*71)"	""
"0000873658"	"00025545"	"70"	"2511"	"0"	"2511"	"0"	"c.2511del"	"r.(?)"	"p.(Ser838Glnfs*71)"	""
"0000873659"	"00025650"	"70"	"2460"	"0"	"2460"	"0"	"c.2460del"	"r.(?)"	"p.(Ser821Glnfs*71)"	""
"0000873659"	"00021906"	"70"	"2394"	"0"	"2394"	"0"	"c.2394del"	"r.(?)"	"p.(Ser799Glnfs*71)"	""
"0000873659"	"00025545"	"70"	"2511"	"0"	"2511"	"0"	"c.2511del"	"r.(?)"	"p.(Ser838Glnfs*71)"	""
"0000873704"	"00025650"	"70"	"618"	"1"	"618"	"4"	"c.618+1_618+4del"	"r.spl?"	"p.?"	""
"0000873704"	"00021906"	"70"	"552"	"3"	"552"	"6"	"c.552+3_552+6del"	"r.(?)"	"p.?"	""
"0000873704"	"00025545"	"70"	"669"	"1"	"669"	"4"	"c.669+1_669+4del"	"r.spl?"	"p.?"	""
"0000873705"	"00025650"	"70"	"618"	"1"	"618"	"4"	"c.618+1_618+4del"	"r.spl?"	"p.?"	""
"0000873705"	"00021906"	"70"	"552"	"3"	"552"	"6"	"c.552+3_552+6del"	"r.(?)"	"p.?"	""
"0000873705"	"00025545"	"70"	"669"	"1"	"669"	"4"	"c.669+1_669+4del"	"r.spl?"	"p.?"	""
"0000873706"	"00025650"	"70"	"618"	"1"	"618"	"4"	"c.618+1_618+4del"	"r.spl?"	"p.?"	""
"0000873706"	"00021906"	"70"	"552"	"3"	"552"	"6"	"c.552+3_552+6del"	"r.(?)"	"p.?"	""
"0000873706"	"00025545"	"70"	"669"	"1"	"669"	"4"	"c.669+1_669+4del"	"r.spl?"	"p.?"	""
"0000873707"	"00025650"	"70"	"3211"	"0"	"3211"	"0"	"c.3211G>A"	"r.(?)"	"p.(Ala1071Thr)"	""
"0000873707"	"00021906"	"70"	"3145"	"0"	"3145"	"0"	"c.3145G>A"	"r.(?)"	"p.(Ala1049Thr)"	""
"0000873707"	"00025545"	"70"	"3262"	"0"	"3262"	"0"	"c.3262G>A"	"r.(?)"	"p.(Ala1088Thr)"	""
"0000873708"	"00025650"	"70"	"2543"	"0"	"2543"	"0"	"c.2543C>T"	"r.(?)"	"p.(Ala848Val)"	""
"0000873708"	"00021906"	"70"	"2477"	"0"	"2477"	"0"	"c.2477C>T"	"r.(?)"	"p.(Ala826Val)"	""
"0000873708"	"00025545"	"70"	"2594"	"0"	"2594"	"0"	"c.2594C>T"	"r.(?)"	"p.(Ala865Val)"	""
"0000873709"	"00025650"	"70"	"2543"	"0"	"2543"	"0"	"c.2543C>T"	"r.(?)"	"p.(Ala848Val)"	""
"0000873709"	"00021906"	"70"	"2477"	"0"	"2477"	"0"	"c.2477C>T"	"r.(?)"	"p.(Ala826Val)"	""
"0000873709"	"00025545"	"70"	"2594"	"0"	"2594"	"0"	"c.2594C>T"	"r.(?)"	"p.(Ala865Val)"	""
"0000873710"	"00025650"	"70"	"2543"	"0"	"2543"	"0"	"c.2543C>T"	"r.(?)"	"p.(Ala848Val)"	""
"0000873710"	"00021906"	"70"	"2477"	"0"	"2477"	"0"	"c.2477C>T"	"r.(?)"	"p.(Ala826Val)"	""
"0000873710"	"00025545"	"70"	"2594"	"0"	"2594"	"0"	"c.2594C>T"	"r.(?)"	"p.(Ala865Val)"	""
"0000873711"	"00025650"	"70"	"3199"	"0"	"3199"	"0"	"c.3199T>C"	"r.(?)"	"p.(Cys1067Arg)"	""
"0000873711"	"00021906"	"70"	"3133"	"0"	"3133"	"0"	"c.3133T>C"	"r.(?)"	"p.(Cys1045Arg)"	""
"0000873711"	"00025545"	"70"	"3250"	"0"	"3250"	"0"	"c.3250T>C"	"r.(?)"	"p.(Cys1084Arg)"	""
"0000873728"	"00025650"	"70"	"1089"	"1"	"1089"	"1"	"c.1089+1G>A"	"r.spl?"	"p.?"	""
"0000873728"	"00021906"	"70"	"1023"	"1"	"1023"	"1"	"c.1023+1G>A"	"r.spl"	"p.?"	""
"0000873728"	"00025545"	"70"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.spl?"	"p.?"	""
"0000873729"	"00025650"	"70"	"1089"	"1"	"1089"	"1"	"c.1089+1G>A"	"r.spl?"	"p.?"	""
"0000873729"	"00021906"	"70"	"1023"	"1"	"1023"	"1"	"c.1023+1G>A"	"r.spl"	"p.?"	""
"0000873729"	"00025545"	"70"	"1140"	"1"	"1140"	"1"	"c.1140+1G>A"	"r.spl?"	"p.?"	""
"0000873730"	"00025650"	"70"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000873730"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.spl"	"p.(Tyr72Cys)"	""
"0000873730"	"00025545"	"70"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000873731"	"00025650"	"70"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000873731"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.spl"	"p.(Tyr72Cys)"	""
