### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SZT2)
# 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}}"
"SZT2"	"seizure threshold 2 homolog (mouse)"	"1"	"p34.2"	"unknown"	"NC_000001.10"	"UD_132319066432"	""	"https://www.LOVD.nl/KICS1"	""	"1"	"29040"	"23334"	"615463"	"1"	"1"	"1"	"1"	"Alias SZT2.\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/SZT2_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from SZT2 to KICS1</font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2025-01-23 10:39:46"	"00006"	"2025-11-13 13:04:16"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00020680"	"SZT2"	"seizure threshold 2 homolog (mouse)"	"001"	"NM_015284.3"	""	"NP_056099.3"	""	""	""	"-84"	"13895"	"10128"	"43855556"	"43919918"	""	"0000-00-00 00:00:00"	""	""


## 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}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"03961"	"DEE18"	"encephalopathy, developmental and epileptic, type 18"	"AR"	"615476"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2022-12-30 12:37:26"
"05315"	"epilepsy, Rolandic"	"epilepsy, Rolandic"	""	""	""	""	""	"00006"	"2017-08-11 13:02:50"	""	""
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SZT2"	"03961"


## Individuals ## Do not remove or alter this header ##
## Count = 49
"{{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}}"
"00116807"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_107:0/1:CONTROL"
"00116820"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_132:0/1:CONTROL"
"00116826"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_146:0/1:CONTROL"
"00116835"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_161:0/1:CONTROL"
"00116843"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_176:0/1:CONTROL"
"00116847"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_184:0/1:CONTROL"
"00116857"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_203:0/1:CONTROL"
"00116867"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_228:0/1:CONTROL"
"00116882"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_27:0/1:CONTROL"
"00116897"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_298:0/1:CONTROL"
"00116900"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_303:0/1:CONTROL"
"00116941"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_408:0/1:CONTROL"
"00116945"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_418:0/1:CONTROL"
"00116949"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_424:0/1:CONTROL"
"00116969"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_472:0/1:CONTROL"
"00116986"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_505:0/1:CONTROL"
"00117002"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_530:0/1:CONTROL"
"00117013"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_562:0/1:CONTROL"
"00117017"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_567:0/1:CONTROL"
"00117018"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_568:0/1:TYPICAL_RE"
"00117022"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_573:0/1:TYPICAL_RE"
"00117026"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_579:0/1:TYPICAL_RE"
"00117037"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_598:0/1:ATYPICAL_RE"
"00117061"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_637:0/1:TYPICAL_RE"
"00117065"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_651:0/1:TYPICAL_RE"
"00117091"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_710:0/1:TYPICAL_RE"
"00117101"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_730:0/1:TYPICAL_RE"
"00117109"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_746:0/1:TYPICAL_RE"
"00117110"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_747:0/1:TYPICAL_RE"
"00117115"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_756:0/1:TYPICAL_RE"
"00144517"	""	""	""	"1"	""	"01807"	""	""	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00177024"	""	""	""	"1"	""	"02552"	""	""	"M"	"no"	"Switzerland"	""	"0"	""	""	""	"72943"
"00289847"	""	""	""	"41"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289848"	""	""	""	"55"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289849"	""	""	""	"200"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289850"	""	""	""	"30"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304205"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304206"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304207"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00325408"	""	""	""	"1"	""	"00006"	"{PMID:Hong 2020:33333793}"	""	"M"	""	"Taiwan"	""	"0"	""	""	""	"Pat21"
"00380781"	""	""	""	"1"	""	"00000"	"{PMID:Nair 2018:30293248}"	""	"?"	""	"Lebanon"	""	"0"	""	""	""	"?"
"00428280"	""	""	""	"1"	""	"01164"	""	""	"M"	"yes"	"Lebanon"	""	"0"	""	""	""	"210762"
"00438629"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSC0106"
"00438632"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSC0112"
"00443871"	""	""	""	"2"	""	"00006"	"{PMID:Chatron 2020:32282878}"	"3-generation family, affected brother/sister, unaffected heterozygous parents/relatives"	"M"	"yes"	"Algeria"	""	"0"	""	""	""	"FamAPatIII1"
"00443872"	""	""	"00443871"	"1"	""	"00006"	"{PMID:Chatron 2020:32282878}"	"sister"	"F"	"yes"	"Algeria"	""	"0"	""	""	""	"FamAPatIII2"
"00469444"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469445"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469446"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 49
"{{individualid}}"	"{{diseaseid}}"
"00116807"	"00000"
"00116820"	"00000"
"00116826"	"00000"
"00116835"	"00000"
"00116843"	"00000"
"00116847"	"00000"
"00116857"	"00000"
"00116867"	"00000"
"00116882"	"00000"
"00116897"	"00000"
"00116900"	"00000"
"00116941"	"00000"
"00116945"	"00000"
"00116949"	"00000"
"00116969"	"00000"
"00116986"	"00000"
"00117002"	"00000"
"00117013"	"00000"
"00117017"	"00000"
"00117018"	"05315"
"00117022"	"05315"
"00117026"	"05315"
"00117037"	"05315"
"00117061"	"05315"
"00117065"	"05315"
"00117091"	"05315"
"00117101"	"05315"
"00117109"	"05315"
"00117110"	"05315"
"00117115"	"05315"
"00144517"	"00198"
"00177024"	"00344"
"00289847"	"00198"
"00289848"	"00198"
"00289849"	"00198"
"00289850"	"00198"
"00304205"	"00198"
"00304206"	"00198"
"00304207"	"00198"
"00325408"	"00198"
"00380781"	"03961"
"00428280"	"06906"
"00438629"	"06906"
"00438632"	"06906"
"00443871"	"06906"
"00443872"	"06906"
"00469444"	"00198"
"00469445"	"00198"
"00469446"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00344, 03961, 05315, 06906
## Count = 23
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000092283"	"05315"	"00117037"	"02192"	"Unknown"	""	"atypical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092290"	"05315"	"00117018"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092294"	"05315"	"00117022"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092298"	"05315"	"00117026"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092324"	"05315"	"00117061"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092328"	"05315"	"00117065"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092351"	"05315"	"00117091"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092360"	"05315"	"00117101"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092366"	"05315"	"00117109"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092367"	"05315"	"00117110"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000092370"	"05315"	"00117115"	"02192"	"Unknown"	""	"typical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000117257"	"00198"	"00144517"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Seizures (HP:0001250); Macrocephaly (HP:0000256)"	""	""	""	""	""	""	""	""	""	""	""
"0000141836"	"00344"	"00177024"	"02552"	"Familial, autosomal recessive"	""	"HP:0001252\r\nHP:0000337\r\nHP:0400005\r\nHP:0000278\r\nHP:0000331\r\nHP:0002705\r\nHP:0000772\r\nHP:0000768\r\nHP:0008743\r\nHP:0002761\r\nHP:000103"	"00y06m"	""	""	""	""	""	""	""	"Epileptic encephalopathy, early infantile, 18"	""	""
"0000243895"	"00198"	"00325408"	"00006"	"Familial, autosomal recessive"	""	"6m-onset seizures; focal motor sizures; severe hypotonia, gastrostomy"	""	"3y"	""	""	""	""	""	""	""	"developmental epileptic encephalopathy"	""
"0000274634"	"03961"	"00380781"	"00000"	"Familial"	""	"DD; Seizures (Neurological)"	""	""	""	""	""	""	""	""	"Epileptic encephalopathy type 18"	""	""
"0000319212"	"06906"	"00428280"	"01164"	"Unknown"	"02y"	"delayed speech and language development, Global developmental delay"	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328532"	"06906"	"00438629"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000328535"	"06906"	"00438632"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""
"0000333148"	"06906"	"00443871"	"00006"	"Familial, autosomal recessive"	"6y"	"see paper; ..., <6m-epileptic spasms; 3y-generalized tonic-clonic seizures; EEG at onset hypsarrhythmic; drug-resistant epilepsy; axial hypotonia, spasticity, scoliosis; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features; MRI brain 2y6m-normal"	""	""	""	""	""	""	""	""	"DEE89"	"West syndrome"	""
"0000333149"	"06906"	"00443872"	"00006"	"Familial, autosomal recessive"	"2y"	"see paper; ..., 1d--epileptic spasms; 3m-seizure-free; EEG at onset suppression-burst pattern; axial hypotonia, increased muscle tonus limbs, abnormal eye movements; profound intellectual disability; no pes equinovarus; no omphalocele; cleft palate; joint contractures; no dysmorphic facial features"	""	""	""	""	""	""	""	""	"DEE89"	"neonatal developmental and epileptic encephalopathy"	""
"0000354597"	"00198"	"00469444"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000354598"	"00198"	"00469445"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000354599"	"00198"	"00469446"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""


