### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ADAMTSL4)
# 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}}"
"ADAMTSL4"	"ADAMTS-like 4"	"1"	"q21.2"	"unknown"	"NG_012172.1"	"UD_132118584750"	""	"https://www.LOVD.nl/ADAMTSL4"	""	"1"	"19706"	"54507"	"610113"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/ADAMTSL4_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2011-07-07 00:00:00"	"00006"	"2020-11-11 15:07:33"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00002111"	"ADAMTSL4"	"transcript variant 1"	"001"	"NM_019032.4"	""	"NP_061905.2"	""	""	""	"-236"	"3966"	"3225"	"150521898"	"150533413"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"01764"	"ECTOL2"	"ectopia lentis, isolated autosomal recessive, type 2 (ECTOL2)"	"AR"	"225100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-11 15:06:27"
"01765"	"-"	"ectopia lentis et pupillae"	"AR"	"225200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-11 15:07:01"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ADAMTSL4"	"01764"
"ADAMTSL4"	"01765"


## Individuals ## Do not remove or alter this header ##
## Count = 79
"{{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}}"
"00088068"	""	""	""	"2"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00088069"	""	""	""	"4"	""	"01164"	""	"4 families, 5 Patients / father and mother heterozygous carriers"	"M"	"?"	"Germany"	""	"0"	""	""	""	""
"00088070"	""	""	""	"4"	""	"01164"	""	"4 families, 5 Patients / parents are heterozygous carriers of mutation"	"F"	"?"	"Germany"	""	"0"	""	""	""	""
"00088071"	""	""	""	"5"	""	"01164"	""	"4 families, 5 Patients / no other signs of marfan-syndrome"	"F"	"?"	"Germany"	""	"0"	""	""	""	""
"00088072"	""	""	""	"1"	""	"01164"	""	"Two sisters and two nephews diagnosed with Ectopia lentis, the family is consanguine"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00088073"	""	""	""	"1"	""	"01164"	""	"1 family, 2 affected children (brother also affected)"	"F"	"?"	"Turkey"	""	"0"	""	""	""	""
"00088074"	""	""	""	"1"	""	"01164"	""	"1 family, 1 affected child"	"M"	"?"	""	""	"0"	""	""	""	""
"00088075"	""	""	""	"1"	""	"01164"	""	"1 family, 1 affected child"	"M"	"no"	"Germany"	""	"0"	""	""	""	""
"00088076"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	""
"00088077"	""	""	""	"1"	""	"01164"	""	"Consanguine parents"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00088078"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"Germany"	""	"0"	""	""	""	""
"00088084"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"Germany"	""	"0"	""	""	"german"	""
"00088118"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088119"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088120"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088121"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088122"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088123"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088124"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088125"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088126"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088127"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088128"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088129"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088130"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088131"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088132"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088133"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088134"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088135"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088136"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088137"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088138"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088139"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00088140"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00104714"	""	""	""	"1"	""	"01233"	""	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"P1"