"0000873731"	"00025545"	"70"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000873732"	"00025650"	"70"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000873732"	"00021906"	"70"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.spl"	"p.(Leu99Pro)"	""
"0000873732"	"00025545"	"70"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000873733"	"00025650"	"70"	"2960"	"0"	"2960"	"0"	"c.2960A>C"	"r.(?)"	"p.(Asp987Ala)"	""
"0000873733"	"00021906"	"70"	"2894"	"0"	"2894"	"0"	"c.2894A>C"	"r.spl"	"p.(Asp965Ala)"	""
"0000873733"	"00025545"	"70"	"3011"	"0"	"3011"	"0"	"c.3011A>C"	"r.(?)"	"p.(Asp1004Ala)"	""
"0000873734"	"00025650"	"70"	"1937"	"0"	"1937"	"0"	"c.1937G>A"	"r.(?)"	"p.(Arg646His)"	""
"0000873734"	"00021906"	"70"	"1871"	"0"	"1871"	"0"	"c.1871G>A"	"r.spl"	"p.(Arg624His)"	""
"0000873734"	"00025545"	"70"	"1988"	"0"	"1988"	"0"	"c.1988G>A"	"r.(?)"	"p.(Arg663His)"	""
"0000873735"	"00025650"	"70"	"1472"	"0"	"1472"	"0"	"c.1472T>C"	"r.(?)"	"p.(Leu491Ser)"	""
"0000873735"	"00021906"	"70"	"1406"	"0"	"1406"	"0"	"c.1406T>C"	"r.spl"	"p.(Leu469Ser)"	""
"0000873735"	"00025545"	"70"	"1523"	"0"	"1523"	"0"	"c.1523T>C"	"r.(?)"	"p.(Leu508Ser)"	""
"0000873736"	"00025650"	"70"	"1472"	"0"	"1472"	"0"	"c.1472T>C"	"r.(?)"	"p.(Leu491Ser)"	""
"0000873736"	"00021906"	"70"	"1406"	"0"	"1406"	"0"	"c.1406T>C"	"r.spl"	"p.(Leu469Ser)"	""
"0000873736"	"00025545"	"70"	"1523"	"0"	"1523"	"0"	"c.1523T>C"	"r.(?)"	"p.(Leu508Ser)"	""
"0000873737"	"00025650"	"70"	"2661"	"0"	"2663"	"0"	"c.2661_2663del"	"r.(?)"	"p.(Ser888del)"	""
"0000873737"	"00021906"	"70"	"2597"	"0"	"2599"	"0"	"c.2597_2599del"	"r.spl"	"p.(Ser866del)"	""
"0000873737"	"00025545"	"70"	"2712"	"0"	"2714"	"0"	"c.2712_2714del"	"r.(?)"	"p.(Ser905del)"	""
"0000873738"	"00021906"	"50"	""	"0"	""	"0"	"deletion of exon 2-7"	"r.(?)"	"p.?"	""
"0000873739"	"00021906"	"70"	"0"	"0"	"0"	"0"	"c.0?"	"r.0"	"p.0"	""
"0000873741"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873741"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873741"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873742"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873742"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873742"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873743"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873743"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873743"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873744"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873744"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873744"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873745"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873745"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873745"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873746"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873746"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873746"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873747"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873747"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873747"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873748"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873748"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873748"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873749"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873749"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873749"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873750"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873750"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873750"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873751"