## Screenings ## Do not remove or alter this header ##
## Count = 49
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000117265"	"00117037"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117275"	"00116807"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117288"	"00116820"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117294"	"00116826"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117303"	"00116835"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117311"	"00116843"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117315"	"00116847"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117325"	"00116857"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117335"	"00116867"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117350"	"00116882"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117365"	"00116897"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117368"	"00116900"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117409"	"00116941"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117413"	"00116945"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117417"	"00116949"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117437"	"00116969"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117454"	"00116986"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117470"	"00117002"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117481"	"00117013"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117485"	"00117017"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117501"	"00117018"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117505"	"00117022"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117509"	"00117026"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117535"	"00117061"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117539"	"00117065"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117562"	"00117091"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117571"	"00117101"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117577"	"00117109"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117578"	"00117110"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117581"	"00117115"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000145374"	"00144517"	"0"	"01807"	"01807"	"2017-12-16 16:30:36"	""	""	"SEQ"	"DNA"	""	""
"0000177921"	"00177024"	"1"	"02552"	"02552"	"2018-08-16 17:13:51"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000291015"	"00289847"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291016"	"00289848"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291017"	"00289849"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291018"	"00289850"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305334"	"00304205"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305335"	"00304206"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305336"	"00304207"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000326619"	"00325408"	"1"	"00006"	"00006"	"2021-01-02 12:18:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000381995"	"00380781"	"1"	"00000"	"03840"	"2021-08-23 12:15:23"	""	""	"SEQ-NG-I"	"DNA"	""	"whole exome sequencing"
"0000429691"	"00428280"	"1"	"01164"	"01164"	"2022-12-29 11:53:59"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000440111"	"00438629"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000440114"	"00438632"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000445368"	"00443871"	"1"	"00006"	"00006"	"2023-12-05 10:17:31"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000445369"	"00443872"	"1"	"00006"	"00006"	"2023-12-05 10:17:31"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000471112"	"00469444"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471113"	"00469445"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471114"	"00469446"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000326619"	"SZT2"
"0000429691"	"SZT2"


## 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 = 226
"{{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}}"
"0000188120"	"0"	"50"	"1"	"43890858"	"43890858"	"subst"	"4.06273E-6"	"02192"	"SZT2_000003"	"g.43890858C>G"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43425187C>G"	""	"VUS"	""
"0000188133"	"0"	"50"	"1"	"43908031"	"43908031"	"del"	"0"	"02192"	"SZT2_000018"	"g.43908031del"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"frameshift_deletion"	"Germline"	""	""	"0"	""	""	"g.43442360del"	""	"VUS"	""
"0000188139"	"0"	"50"	"1"	"43896743"	"43896743"	"subst"	"0.00187906"	"02192"	"SZT2_000008"	"g.43896743C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs138762270"	"0"	""	""	"g.43431072C>T"	""	"VUS"	""
"0000188148"	"0"	"50"	"1"	"43891515"	"43891515"	"subst"	"2.03141E-5"	"02192"	"SZT2_000005"	"g.43891515C>T"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43425844C>T"	""	"VUS"	""
"0000188160"	"0"	"50"	"1"	"43911913"	"43911913"	"subst"	"0"	"02192"	"SZT2_000026"	"g.43911913A>G"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43446242A>G"	""	"VUS"	""
"0000188170"	"0"	"50"	"1"	"43900871"	"43900871"	"subst"	"1.62633E-5"	"02192"	"SZT2_000012"	"g.43900871C>T"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"stopgain variant"	"Germline"	""	""	"0"	""	""	"g.43435200C>T"	""	"VUS"	""
"0000188180"	"0"	"50"	"1"	"43908662"	"43908662"	"subst"	"1.21882E-5"	"02192"	"SZT2_000020"	"g.43908662G>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43442991G>A"	""	"VUS"	""
"0000188210"	"0"	"50"	"1"	"43914286"	"43914286"	"del"	"0"	"02192"	"SZT2_000028"	"g.43914286del"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"frameshift_deletion"	"Germline"	""	""	"0"	""	""	"g.43448615del"	""	"VUS"	""
"0000188213"	"0"	"50"	"1"	"43905570"	"43905570"	"subst"	"0"	"02192"	"SZT2_000014"	"g.43905570G>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs371294068"	"0"	""	""	"g.43439899G>A"	""	"VUS"	""
"0000188258"	"0"	"50"	"1"	"43907245"	"43907245"	"subst"	"0.000125935"	"02192"	"SZT2_000016"	"g.43907245C>T"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs139028803"	"0"	""	""	"g.43441574C>T"	""	"VUS"	""
"0000188262"	"0"	"50"	"1"	"43870124"	"43870124"	"subst"	"5.28391E-5"	"02192"	"SZT2_000002"	"g.43870124G>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs375255354"	"0"	""	""	"g.43404453G>A"	""	"VUS"	""
"0000188282"	"0"	"50"	"1"	"43911608"	"43911608"	"subst"	"1.62434E-5"	"02192"	"SZT2_000024"	"g.43911608C>T"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"stopgain variant"	"Germline"	""	""	"0"	""	""	"g.43445937C>T"	""	"VUS"	""
"0000188315"	"0"	"50"	"1"	"43909344"	"43909344"	"subst"	"0.000984292"	"02192"	"SZT2_000021"	"g.43909344C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs139027171"	"0"	""	""	"g.43443673C>T"	""	"VUS"	""
"0000188326"	"0"	"50"	"1"	"43912804"	"43912804"	"subst"	"0"	"02192"	"SZT2_000027"	"g.43912804A>G"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43447133A>G"	""	"VUS"	""
"0000188330"	"0"	"50"	"1"	"43909353"	"43909353"	"subst"	"2.03293E-5"	"02192"	"SZT2_000022"	"g.43909353G>C"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43443682G>C"	""	"VUS"	""
"0000188335"	"0"	"50"	"1"	"43891311"	"43891311"	"subst"	"0.000252172"	"02192"	"SZT2_000004"	"g.43891311G>A"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs143880787"	"0"	""	""	"g.43425640G>A"	""	"VUS"	""
"0000188339"	"0"	"50"	"1"	"43900904"	"43900904"	"subst"	"4.06177E-6"	"02192"	"SZT2_000013"	"g.43900904G>A"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43435233G>A"	""	"VUS"	""
"0000188374"	"0"	"50"	"1"	"43911872"	"43911872"	"subst"	"1.62448E-5"	"02192"	"SZT2_000025"	"g.43911872C>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43446201C>T"	""	"VUS"	""
"0000188422"	"0"	"50"	"1"	"43897463"	"43897463"	"subst"	"7.31E-5"	"02192"	"SZT2_000009"	"g.43897463G>A"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43431792G>A"	""	"VUS"	""
"0000188428"	"0"	"50"	"1"	"43868925"	"43868925"	"subst"	"0"	"02192"	"SZT2_000001"	"g.43868925C>G"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43403254C>G"	""	"VUS"	""
"0000188454"	"0"	"50"	"1"	"43908593"	"43908593"	"subst"	"0.000800201"	"02192"	"SZT2_000019"	"g.43908593G>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs150591561"	"0"	""	""	"g.43442922G>A"	""	"VUS"	""
"0000188457"	"0"	"50"	"1"	"43898013"	"43898013"	"subst"	"0.000512321"	"02192"	"SZT2_000010"	"g.43898013C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs138028425"	"0"	""	""	"g.43432342C>T"	""	"VUS"	""
"0000188462"	"0"	"50"	"1"	"43898013"	"43898013"	"subst"	"0.000512321"	"02192"	"SZT2_000010"	"g.43898013C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs138028425"	"0"	""	""	"g.43432342C>T"	""	"VUS"	""
"0000188479"	"0"	"50"	"1"	"43896743"	"43896743"	"subst"	"0.00187906"	"02192"	"SZT2_000008"	"g.43896743C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs138762270"	"0"	""	""	"g.43431072C>T"	""	"VUS"	""
"0000188497"	"0"	"50"	"1"	"43909344"	"43909344"	"subst"	"0.000984292"	"02192"	"SZT2_000021"	"g.43909344C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs139027171"	"0"	""	""	"g.43443673C>T"	""	"VUS"	""
"0000188512"	"0"	"50"	"1"	"43894126"	"43894126"	"subst"	"1.62513E-5"	"02192"	"SZT2_000007"	"g.43894126C>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43428455C>T"	""	"VUS"	""
"0000188519"	"0"	"50"	"1"	"43898260"	"43898260"	"subst"	"7.74991E-5"	"02192"	"SZT2_000011"	"g.43898260C>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs147748994"	"0"	""	""	"g.43432589C>T"	""	"VUS"	""
"0000188532"	"0"	"50"	"1"	"43909445"	"43909445"	"subst"	"0"	"02192"	"SZT2_000023"	"g.43909445C>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43443774C>T"	""	"VUS"	""
"0000188539"	"0"	"50"	"1"	"43905621"	"43905621"	"subst"	"8.13531E-6"	"02192"	"SZT2_000015"	"g.43905621A>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43439950A>T"	""	"VUS"	""
"0000188542"	"0"	"50"	"1"	"43893968"	"43893968"	"subst"	"8.12143E-5"	"02192"	"SZT2_000006"	"g.43893968C>T"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43428297C>T"	""	"VUS"	""
"0000188546"	"0"	"50"	"1"	"43907952"	"43907952"	"subst"	"1.22397E-5"	"02192"	"SZT2_000017"	"g.43907952G>A"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43442281G>A"	""	"VUS"	""
"0000236487"	"0"	"90"	"1"	"43882274"	"43882274"	"del"	"0"	"01807"	"SZT2_000029"	"g.43882274del"	""	""	""	"841delC"	""	"Unknown"	""	""	"0"	""	""	"g.43416603del"	""	"pathogenic"	""
"0000236488"	"0"	"50"	"1"	"43904696"	"43904696"	"subst"	"2.4377E-5"	"01807"	"SZT2_000030"	"g.43904696C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.43439025C>T"	""	"VUS"	""
"0000251227"	"0"	"10"	"1"	"43904779"	"43904779"	"subst"	"0.000979605"	"02326"	"SZT2_000056"	"g.43904779A>C"	""	""	""	"SZT2(NM_015284.4):c.6621+15A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43439108A>C"	""	"benign"	""
"0000252022"	"0"	"30"	"1"	"43892864"	"43892864"	"subst"	"0.000358155"	"02326"	"SZT2_000043"	"g.43892864A>G"	""	""	""	"SZT2(NM_015284.4):c.3262+14A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43427193A>G"	""	"likely benign"	""
"0000252023"	"0"	"30"	"1"	"43906266"	"43906266"	"subst"	"0.000425504"	"02326"	"SZT2_000061"	"g.43906266A>G"	""	""	""	"SZT2(NM_015284.4):c.7173+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43440595A>G"	""	"likely benign"	""
"0000252024"	"0"	"30"	"1"	"43907930"	"43907930"	"subst"	"0"	"02326"	"SZT2_000066"	"g.43907930A>C"	""	""	""	"SZT2(NM_015284.4):c.7703-9A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43442259A>C"	""	"likely benign"	""
"0000252025"	"0"	"30"	"1"	"43908946"	"43908946"	"subst"	"0.000585014"	"02326"	"SZT2_000069"	"g.43908946A>C"	""	""	""	"SZT2(NM_015284.4):c.8328+8A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43443275A>C"	""	"likely benign"	""
"0000254666"	"0"	"30"	"1"	"43904404"	"43904404"	"subst"	"0.00535411"	"01943"	"SZT2_000054"	"g.43904404A>G"	""	""	""	"SZT2(NM_015284.3):c.6372A>G (p.L2124=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43438733A>G"	""	"likely benign"	""
"0000311685"	"0"	"50"	"1"	"43906214"	"43906214"	"subst"	"0"	"02325"	"SZT2_000060"	"g.43906214C>T"	""	""	""	"SZT2(NM_015284.4):c.7130C>T (p.T2377I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43440543C>T"	""	"VUS"	""