"00104715"	""	""	""	"1"	""	"01233"	""	""	"M"	"yes"	"Netherlands"	""	"0"	""	""	""	"P2"
"00104716"	""	""	""	"1"	""	"01233"	""	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"P3"
"00104717"	""	""	""	"1"	""	"01233"	""	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"P4"
"00104718"	""	""	""	"1"	""	"01233"	""	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"P5"
"00104719"	""	""	""	"1"	""	"01233"	""	""	"F"	"no"	"France"	""	"0"	""	""	""	"P6"
"00104720"	""	""	""	"1"	""	"01233"	""	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"P7"
"00104721"	""	""	""	"1"	""	"01233"	""	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	"P8"
"00104722"	""	""	""	"1"	""	"01233"	""	""	"F"	"yes"	"Morocco"	""	"0"	""	""	""	"P9"
"00207722"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207725"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207726"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207727"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207728"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207729"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207730"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207731"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207733"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207734"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207735"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207736"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00207737"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207738"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207739"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207740"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207741"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00207742"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00289519"	""	""	""	"25"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289520"	""	""	""	"15"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295236"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00385455"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"13008723"
"00385457"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"14000821"
"00385469"	""	""	""	"1"	""	"00000"	"{PMID:Lenassi 2020:31848469}"	"retrospective analysis"	"F"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"15004571"
"00406452"	""	""	""	"1"	"cc_by_4.0;1"	"04101"	""	""	"F"	"no"	"China"	""	""	""	""	"Chinese"	"EENT-ADL4-001"
"00406454"	""	""	""	"1"	""	"04101"	""	""	"F"	""	"China"	""	""	""	""	"Chinese"	"EENT-ADL4-002"
"00406455"	""	""	""	"1"	""	"04101"	""	""	"M"	"no"	"China"	""	""	""	""	"Chinese"	"EENT-ADL4-003"
"00406456"	""	""	""	"1"	""	"04101"	""	""	"F"	"yes"	"China"	""	""	""	""	"Chinese"	"EENT-ADL4-004"
"00406457"	""	""	""	"1"	""	"04101"	""	""	"M"	"no"	"China"	""	""	""	""	"Chinese"	"EENT-ADL4-005"
"00406458"	""	""	""	"1"	""	"04101"	""	""	"M"	""	"China"	""	""	""	""	""	"EENT-ADL4-006"
"00406459"	""	""	""	"1"	""	"04101"	""	""	"M"	""	"China"	""	""	""	""	""	"EENT-ADL4-007"
"00406460"	""	""	""	"1"	""	"04101"	""	""	"F"	""	"China"	""	""	""	""	""	"EENT-ADL4-008"
"00406461"	""	""	""	"1"	""	"04101"	""	""	"M"	""	"China"	""	""	""	""	""	"EENT-ADL4-009"
"00434090"	""	""	""	"1"	""	"00006"	"{PMID:Li 2016:27307692}"	""	""	""	"China"	""	"0"	""	""	""	"patients"
"00446522"	""	""	""	"3"	""	"00006"	"{PMID:Liu 2023:37337769}"	"2-generation family, 1 affected, unaffected carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Fam127Pat337"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 38
"{{individualid}}"	"{{diseaseid}}"
"00088068"	"01764"
"00088069"	"01764"
"00088070"	"01764"
"00088071"	"01764"
"00088072"	"01764"
"00088073"	"01764"
"00088074"	"01764"
"00088075"	"01764"
"00088076"	"01764"
"00088077"	"01764"
"00088078"	"01764"
"00088084"	"01764"
"00104714"	"01764"
"00104715"	"01765"
"00104716"	"01765"
"00104717"	"01764"
"00104718"	"01765"