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873751"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873751"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873752"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873752"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873752"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873753"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873753"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873753"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873754"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873754"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873754"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873755"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873755"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873755"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873756"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873756"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873756"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873757"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873757"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873757"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873758"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873758"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873758"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873759"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873759"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873759"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873760"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873760"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873760"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873761"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873761"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873761"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873762"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873762"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873762"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873763"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873763"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873763"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873764"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873764"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873764"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873765"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873765"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873765"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873766"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873766"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873766"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873767"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873767"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873767"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873768"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873768"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873768"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873769"	"00025650"	"90"	"946"	"0"	"946"	"0"	"c.946A>T"	"r.(?)"	"p.(Lys316*)"	""
"0000873769"	"00021906"	"70"	"880"	"0"	"880"	"0"	"c.880A>T"	"r.(?)"	"p.(Lys294Ter)"	""
"0000873769"	"00025545"	"90"	"997"	"0"	"997"	"0"	"c.997A>T"	"r.(?)"	"p.(Lys333*)"	""
"0000873770"	"00025650"	"90"	"2695"	"0"	"2695"	"0"	"c.2695C>T"	"r.(?)"	"p.(Arg899*)"	""
"0000873770"	"00021906"	"70"	"2629"	"0"	"2629"	"0"	"c.2629C>T"	"r.(?)"	"p.(Arg877Ter)"	""
"0000873770"	"00025545"	"90"	"2746"	"0"	"2746"	"0"	"c.2746C>T"	"r.(?)"	"p.(Arg916*)"	""
"0000873771"	"00025650"	"90"	"2695"	"0"	"2695"	"0"	"c.2695C>T"	"r.(?)"	"p.(Arg899*)"	""
"0000873771"	"00021906"	"70"	"2629"	"0"	"2629"	"0"	"c.2629C>T"	"r.(?)"	"p.(Arg877Ter)"	""
"0000873771"	"00025545"	"90"	"2746"	"0"	"2746"	"0"	"c.2746C>T"	"r.(?)"	"p.(Arg916*)"	""
"0000873772"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873772"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873772"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873773"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873773"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873773"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873774"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873774"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873774"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873775"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873775"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873775"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873776"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873776"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873776"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873777"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873777"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873777"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873778"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873778"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873778"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873779"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873779"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873779"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873780"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873780"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873780"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873781"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873781"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873781"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873782"	"00025650"	"90"	"-84"	"2211"	"965"	"116"	"c.-84+2211_965+116del"	"r.?"	"p.?"	""
"0000873782"	"00021906"	"70"	"-64"	"2213"	"899"	"118"	"c.-64+2213_899+118del"	"r.(?)"	"p.?"	""
"0000873782"	"00025545"	"90"	"55"	"-22462"	"1016"	"116"	"c.55-22462_1016+116del"	"r.(?)"	"p.(Gly19Asnfs*4)"	""
"0000873783"	"00025650"	"70"	"963"	"0"	"963"	"0"	"c.963C>T"	"r.(=)"	"p.(=)"	""
"0000873783"	"00021906"	"70"	"897"	"0"	"897"	"0"	"c.897C>T"	"r.(?)"	"p.(Gly299=)"	""
"0000873783"	"00025545"	"70"	"1014"	"0"	"1014"	"0"	"c.1014C>T"	"r.(=)"	"p.(=)"	""
"0000873784"	"00025650"	"70"	"2849"	"0"	"2849"	"0"	"c.2849G>A"	"r.(?)"	"p.(Arg950Gln)"	""
"0000873784"	"00021906"	"70"	"2783"	"0"	"2783"	"0"	"c.2783G>A"	"r.(?)"	"p.(Arg928Gln)"	""
"0000873784"	"00025545"	"70"	"2900"	"0"	"2900"	"0"	"c.2900G>A"	"r.(?)"	"p.(Arg967Gln)"	""
"0000873785"	"00025650"	"50"	"2633"	"0"	"2633"	"0"	"c.2633G>A"	"r.(?)"	"p.(Trp878*)"	""
"0000873785"	"00021906"	"70"	"2567"	"0"	"2567"	"0"	"c.2567G>A"	"r.(?)"	"p.(Trp856Ter)"	""
"0000873785"	"00025545"	"50"	"2684"	"0"	"2684"	"0"	"c.2684G>A"	"r.(?)"	"p.(Trp895*)"	""
"0000873786"	"00025650"	"70"	"1460"	"0"	"1460"	"0"	"c.1460T>A"	"r.(?)"	"p.(Met487Lys)"	""
"0000873786"	"00021906"	"70"	"1394"	"0"	"1394"	"0"	"c.1394T>A"	"r.(?)"	"p.(Met465Lys)"	""
"0000873786"	"00025545"	"70"	"1511"	"0"	"1511"	"0"	"c.1511T>A"	"r.(?)"	"p.(Met504Lys)"	""