"0000314338"	"0"	"30"	"1"	"43886406"	"43886406"	"subst"	"0.00113885"	"02326"	"SZT2_000035"	"g.43886406C>T"	""	""	""	"SZT2(NM_015284.4):c.1262-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43420735C>T"	""	"likely benign"	""
"0000314339"	"0"	"30"	"1"	"43890441"	"43890441"	"subst"	"0"	"02326"	"SZT2_000039"	"g.43890441T>A"	""	""	""	"SZT2(NM_015284.4):c.2472-14T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43424770T>A"	""	"likely benign"	""
"0000314340"	"0"	"10"	"1"	"43890538"	"43890538"	"subst"	"0.0104407"	"02326"	"SZT2_000040"	"g.43890538G>T"	""	""	""	"SZT2(NM_015284.4):c.2550+5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43424867G>T"	""	"benign"	""
"0000314341"	"0"	"10"	"1"	"43890811"	"43890811"	"subst"	"0.0155006"	"02326"	"SZT2_000041"	"g.43890811G>A"	""	""	""	"SZT2(NM_015284.3):c.2578G>A (p.(Glu860Lys)), SZT2(NM_015284.4):c.2578G>A (p.E860K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43425140G>A"	""	"benign"	""
"0000314342"	"0"	"30"	"1"	"43892489"	"43892489"	"subst"	"0.000841548"	"02326"	"SZT2_000042"	"g.43892489C>T"	""	""	""	"SZT2(NM_015284.3):c.3138+9C>T, SZT2(NM_015284.4):c.3138+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43426818C>T"	""	"likely benign"	""
"0000314343"	"0"	"30"	"1"	"43869452"	"43869452"	"subst"	"0.000162546"	"02326"	"SZT2_000032"	"g.43869452G>T"	""	""	""	"SZT2(NM_015284.3):c.327+7G>T, SZT2(NM_015284.4):c.327+7G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43403781G>T"	""	"likely benign"	""
"0000314344"	"0"	"30"	"1"	"43896217"	"43896217"	"subst"	"0.00351729"	"02326"	"SZT2_000044"	"g.43896217G>A"	""	""	""	"SZT2(NM_015284.4):c.4360G>A (p.V1454I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43430546G>A"	""	"likely benign"	""
"0000314345"	"0"	"10"	"1"	"43897496"	"43897496"	"subst"	"0.0104505"	"02326"	"SZT2_000046"	"g.43897496G>A"	""	""	""	"SZT2(NM_015284.4):c.5027G>A (p.R1676H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43431825G>A"	""	"benign"	""
"0000314346"	"0"	"30"	"1"	"43898403"	"43898403"	"subst"	"0.00348456"	"02326"	"SZT2_000048"	"g.43898403T>G"	""	""	""	"SZT2(NM_015284.4):c.5364T>G (p.S1788R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43432732T>G"	""	"likely benign"	""
"0000314347"	"0"	"50"	"1"	"43898446"	"43898446"	"subst"	"0"	"02326"	"SZT2_000049"	"g.43898446G>A"	""	""	""	"SZT2(NM_015284.4):c.5407G>A (p.G1803S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43432775G>A"	""	"VUS"	""
"0000314348"	"0"	"30"	"1"	"43898746"	"43898746"	"subst"	"0"	"02326"	"SZT2_000050"	"g.43898746C>T"	""	""	""	"SZT2(NM_015284.4):c.5518C>T (p.P1840S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43433075C>T"	""	"likely benign"	""
"0000314349"	"0"	"30"	"1"	"43880857"	"43880857"	"subst"	"0"	"02326"	"SZT2_000033"	"g.43880857G>A"	""	""	""	"SZT2(NM_015284.4):c.603G>A (p.L201=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43415186G>A"	""	"likely benign"	""
"0000314350"	"0"	"30"	"1"	"43903382"	"43903382"	"subst"	"0.000381865"	"02326"	"SZT2_000052"	"g.43903382C>T"	""	""	""	"SZT2(NM_015284.4):c.6225+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43437711C>T"	""	"likely benign"	""
"0000314352"	"0"	"30"	"1"	"43904434"	"43904434"	"subst"	"0.000703012"	"02326"	"SZT2_000055"	"g.43904434C>T"	""	""	""	"SZT2(NM_015284.3):c.6402C>T (p.D2134=), SZT2(NM_015284.4):c.6402C>T (p.D2134=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43438763C>T"	""	"likely benign"	""
"0000314353"	"0"	"30"	"1"	"43906111"	"43906111"	"subst"	"0.0016391"	"02326"	"SZT2_000057"	"g.43906111C>G"	""	""	""	"SZT2(NM_015284.4):c.7040-13C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43440440C>G"	""	"likely benign"	""
"0000314354"	"0"	"30"	"1"	"43906137"	"43906137"	"subst"	"0.000231965"	"02326"	"SZT2_000058"	"g.43906137C>T"	""	""	""	"SZT2(NM_001365999.1):c.7224C>T (p.N2408=), SZT2(NM_015284.4):c.7053C>T (p.N2351=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43440466C>T"	""	"likely benign"	""
"0000314355"	"0"	"30"	"1"	"43906169"	"43906169"	"subst"	"0.00234952"	"02326"	"SZT2_000059"	"g.43906169G>A"	""	""	""	"SZT2(NM_015284.4):c.7085G>A (p.R2362Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43440498G>A"	""	"likely benign"	""
"0000314356"	"0"	"10"	"1"	"43907172"	"43907172"	"subst"	"0.00306693"	"02326"	"SZT2_000062"	"g.43907172C>T"	""	""	""	"SZT2(NM_015284.4):c.7341-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43441501C>T"	""	"benign"	""
"0000314357"	"0"	"30"	"1"	"43907225"	"43907225"	"subst"	"0.00420837"	"02326"	"SZT2_000063"	"g.43907225T>C"	""	""	""	"SZT2(NM_015284.4):c.7391T>C (p.V2464A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43441554T>C"	""	"likely benign"	""
"0000314358"	"0"	"30"	"1"	"43907236"	"43907236"	"subst"	"0.00165731"	"02326"	"SZT2_000064"	"g.43907236G>A"	""	""	""	"SZT2(NM_015284.4):c.7402G>A (p.V2468I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43441565G>A"	""	"likely benign"	""
"0000314359"	"0"	"30"	"1"	"43907245"	"43907245"	"subst"	"0.000125935"	"02326"	"SZT2_000016"	"g.43907245C>T"	""	""	""	"SZT2(NM_001365999.1):c.7582C>T (p.R2528C, p.(Arg2528Cys)), SZT2(NM_015284.4):c.7411C>T (p.R2471C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43441574C>T"	""	"likely benign"	""
"0000314360"	"0"	"30"	"1"	"43908103"	"43908103"	"subst"	"0.00387556"	"02326"	"SZT2_000067"	"g.43908103C>T"	""	""	""	"SZT2(NM_015284.4):c.7804-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43442432C>T"	""	"likely benign"	""
"0000314361"	"0"	"30"	"1"	"43908593"	"43908593"	"subst"	"0.000800201"	"02326"	"SZT2_000019"	"g.43908593G>A"	""	""	""	"SZT2(NM_001365999.1):c.8255G>A (p.R2752H), SZT2(NM_015284.4):c.8084G>A (p.R2695H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43442922G>A"	""	"likely benign"	""
"0000314362"	"0"	"30"	"1"	"43912844"	"43912844"	"subst"	"0.000145778"	"02326"	"SZT2_000070"	"g.43912844G>A"	""	""	""	"SZT2(NM_001365999.1):c.9286+5G>A, SZT2(NM_015284.4):c.9115+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43447173G>A"	""	"likely benign"	""
"0000314363"	"0"	"30"	"1"	"43913508"	"43913508"	"subst"	"0.00438778"	"02326"	"SZT2_000071"	"g.43913508C>T"	""	""	""	"SZT2(NM_015284.4):c.9270-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43447837C>T"	""	"likely benign"	""
"0000316177"	"0"	"50"	"1"	"43887778"	"43887778"	"subst"	"0"	"01943"	"SZT2_000036"	"g.43887778T>A"	""	""	""	"SZT2(NM_015284.3):c.1651T>A (p.S551T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43422107T>A"	""	"VUS"	""
"0000316178"	"0"	"90"	"1"	"43887796"	"43887796"	"del"	"0"	"01943"	"SZT2_000037"	"g.43887796del"	""	""	""	"SZT2(NM_015284.3):c.1669delC (p.Q557Sfs*28)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43422125del"	""	"pathogenic"	""
"0000316179"	"0"	"30"	"1"	"43888172"	"43888172"	"subst"	"0.000420381"	"01943"	"SZT2_000038"	"g.43888172C>T"	""	""	""	"SZT2(NM_015284.3):c.1791C>T (p.H597=), SZT2(NM_015284.4):c.1791C>T (p.H597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43422501C>T"	""	"likely benign"	""
"0000316180"	"0"	"30"	"1"	"43892489"	"43892489"	"subst"	"0.000841548"	"01943"	"SZT2_000042"	"g.43892489C>T"	""	""	""	"SZT2(NM_015284.3):c.3138+9C>T, SZT2(NM_015284.4):c.3138+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43426818C>T"	""	"likely benign"	""
"0000316181"	"0"	"50"	"1"	"43869435"	"43869435"	"subst"	"0"	"01943"	"SZT2_000031"	"g.43869435C>T"	""	""	""	"SZT2(NM_015284.3):c.317C>T (p.T106I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43403764C>T"	""	"VUS"	""
"0000316182"	"0"	"30"	"1"	"43898045"	"43898045"	"subst"	"0.000220721"	"01943"	"SZT2_000047"	"g.43898045G>A"	""	""	""	"SZT2(NM_001365999.1):c.5377G>A (p.(Glu1793Lys)), SZT2(NM_015284.3):c.5206G>A (p.E1736K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43432374G>A"	""	"likely benign"	""
"0000316183"	"0"	"30"	"1"	"43900083"	"43900083"	"subst"	"7.88914E-5"	"01943"	"SZT2_000051"	"g.43900083C>T"	""	""	""	"SZT2(NM_015284.3):c.5660C>T (p.P1887L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43434412C>T"	""	"likely benign"	""
"0000316184"	"0"	"30"	"1"	"43907455"	"43907455"	"subst"	"0.00067415"	"01943"	"SZT2_000065"	"g.43907455G>A"	""	""	""	"SZT2(NM_015284.3):c.7537G>A (p.G2513R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43441784G>A"	""	"likely benign"	""
"0000316185"	"0"	"10"	"1"	"43881759"	"43881759"	"subst"	"0.00185787"	"01943"	"SZT2_000034"	"g.43881759G>A"	""	""	""	"SZT2(NM_001365999.1):c.759G>A (p.(Ser253=)), SZT2(NM_015284.3):c.759G>A (p.S253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43416088G>A"	""	"benign"	""
"0000316186"	"0"	"30"	"1"	"43908654"	"43908654"	"subst"	"0.0001178"	"01943"	"SZT2_000068"	"g.43908654G>A"	""	""	""	"SZT2(NM_015284.3):c.8145G>A (p.T2715=), SZT2(NM_015284.4):c.8145G>A (p.T2715=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43442983G>A"	""	"likely benign"	""
"0000320768"	"0"	"50"	"1"	"43852328"	"43852328"	"subst"	"4.17585E-5"	"01804"	"MED8_000001"	"g.43852328C>T"	""	""	""	"MED8(NM_001001653.2):c.158G>A (p.(Ser53Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43386657C>T"	""	"VUS"	""
"0000320772"	"0"	"50"	"1"	"43917601"	"43917601"	"subst"	"0.00540265"	"01804"	"HYI_000002"	"g.43917601C>T"	""	""	""	"HYI(NM_001190880.2):c.505+5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43451930C>T"	""	"VUS"	""
"0000320773"	"0"	"50"	"1"	"43919066"	"43919066"	"subst"	"0.000712994"	"01804"	"HYI_000003"	"g.43919066C>T"	""	""	""	"HYI(NM_001190880.2):c.302G>A (p.(Gly101Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43453395C>T"	""	"VUS"	""
"0000341983"	"0"	"50"	"1"	"43896662"	"43896662"	"subst"	"8.12559E-6"	"02327"	"SZT2_000072"	"g.43896662G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43430991G>A"	""	"VUS"	""
"0000342228"	"0"	"50"	"1"	"43903514"	"43903514"	"subst"	"8.12367E-6"	"02327"	"SZT2_000073"	"g.43903514G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43437843G>A"	""	"VUS"	""
"0000400800"	"0"	"70"	"1"	"43885570"	"43885570"	"del"	"0"	"02552"	"SZT2_000074"	"g.43885570del"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43419899del"	""	"likely pathogenic (recessive)"	""
"0000400801"	"0"	"70"	"1"	"43888272"	"43888272"	"subst"	"0"	"02552"	"SZT2_000075"	"g.43888272G>A"	""	"{PMID:Papuc 2019:30552426}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.43422601G>A"	""	"likely pathogenic (recessive)"	""
"0000507541"	"0"	"30"	"1"	"43869452"	"43869452"	"subst"	"0.000162546"	"01943"	"SZT2_000032"	"g.43869452G>T"	""	""	""	"SZT2(NM_015284.3):c.327+7G>T, SZT2(NM_015284.4):c.327+7G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43403781G>T"	""	"likely benign"	""
"0000507543"	"0"	"90"	"1"	"43886463"	"43886464"	"del"	"0"	"01943"	"HYI_000006"	"g.43886463_43886464del"	""	""	""	"SZT2(NM_015284.3):c.1305_1306delCA (p.H435Qfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43420792_43420793del"	""	"pathogenic"	""