"00104719"	"01765"
"00104720"	"01764"
"00104721"	"01764"
"00104722"	"01765"
"00289519"	"00198"
"00289520"	"00198"
"00295236"	"00198"
"00385455"	"04214"
"00385457"	"04214"
"00385469"	"04214"
"00406452"	"01764"
"00406454"	"01765"
"00406455"	"01764"
"00406456"	"01764"
"00406457"	"01764"
"00406458"	"01764"
"00406459"	"01764"
"00406460"	"01765"
"00406461"	"01764"
"00434090"	"00296"
"00446522"	"00296"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 01764, 01765, 04214
## Count = 43
"{{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}}"
"0000067574"	"01764"	"00088068"	"01164"	"Familial"	""	"Suspected marfan syndrome,ectopia lentis, parents show no symptoms,"	"34y"	""	""	""	""	""	""	""	""	""	""
"0000067575"	"01764"	"00088069"	"01164"	"Familial"	""	"Ectopia lentis"	"3y"	"3y"	""	""	""	""	""	""	""	""	""
"0000067576"	"01764"	"00088070"	"01164"	"Familial"	""	"Ectopia lentis"	""	"26"	""	""	""	""	""	""	""	""	""
"0000067577"	"01764"	"00088071"	"01164"	"Familial"	""	"Ectopia lentis at age 3y"	"3y"	"3y"	""	""	""	""	""	""	""	""	""
"0000067578"	"01764"	"00088072"	"01164"	"Familial"	""	"Ectopia lentis congenita"	"1y"	""	""	""	""	""	""	""	""	""	""
"0000067579"	"01764"	"00088073"	"01164"	"Familial"	""	"Ectopia lentis on both eyes"	""	"5"	""	""	""	""	""	""	""	""	""
"0000067580"	"01764"	"00088074"	"01164"	"Unknown"	""	"Bilateral dislocated lenses"	""	"16"	""	""	""	""	""	""	""	""	""
"0000067581"	"01764"	"00088075"	"01164"	"Familial"	""	"Ectopia lentis bilateral"	"4y"	""	""	""	""	""	""	""	""	""	""
"0000067582"	"01764"	"00088076"	"01164"	"Unknown"	""	"Ectopia lentis- / craniosynostisis syndrome"	""	"12"	""	""	""	""	""	""	""	""	""
"0000067583"	"01764"	"00088077"	"01164"	"Unknown"	""	"Ectopia lentis"	""	"32"	""	""	""	""	""	""	""	""	""
"0000067584"	"01764"	"00088078"	"01164"	"Unknown"	""	"Ectopia lentis left side, macrosomia but no marfanoid habitus"	""	"2y"	""	""	""	""	""	""	""	""	""
"0000067590"	"01764"	"00088084"	"01164"	"Unknown"	""	"ectopia lentis, cerebral aneurysm"	"45y"	"49"	""	""	""	""	""	""	""	""	""
"0000155512"	"00198"	"00207722"	"01164"	"Unknown"	""	"HP:0001083 (Ectopia lentis); HP:0000517 (Abnormality of the lens)"	""	""	""	""	""	""	""	""	""	""	""
"0000155514"	"00198"	"00207725"	"01164"	"Unknown"	""	"HP:0004308 (Ventricular arrhythmia); HP:0001083 (Ectopia lentis)"	""	""	""	""	""	""	""	""	""	""	""
"0000155515"	"00198"	"00207726"	"01164"	"Unknown"	""	"HP:0000615 (Abnormality of the pupil); HP:0000278 (Retrognathia); HP:0000218 (High palate); HP:0000272 (Malar flattening); HP:0000490 (Deeply set eye); HP:0000494 (Downslanted palpebral fissures); HP:0001083 (Ectopia lentis)"	""	""	""	""	""	""	""	""	""	""	""
"0000155516"	"00198"	"00207727"	"01164"	"Unknown"	""	"HP:0001083 (Ectopia lentis); HP:0012019 (Lens luxation)"	""	""	""	""	""	""	""	""	""	""	""
"0000155517"	"00198"	"00207728"	"01164"	"Unknown"	""	"HP:0001083 (Ectopia lentis)"	""	""	""	""	""	""	""	""	""	""	""
"0000155518"	"00198"	"00207729"	"01164"	"Unknown"	""	"HP:0001263 (Global developmental delay); HP:0001083 (Ectopia lentis)"	""	""	""	""	""	""	""	""	""	""	""
"0000155519"	"00198"	"00207730"	"01164"	"Unknown"	""	"HP:0003549 (Abnormality of connective tissue); HP:0001382 (Joint hypermobility); HP:0011842 (Abnormality of skeletal morphology)"	""	""	""	""	""	""	""	""	""	""	""
"0000155520"	"00198"	"00207731"	"01164"	"Unknown"	""	"HP:0011021 (Abnormality of circulating enzyme level); HP:0003236 (Elevated serum creatine phosphokinase)"	""	""	""	""	""	""	""	""	""	""	""
"0000155523"	"00198"	"00207733"	"01164"	"Unknown"	""	"HP:0003508 (Proportionate short stature); HP:0009778 (Short thumb)"	""	""	""	""	""	""	""	""	""	""	""
"0000155524"	"00198"	"00207734"	"01164"	"Unknown"	""	"HP:0000637 (Long palpebral fissure); HP:0001212 (Prominent fingertip pads); HP:0000252 (Microcephaly); HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""
"0000155525"	"00198"	"00207735"	"01164"	"Unknown"	""	"HP:0002313 (Spastic paraparesis); HP:0001761 (Pes cavus); HP:0009027 (Foot dorsiflexor weakness)"	""	""	""	""	""	""	""	""	""	""	""