"0000873787"	"00025650"	"70"	"1460"	"0"	"1460"	"0"	"c.1460T>A"	"r.(?)"	"p.(Met487Lys)"	""
"0000873787"	"00021906"	"70"	"1394"	"0"	"1394"	"0"	"c.1394T>A"	"r.(?)"	"p.(Met465Lys)"	""
"0000873787"	"00025545"	"70"	"1511"	"0"	"1511"	"0"	"c.1511T>A"	"r.(?)"	"p.(Met504Lys)"	""
"0000874368"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	"4"
"0000874535"	"00021906"	"70"	"3430"	"0"	"3430"	"1"	"c.3430_3430+1del"	"r.spl"	"p.?"	"25"
"0000874542"	"00021906"	"70"	"3082"	"1"	"3082"	"1"	"c.3082+1G>A"	"r.spl"	"p.?"	""
"0000874545"	"00021906"	"70"	"3506"	"0"	"3506"	"0"	"c.3506del"	"r.(?)"	"p.(Glu1169Glyfs*26)"	"26"
"0000874548"	"00021906"	"70"	"1023"	"1"	"1023"	"1"	"c.1023+1G>A"	"r.spl"	"p.?"	"8"
"0000891992"	"00025650"	"50"	"4615"	"0"	"4615"	"0"	"c.4615C>T"	"r.(?)"	"p.(Arg1539*)"	""
"0000891992"	"00021906"	"50"	"4549"	"0"	"4549"	"0"	"c.4549C>T"	"r.(?)"	"p.(Arg1517*)"	""
"0000891992"	"00025545"	"50"	"4666"	"0"	"4666"	"0"	"c.4666C>T"	"r.(?)"	"p.(Arg1556*)"	""
"0000891993"	"00025650"	"30"	"4446"	"0"	"4446"	"0"	"c.4446A>C"	"r.(?)"	"p.(Ser1482=)"	""
"0000891993"	"00021906"	"30"	"4380"	"0"	"4380"	"0"	"c.4380A>C"	"r.(?)"	"p.(Ser1460=)"	""
"0000891993"	"00025545"	"30"	"4497"	"0"	"4497"	"0"	"c.4497A>C"	"r.(?)"	"p.(Ser1499=)"	""
"0000891994"	"00025650"	"30"	"1764"	"9"	"1764"	"9"	"c.1764+9C>G"	"r.(=)"	"p.(=)"	""
"0000891994"	"00021906"	"30"	"1698"	"9"	"1698"	"9"	"c.1698+9C>G"	"r.(=)"	"p.(=)"	""
"0000891994"	"00025545"	"30"	"1815"	"9"	"1815"	"9"	"c.1815+9C>G"	"r.(=)"	"p.(=)"	""
"0000891995"	"00025650"	"30"	"1551"	"0"	"1551"	"0"	"c.1551G>A"	"r.(?)"	"p.(Arg517=)"	""
"0000891995"	"00021906"	"30"	"1485"	"0"	"1485"	"0"	"c.1485G>A"	"r.(?)"	"p.(Arg495=)"	""
"0000891995"	"00025545"	"30"	"1602"	"0"	"1602"	"0"	"c.1602G>A"	"r.(?)"	"p.(Arg534=)"	""
"0000891996"	"00025650"	"30"	"1290"	"0"	"1290"	"0"	"c.1290G>A"	"r.(?)"	"p.(Thr430=)"	""
"0000891996"	"00021906"	"30"	"1224"	"0"	"1224"	"0"	"c.1224G>A"	"r.(?)"	"p.(Thr408=)"	""
"0000891996"	"00025545"	"30"	"1341"	"0"	"1341"	"0"	"c.1341G>A"	"r.(?)"	"p.(Thr447=)"	""
"0000891997"	"00025650"	"30"	"258"	"0"	"258"	"0"	"c.258C>T"	"r.(?)"	"p.(Gly86=)"	""
"0000891997"	"00021906"	"30"	"192"	"0"	"192"	"0"	"c.192C>T"	"r.(?)"	"p.(Gly64=)"	""
"0000891997"	"00025545"	"30"	"309"	"0"	"309"	"0"	"c.309C>T"	"r.(?)"	"p.(Gly103=)"	""
"0000905867"	"00025650"	"50"	"3809"	"0"	"3809"	"0"	"c.3809G>A"	"r.(?)"	"p.(Arg1270Gln)"	""
"0000905867"	"00021906"	"50"	"3743"	"0"	"3743"	"0"	"c.3743G>A"	"r.(?)"	"p.(Arg1248Gln)"	""
"0000905867"	"00025545"	"50"	"3860"	"0"	"3860"	"0"	"c.3860G>A"	"r.(?)"	"p.(Arg1287Gln)"	""
"0000905885"	"00025650"	"90"	"0"	"0"	"0"	"0"	"c.0"	"r.0"	"p.0"	""
"0000905890"	"00025650"	"50"	"1527"	"0"	"1527"	"0"	"c.1527G>C"	"r.(?)"	"p.(Met509Ile)"	""
"0000905890"	"00021906"	"50"	"1461"	"0"	"1461"	"0"	"c.1461G>C"	"r.(?)"	"p.(Met487Ile)"	""
"0000905890"	"00025545"	"50"	"1578"	"0"	"1578"	"0"	"c.1578G>C"	"r.(?)"	"p.(Met526Ile)"	""
"0000905899"	"00025650"	"90"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000905899"	"00021906"	"90"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000905899"	"00025545"	"90"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000905900"	"00025650"	"70"	"3070"	"0"	"3070"	"0"	"c.3070A>T"	"r.(?)"	"p.(Ile1024Phe)"	""
"0000905900"	"00021906"	"70"	"3004"	"0"	"3004"	"0"	"c.3004A>T"	"r.(?)"	"p.(Ile1002Phe)"	""
"0000905900"	"00025545"	"70"	"3121"	"0"	"3121"	"0"	"c.3121A>T"	"r.(?)"	"p.(Ile1041Phe)"	""