"0000507545"	"0"	"30"	"1"	"43888542"	"43888542"	"subst"	"0.000366691"	"02326"	"HYI_000008"	"g.43888542G>A"	""	""	""	"SZT2(NM_015284.4):c.2025G>A (p.P675=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43422871G>A"	""	"likely benign"	""
"0000507546"	"0"	"30"	"1"	"43890538"	"43890538"	"subst"	"0.00305909"	"01804"	"HYI_000009"	"g.43890538G>A"	""	""	""	"SZT2(NM_015284.3):c.2550+5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43424867G>A"	""	"likely benign"	""
"0000507548"	"0"	"30"	"1"	"43890811"	"43890811"	"subst"	"0.0155006"	"01804"	"SZT2_000041"	"g.43890811G>A"	""	""	""	"SZT2(NM_015284.3):c.2578G>A (p.(Glu860Lys)), SZT2(NM_015284.4):c.2578G>A (p.E860K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43425140G>A"	""	"likely benign"	""
"0000507549"	"0"	"30"	"1"	"43890864"	"43890864"	"subst"	"0.00749332"	"01943"	"HYI_000010"	"g.43890864C>T"	""	""	""	"SZT2(NM_015284.3):c.2631C>T (p.T877=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43425193C>T"	""	"likely benign"	""
"0000507550"	"0"	"50"	"1"	"43891273"	"43891273"	"subst"	"0.00025997"	"01943"	"HYI_000011"	"g.43891273A>T"	""	""	""	"SZT2(NM_015284.3):c.2774A>T (p.K925M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43425602A>T"	""	"VUS"	""
"0000507551"	"0"	"30"	"1"	"43891578"	"43891578"	"subst"	"0.00017055"	"01943"	"HYI_000012"	"g.43891578A>G"	""	""	""	"SZT2(NM_015284.3):c.2887A>G (p.K963E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43425907A>G"	""	"likely benign"	""
"0000507552"	"0"	"30"	"1"	"43891629"	"43891629"	"subst"	"0.00334265"	"02326"	"HYI_000013"	"g.43891629G>A"	""	""	""	"SZT2(NM_015284.4):c.2929+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43425958G>A"	""	"likely benign"	""
"0000507553"	"0"	"10"	"1"	"43892438"	"43892438"	"subst"	"0.003171"	"01943"	"HYI_000014"	"g.43892438C>T"	""	""	""	"SZT2(NM_015284.3):c.3096C>T (p.V1032=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43426767C>T"	""	"benign"	""
"0000507555"	"0"	"50"	"1"	"43892772"	"43892772"	"subst"	"0.000718811"	"02327"	"HYI_000015"	"g.43892772C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43427101C>G"	""	"VUS"	""
"0000507556"	"0"	"30"	"1"	"43895383"	"43895383"	"subst"	"0.000333"	"02326"	"HYI_000016"	"g.43895383C>T"	""	""	""	"SZT2(NM_015284.4):c.4005C>T (p.T1335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43429712C>T"	""	"likely benign"	""
"0000507557"	"0"	"30"	"1"	"43896743"	"43896743"	"subst"	"0.00187906"	"02326"	"SZT2_000008"	"g.43896743C>T"	""	""	""	"SZT2(NM_001365999.1):c.4898C>T (p.S1633L), SZT2(NM_015284.4):c.4727C>T (p.S1576L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43431072C>T"	""	"likely benign"	""
"0000507558"	"0"	"30"	"1"	"43897181"	"43897181"	"subst"	"0.00236355"	"02326"	"HYI_000017"	"g.43897181C>T"	""	""	""	"SZT2(NM_015284.4):c.4904C>T (p.T1635I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43431510C>T"	""	"likely benign"	""
"0000507561"	"0"	"90"	"1"	"43900871"	"43900871"	"subst"	"1.62633E-5"	"02325"	"SZT2_000012"	"g.43900871C>T"	""	""	""	"SZT2(NM_015284.4):c.5734C>T (p.R1912*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43435200C>T"	""	"pathogenic"	""
"0000507563"	"0"	"30"	"1"	"43903367"	"43903367"	"subst"	"0"	"01804"	"HYI_000020"	"g.43903367C>G"	""	""	""	"SZT2(NM_015284.3):c.6221C>G (p.(Ala2074Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43437696C>G"	""	"likely benign"	""
"0000507564"	"0"	"30"	"1"	"43903448"	"43903448"	"subst"	"0"	"02326"	"HYI_000021"	"g.43903448A>C"	""	""	""	"SZT2(NM_015284.4):c.6226-14A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43437777A>C"	""	"likely benign"	""
"0000507565"	"0"	"30"	"1"	"43903587"	"43903587"	"dup"	"0"	"02326"	"HYI_000022"	"g.43903587dup"	""	""	""	"SZT2(NM_015284.4):c.6337+14dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43437916dup"	""	"likely benign"	""
"0000507566"	"0"	"30"	"1"	"43904434"	"43904434"	"subst"	"0.000703012"	"01943"	"SZT2_000055"	"g.43904434C>T"	""	""	""	"SZT2(NM_015284.3):c.6402C>T (p.D2134=), SZT2(NM_015284.4):c.6402C>T (p.D2134=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43438763C>T"	""	"likely benign"	""
"0000507567"	"0"	"30"	"1"	"43904443"	"43904443"	"subst"	"0.000349693"	"02326"	"HYI_000023"	"g.43904443A>G"	""	""	""	"SZT2(NM_015284.4):c.6411A>G (p.T2137=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43438772A>G"	""	"likely benign"	""
"0000507568"	"0"	"50"	"1"	"43905057"	"43905057"	"subst"	"8.14989E-6"	"02325"	"HYI_000024"	"g.43905057C>G"	""	""	""	"SZT2(NM_015284.4):c.6650C>G (p.P2217R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43439386C>G"	""	"VUS"	""
"0000507569"	"0"	"30"	"1"	"43905359"	"43905359"	"subst"	"0.000131299"	"01943"	"HYI_000025"	"g.43905359C>T"	""	""	""	"SZT2(NM_015284.3):c.6790C>T (p.P2264S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43439688C>T"	""	"likely benign"	""
"0000507570"	"0"	"50"	"1"	"43906214"	"43906214"	"subst"	"8.29435E-6"	"02325"	"HYI_000026"	"g.43906214C>G"	""	""	""	"SZT2(NM_015284.4):c.7130C>G (p.T2377S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43440543C>G"	""	"VUS"	""
"0000507571"	"0"	"30"	"1"	"43907014"	"43907014"	"subst"	"0.000373616"	"01804"	"HYI_000027"	"g.43907014C>T"	""	""	""	"SZT2(NM_015284.3):c.7303C>T (p.(Arg2435Trp)), SZT2(NM_015284.4):c.7303C>T (p.R2435W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43441343C>T"	""	"likely benign"	""
"0000507572"	"0"	"30"	"1"	"43907176"	"43907176"	"subst"	"0.000200093"	"01804"	"HYI_000028"	"g.43907176C>T"	""	""	""	"SZT2(NM_015284.3):c.7342C>T (p.(Arg2448Cys)), SZT2(NM_015284.4):c.7342C>T (p.R2448C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43441505C>T"	""	"likely benign"	""
"0000507574"	"0"	"10"	"1"	"43908158"	"43908158"	"subst"	"0.00307197"	"01943"	"HYI_000029"	"g.43908158T>C"	""	""	""	"SZT2(NM_015284.3):c.7849T>C (p.L2617=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442487T>C"	""	"benign"	""
"0000507575"	"0"	"30"	"1"	"43908515"	"43908515"	"subst"	"0.00040874"	"02326"	"HYI_000030"	"g.43908515C>G"	""	""	""	"SZT2(NM_015284.4):c.8006C>G (p.T2669S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442844C>G"	""	"likely benign"	""
"0000507576"	"0"	"30"	"1"	"43908654"	"43908654"	"subst"	"0.0001178"	"02326"	"SZT2_000068"	"g.43908654G>A"	""	""	""	"SZT2(NM_015284.3):c.8145G>A (p.T2715=), SZT2(NM_015284.4):c.8145G>A (p.T2715=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442983G>A"	""	"likely benign"	""
"0000507577"	"0"	"30"	"1"	"43909078"	"43909078"	"subst"	"8.12949E-6"	"02326"	"HYI_000031"	"g.43909078C>G"	""	""	""	"SZT2(NM_015284.4):c.8384C>G (p.T2795R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43443407C>G"	""	"likely benign"	""
"0000507578"	"0"	"30"	"1"	"43909344"	"43909344"	"subst"	"0.000984292"	"01943"	"SZT2_000021"	"g.43909344C>T"	""	""	""	"SZT2(NM_015284.3):c.8531C>T (p.P2844L), SZT2(NM_015284.4):c.8531C>T (p.P2844L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43443673C>T"	""	"likely benign"	""
"0000507580"	"0"	"30"	"1"	"43909344"	"43909344"	"subst"	"0.000984292"	"02326"	"SZT2_000021"	"g.43909344C>T"	""	""	""	"SZT2(NM_015284.3):c.8531C>T (p.P2844L), SZT2(NM_015284.4):c.8531C>T (p.P2844L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43443673C>T"	""	"likely benign"	""
"0000507581"	"0"	"30"	"1"	"43909453"	"43909453"	"subst"	"0"	"01943"	"HYI_000032"	"g.43909453C>A"	""	""	""	"SZT2(NM_015284.3):c.8640C>A (p.P2880=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43443782C>A"	""	"likely benign"	""
"0000507583"	"0"	"50"	"1"	"43913587"	"43913590"	"del"	"0"	"01943"	"HYI_000034"	"g.43913587_43913590del"	""	""	""	"SZT2(NM_015284.3):c.9337_9340delTGTC (p.C3113Tfs*70)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43447916_43447919del"	""	"VUS"	""
"0000507584"	"0"	"30"	"1"	"43913815"	"43913815"	"subst"	"0.000288182"	"01804"	"HYI_000035"	"g.43913815G>A"	""	""	""	"SZT2(NM_015284.3):c.9458G>A (p.(Arg3153His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43448144G>A"	""	"likely benign"	""
"0000507585"	"0"	"30"	"1"	"43913909"	"43913909"	"subst"	"0.0021836"	"01943"	"HYI_000036"	"g.43913909G>A"	""	""	""	"SZT2(NM_015284.3):c.9552G>A (p.A3184=, p.(=)), SZT2(NM_015284.4):c.9552G>A (p.A3184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43448238G>A"	""	"likely benign"	""
"0000507586"	"0"	"30"	"1"	"43913909"	"43913909"	"subst"	"0.0021836"	"01804"	"HYI_000036"	"g.43913909G>A"	""	""	""	"SZT2(NM_015284.3):c.9552G>A (p.A3184=, p.(=)), SZT2(NM_015284.4):c.9552G>A (p.A3184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43448238G>A"	""	"likely benign"	""
"0000507587"	"0"	"50"	"1"	"43913968"	"43913968"	"subst"	"0.000512561"	"01943"	"HYI_000037"	"g.43913968G>A"	""	""	""	"SZT2(NM_015284.3):c.9611G>A (p.R3204Q, p.(Arg3204Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43448297G>A"	""	"VUS"	""
"0000507588"	"0"	"30"	"1"	"43913968"	"43913968"	"subst"	"0.000512561"	"01804"	"HYI_000037"	"g.43913968G>A"	""	""	""	"SZT2(NM_015284.3):c.9611G>A (p.R3204Q, p.(Arg3204Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43448297G>A"	""	"likely benign"	""
"0000507589"	"0"	"50"	"1"	"43913985"	"43913985"	"subst"	"0.000240391"	"01804"	"HYI_000038"	"g.43913985C>T"	""	""	""	"SZT2(NM_015284.3):c.9628C>T (p.(Arg3210Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43448314C>T"	""	"VUS"	""
"0000507590"	"0"	"30"	"1"	"43916045"	"43916045"	"subst"	"4.06693E-6"	"01943"	"HYI_000039"	"g.43916045A>C"	""	""	""	"SZT2(NM_015284.3):c.10022A>C (p.Q3341P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43450374A>C"	""	"likely benign"	""
"0000507594"	"0"	"30"	"1"	"43919081"	"43919081"	"subst"	"0.0194264"	"01804"	"HYI_000043"	"g.43919081T>C"	""	""	""	"HYI(NM_001190880.2):c.287A>G (p.(Tyr96Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43453410T>C"	""	"likely benign"	""
"0000605777"	"0"	"30"	"1"	"43881642"	"43881642"	"subst"	"0"	"01804"	"HYI_000044"	"g.43881642G>T"	""	""	""	"SZT2(NM_015284.3):c.642G>T (p.(Gln214His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43415971G>T"	""	"likely benign"	""
"0000605778"	"0"	"30"	"1"	"43886646"	"43886646"	"subst"	"0.000118968"	"01943"	"HYI_000045"	"g.43886646G>A"	""	""	""	"SZT2(NM_015284.3):c.1488G>A (p.T496=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43420975G>A"	""	"likely benign"	""
"0000605779"	"0"	"30"	"1"	"43886646"	"43886646"	"subst"	"1.76249E-5"	"01943"	"HYI_000046"	"g.43886646G>T"	""	""	""	"SZT2(NM_015284.3):c.1488G>T (p.T496=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43420975G>T"	""	"likely benign"	""
"0000605780"	"0"	"30"	"1"	"43888985"	"43888985"	"subst"	"6.87222E-5"	"01943"	"HYI_000047"	"g.43888985C>T"	""	""	""	"SZT2(NM_001365999.1):c.2253C>T (p.(Ile751=)), SZT2(NM_015284.3):c.2253C>T (p.I751=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43423314C>T"	""	"likely benign"	""
"0000605781"	"0"	"50"	"1"	"43890058"	"43890058"	"subst"	"4.36312E-6"	"02325"	"HYI_000048"	"g.43890058C>T"	""	""	""	"SZT2(NM_001365999.1):c.2426C>T (p.(Ala809Val)), SZT2(NM_015284.4):c.2426C>T (p.A809V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43424387C>T"	""	"VUS"	""