"0000155526"	"00198"	"00207736"	"01164"	"Unknown"	""	"HP:0001263 (Global developmental delay); HP:0000252 (Microcephaly)"	""	""	""	""	""	""	""	""	""	""	""
"0000155527"	"00198"	"00207737"	"01164"	"Unknown"	""	"HP:0011342 (Mild global developmental delay); HP:0001252 (Muscular hypotonia)"	""	""	""	""	""	""	""	""	""	""	""
"0000155528"	"00198"	"00207738"	"01164"	"Unknown"	""	"HP:0002383 (Encephalitis); HP:0011450 (CNS infection); HP:0000256 (Macrocephaly)"	""	""	""	""	""	""	""	""	""	""	""
"0000155529"	"00198"	"00207739"	"01164"	"Unknown"	""	"HP:0001250 (Seizures)"	""	""	""	""	""	""	""	""	""	""	""
"0000155530"	"00198"	"00207740"	"01164"	"Unknown"	""	"HP:0000519 (Congenital cataract); HP:0000486 (Strabismus); HP:0012122 (Anterior uveitis)"	""	""	""	""	""	""	""	""	""	""	""
"0000155531"	"00198"	"00207741"	"01164"	"Unknown"	""	"HP:0002486 (Myotonia); HP:0003390 (Sensory axonal neuropathy); HP:0100546 (Carotid artery stenosis); HP:0005315 (Occlusive arterial disease); HP:0000819 (Diabetes mellitus); HP:0004610 (Lumbar spinal canal stenosis); HP:0005110 (Atrial fibrillation)"	""	""	""	""	""	""	""	""	""	""	""
"0000155532"	"00198"	"00207742"	"01164"	"Unknown"	""	"HP:0002486 (Myotonia)"	""	""	""	""	""	""	""	""	""	""	""
"0000279250"	"04214"	"00385455"	"00000"	"Familial, autosomal recessive"	""	""	"5y"	""	""	""	""	""	""	""	"bilateral ectopia lentis (n=8)"	"ectopia lentis"	""
"0000279252"	"04214"	"00385457"	"00000"	"Familial, autosomal recessive"	""	""	"1y"	""	""	""	""	""	""	""	"bilateral ectopia lentis (n=8)"	"ectopia lentis et pupillae"	""
"0000279264"	"04214"	"00385469"	"00000"	"Familial, autosomal recessive"	""	""	"<1y"	""	""	""	""	""	""	""	""	"congenital cataracts"	""
"0000298939"	"01764"	"00406452"	"04101"	"Isolated (sporadic)"	"03y"	"ectopia lentis\r\npersistent pupillary membrane\r\npoor pupil dilation"	""	"03y"	""	""	""	""	""	""	""	""	""
"0000298940"	"01765"	"00406454"	"04101"	"Isolated (sporadic)"	"11y"	"ectopia lentis\r\nectopia pupillae\r\nmicrospherophakia"	""	"04y"	""	""	""	""	""	""	""	""	""
"0000298941"	"01764"	"00406455"	"04101"	"Isolated (sporadic)"	"05y"	"ectopia lentis"	""	"03y"	""	""	""	""	""	""	""	""	""
"0000298942"	"01764"	"00406456"	"04101"	"Isolated (sporadic)"	"29y"	"persisitent pupillary membrane\r\ncataract"	""	"09y"	""	""	""	""	""	""	""	""	""
"0000298943"	"01764"	"00406457"	"04101"	"Isolated (sporadic)"	"07y"	"persistent pupillary membrane\r\ncataract"	""	"06y"	""	""	""	""	""	""	""	""	""
"0000298944"	"01764"	"00406458"	"04101"	"Isolated (sporadic)"	"08y"	"persistent pupillary membrane"	""	"04y"	""	""	""	""	""	""	""	""	""
"0000298945"	"01764"	"00406459"	"04101"	"Isolated (sporadic)"	"37y"	"ectopia lentis\r\nmicropherophakia"	""	"36y"	""	""	""	""	""	""	""	""	""
"0000298946"	"01764"	"00406460"	"04101"	"Isolated (sporadic)"	"04y"	"ectopia pupillae\r\nmicrospherophakia"	""	"02y"	""	""	""	""	""	""	""	""	""
"0000298947"	"01764"	"00406461"	"04101"	"Isolated (sporadic)"	"04y"	""	""	"03y"	""	""	""	""	""	""	""	""	""
"0000335735"	"00296"	"00446522"	"00006"	"Familial, autosomal recessive"	""	"bilateral congenital cataract"	""	""	""	""	""	""	""	""	""	"congenital catarct"	""


## Screenings ## Do not remove or alter this header ##
## Count = 79
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000088208"	"00088068"	"1"	"01164"	"01164"	"2014-10-13 16:47:09"	""	""	"SEQ"	"DNA"	""	""
"0000088209"	"00088069"	"1"	"01164"	"01164"	"2014-10-13 16:54:12"	"01164"	"2014-10-13 16:55:45"	"SEQ"	"DNA"	""	""
"0000088210"	"00088070"	"1"	"01164"	"01164"	"2014-10-13 17:01:51"	""	""	"SEQ"	"DNA"	""	""
"0000088211"	"00088071"	"1"	"01164"	"01164"	"2014-10-13 17:06:28"	""	""	"SEQ"	"DNA"	""	""
"0000088212"	"00088072"	"1"	"01164"	"01164"	"2014-10-14 11:38:39"	""	""	"SEQ"	"DNA"	""	""
"0000088213"	"00088073"	"1"	"01164"	"01164"	"2014-10-14 12:01:59"	""	""	"SEQ"	"DNA"	""	""
"0000088214"	"00088074"	"1"	"01164"	"01164"	"2014-10-14 12:12:43"	""	""	"SEQ"	"DNA"	""	""