"0000905905"	"00025650"	"90"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000905905"	"00021906"	"90"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000905905"	"00025545"	"90"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000905906"	"00025650"	"90"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000905906"	"00021906"	"90"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000905906"	"00025545"	"90"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000905907"	"00025650"	"90"	"362"	"0"	"362"	"0"	"c.362T>C"	"r.(?)"	"p.(Leu121Pro)"	""
"0000905907"	"00021906"	"90"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000905907"	"00025545"	"90"	"413"	"0"	"413"	"0"	"c.413T>C"	"r.(?)"	"p.(Leu138Pro)"	""
"0000905908"	"00025650"	"90"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000905908"	"00021906"	"90"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000905908"	"00025545"	"90"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000905939"	"00025650"	"50"	"448"	"0"	"448"	"0"	"c.448G>T"	"r.(?)"	"p.(Ala150Ser)"	""
"0000905939"	"00021906"	"50"	"382"	"0"	"382"	"0"	"c.382G>T"	"r.(?)"	"p.(Ala128Ser)"	""
"0000905939"	"00025545"	"50"	"499"	"0"	"499"	"0"	"c.499G>T"	"r.(?)"	"p.(Ala167Ser)"	""
"0000916493"	"00021906"	"50"	"40"	"0"	"40"	"0"	"c.40C>T"	"r.(?)"	"p.(Arg14Trp)"	"3"
"0000916494"	"00021906"	"90"	"1966"	"0"	"1966"	"0"	"c.1966C>T"	"r.(?)"	"p.(Arg656*)"	"16"
"0000916661"	"00021906"	"50"	"191"	"0"	"191"	"0"	"c.191G>C"	"r.(?)"	"p.(Trp64Ser)"	"3"
"0000916662"	"00021906"	"50"	"1666"	"0"	"1666"	"0"	"c.1666G>A"	"r.(?)"	"p.(Gly556Arg)"	"14"
"0000925951"	"00025650"	"30"	"3293"	"7"	"3293"	"7"	"c.3293+7G>A"	"r.(=)"	"p.(=)"	""
"0000925951"	"00021906"	"30"	"3227"	"7"	"3227"	"7"	"c.3227+7G>A"	"r.(=)"	"p.(=)"	""
"0000925951"	"00025545"	"30"	"3344"	"7"	"3344"	"7"	"c.3344+7G>A"	"r.(=)"	"p.(=)"	""
"0000925952"	"00025650"	"70"	"3187"	"0"	"3187"	"0"	"c.3187C>T"	"r.(?)"	"p.(Arg1063Trp)"	""
"0000925952"	"00021906"	"70"	"3121"	"0"	"3121"	"0"	"c.3121C>T"	"r.(?)"	"p.(Arg1041Trp)"	""
"0000925952"	"00025545"	"70"	"3238"	"0"	"3238"	"0"	"c.3238C>T"	"r.(?)"	"p.(Arg1080Trp)"	""
"0000925953"	"00025650"	"50"	"1702"	"0"	"1702"	"0"	"c.1702C>T"	"r.(?)"	"p.(Arg568Cys)"	""
"0000925953"	"00021906"	"50"	"1636"	"0"	"1636"	"0"	"c.1636C>T"	"r.(?)"	"p.(Arg546Cys)"	""
"0000925953"	"00025545"	"50"	"1753"	"0"	"1753"	"0"	"c.1753C>T"	"r.(?)"	"p.(Arg585Cys)"	""
"0000950324"	"00025650"	"30"	"4671"	"0"	"4671"	"0"	"c.4671G>A"	"r.(?)"	"p.(=)"	""
"0000950324"	"00021906"	"30"	"4605"	"0"	"4605"	"0"	"c.4605G>A"	"r.(?)"	"p.(=)"	""
"0000950324"	"00025545"	"30"	"4722"	"0"	"4722"	"0"	"c.4722G>A"	"r.(?)"	"p.(=)"	""
"0000950325"	"00025650"	"10"	"1305"	"0"	"1305"	"0"	"c.1305G>A"	"r.(?)"	"p.(=)"	""
"0000950325"	"00021906"	"10"	"1239"	"0"	"1239"	"0"	"c.1239G>A"	"r.(?)"	"p.(=)"	""
"0000950325"	"00025545"	"10"	"1356"	"0"	"1356"	"0"	"c.1356G>A"	"r.(?)"	"p.(=)"	""
"0000950326"	"00025650"	"70"	"281"	"0"	"281"	"0"	"c.281A>G"	"r.(?)"	"p.(Tyr94Cys)"	""
"0000950326"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000950326"	"00025545"	"70"	"332"	"0"	"332"	"0"	"c.332A>G"	"r.(?)"	"p.(Tyr111Cys)"	""
"0000958192"	"00021906"	"70"	"3228"	"0"	"3233"	"0"	"c.3228_3233delinsTAAAATCAATTA"	"r.(?)"	"p.(Asn1077_Thr1078delinsLysIleAsnTyr)"	""
"0000958897"	"00021906"	"70"	"215"	"0"	"215"	"0"	"c.215A>G"	"r.(?)"	"p.(Tyr72Cys)"	""
"0000959015"	"00021906"	"70"	"1916"	"0"	"1916"	"0"	"c.1916del"	"r.(?)"	"p.(Met639ArgfsTer46)"	""
"0000959076"	"00021906"	"50"	"296"	"0"	"296"	"0"	"c.296T>C"	"r.(?)"	"p.(Leu99Pro)"	""
"0000959333"	"00021906"	"50"	"875"	"0"	"875"	"0"	"c.875C>A"	"r.(?)"	"p.(Ala292Glu)"	""
"0000981146"	"00025650"	"30"	"-83"	"-3"	"-83"	"-3"	"c.-83-3T>A"	"r.spl?"	"p.?"	""