"0000605782"	"0"	"30"	"1"	"43891729"	"43891729"	"subst"	"0"	"01943"	"HYI_000049"	"g.43891729A>G"	""	""	""	"SZT2(NM_001365999.1):c.2950A>G (p.T984A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43426058A>G"	""	"likely benign"	""
"0000605783"	"0"	"30"	"1"	"43891734"	"43891734"	"subst"	"0.00131165"	"01943"	"HYI_000050"	"g.43891734C>T"	""	""	""	"SZT2(NM_015284.3):c.2955C>T (p.C985=), SZT2(NM_015284.4):c.2955C>T (p.C985=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43426063C>T"	""	"likely benign"	""
"0000605784"	"0"	"30"	"1"	"43895677"	"43895677"	"subst"	"0.000328918"	"01804"	"HYI_000051"	"g.43895677A>C"	""	""	""	"SZT2(NM_015284.3):c.4138-5A>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43430006A>C"	""	"likely benign"	""
"0000605785"	"0"	"50"	"1"	"43896226"	"43896226"	"subst"	"9.74778E-5"	"01943"	"HYI_000052"	"g.43896226C>T"	""	""	""	"SZT2(NM_015284.3):c.4369C>T (p.R1457W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43430555C>T"	""	"VUS"	""
"0000605786"	"0"	"50"	"1"	"43896737"	"43896737"	"subst"	"0.000451267"	"01943"	"HYI_000053"	"g.43896737C>T"	""	""	""	"SZT2(NM_015284.3):c.4721C>T (p.T1574M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43431066C>T"	""	"VUS"	""
"0000605787"	"0"	"30"	"1"	"43897002"	"43897002"	"subst"	"0.0015011"	"02326"	"HYI_000054"	"g.43897002T>C"	""	""	""	"SZT2(NM_015284.4):c.4812T>C (p.D1604=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43431331T>C"	""	"likely benign"	""
"0000605788"	"0"	"30"	"1"	"43907737"	"43907737"	"subst"	"0"	"01943"	"HYI_000055"	"g.43907737A>C"	""	""	""	"SZT2(NM_015284.3):c.7638A>C (p.A2546=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442066A>C"	""	"likely benign"	""
"0000605789"	"0"	"50"	"1"	"43907739"	"43907740"	"ins"	"0"	"01943"	"HYI_000056"	"g.43907739_43907740insCC"	""	""	""	"SZT2(NM_015284.3):c.7640_7641insCC (p.E2548Lfs*49)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442068_43442069insCC"	""	"VUS"	""
"0000605790"	"0"	"30"	"1"	"43907740"	"43907740"	"subst"	"0.000349884"	"01943"	"HYI_000057"	"g.43907740T>A"	""	""	""	"SZT2(NM_015284.3):c.7641T>A (p.A2547=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442069T>A"	""	"likely benign"	""
"0000605791"	"0"	"30"	"1"	"43908169"	"43908169"	"subst"	"0.000146288"	"02326"	"HYI_000058"	"g.43908169G>A"	""	""	""	"SZT2(NM_015284.4):c.7860G>A (p.A2620=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43442498G>A"	""	"likely benign"	""
"0000605792"	"0"	"30"	"1"	"43913221"	"43913221"	"subst"	"0.000741242"	"01943"	"HYI_000033"	"g.43913221T>C"	""	""	""	"SZT2(NM_015284.3):c.9121T>C (p.L3041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43447550T>C"	""	"likely benign"	""
"0000647704"	"1"	"10"	"1"	"43890811"	"43890811"	"subst"	"0.0155006"	"03575"	"SZT2_000041"	"g.43890811G>A"	"41/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"41 heterozygous; {DB:CLININrs143992266}"	"Germline"	""	"rs143992266"	"0"	""	""	"g.43425140G>A"	""	"benign"	""
"0000647705"	"1"	"10"	"1"	"43897496"	"43897496"	"subst"	"0.0104505"	"03575"	"SZT2_000046"	"g.43897496G>A"	"55/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"55 heterozygous, no homozygous; {DB:CLININrs147797700}"	"Germline"	""	"rs147797700"	"0"	""	""	"g.43431825G>A"	""	"benign"	""
"0000647706"	"1"	"10"	"1"	"43898053"	"43898053"	"subst"	"0.0295259"	"03575"	"SZT2_000076"	"g.43898053T>G"	"200/2790 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"200 heterozygous; {DB:CLININrs12129487}"	"Germline"	""	"rs12129487"	"0"	""	""	"g.43432382T>G"	""	"benign"	""
"0000647707"	"1"	"10"	"1"	"43905286"	"43905286"	"subst"	"0.0203449"	"03575"	"SZT2_000077"	"g.43905286C>T"	"30/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"30 heterozygous; {DB:CLININrs72671125}"	"Germline"	""	"rs72671125"	"0"	""	""	"g.43439615C>T"	""	"benign"	""
"0000654044"	"0"	"30"	"1"	"43892203"	"43892203"	"subst"	"0"	"01943"	"HYI_000060"	"g.43892203G>A"	""	""	""	"SZT2(NM_001365999.1):c.3208G>A (p.V1070I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43426532G>A"	""	"likely benign"	""
"0000654045"	"0"	"30"	"1"	"43898013"	"43898013"	"subst"	"0.000512321"	"02326"	"SZT2_000010"	"g.43898013C>T"	""	""	""	"SZT2(NM_015284.4):c.5174C>T (p.A1725V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43432342C>T"	""	"likely benign"	""
"0000654046"	"0"	"30"	"1"	"43913381"	"43913381"	"del"	"0.000249077"	"02326"	"HYI_000061"	"g.43913381del"	""	""	""	"SZT2(NM_015284.4):c.9269+12delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43447710del"	""	"likely benign"	""
"0000669022"	"3"	"10"	"1"	"43890811"	"43890811"	"subst"	"0.0155006"	"03575"	"SZT2_000041"	"g.43890811G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs143992266}"	"Germline"	""	"rs143992266"	"0"	""	""	"g.43425140G>A"	""	"benign"	""
"0000669023"	"3"	"10"	"1"	"43898053"	"43898053"	"subst"	"0.0295259"	"03575"	"SZT2_000076"	"g.43898053T>G"	"6/2790 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 homozygous; {DB:CLININrs12129487}"	"Germline"	""	"rs12129487"	"0"	""	""	"g.43432382T>G"	""	"benign"	""
"0000669024"	"3"	"10"	"1"	"43905286"	"43905286"	"subst"	"0.0203449"	"03575"	"SZT2_000077"	"g.43905286C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs72671125}"	"Germline"	""	"rs72671125"	"0"	""	""	"g.43439615C>T"	""	"benign"	""
"0000675857"	"0"	"30"	"1"	"43888172"	"43888172"	"subst"	"0.000420381"	"02326"	"SZT2_000038"	"g.43888172C>T"	""	""	""	"SZT2(NM_015284.3):c.1791C>T (p.H597=), SZT2(NM_015284.4):c.1791C>T (p.H597=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675858"	"0"	"30"	"1"	"43892987"	"43892987"	"subst"	"0.00148146"	"02326"	"HYI_000062"	"g.43892987C>T"	""	""	""	"SZT2(NM_015284.4):c.3298C>T (p.P1100S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675859"	"0"	"30"	"1"	"43896743"	"43896743"	"subst"	"0.00187906"	"01943"	"SZT2_000008"	"g.43896743C>T"	""	""	""	"SZT2(NM_001365999.1):c.4898C>T (p.S1633L), SZT2(NM_015284.4):c.4727C>T (p.S1576L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675860"	"0"	"30"	"1"	"43904358"	"43904358"	"subst"	"1.22258E-5"	"02326"	"HYI_000063"	"g.43904358G>C"	""	""	""	"SZT2(NM_015284.4):c.6338-12G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675861"	"0"	"30"	"1"	"43904776"	"43904776"	"subst"	"9.42283E-5"	"02326"	"HYI_000064"	"g.43904776C>T"	""	""	""	"SZT2(NM_015284.4):c.6621+12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675862"	"0"	"30"	"1"	"43905431"	"43905431"	"subst"	"1.77664E-5"	"01943"	"HYI_000065"	"g.43905431A>G"	""	""	""	"SZT2(NM_001365999.1):c.7033A>G (p.S2345G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675863"	"0"	"30"	"1"	"43906137"	"43906137"	"subst"	"0.000231965"	"01943"	"SZT2_000058"	"g.43906137C>T"	""	""	""	"SZT2(NM_001365999.1):c.7224C>T (p.N2408=), SZT2(NM_015284.4):c.7053C>T (p.N2351=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675864"	"0"	"30"	"1"	"43908525"	"43908525"	"subst"	"3.28321E-5"	"01943"	"HYI_000066"	"g.43908525G>C"	""	""	""	"SZT2(NM_015284.3):c.8016G>C (p.V2672=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675865"	"0"	"50"	"1"	"43908598"	"43908598"	"subst"	"0"	"01943"	"HYI_000067"	"g.43908598G>A"	""	""	""	"SZT2(NM_015284.3):c.8089G>A (p.G2697R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675866"	"0"	"30"	"1"	"43913909"	"43913909"	"subst"	"0.0021836"	"02326"	"HYI_000036"	"g.43913909G>A"	""	""	""	"SZT2(NM_015284.3):c.9552G>A (p.A3184=, p.(=)), SZT2(NM_015284.4):c.9552G>A (p.A3184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688181"	"0"	"50"	"1"	"43870180"	"43870180"	"subst"	"0"	"01943"	"HYI_000068"	"g.43870180A>G"	""	""	""	"SZT2(NM_001365999.1):c.457A>G (p.I153V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688182"	"0"	"50"	"1"	"43909326"	"43909326"	"subst"	"4.06633E-6"	"02325"	"HYI_000069"	"g.43909326C>T"	""	""	""	"SZT2(NM_015284.4):c.8513C>T (p.S2838F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688183"	"0"	"50"	"1"	"43916092"	"43916092"	"subst"	"2.43708E-5"	"02325"	"HYI_000070"	"g.43916092C>T"	""	""	""	"SZT2(NM_015284.4):c.10069C>T (p.H3357Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688184"	"0"	"50"	"1"	"43919069"	"43919069"	"subst"	"0"	"02325"	"HYI_000071"	"g.43919069A>C"	""	""	""	"SZT2(NM_015284.4):c.*2918A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000710204"	"21"	"90"	"1"	"43886656"	"43886656"	"subst"	"0"	"00006"	"SZT2_000078"	"g.43886656T>C"	""	"{PMID:Hong 2020:33333793}"	""	""	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.43420985T>C"	""	"pathogenic (recessive)"	""
"0000710210"	"11"	"90"	"1"	"43912779"	"43912779"	"subst"	"0"	"00006"	"SZT2_000079"	"g.43912779C>T"	""	"{PMID:Hong 2020:33333793}"	""	"9055T>C"	"ACMG PVS1, PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.43447108C>T"	""	"pathogenic"	""
"0000717504"	"0"	"50"	"1"	"43880870"	"43880870"	"subst"	"3.09578E-5"	"01943"	"HYI_000072"	"g.43880870G>A"	""	""	""	"SZT2(NM_001365999.1):c.616G>A (p.D206N, p.(Asp206Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717505"	"0"	"50"	"1"	"43886961"	"43886961"	"subst"	"0.000136652"	"01943"	"HYI_000073"	"g.43886961G>C"	""	""	""	"SZT2(NM_001365999.1):c.1613G>C (p.G538A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717506"	"0"	"50"	"1"	"43888546"	"43888546"	"subst"	"2.97835E-5"	"02325"	"HYI_000074"	"g.43888546C>T"	""	""	""	"SZT2(NM_001365999.1):c.2029C>T (p.(Arg677Trp)), SZT2(NM_015284.4):c.2029C>T (p.R677W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717507"	"0"	"50"	"1"	"43890511"	"43890511"	"subst"	"6.09167E-5"	"02325"	"HYI_000075"	"g.43890511T>C"	""	""	""	"SZT2(NM_015284.4):c.2528T>C (p.M843T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717508"	"0"	"30"	"1"	"43891734"	"43891734"	"subst"	"0.00131165"	"02326"	"HYI_000050"	"g.43891734C>T"	""	""	""	"SZT2(NM_015284.3):c.2955C>T (p.C985=), SZT2(NM_015284.4):c.2955C>T (p.C985=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717509"	"0"	"30"	"1"	"43897157"	"43897157"	"subst"	"2.43663E-5"	"01943"	"HYI_000076"	"g.43897157C>T"	""	""	""	"SZT2(NM_015284.3):c.4880C>T (p.T1627M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717510"	"0"	"50"	"1"	"43900128"	"43900128"	"subst"	"2.79122E-5"	"01943"	"HYI_000077"	"g.43900128T>C"	""	""	""	"SZT2(NM_001365999.1):c.5876T>C (p.V1959A), SZT2(NM_015284.3):c.5705T>C (p.V1902A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717511"	"0"	"50"	"1"	"43907014"	"43907014"	"subst"	"0.000373616"	"02325"	"HYI_000027"	"g.43907014C>T"	""	""	""	"SZT2(NM_015284.3):c.7303C>T (p.(Arg2435Trp)), SZT2(NM_015284.4):c.7303C>T (p.R2435W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717512"	"0"	"30"	"1"	"43908300"	"43908300"	"subst"	"9.98316E-5"	"02326"	"HYI_000078"	"g.43908300C>T"	""	""	""	"SZT2(NM_015284.4):c.7980+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717513"	"0"	"50"	"1"	"43908593"	"43908593"	"subst"	"0.000800201"	"01943"	"SZT2_000019"	"g.43908593G>A"	""	""	""	"SZT2(NM_001365999.1):c.8255G>A (p.R2752H), SZT2(NM_015284.4):c.8084G>A (p.R2695H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717514"	"0"	"50"	"1"	"43912076"	"43912076"	"subst"	"0"	"02325"	"HYI_000079"	"g.43912076G>A"	""	""	""	"SZT2(NM_015284.4):c.8890G>A (p.V2964I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717515"	"0"	"30"	"1"	"43913634"	"43913634"	"subst"	"0.00062983"	"02326"	"HYI_000080"	"g.43913634C>T"	""	""	""	"SZT2(NM_015284.3):c.9384C>T (p.H3128=), SZT2(NM_015284.4):c.9384C>T (p.H3128=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000795629"	"3"	"70"	"1"	"43907173"	"43907173"	"subst"	"0"	"00000"	"SZT2_000080"	"g.43907173A>G"	""	"{PMID:Nair 2018:30293248}"	""	"NM_015284.3:c.7341-2A>G;"	""	"Unknown"	"?"	""	"0"	""	""	"g.43441502A>G"	""	"likely pathogenic"	""