"0000088215"	"00088075"	"1"	"01164"	"01164"	"2014-10-14 13:40:43"	"01164"	"2014-10-14 13:54:43"	"SEQ"	"DNA"	""	""
"0000088216"	"00088076"	"1"	"01164"	"01164"	"2014-10-14 14:03:06"	""	""	"SEQ"	"DNA"	""	""
"0000088217"	"00088077"	"1"	"01164"	"01164"	"2014-10-14 14:17:31"	""	""	"SEQ"	"DNA"	""	""
"0000088218"	"00088078"	"1"	"01164"	"01164"	"2014-10-15 10:02:39"	""	""	"SEQ"	"DNA"	""	""
"0000088224"	"00088084"	"1"	"01164"	"01164"	"2016-06-06 16:40:21"	"01164"	"2016-06-06 16:44:56"	"SEQ"	"DNA;RNA"	""	""
"0000088258"	"00088118"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088259"	"00088119"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088260"	"00088120"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088261"	"00088121"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088262"	"00088122"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088263"	"00088123"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088264"	"00088124"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088265"	"00088125"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088266"	"00088126"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088267"	"00088127"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088268"	"00088128"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088269"	"00088129"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088270"	"00088130"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088271"	"00088131"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088272"	"00088132"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088273"	"00088133"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088274"	"00088134"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088275"	"00088135"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088276"	"00088136"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088277"	"00088137"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088278"	"00088138"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088279"	"00088139"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000088280"	"00088140"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000105188"	"00104714"	"1"	"01233"	"01233"	"2017-05-22 23:00:54"	"01233"	"2017-05-22 23:24:39"	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105189"	"00104715"	"1"	"01233"	"01233"	"2017-05-22 23:29:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105190"	"00104716"	"1"	"01233"	"01233"	"2017-05-22 23:36:26"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105191"	"00104717"	"1"	"01233"	"01233"	"2017-05-22 23:41:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105192"	"00104718"	"1"	"01233"	"01233"	"2017-05-22 23:48:07"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105193"	"00104719"	"1"	"01233"	"01233"	"2017-05-22 23:53:21"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105194"	"00104720"	"1"	"01233"	"01233"	"2017-05-22 23:58:13"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105195"	"00104721"	"1"	"01233"	"01233"	"2017-05-23 00:03:46"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000105196"	"00104722"	"1"	"01233"	"01233"	"2017-05-23 00:07:45"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000208763"	"00207722"	"1"	"01164"	"01164"	"2018-11-30 13:07:55"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208765"	"00207725"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208766"	"00207726"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208767"	"00207727"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208768"	"00207728"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208769"	"00207729"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208770"	"00207730"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208771"	"00207731"	"1"	"01164"	"01164"	"2018-11-30 13:18:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208773"	"00207733"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208774"	"00207734"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208775"	"00207735"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208776"	"00207736"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208777"	"00207737"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208778"	"00207738"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208779"	"00207739"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208780"	"00207740"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208781"	"00207741"	"1"	"01164"	"01164"	"2018-11-30 13:59:04"	""	""	"SEQ-NG"	"DNA"	""	""