"0000981146"	"00021906"	"30"	"-63"	"-4457"	"-63"	"-4457"	"c.-63-4457T>A"	"r.(=)"	"p.(=)"	""
"0000981146"	"00025545"	"30"	"55"	"-4457"	"55"	"-4457"	"c.55-4457T>A"	"r.(=)"	"p.(=)"	""
"0000981147"	"00025650"	"30"	"-83"	"-5"	"-83"	"-5"	"c.-83-5C>G"	"r.spl?"	"p.?"	""
"0000981147"	"00021906"	"30"	"-63"	"-4459"	"-63"	"-4459"	"c.-63-4459C>G"	"r.(=)"	"p.(=)"	""
"0000981147"	"00025545"	"30"	"55"	"-4459"	"55"	"-4459"	"c.55-4459C>G"	"r.(=)"	"p.(=)"	""
"0001001280"	"00025650"	"30"	"3784"	"0"	"3784"	"0"	"c.3784T>G"	"r.(?)"	"p.(Ser1262Ala)"	""
"0001001280"	"00021906"	"30"	"3718"	"0"	"3718"	"0"	"c.3718T>G"	"r.(?)"	"p.(Ser1240Ala)"	""
"0001001280"	"00025545"	"30"	"3835"	"0"	"3835"	"0"	"c.3835T>G"	"r.(?)"	"p.(Ser1279Ala)"	""
"0001001281"	"00025650"	"50"	"2308"	"0"	"2308"	"0"	"c.2308G>A"	"r.(?)"	"p.(Gly770Ser)"	""
"0001001281"	"00021906"	"50"	"2242"	"0"	"2242"	"0"	"c.2242G>A"	"r.(?)"	"p.(Gly748Ser)"	""
"0001001281"	"00025545"	"50"	"2359"	"0"	"2359"	"0"	"c.2359G>A"	"r.(?)"	"p.(Gly787Ser)"	""
"0001040262"	"00025650"	"50"	"3844"	"0"	"3844"	"0"	"c.3844C>T"	"r.(?)"	"p.(Arg1282Trp)"	""
"0001040262"	"00021906"	"50"	"3778"	"0"	"3778"	"0"	"c.3778C>T"	"r.(?)"	"p.(Arg1260Trp)"	""
"0001040262"	"00025545"	"50"	"3895"	"0"	"3895"	"0"	"c.3895C>T"	"r.(?)"	"p.(Arg1299Trp)"	""
"0001040263"	"00025650"	"50"	"3191"	"0"	"3191"	"0"	"c.3191T>G"	"r.(?)"	"p.(Leu1064Arg)"	""
"0001040263"	"00021906"	"50"	"3125"	"0"	"3125"	"0"	"c.3125T>G"	"r.(?)"	"p.(Leu1042Arg)"	""
"0001040263"	"00025545"	"50"	"3242"	"0"	"3242"	"0"	"c.3242T>G"	"r.(?)"	"p.(Leu1081Arg)"	""
"0001040264"	"00025650"	"50"	"2677"	"0"	"2677"	"0"	"c.2677C>G"	"r.(?)"	"p.(Leu893Val)"	""
"0001040264"	"00021906"	"50"	"2611"	"0"	"2611"	"0"	"c.2611C>G"	"r.(?)"	"p.(Leu871Val)"	""
"0001040264"	"00025545"	"50"	"2728"	"0"	"2728"	"0"	"c.2728C>G"	"r.(?)"	"p.(Leu910Val)"	""
"0001040265"	"00025650"	"50"	"2135"	"0"	"2135"	"0"	"c.2135A>C"	"r.(?)"	"p.(His712Pro)"	""
"0001040265"	"00021906"	"50"	"2069"	"0"	"2069"	"0"	"c.2069A>C"	"r.(?)"	"p.(His690Pro)"	""
"0001040265"	"00025545"	"50"	"2186"	"0"	"2186"	"0"	"c.2186A>C"	"r.(?)"	"p.(His729Pro)"	""
"0001047075"	"00025650"	"50"	"2149"	"0"	"2149"	"0"	"c.2149G>C"	"r.(?)"	"p.(Ala717Pro)"	""
"0001047075"	"00021906"	"50"	"2083"	"0"	"2083"	"0"	"c.2083G>C"	"r.(?)"	"p.(Ala695Pro)"	""
"0001047075"	"00025545"	"50"	"2200"	"0"	"2200"	"0"	"c.2200G>C"	"r.(?)"	"p.(Ala734Pro)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 282
"{{screeningid}}"	"{{variantid}}"
"0000033258"	"0000060543"
"0000033258"	"0000060544"
"0000033659"	"0000060545"
"0000033659"	"0000060546"
"0000033660"	"0000060548"
"0000033661"	"0000060550"
"0000033661"	"0000060551"
"0000033662"	"0000060552"
"0000033662"	"0000060553"
"0000033663"	"0000060547"
"0000033663"	"0000060554"
"0000033664"	"0000060556"
"0000050360"	"0000079340"
"0000050404"	"0000079384"
"0000050497"	"0000079477"
"0000144774"	"0000788317"
"0000156418"	"0000358340"
"0000156419"	"0000358341"
"0000156420"	"0000358342"
"0000156421"	"0000358343"
"0000230686"	"0000472275"
"0000292336"	"0000649025"
"0000292337"	"0000649026"
"0000292338"	"0000649027"
"0000292339"	"0000649028"
"0000292340"	"0000649029"
"0000292341"	"0000649030"
"0000300752"	"0000663595"
"0000309821"	"0000684694"
"0000309821"	"0000684721"
"0000310578"	"0000685489"
"0000310579"	"0000685490"
"0000310580"	"0000685491"
"0000310581"	"0000685492"
"0000310582"	"0000685493"
"0000317207"	"0000699711"
"0000317207"	"0000699712"
"0000328674"	"0000712649"
"0000329179"	"0000713302"
"0000329179"	"0000713705"
"0000329251"	"0000713374"
"0000329259"	"0000713382"
"0000329384"	"0000713507"
"0000329384"	"0000713813"
"0000329487"	"0000713610"