"0000799374"	"0"	"50"	"1"	"43890004"	"43890004"	"subst"	"1.30835E-5"	"01943"	"HYI_000081"	"g.43890004G>A"	""	""	""	"SZT2(NM_001365999.1):c.2372G>A (p.R791H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799375"	"0"	"30"	"1"	"43908297"	"43908297"	"subst"	"0.00018044"	"01943"	"HYI_000082"	"g.43908297C>A"	""	""	""	"SZT2(NM_015284.3):c.7980+8C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799376"	"0"	"30"	"1"	"43908298"	"43908298"	"subst"	"0.000181123"	"01943"	"HYI_000083"	"g.43908298T>G"	""	""	""	"SZT2(NM_001365999.1):c.8151+9T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799377"	"0"	"30"	"1"	"43913634"	"43913634"	"subst"	"0.00062983"	"01943"	"HYI_000080"	"g.43913634C>T"	""	""	""	"SZT2(NM_015284.3):c.9384C>T (p.H3128=), SZT2(NM_015284.4):c.9384C>T (p.H3128=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848744"	"0"	"30"	"1"	"43888140"	"43888140"	"subst"	"0.000127451"	"02326"	"HYI_000084"	"g.43888140C>T"	""	""	""	"SZT2(NM_015284.4):c.1770-11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848745"	"0"	"30"	"1"	"43888460"	"43888460"	"subst"	"3.24426E-5"	"01943"	"HYI_000085"	"g.43888460A>G"	""	""	""	"SZT2(NM_001365999.1):c.1943A>G (p.N648S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848746"	"0"	"30"	"1"	"43898697"	"43898697"	"subst"	"0"	"01943"	"HYI_000087"	"g.43898697T>C"	""	""	""	"SZT2(NM_001365999.1):c.5640T>C (p.G1880=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848747"	"0"	"50"	"1"	"43907245"	"43907245"	"subst"	"0.000125935"	"01943"	"SZT2_000016"	"g.43907245C>T"	""	""	""	"SZT2(NM_001365999.1):c.7582C>T (p.R2528C, p.(Arg2528Cys)), SZT2(NM_015284.4):c.7411C>T (p.R2471C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857504"	"0"	"30"	"1"	"43894073"	"43894073"	"subst"	"1.62422E-5"	"01943"	"HYI_000086"	"g.43894073G>C"	""	""	""	"SZT2(NM_015284.3):c.3911G>C (p.G1304A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857505"	"0"	"30"	"1"	"43907018"	"43907018"	"subst"	"2.43653E-5"	"01943"	"HYI_000088"	"g.43907018C>T"	""	""	""	"SZT2(NM_001365999.1):c.7478C>T (p.A2493V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883465"	"0"	"50"	"1"	"43890501"	"43890501"	"subst"	"8.12216E-6"	"02325"	"HYI_000089"	"g.43890501A>G"	""	""	""	"SZT2(NM_015284.4):c.2518A>G (p.I840V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000909293"	"3"	"50"	"1"	"43898022"	"43898022"	"subst"	"0"	"01164"	"SZT2_000081"	"g.43898022A>G"	""	""	""	""	"ACMG: PM2_SUP, BP4"	"Germline"	"?"	""	"0"	""	""	"g.43432351A>G"	"VCV000849525.7"	"VUS"	"ACMG"
"0000936269"	"0"	"50"	"1"	"43905410"	"43905410"	"subst"	"1.25762E-5"	"00006"	"SZT2_000084"	"g.43905410C>T"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_015284:c.C6841T (R2281C)"	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000936492"	"11"	"90"	"1"	"43909301"	"43909301"	"subst"	"4.06736E-6"	"00006"	"SZT2_000082"	"g.43909301C>T"	""	"{PMID:Hamdan 2017:29100083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43443630C>T"	""	"pathogenic (recessive)"	""
"0000936493"	"21"	"70"	"1"	"43905638"	"43905638"	"subst"	"0"	"00006"	"SZT2_000083"	"g.43905638G>C"	""	"{PMID:Hamdan 2017:29100083}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43439967G>C"	""	"likely pathogenic (recessive)"	""
"0000952300"	"3"	"50"	"1"	"43893079"	"43893079"	"subst"	"1.62811E-5"	"00006"	"SZT2_000085"	"g.43893079G>T"	""	"{PMID:Chatron 2020:32282878}"	""	"NM_015284.3:c.3390G>T"	""	"Germline"	""	""	"0"	""	""	"g.43427408G>T"	""	"VUS"	""
"0000952305"	"3"	"50"	"1"	"43893079"	"43893079"	"subst"	"1.62811E-5"	"00006"	"SZT2_000085"	"g.43893079G>T"	""	"{PMID:Chatron 2020:32282878}"	""	"NM_015284.3:c.3390G>T"	""	"Germline"	""	""	"0"	""	""	"g.43427408G>T"	""	"VUS"	""
"0000973974"	"0"	"30"	"1"	"43868843"	"43868843"	"subst"	"8.13339E-6"	"01804"	"HYI_000090"	"g.43868843C>G"	""	""	""	"SZT2(NM_001365999.1):c.28-5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973975"	"0"	"30"	"1"	"43881759"	"43881759"	"subst"	"0.00185787"	"01804"	"SZT2_000034"	"g.43881759G>A"	""	""	""	"SZT2(NM_001365999.1):c.759G>A (p.(Ser253=)), SZT2(NM_015284.3):c.759G>A (p.S253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973976"	"0"	"50"	"1"	"43888546"	"43888546"	"subst"	"2.97835E-5"	"01804"	"HYI_000074"	"g.43888546C>T"	""	""	""	"SZT2(NM_001365999.1):c.2029C>T (p.(Arg677Trp)), SZT2(NM_015284.4):c.2029C>T (p.R677W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973977"	"0"	"50"	"1"	"43888985"	"43888985"	"subst"	"6.87222E-5"	"01804"	"HYI_000047"	"g.43888985C>T"	""	""	""	"SZT2(NM_001365999.1):c.2253C>T (p.(Ile751=)), SZT2(NM_015284.3):c.2253C>T (p.I751=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973978"	"0"	"30"	"1"	"43892035"	"43892035"	"subst"	"0"	"01804"	"HYI_000091"	"g.43892035G>T"	""	""	""	"SZT2(NM_001365999.1):c.3044-4G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973979"	"0"	"50"	"1"	"43893918"	"43893918"	"subst"	"0"	"02325"	"HYI_000092"	"g.43893918C>G"	""	""	""	"SZT2(NM_015284.4):c.3756C>G (p.F1252L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973980"	"0"	"50"	"1"	"43894113"	"43894130"	"del"	"0"	"01804"	"HYI_000093"	"g.43894113_43894130del"	""	""	""	"SZT2(NM_001365999.1):c.4122_4139del (p.(Gly1375_Glu1380del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973981"	"0"	"50"	"1"	"43898045"	"43898045"	"subst"	"0.000220721"	"01804"	"SZT2_000047"	"g.43898045G>A"	""	""	""	"SZT2(NM_001365999.1):c.5377G>A (p.(Glu1793Lys)), SZT2(NM_015284.3):c.5206G>A (p.E1736K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973982"	"0"	"50"	"1"	"43907176"	"43907176"	"subst"	"0.000200093"	"02325"	"HYI_000028"	"g.43907176C>T"	""	""	""	"SZT2(NM_015284.3):c.7342C>T (p.(Arg2448Cys)), SZT2(NM_015284.4):c.7342C>T (p.R2448C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973983"	"0"	"30"	"1"	"43912844"	"43912844"	"subst"	"0.000145778"	"01804"	"SZT2_000070"	"g.43912844G>A"	""	""	""	"SZT2(NM_001365999.1):c.9286+5G>A, SZT2(NM_015284.4):c.9115+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973984"	"0"	"50"	"1"	"43913225"	"43913225"	"subst"	"0"	"01804"	"HYI_000094"	"g.43913225A>G"	""	""	""	"SZT2(NM_001365999.1):c.9296A>G (p.(Glu3099Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991305"	"0"	"50"	"1"	"43870049"	"43870049"	"subst"	"0"	"01804"	"HYI_000095"	"g.43870049A>G"	""	""	""	"SZT2(NM_015284.3):c.328-2A>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991306"	"0"	"50"	"1"	"43888448"	"43888448"	"subst"	"9.49992E-6"	"01804"	"HYI_000096"	"g.43888448A>C"	""	""	""	"SZT2(NM_015284.3):c.1931A>C (p.(Asp644Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991307"	"0"	"50"	"1"	"43898737"	"43898737"	"subst"	"5.68611E-5"	"01804"	"HYI_000097"	"g.43898737C>T"	""	""	""	"SZT2(NM_015284.3):c.5509C>T (p.(Arg1837Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991308"	"0"	"30"	"1"	"43906177"	"43906177"	"subst"	"1.24257E-5"	"01804"	"HYI_000098"	"g.43906177A>G"	""	""	""	"SZT2(NM_015284.3):c.7093A>G (p.(Thr2365Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032063"	"0"	"50"	"1"	"43880870"	"43880870"	"subst"	"3.09578E-5"	"01804"	"HYI_000072"	"g.43880870G>A"	""	""	""	"SZT2(NM_001365999.1):c.616G>A (p.D206N, p.(Asp206Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032064"	"0"	"50"	"1"	"43885414"	"43885414"	"subst"	"0"	"01804"	"HYI_000099"	"g.43885414G>A"	""	""	""	"SZT2(NM_001365999.1):c.889G>A (p.(Val297Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032065"	"0"	"50"	"1"	"43885835"	"43885835"	"subst"	"3.53142E-5"	"01804"	"HYI_000100"	"g.43885835C>T"	""	""	""	"SZT2(NM_001365999.1):c.1102C>T (p.(Arg368Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032066"	"0"	"50"	"1"	"43892062"	"43892062"	"subst"	"0"	"01804"	"HYI_000101"	"g.43892062G>A"	""	""	""	"SZT2(NM_001365999.1):c.3067G>A (p.(Glu1023Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032067"	"0"	"50"	"1"	"43892155"	"43892155"	"subst"	"0"	"01804"	"HYI_000102"	"g.43892155G>A"	""	""	""	"SZT2(NM_001365999.1):c.3160G>A (p.(Val1054Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032068"	"0"	"50"	"1"	"43892182"	"43892182"	"subst"	"0"	"01804"	"HYI_000103"	"g.43892182G>T"	""	""	""	"SZT2(NM_001365999.1):c.3187G>T (p.(Val1063Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032069"	"0"	"50"	"1"	"43905119"	"43905119"	"dup"	"0"	"01804"	"HYI_000104"	"g.43905119dup"	""	""	""	"SZT2(NM_001365999.1):c.6877+6dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032070"	"0"	"30"	"1"	"43905450"	"43905450"	"subst"	"0"	"01804"	"HYI_000105"	"g.43905450C>T"	""	""	""	"SZT2(NM_001365999.1):c.7042+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001050086"	"0"	"50"	"1"	"43885517"	"43885517"	"subst"	"2.2029E-5"	"01804"	"HYI_000106"	"g.43885517C>T"	""	""	""	"SZT2(NM_001365999.1):c.992C>T (p.(Pro331Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050087"	"0"	"50"	"1"	"43890058"	"43890058"	"subst"	"4.36312E-6"	"01804"	"HYI_000048"	"g.43890058C>T"	""	""	""	"SZT2(NM_001365999.1):c.2426C>T (p.(Ala809Val)), SZT2(NM_015284.4):c.2426C>T (p.A809V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050088"	"0"	"50"	"1"	"43893914"	"43893914"	"subst"	"0"	"01804"	"HYI_000107"	"g.43893914T>C"	""	""	""	"SZT2(NM_001365999.1):c.3923T>C (p.(Leu1308Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050089"	"0"	"70"	"1"	"43897426"	"43897426"	"subst"	"0"	"01804"	"HYI_000108"	"g.43897426C>T"	""	""	""	"SZT2(NM_001365999.1):c.5128C>T (p.(Arg1710*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001050090"	"0"	"50"	"1"	"43907245"	"43907245"	"subst"	"0.000125935"	"01804"	"SZT2_000016"	"g.43907245C>T"	""	""	""	"SZT2(NM_001365999.1):c.7582C>T (p.R2528C, p.(Arg2528Cys)), SZT2(NM_015284.4):c.7411C>T (p.R2471C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001059234"	"0"	"90"	"1"	"43907445"	"43907445"	"del"	"0"	"00006"	"chr1_018351"	"g.43907445del"	""	"{PMID:Retterer 2016:26633542}"	""	"7527delC"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.43441774del"	""	"pathogenic"	""
"0001059235"	"0"	"90"	"1"	"43914060"	"43914060"	"subst"	"0"	"00006"	"chr1_018352"	"g.43914060C>T"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.43448389C>T"	""	"pathogenic"	""
"0001059236"	"0"	"90"	"1"	"43893282"	"43893285"	"del"	"0"	"00006"	"chr1_018353"	"g.43893282_43893285del"	""	"{PMID:Retterer 2016:26633542}"	""	"3509_3512delCAGA"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.43427611_43427614del"	""	"pathogenic"	""