"0000208782"	"00207742"	"1"	"01164"	"01164"	"2018-11-30 14:02:11"	""	""	"SEQ-NG"	"DNA"	""	""
"0000290687"	"00289519"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290688"	"00289520"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296404"	"00295236"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000386684"	"00385455"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000386686"	"00385457"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000386698"	"00385469"	"1"	"00000"	"03840"	"2021-10-12 17:40:23"	""	""	"SEQ-NG"	"DNA"	"blood"	"114 genes panel tested"
"0000407694"	"00406452"	"1"	"04101"	"04101"	"2022-03-30 17:09:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407696"	"00406454"	"1"	"04101"	"04101"	"2022-03-31 08:01:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407698"	"00406455"	"1"	"04101"	"04101"	"2022-03-31 08:11:28"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407699"	"00406456"	"1"	"04101"	"04101"	"2022-03-31 08:16:37"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407700"	"00406457"	"1"	"04101"	"04101"	"2022-03-31 08:23:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407701"	"00406458"	"1"	"04101"	"04101"	"2022-03-31 08:37:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407702"	"00406459"	"1"	"04101"	"04101"	"2022-03-31 08:42:31"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407703"	"00406460"	"1"	"04101"	"04101"	"2022-03-31 08:52:50"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000407704"	"00406461"	"1"	"04101"	"04101"	"2022-03-31 08:56:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"gene panel"
"0000435557"	"00434090"	"1"	"00006"	"00006"	"2023-03-19 16:52:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000448095"	"00446522"	"1"	"00006"	"00006"	"2024-01-17 16:49:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"792 gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 56
"{{screeningid}}"	"{{geneid}}"
"0000088208"	"ADAMTSL4"
"0000088209"	"ADAMTSL4"
"0000088210"	"ADAMTSL4"
"0000088211"	"ADAMTSL4"
"0000088212"	"ADAMTSL4"
"0000088213"	"ADAMTSL4"
"0000088214"	"ADAMTSL4"
"0000088215"	"ADAMTSL4"
"0000088216"	"ADAMTSL4"
"0000088217"	"ADAMTSL4"
"0000088218"	"ADAMTSL4"
"0000088224"	"ADAMTSL4"
"0000088258"	"ADAMTSL4"
"0000088259"	"ADAMTSL4"
"0000088260"	"ADAMTSL4"
"0000088261"	"ADAMTSL4"
"0000088262"	"ADAMTSL4"
"0000088263"	"ADAMTSL4"
"0000088264"	"ADAMTSL4"
"0000088265"	"ADAMTSL4"
"0000088266"	"ADAMTSL4"
"0000088267"	"ADAMTSL4"
"0000088268"	"ADAMTSL4"
"0000088269"	"ADAMTSL4"
"0000088270"	"ADAMTSL4"
"0000088271"	"ADAMTSL4"
"0000088272"	"ADAMTSL4"
"0000088273"	"ADAMTSL4"
"0000088274"	"ADAMTSL4"
"0000088275"	"ADAMTSL4"
"0000088276"	"ADAMTSL4"
"0000088277"	"ADAMTSL4"
"0000088278"	"ADAMTSL4"
"0000088279"	"ADAMTSL4"
"0000088280"	"ADAMTSL4"
"0000105188"	"ADAMTSL4"
"0000105189"	"ADAMTSL4"
"0000105190"	"ADAMTSL4"
"0000105191"	"ADAMTSL4"
"0000105192"	"ADAMTSL4"
"0000105193"	"ADAMTSL4"
"0000105194"	"ADAMTSL4"
"0000105195"	"ADAMTSL4"
"0000105196"	"ADAMTSL4"
"0000386684"	"ADAMTSL4"
"0000386686"	"ADAMTSL4"
"0000386698"	"ADAMTSL4"
"0000407694"	"ADAMTSL4"
"0000407696"	"ADAMTSL4"
"0000407698"	"ADAMTSL4"
"0000407699"	"ADAMTSL4"
"0000407700"	"ADAMTSL4"
"0000407701"	"ADAMTSL4"
"0000407702"	"ADAMTSL4"
"0000407703"	"ADAMTSL4"
"0000407704"	"ADAMTSL4"


## 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 = 210
"{{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}}"