"0000329631"	"0000713979"
"0000329695"	"0000714052"
"0000329695"	"0000714098"
"0000329696"	"0000714053"
"0000329697"	"0000714054"
"0000329718"	"0000714075"
"0000329718"	"0000714105"
"0000333761"	"0000731551"
"0000333761"	"0000731571"
"0000334588"	"0000732503"
"0000334588"	"0000732504"
"0000334639"	"0000732571"
"0000334639"	"0000732594"
"0000334640"	"0000732572"
"0000334640"	"0000732595"
"0000334646"	"0000732578"
"0000334646"	"0000732601"
"0000335218"	"0000733227"
"0000335218"	"0000733645"
"0000335219"	"0000733228"
"0000335219"	"0000733646"
"0000360213"	"0000760082"
"0000364914"	"0000765856"
"0000373940"	"0000784614"
"0000373940"	"0000784615"
"0000374614"	"0000785406"
"0000374614"	"0000785414"
"0000376585"	"0000788220"
"0000376586"	"0000788221"
"0000376587"	"0000788222"
"0000376588"	"0000788223"
"0000376589"	"0000788224"
"0000376590"	"0000788225"
"0000376591"	"0000788226"
"0000376592"	"0000788227"
"0000376593"	"0000788228"
"0000376594"	"0000788229"
"0000376595"	"0000788230"
"0000376596"	"0000788231"
"0000376597"	"0000788232"
"0000376598"	"0000788233"
"0000376599"	"0000788234"
"0000376603"	"0000788238"
"0000376623"	"0000788456"
"0000376625"	"0000788471"
"0000378051"	"0000790718"
"0000378052"	"0000790719"
"0000378054"	"0000790721"
"0000378055"	"0000790722"
"0000378056"	"0000790723"
"0000378056"	"0000790726"
"0000378057"	"0000790724"
"0000379145"	"0000792241"
"0000379146"	"0000792243"
"0000379159"	"0000792262"
"0000379162"	"0000792275"
"0000380629"	"0000793781"
"0000381099"	"0000794398"
"0000381099"	"0000794399"
"0000382472"	"0000796299"
"0000382472"	"0000796300"
"0000382473"	"0000796301"
"0000382473"	"0000796302"
"0000382474"	"0000796303"
"0000382474"	"0000796304"
"0000382475"	"0000796305"
"0000382476"	"0000796306"
"0000382477"	"0000796307"
"0000382478"	"0000796308"
"0000382478"	"0000796309"
"0000382479"	"0000796310"
"0000382480"	"0000796311"
"0000383523"	"0000797670"
"0000383793"	"0000798049"
"0000383820"	"0000798088"
"0000383820"	"0000798089"
"0000384686"	"0000811447"
"0000384686"	"0000811448"
"0000384687"	"0000811449"
"0000384747"	"0000811515"
"0000385522"	"0000812598"
"0000385522"	"0000812599"
"0000386399"	"0000813895"
"0000386399"	"0000813896"
"0000387918"	"0000816076"
"0000388055"	"0000816512"
"0000388867"	"0000817653"
"0000388867"	"0000817654"
"0000388868"	"0000817655"
"0000389711"	"0000818927"
"0000389711"	"0000818929"
"0000391647"	"0000821397"
"0000391648"	"0000821398"
"0000391649"	"0000821399"
"0000391649"	"0000821604"
"0000391650"	"0000821400"
"0000391985"	"0000822058"
"0000392830"	"0000823265"
"0000392830"	"0000823293"
"0000394879"	"0000825951"
"0000394879"	"0000825952"
"0000397651"	"0000829699"
"0000415480"	"0000873266"
"0000415481"	"0000873267"
"0000415482"	"0000873268"
"0000415483"	"0000873269"
"0000415483"	"0000873272"
"0000415484"	"0000873270"
"0000415484"	"0000873273"
"0000415485"	"0000873271"
"0000415485"	"0000873274"
"0000415487"	"0000873275"
"0000415488"	"0000873276"
"0000415488"	"0000873281"
"0000415489"	"0000873277"
"0000415489"	"0000873282"
"0000415490"	"0000873278"
"0000415490"	"0000873283"
"0000415491"	"0000873279"
"0000415491"	"0000873284"
"0000415492"	"0000873280"
"0000415542"	"0000873341"
"0000415543"	"0000873342"
"0000415544"	"0000873343"
"0000415544"	"0000873352"
"0000415545"	"0000873344"
"0000415546"	"0000873345"
"0000415546"	"0000873353"
"0000415547"	"0000873346"
"0000415547"	"0000873354"
"0000415548"	"0000873347"
"0000415548"	"0000873355"
"0000415549"	"0000873348"
"0000415549"	"0000873356"
"0000415550"	"0000873349"
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