## 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 SZT2
## Count = 226
"{{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}}"
"0000188120"	"00020680"	"00"	"2625"	"0"	"2625"	"0"	"c.2625C>G"	"r.(?)"	"p.(His875Gln)"	""
"0000188133"	"00020680"	"00"	"7795"	"0"	"7795"	"0"	"c.7795del"	"r.(?)"	"p.(Asp2599Thrfs*7)"	""
"0000188139"	"00020680"	"00"	"4727"	"0"	"4727"	"0"	"c.4727C>T"	"r.(?)"	"p.(Ser1576Leu)"	""
"0000188148"	"00020680"	"00"	"2824"	"0"	"2824"	"0"	"c.2824C>T"	"r.(?)"	"p.(Arg942Trp)"	""
"0000188160"	"00020680"	"00"	"8809"	"0"	"8809"	"0"	"c.8809A>G"	"r.(?)"	"p.(Met2937Val)"	""
"0000188170"	"00020680"	"00"	"5734"	"0"	"5734"	"0"	"c.5734C>T"	"r.(?)"	"p.(Arg1912*)"	""
"0000188180"	"00020680"	"00"	"8153"	"0"	"8153"	"0"	"c.8153G>A"	"r.(?)"	"p.(Arg2718His)"	""
"0000188210"	"00020680"	"00"	"9802"	"0"	"9802"	"0"	"c.9802del"	"r.(?)"	"p.(Cys3268Alafs*5)"	""
"0000188213"	"00020680"	"00"	"6890"	"0"	"6890"	"0"	"c.6890G>A"	"r.(?)"	"p.(Arg2297Gln)"	""
"0000188258"	"00020680"	"00"	"7411"	"0"	"7411"	"0"	"c.7411C>T"	"r.(?)"	"p.(Arg2471Cys)"	""
"0000188262"	"00020680"	"00"	"401"	"0"	"401"	"0"	"c.401G>A"	"r.(?)"	"p.(Arg134Gln)"	""
"0000188282"	"00020680"	"00"	"8698"	"0"	"8698"	"0"	"c.8698C>T"	"r.(?)"	"p.(Arg2900*)"	""
"0000188315"	"00020680"	"00"	"8531"	"0"	"8531"	"0"	"c.8531C>T"	"r.(?)"	"p.(Pro2844Leu)"	""
"0000188326"	"00020680"	"00"	"9080"	"0"	"9080"	"0"	"c.9080A>G"	"r.(?)"	"p.(Asp3027Gly)"	""
"0000188330"	"00020680"	"00"	"8540"	"0"	"8540"	"0"	"c.8540G>C"	"r.(?)"	"p.(Arg2847Pro)"	""
"0000188335"	"00020680"	"00"	"2812"	"0"	"2812"	"0"	"c.2812G>A"	"r.(?)"	"p.(Ala938Thr)"	""
"0000188339"	"00020680"	"00"	"5767"	"0"	"5767"	"0"	"c.5767G>A"	"r.(?)"	"p.(Val1923Met)"	""
"0000188374"	"00020680"	"00"	"8768"	"0"	"8768"	"0"	"c.8768C>T"	"r.(?)"	"p.(Thr2923Ile)"	""
"0000188422"	"00020680"	"00"	"4994"	"0"	"4994"	"0"	"c.4994G>A"	"r.(?)"	"p.(Arg1665His)"	""
"0000188428"	"00020680"	"00"	"105"	"0"	"105"	"0"	"c.105C>G"	"r.(?)"	"p.(Phe35Leu)"	""
"0000188454"	"00020680"	"00"	"8084"	"0"	"8084"	"0"	"c.8084G>A"	"r.(?)"	"p.(Arg2695His)"	""
"0000188457"	"00020680"	"00"	"5174"	"0"	"5174"	"0"	"c.5174C>T"	"r.(?)"	"p.(Ala1725Val)"	""
"0000188462"	"00020680"	"00"	"5174"	"0"	"5174"	"0"	"c.5174C>T"	"r.(?)"	"p.(Ala1725Val)"	""
"0000188479"	"00020680"	"00"	"4727"	"0"	"4727"	"0"	"c.4727C>T"	"r.(?)"	"p.(Ser1576Leu)"	""
"0000188497"	"00020680"	"00"	"8531"	"0"	"8531"	"0"	"c.8531C>T"	"r.(?)"	"p.(Pro2844Leu)"	""
"0000188512"	"00020680"	"00"	"3964"	"0"	"3964"	"0"	"c.3964C>T"	"r.(?)"	"p.(Arg1322Trp)"	""
"0000188519"	"00020680"	"00"	"5344"	"0"	"5344"	"0"	"c.5344C>T"	"r.(?)"	"p.(Arg1782Cys)"	""
"0000188532"	"00020680"	"00"	"8632"	"0"	"8632"	"0"	"c.8632C>T"	"r.(?)"	"p.(Arg2878Trp)"	""
"0000188539"	"00020680"	"00"	"6941"	"0"	"6941"	"0"	"c.6941A>T"	"r.(?)"	"p.(Glu2314Val)"	""
"0000188542"	"00020680"	"00"	"3806"	"0"	"3806"	"0"	"c.3806C>T"	"r.(?)"	"p.(Ala1269Val)"	""
"0000188546"	"00020680"	"00"	"7716"	"0"	"7716"	"0"	"c.7716G>A"	"r.(?)"	"p.(Met2572Ile)"	""
"0000236487"	"00020680"	"90"	"841"	"0"	"841"	"0"	"c.841del"	"r.(?)"	"p.(Gln281Serfs*32)"	"7"
"0000236488"	"00020680"	"50"	"6553"	"0"	"6553"	"0"	"c.6553C>T"	"r.(?)"	"p.(Arg2185Trp)"	""
"0000251227"	"00020680"	"10"	"6621"	"15"	"6621"	"15"	"c.6621+15A>C"	"r.(=)"	"p.(=)"	""
"0000252022"	"00020680"	"30"	"3262"	"14"	"3262"	"14"	"c.3262+14A>G"	"r.(=)"	"p.(=)"	""
"0000252023"	"00020680"	"30"	"7173"	"9"	"7173"	"9"	"c.7173+9A>G"	"r.(=)"	"p.(=)"	""
"0000252024"	"00020680"	"30"	"7703"	"-9"	"7703"	"-9"	"c.7703-9A>C"	"r.(=)"	"p.(=)"	""
"0000252025"	"00020680"	"30"	"8328"	"8"	"8328"	"8"	"c.8328+8A>C"	"r.(=)"	"p.(=)"	""
"0000254666"	"00020680"	"30"	"6372"	"0"	"6372"	"0"	"c.6372A>G"	"r.(?)"	"p.(Leu2124=)"	""
"0000311685"	"00020680"	"50"	"7130"	"0"	"7130"	"0"	"c.7130C>T"	"r.(?)"	"p.(Thr2377Ile)"	""
"0000314338"	"00020680"	"30"	"1262"	"-14"	"1262"	"-14"	"c.1262-14C>T"	"r.(=)"	"p.(=)"	""
"0000314339"	"00020680"	"30"	"2472"	"-14"	"2472"	"-14"	"c.2472-14T>A"	"r.(=)"	"p.(=)"	""
"0000314340"	"00020680"	"10"	"2550"	"5"	"2550"	"5"	"c.2550+5G>T"	"r.spl?"	"p.?"	""
"0000314341"	"00020680"	"10"	"2578"	"0"	"2578"	"0"	"c.2578G>A"	"r.(?)"	"p.(Glu860Lys)"	""
"0000314342"	"00020680"	"30"	"3138"	"9"	"3138"	"9"	"c.3138+9C>T"	"r.(=)"	"p.(=)"	""
"0000314343"	"00020680"	"30"	"327"	"7"	"327"	"7"	"c.327+7G>T"	"r.(=)"	"p.(=)"	""
"0000314344"	"00020680"	"30"	"4360"	"0"	"4360"	"0"	"c.4360G>A"	"r.(?)"	"p.(Val1454Ile)"	""
"0000314345"	"00020680"	"10"	"5027"	"0"	"5027"	"0"	"c.5027G>A"	"r.(?)"	"p.(Arg1676His)"	""
"0000314346"	"00020680"	"30"	"5364"	"0"	"5364"	"0"	"c.5364T>G"	"r.(?)"	"p.(Ser1788Arg)"	""
"0000314347"	"00020680"	"50"	"5407"	"0"	"5407"	"0"	"c.5407G>A"	"r.(?)"	"p.(Gly1803Ser)"	""
"0000314348"	"00020680"	"30"	"5518"	"0"	"5518"	"0"	"c.5518C>T"	"r.(?)"	"p.(Pro1840Ser)"	""
"0000314349"	"00020680"	"30"	"603"	"0"	"603"	"0"	"c.603G>A"	"r.(?)"	"p.(Leu201=)"	""
"0000314350"	"00020680"	"30"	"6225"	"11"	"6225"	"11"	"c.6225+11C>T"	"r.(=)"	"p.(=)"	""
"0000314352"	"00020680"	"30"	"6402"	"0"	"6402"	"0"	"c.6402C>T"	"r.(?)"	"p.(Asp2134=)"	""
"0000314353"	"00020680"	"30"	"7040"	"-13"	"7040"	"-13"	"c.7040-13C>G"	"r.(=)"	"p.(=)"	""
"0000314354"	"00020680"	"30"	"7053"	"0"	"7053"	"0"	"c.7053C>T"	"r.(?)"	"p.(Asn2351=)"	""
"0000314355"	"00020680"	"30"	"7085"	"0"	"7085"	"0"	"c.7085G>A"	"r.(?)"	"p.(Arg2362Gln)"	""
"0000314356"	"00020680"	"10"	"7341"	"-3"	"7341"	"-3"	"c.7341-3C>T"	"r.spl?"	"p.?"	""
"0000314357"	"00020680"	"30"	"7391"	"0"	"7391"	"0"	"c.7391T>C"	"r.(?)"	"p.(Val2464Ala)"	""
"0000314358"	"00020680"	"30"	"7402"	"0"	"7402"	"0"	"c.7402G>A"	"r.(?)"	"p.(Val2468Ile)"	""
"0000314359"	"00020680"	"30"	"7411"	"0"	"7411"	"0"	"c.7411C>T"	"r.(?)"	"p.(Arg2471Cys)"	""
"0000314360"	"00020680"	"30"	"7804"	"-10"	"7804"	"-10"	"c.7804-10C>T"	"r.(=)"	"p.(=)"	""
"0000314361"	"00020680"	"30"	"8084"	"0"	"8084"	"0"	"c.8084G>A"	"r.(?)"	"p.(Arg2695His)"	""
"0000314362"	"00020680"	"30"	"9115"	"5"	"9115"	"5"	"c.9115+5G>A"	"r.spl?"	"p.?"	""
"0000314363"	"00020680"	"30"	"9270"	"-12"	"9270"	"-12"	"c.9270-12C>T"	"r.(=)"	"p.(=)"	""
"0000316177"	"00020680"	"50"	"1651"	"0"	"1651"	"0"	"c.1651T>A"	"r.(?)"	"p.(Ser551Thr)"	""
"0000316178"	"00020680"	"90"	"1669"	"0"	"1669"	"0"	"c.1669del"	"r.(?)"	"p.(Gln557SerfsTer28)"	""
"0000316179"	"00020680"	"30"	"1791"	"0"	"1791"	"0"	"c.1791C>T"	"r.(?)"	"p.(His597=)"	""
"0000316180"	"00020680"	"30"	"3138"	"9"	"3138"	"9"	"c.3138+9C>T"	"r.(=)"	"p.(=)"	""
"0000316181"	"00020680"	"50"	"317"	"0"	"317"	"0"	"c.317C>T"	"r.(?)"	"p.(Thr106Ile)"	""
"0000316182"	"00020680"	"30"	"5206"	"0"	"5206"	"0"	"c.5206G>A"	"r.(?)"	"p.(Glu1736Lys)"	""
"0000316183"	"00020680"	"30"	"5660"	"0"	"5660"	"0"	"c.5660C>T"	"r.(?)"	"p.(Pro1887Leu)"	""
"0000316184"	"00020680"	"30"	"7537"	"0"	"7537"	"0"	"c.7537G>A"	"r.(?)"	"p.(Gly2513Arg)"	""
"0000316185"	"00020680"	"10"	"759"	"0"	"759"	"0"	"c.759G>A"	"r.(?)"	"p.(Ser253=)"	""
"0000316186"	"00020680"	"30"	"8145"	"0"	"8145"	"0"	"c.8145G>A"	"r.(?)"	"p.(Thr2715=)"	""
"0000320768"	"00020680"	"50"	"-3312"	"0"	"-3312"	"0"	"c.-3312C>T"	"r.(?)"	"p.(=)"	""
"0000320772"	"00020680"	"50"	"11578"	"0"	"11578"	"0"	"c.*1450C>T"	"r.(=)"	"p.(=)"	""
"0000320773"	"00020680"	"50"	"13043"	"0"	"13043"	"0"	"c.*2915C>T"	"r.(=)"	"p.(=)"	""
"0000341983"	"00020680"	"50"	"4646"	"0"	"4646"	"0"	"c.4646G>A"	"r.(?)"	"p.(Arg1549Gln)"	""
"0000342228"	"00020680"	"50"	"6278"	"0"	"6278"	"0"	"c.6278G>A"	"r.(?)"	"p.(Arg2093His)"	""
"0000400800"	"00020680"	"70"	"1045"	"0"	"1045"	"0"	"c.1045del"	"r.(?)"	"p.(Ser349Profs*9)"	""
"0000400801"	"00020680"	"70"	"1891"	"0"	"1891"	"0"	"c.1891G>A"	"r.(?)"	"p.(Glu631Lys)"	""
"0000507541"	"00020680"	"30"	"327"	"7"	"327"	"7"	"c.327+7G>T"	"r.(=)"	"p.(=)"	""
"0000507543"	"00020680"	"90"	"1305"	"0"	"1306"	"0"	"c.1305_1306del"	"r.(?)"	"p.(His435GlnfsTer5)"	""
"0000507545"	"00020680"	"30"	"2025"	"0"	"2025"	"0"	"c.2025G>A"	"r.(?)"	"p.(Pro675=)"	""
"0000507546"	"00020680"	"30"	"2550"	"5"	"2550"	"5"	"c.2550+5G>A"	"r.spl?"	"p.?"	""
"0000507548"	"00020680"	"30"	"2578"	"0"	"2578"	"0"	"c.2578G>A"	"r.(?)"	"p.(Glu860Lys)"	""
"0000507549"	"00020680"	"30"	"2631"	"0"	"2631"	"0"	"c.2631C>T"	"r.(?)"	"p.(Thr877=)"	""
"0000507550"	"00020680"	"50"	"2774"	"0"	"2774"	"0"	"c.2774A>T"	"r.(?)"	"p.(Lys925Met)"	""
"0000507551"	"00020680"	"30"	"2887"	"0"	"2887"	"0"	"c.2887A>G"	"r.(?)"	"p.(Lys963Glu)"	""
"0000507552"	"00020680"	"30"	"2929"	"9"	"2929"	"9"	"c.2929+9G>A"	"r.(=)"	"p.(=)"	""
"0000507553"	"00020680"	"10"	"3096"	"0"	"3096"	"0"	"c.3096C>T"	"r.(?)"	"p.(Val1032=)"	""
"0000507555"	"00020680"	"50"	"3184"	"0"	"3184"	"0"	"c.3184C>G"	"r.(?)"	"p.(Pro1062Ala)"	""
"0000507556"	"00020680"	"30"	"4005"	"0"	"4005"	"0"	"c.4005C>T"	"r.(?)"	"p.(Thr1335=)"	""
"0000507557"	"00020680"	"30"	"4727"	"0"	"4727"	"0"	"c.4727C>T"	"r.(?)"	"p.(Ser1576Leu)"	""
"0000507558"	"00020680"	"30"	"4904"	"0"	"4904"	"0"	"c.4904C>T"	"r.(?)"	"p.(Thr1635Ile)"	""
"0000507561"	"00020680"	"90"	"5734"	"0"	"5734"	"0"	"c.5734C>T"	"r.(?)"	"p.(Arg1912Ter)"	""
"0000507563"	"00020680"	"30"	"6221"	"0"	"6221"	"0"	"c.6221C>G"	"r.(?)"	"p.(Ala2074Gly)"	""
"0000507564"	"00020680"	"30"	"6226"	"-14"	"6226"	"-14"	"c.6226-14A>C"	"r.(=)"	"p.(=)"	""
"0000507565"	"00020680"	"30"	"6337"	"14"	"6337"	"14"	"c.6337+14dup"	"r.(=)"	"p.(=)"	""
"0000507566"	"00020680"	"30"	"6402"	"0"	"6402"	"0"	"c.6402C>T"	"r.(?)"	"p.(Asp2134=)"	""
"0000507567"	"00020680"	"30"	"6411"	"0"	"6411"	"0"	"c.6411A>G"	"r.(?)"	"p.(Thr2137=)"	""
"0000507568"	"00020680"	"50"	"6650"	"0"	"6650"	"0"	"c.6650C>G"	"r.(?)"	"p.(Pro2217Arg)"	""
"0000507569"	"00020680"	"30"	"6790"	"0"	"6790"	"0"	"c.6790C>T"	"r.(?)"	"p.(Pro2264Ser)"	""
"0000507570"	"00020680"	"50"	"7130"	"0"	"7130"	"0"	"c.7130C>G"	"r.(?)"	"p.(Thr2377Ser)"	""
"0000507571"	"00020680"	"30"	"7303"	"0"	"7303"	"0"	"c.7303C>T"	"r.(?)"	"p.(Arg2435Trp)"	""
"0000507572"	"00020680"	"30"	"7342"	"0"	"7342"	"0"	"c.7342C>T"	"r.(?)"	"p.(Arg2448Cys)"	""
"0000507574"	"00020680"	"10"	"7849"	"0"	"7849"	"0"	"c.7849T>C"	"r.(?)"	"p.(Leu2617=)"	""
"0000507575"	"00020680"	"30"	"8006"	"0"	"8006"	"0"	"c.8006C>G"	"r.(?)"	"p.(Thr2669Ser)"	""
"0000507576"	"00020680"	"30"	"8145"	"0"	"8145"	"0"	"c.8145G>A"	"r.(?)"	"p.(Thr2715=)"	""
"0000507577"	"00020680"	"30"	"8384"	"0"	"8384"	"0"	"c.8384C>G"	"r.(?)"	"p.(Thr2795Arg)"	""
"0000507578"	"00020680"	"30"	"8531"	"0"	"8531"	"0"	"c.8531C>T"	"r.(?)"	"p.(Pro2844Leu)"	""
"0000507580"	"00020680"	"30"	"8531"	"0"	"8531"	"0"	"c.8531C>T"	"r.(?)"	"p.(Pro2844Leu)"	""
"0000507581"	"00020680"	"30"	"8640"	"0"	"8640"	"0"	"c.8640C>A"	"r.(?)"	"p.(Pro2880=)"	""
"0000507583"	"00020680"	"50"	"9337"	"0"	"9340"	"0"	"c.9337_9340del"	"r.(?)"	"p.(Cys3113ThrfsTer70)"	""
"0000507584"	"00020680"	"30"	"9458"	"0"	"9458"	"0"	"c.9458G>A"	"r.(?)"	"p.(Arg3153His)"	""
"0000507585"	"00020680"	"30"	"9552"	"0"	"9552"	"0"	"c.9552G>A"	"r.(?)"	"p.(Ala3184=)"	""
"0000507586"	"00020680"	"30"	"9552"	"0"	"9552"	"0"	"c.9552G>A"	"r.(?)"	"p.(Ala3184=)"	""
"0000507587"	"00020680"	"50"	"9611"	"0"	"9611"	"0"	"c.9611G>A"	"r.(?)"	"p.(Arg3204Gln)"	""
"0000507588"	"00020680"	"30"	"9611"	"0"	"9611"	"0"	"c.9611G>A"	"r.(?)"	"p.(Arg3204Gln)"	""
"0000507589"	"00020680"	"50"	"9628"	"0"	"9628"	"0"	"c.9628C>T"	"r.(?)"	"p.(Arg3210Trp)"	""
"0000507590"	"00020680"	"30"	"10022"	"0"	"10022"	"0"	"c.10022A>C"	"r.(?)"	"p.(Gln3341Pro)"	""
"0000507594"	"00020680"	"30"	"13058"	"0"	"13058"	"0"	"c.*2930T>C"	"r.(=)"	"p.(=)"	""
"0000605777"	"00020680"	"30"	"642"	"0"	"642"	"0"	"c.642G>T"	"r.(?)"	"p.(Gln214His)"	""
"0000605778"	"00020680"	"30"	"1488"	"0"	"1488"	"0"	"c.1488G>A"	"r.(?)"	"p.(Thr496=)"	""
"0000605779"	"00020680"	"30"	"1488"	"0"	"1488"	"0"	"c.1488G>T"	"r.(?)"	"p.(Thr496=)"	""
"0000605780"	"00020680"	"30"	"2253"	"0"	"2253"	"0"	"c.2253C>T"	"r.(?)"	"p.(Ile751=)"	""
"0000605781"	"00020680"	"50"	"2426"	"0"	"2426"	"0"	"c.2426C>T"	"r.(?)"	"p.(Ala809Val)"	""
"0000605782"	"00020680"	"30"	"2950"	"0"	"2950"	"0"	"c.2950A>G"	"r.(?)"	"p.(Thr984Ala)"	""
"0000605783"	"00020680"	"30"	"2955"	"0"	"2955"	"0"	"c.2955C>T"	"r.(?)"	"p.(Cys985=)"	""
"0000605784"	"00020680"	"30"	"4138"	"-5"	"4138"	"-5"	"c.4138-5A>C"	"r.spl?"	"p.?"	""
"0000605785"	"00020680"	"50"	"4369"	"0"	"4369"	"0"	"c.4369C>T"	"r.(?)"	"p.(Arg1457Trp)"	""
"0000605786"	"00020680"	"50"	"4721"	"0"	"4721"	"0"	"c.4721C>T"	"r.(?)"	"p.(Thr1574Met)"	""
"0000605787"	"00020680"	"30"	"4812"	"0"	"4812"	"0"	"c.4812T>C"	"r.(?)"	"p.(Asp1604=)"	""
"0000605788"	"00020680"	"30"	"7638"	"0"	"7638"	"0"	"c.7638A>C"	"r.(?)"	"p.(Ala2546=)"	""
"0000605789"	"00020680"	"50"	"7640"	"0"	"7641"	"0"	"c.7640_7641insCC"	"r.(?)"	"p.(Glu2548LeufsTer49)"	""
"0000605790"	"00020680"	"30"	"7641"	"0"	"7641"	"0"	"c.7641T>A"	"r.(?)"	"p.(Ala2547=)"	""
"0000605791"	"00020680"	"30"	"7860"	"0"	"7860"	"0"	"c.7860G>A"	"r.(?)"	"p.(Ala2620=)"	""
"0000605792"	"00020680"	"30"	"9121"	"0"	"9121"	"0"	"c.9121T>C"	"r.(?)"	"p.(Leu3041=)"	""
"0000647704"	"00020680"	"10"	"2578"	"0"	"2578"	"0"	"c.2578G>A"	"r.(?)"	"p.(Glu860Lys)"	""
"0000647705"	"00020680"	"10"	"5027"	"0"	"5027"	"0"	"c.5027G>A"	"r.(?)"	"p.(Arg1676His)"	""
"0000647706"	"00020680"	"10"	"5214"	"0"	"5214"	"0"	"c.5214T>G"	"r.(=)"	"p.(=)"	""
"0000647707"	"00020680"	"10"	"6717"	"0"	"6717"	"0"	"c.6717C>T"	"r.(=)"	"p.(=)"	""
"0000654044"	"00020680"	"30"	"3044"	"-183"	"3044"	"-183"	"c.3044-183G>A"	"r.(=)"	"p.(=)"	""
"0000654045"	"00020680"	"30"	"5174"	"0"	"5174"	"0"	"c.5174C>T"	"r.(?)"	"p.(Ala1725Val)"	""
"0000654046"	"00020680"	"30"	"9269"	"12"	"9269"	"12"	"c.9269+12del"	"r.(=)"	"p.(=)"	""
"0000669022"	"00020680"	"10"	"2578"	"0"	"2578"	"0"	"c.2578G>A"	"r.(?)"	"p.(Glu860Lys)"	""
"0000669023"	"00020680"	"10"	"5214"	"0"	"5214"	"0"	"c.5214T>G"	"r.(=)"	"p.(=)"	""
"0000669024"	"00020680"	"10"	"6717"	"0"	"6717"	"0"	"c.6717C>T"	"r.(=)"	"p.(=)"	""
"0000675857"	"00020680"	"30"	"1791"	"0"	"1791"	"0"	"c.1791C>T"	"r.(?)"	"p.(His597=)"	""
"0000675858"	"00020680"	"30"	"3298"	"0"	"3298"	"0"	"c.3298C>T"	"r.(?)"	"p.(Pro1100Ser)"	""
"0000675859"	"00020680"	"30"	"4727"	"0"	"4727"	"0"	"c.4727C>T"	"r.(?)"	"p.(Ser1576Leu)"	""
"0000675860"	"00020680"	"30"	"6338"	"-12"	"6338"	"-12"	"c.6338-12G>C"	"r.(=)"	"p.(=)"	""
"0000675861"	"00020680"	"30"	"6621"	"12"	"6621"	"12"	"c.6621+12C>T"	"r.(=)"	"p.(=)"	""
"0000675862"	"00020680"	"30"	"6862"	"0"	"6862"	"0"	"c.6862A>G"	"r.(?)"	"p.(Ser2288Gly)"	""
"0000675863"	"00020680"	"30"	"7053"	"0"	"7053"	"0"	"c.7053C>T"	"r.(?)"	"p.(Asn2351=)"	""
"0000675864"	"00020680"	"30"	"8016"	"0"	"8016"	"0"	"c.8016G>C"	"r.(?)"	"p.(Val2672=)"	""
"0000675865"	"00020680"	"50"	"8089"	"0"	"8089"	"0"	"c.8089G>A"	"r.(?)"	"p.(Gly2697Arg)"	""
"0000675866"	"00020680"	"30"	"9552"	"0"	"9552"	"0"	"c.9552G>A"	"r.(?)"	"p.(Ala3184=)"	""
"0000688181"	"00020680"	"50"	"457"	"0"	"457"	"0"	"c.457A>G"	"r.(?)"	"p.(Ile153Val)"	""
"0000688182"	"00020680"	"50"	"8513"	"0"	"8513"	"0"	"c.8513C>T"	"r.(?)"	"p.(Ser2838Phe)"	""
"0000688183"	"00020680"	"50"	"10069"	"0"	"10069"	"0"	"c.10069C>T"	"r.(?)"	"p.(His3357Tyr)"	""
"0000688184"	"00020680"	"50"	"13046"	"0"	"13046"	"0"	"c.*2918A>C"	"r.(=)"	"p.(=)"	""
"0000710204"	"00020680"	"90"	"1496"	"2"	"1496"	"2"	"c.1496+2T>C"	"r.spl?"	"p.?"	""
"0000710210"	"00020680"	"90"	"9055"	"0"	"9055"	"0"	"c.9055C>T"	"r.(?)"	"p.(Arg3019*)"	""
"0000717504"	"00020680"	"50"	"616"	"0"	"616"	"0"	"c.616G>A"	"r.(?)"	"p.(Asp206Asn)"	""
"0000717505"	"00020680"	"50"	"1613"	"0"	"1613"	"0"	"c.1613G>C"	"r.(?)"	"p.(Gly538Ala)"	""
"0000717506"	"00020680"	"50"	"2029"	"0"	"2029"	"0"	"c.2029C>T"	"r.(?)"	"p.(Arg677Trp)"	""
"0000717507"	"00020680"	"50"	"2528"	"0"	"2528"	"0"	"c.2528T>C"	"r.(?)"	"p.(Met843Thr)"	""
"0000717508"	"00020680"	"30"	"2955"	"0"	"2955"	"0"	"c.2955C>T"	"r.(?)"	"p.(Cys985=)"	""
"0000717509"	"00020680"	"30"	"4880"	"0"	"4880"	"0"	"c.4880C>T"	"r.(?)"	"p.(Thr1627Met)"	""
"0000717510"	"00020680"	"50"	"5705"	"0"	"5705"	"0"	"c.5705T>C"	"r.(?)"	"p.(Val1902Ala)"	""
"0000717511"	"00020680"	"50"	"7303"	"0"	"7303"	"0"	"c.7303C>T"	"r.(?)"	"p.(Arg2435Trp)"	""
"0000717512"	"00020680"	"30"	"7980"	"11"	"7980"	"11"	"c.7980+11C>T"	"r.(=)"	"p.(=)"	""
"0000717513"	"00020680"	"50"	"8084"	"0"	"8084"	"0"	"c.8084G>A"	"r.(?)"	"p.(Arg2695His)"	""
"0000717514"	"00020680"	"50"	"8890"	"0"	"8890"	"0"	"c.8890G>A"	"r.(?)"	"p.(Val2964Ile)"	""
"0000717515"	"00020680"	"30"	"9384"	"0"	"9384"	"0"	"c.9384C>T"	"r.(?)"	"p.(His3128=)"	""
"0000795629"	"00020680"	"70"	"7341"	"-2"	"7341"	"-2"	"c.7341-2A>G"	"r.spl"	"p.(?)"	""
"0000799374"	"00020680"	"50"	"2372"	"0"	"2372"	"0"	"c.2372G>A"	"r.(?)"	"p.(Arg791His)"	""
"0000799375"	"00020680"	"30"	"7980"	"8"	"7980"	"8"	"c.7980+8C>A"	"r.(=)"	"p.(=)"	""
"0000799376"	"00020680"	"30"	"7980"	"9"	"7980"	"9"	"c.7980+9T>G"	"r.(=)"	"p.(=)"	""
"0000799377"	"00020680"	"30"	"9384"	"0"	"9384"	"0"	"c.9384C>T"	"r.(?)"	"p.(His3128=)"	""
"0000848744"	"00020680"	"30"	"1770"	"-11"	"1770"	"-11"	"c.1770-11C>T"	"r.(=)"	"p.(=)"	""
"0000848745"	"00020680"	"30"	"1943"	"0"	"1943"	"0"	"c.1943A>G"	"r.(?)"	"p.(Asn648Ser)"	""
"0000848746"	"00020680"	"30"	"5469"	"0"	"5469"	"0"	"c.5469T>C"	"r.(?)"	"p.(Gly1823=)"	""
"0000848747"	"00020680"	"50"	"7411"	"0"	"7411"	"0"	"c.7411C>T"	"r.(?)"	"p.(Arg2471Cys)"	""
"0000857504"	"00020680"	"30"	"3911"	"0"	"3911"	"0"	"c.3911G>C"	"r.(?)"	"p.(Gly1304Ala)"	""
"0000857505"	"00020680"	"30"	"7307"	"0"	"7307"	"0"	"c.7307C>T"	"r.(?)"	"p.(Ala2436Val)"	""
"0000883465"	"00020680"	"50"	"2518"	"0"	"2518"	"0"	"c.2518A>G"	"r.(?)"	"p.(Ile840Val)"	""
"0000909293"	"00020680"	"50"	"5183"	"0"	"5183"	"0"	"c.5183A>G"	"r.(?)"	"p.(Gln1728Arg)"	""
"0000936269"	"00020680"	"50"	"6841"	"0"	"6841"	"0"	"c.6841C>T"	"r.(?)"	"p.(Arg2281Cys)"	""
"0000936492"	"00020680"	"90"	"8488"	"0"	"8488"	"0"	"c.8488C>T"	"r.(?)"	"p.(Arg2830*)"	""
"0000936493"	"00020680"	"70"	"6958"	"0"	"6958"	"0"	"c.6958G>C"	"r.(?)"	"p.(Ala2320Pro)"	""
"0000952300"	"00020680"	"50"	"3390"	"0"	"3390"	"0"	"c.3390G>T"	"r.(?)"	"p.(Lys1130Asn)"	""
"0000952305"	"00020680"	"50"	"3390"	"0"	"3390"	"0"	"c.3390G>T"	"r.(?)"	"p.(Lys1130Asn)"	""
"0000973974"	"00020680"	"30"	"28"	"-5"	"28"	"-5"	"c.28-5C>G"	"r.spl?"	"p.?"	""
"0000973975"	"00020680"	"30"	"759"	"0"	"759"	"0"	"c.759G>A"	"r.(?)"	"p.(Ser253=)"	""
"0000973976"	"00020680"	"50"	"2029"	"0"	"2029"	"0"	"c.2029C>T"	"r.(?)"	"p.(Arg677Trp)"	""
"0000973977"	"00020680"	"50"	"2253"	"0"	"2253"	"0"	"c.2253C>T"	"r.(?)"	"p.(Ile751=)"	""
"0000973978"	"00020680"	"30"	"3043"	"213"	"3043"	"213"	"c.3043+213G>T"	"r.(=)"	"p.(=)"	""
"0000973979"	"00020680"	"50"	"3756"	"0"	"3756"	"0"	"c.3756C>G"	"r.(?)"	"p.(Phe1252Leu)"	""
"0000973980"	"00020680"	"50"	"3951"	"0"	"3968"	"0"	"c.3951_3968del"	"r.(?)"	"p.(Gly1318_Glu1323del)"	""
"0000973981"	"00020680"	"50"	"5206"	"0"	"5206"	"0"	"c.5206G>A"	"r.(?)"	"p.(Glu1736Lys)"	""
"0000973982"	"00020680"	"50"	"7342"	"0"	"7342"	"0"	"c.7342C>T"	"r.(?)"	"p.(Arg2448Cys)"	""
"0000973983"	"00020680"	"30"	"9115"	"5"	"9115"	"5"	"c.9115+5G>A"	"r.spl?"	"p.?"	""
"0000973984"	"00020680"	"50"	"9125"	"0"	"9125"	"0"	"c.9125A>G"	"r.(?)"	"p.(Glu3042Gly)"	""
"0000991305"	"00020680"	"50"	"328"	"-2"	"328"	"-2"	"c.328-2A>G"	"r.spl?"	"p.?"	""
"0000991306"	"00020680"	"50"	"1931"	"0"	"1931"	"0"	"c.1931A>C"	"r.(?)"	"p.(Asp644Ala)"	""
"0000991307"	"00020680"	"50"	"5509"	"0"	"5509"	"0"	"c.5509C>T"	"r.(?)"	"p.(Arg1837Trp)"	""
"0000991308"	"00020680"	"30"	"7093"	"0"	"7093"	"0"	"c.7093A>G"	"r.(?)"	"p.(Thr2365Ala)"	""
"0001032063"	"00020680"	"50"	"616"	"0"	"616"	"0"	"c.616G>A"	"r.(?)"	"p.(Asp206Asn)"	""
"0001032064"	"00020680"	"50"	"889"	"0"	"889"	"0"	"c.889G>A"	"r.(?)"	"p.(Val297Ile)"	""
"0001032065"	"00020680"	"50"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(?)"	"p.(Arg368Cys)"	""
"0001032066"	"00020680"	"50"	"3043"	"240"	"3043"	"240"	"c.3043+240G>A"	"r.(=)"	"p.(=)"	""
"0001032067"	"00020680"	"50"	"3044"	"-231"	"3044"	"-231"	"c.3044-231G>A"	"r.(=)"	"p.(=)"	""
"0001032068"	"00020680"	"50"	"3044"	"-204"	"3044"	"-204"	"c.3044-204G>T"	"r.(=)"	"p.(=)"	""
"0001032069"	"00020680"	"50"	"6706"	"6"	"6706"	"6"	"c.6706+6dup"	"r.(=)"	"p.(=)"	""
"0001032070"	"00020680"	"30"	"6871"	"10"	"6871"	"10"	"c.6871+10C>T"	"r.(=)"	"p.(=)"	""
"0001050086"	"00020680"	"50"	"992"	"0"	"992"	"0"	"c.992C>T"	"r.(?)"	"p.(Pro331Leu)"	""
"0001050087"	"00020680"	"50"	"2426"	"0"	"2426"	"0"	"c.2426C>T"	"r.(?)"	"p.(Ala809Val)"	""
"0001050088"	"00020680"	"50"	"3752"	"0"	"3752"	"0"	"c.3752T>C"	"r.(?)"	"p.(Leu1251Pro)"	""
"0001050089"	"00020680"	"70"	"4957"	"0"	"4957"	"0"	"c.4957C>T"	"r.(?)"	"p.(Arg1653*)"	""
"0001050090"	"00020680"	"50"	"7411"	"0"	"7411"	"0"	"c.7411C>T"	"r.(?)"	"p.(Arg2471Cys)"	""
"0001059234"	"00020680"	"90"	"7527"	"0"	"7527"	"0"	"c.7527del"	"r.(?)"	"p.(Ser2510GlnfsTer86)"	""
"0001059235"	"00020680"	"90"	"9703"	"0"	"9703"	"0"	"c.9703C>T"	"r.(?)"	"p.(Arg3235Ter)"	""
"0001059236"	"00020680"	"90"	"3509"	"0"	"3512"	"0"	"c.3509_3512del"	"r.(?)"	"p.(Thr1170ArgfsTer22)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 54
"{{screeningid}}"	"{{variantid}}"
"0000117265"	"0000188519"
"0000117275"	"0000188120"
"0000117288"	"0000188133"
"0000117294"	"0000188139"
"0000117303"	"0000188148"
"0000117311"	"0000188454"
"0000117315"	"0000188160"
"0000117315"	"0000188457"
"0000117325"	"0000188170"
"0000117335"	"0000188180"
"0000117350"	"0000188462"
"0000117365"	"0000188210"
"0000117368"	"0000188213"
"0000117409"	"0000188479"
"0000117413"	"0000188258"
"0000117417"	"0000188262"
"0000117437"	"0000188282"
"0000117454"	"0000188497"
"0000117470"	"0000188315"
"0000117481"	"0000188326"
"0000117485"	"0000188330"
"0000117501"	"0000188512"
"0000117505"	"0000188335"
"0000117509"	"0000188339"
"0000117535"	"0000188374"
"0000117539"	"0000188532"
"0000117562"	"0000188539"
"0000117571"	"0000188542"
"0000117577"	"0000188422"
"0000117578"	"0000188546"
"0000117581"	"0000188428"
"0000145374"	"0000236487"
"0000145374"	"0000236488"
"0000177921"	"0000400800"
"0000177921"	"0000400801"
"0000291015"	"0000647704"
"0000291016"	"0000647705"
"0000291017"	"0000647706"
"0000291018"	"0000647707"
"0000305334"	"0000669022"
"0000305335"	"0000669023"
"0000305336"	"0000669024"
"0000326619"	"0000710204"
"0000326619"	"0000710210"
"0000381995"	"0000795629"
"0000429691"	"0000909293"
"0000440111"	"0000936269"
"0000440114"	"0000936492"
"0000440114"	"0000936493"
"0000445368"	"0000952300"
"0000445369"	"0000952305"
"0000471112"	"0001059234"
"0000471113"	"0001059235"
"0000471114"	"0001059236"