"0000140589"	"0"	"50"	"1"	"150525425"	"150525425"	"subst"	"0.0292339"	"01164"	"ADAMTSL4_000013"	"g.150525425G>A"	"MAF A=0,0156/34"	""	""	""	""	"Unknown"	""	"rs41317513"	"0"	""	""	"g.150552949G>A"	""	"VUS"	""
"0000140590"	"0"	"99"	"1"	"150525431"	"150525431"	"subst"	"0"	"01164"	"ADAMTSL4_000016"	"g.150525431G>A"	""	""	""	""	"cDNA analysis on PAX-RNA and lymphocyte culture +/- puromycin confirmed complex splicing aberration, cryptic SD and SA site is used r.134_344del. RNA stable, no NMD detecte in RNA prepared without puromycin and in PAX-RNA"	"Unknown"	""	""	"0"	""	""	"g.150552955G>A"	""	"pathogenic"	""
"0000140591"	"0"	"11"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"01164"	"ADAMTSL4_000003"	"g.150526044G>C"	"MAF G=0.4431/964"	""	""	""	"Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29)"	"Unknown"	""	"rs41317515"	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000140592"	"3"	"11"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"01164"	"ADAMTSL4_000003"	"g.150526044G>C"	"MAF G=0.4431/964"	""	""	""	"Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29)"	"Unknown"	""	"rs41317515"	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000140593"	"0"	"11"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"01164"	"ADAMTSL4_000003"	"g.150526044G>C"	"MAF G=0.4431/964"	""	""	""	"Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29)"	"Unknown"	""	"rs41317515"	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000140594"	"3"	"11"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"01164"	"ADAMTSL4_000003"	"g.150526044G>C"	"MAF G=0.4431/964"	""	""	""	"Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29)"	"Unknown"	""	"rs41317515"	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000140595"	"0"	"11"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"01164"	"ADAMTSL4_000003"	"g.150526044G>C"	"MAF G=0.4431/964"	""	""	""	"Not conserved nucleotide (phyloP: -0.92 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Small physicochemical difference between Ala and Pro (Grantham dist.: 27 [0-215]) Align GVGD: C0 (GV: 353.86 - GD: 0.00)SIFT: Tolerated (score: 0.29)"	"Unknown"	""	"rs41317515"	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000140596"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Neuhann 2011:21051722}"	""	"c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38)"	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000140597"	"0"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Neuhann 2011:21051722}"	""	"c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38)"	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000140598"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Neuhann 2011:21051722}"	""	"c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38)"	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000140599"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Neuhann 2011:21051722}"	""	"c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38)"	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000140600"	"0"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Neuhann 2011:21051722}"	""	"c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38)"	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000140601"	"0"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	"mgz-muenchen-al"	"c.767_786delAGGCCTCTGGCACAGAGCCC; p.(Gln256ProfsX38)"	"Foundermutation (Neuhann  (2011) Invest Ophthalmol Vis Sci 52: 695)"	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000140602"	"0"	"97"	"1"	"150526311"	"150526311"	"subst"	"4.06375E-6"	"01164"	"ADAMTSL4_000009"	"g.150526311C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553835C>T"	""	"pathogenic"	""
"0000140603"	"0"	"33"	"1"	"150526393"	"150526393"	"subst"	"0.0313387"	"01164"	"ADAMTSL4_000012"	"g.150526393G>A"	"MAF A 0,039/84"	""	""	""	"Patient has 2 probably pathogenic mutations in ADAMTSL4"	"Unknown"	""	"rs76075180"	"0"	""	""	"g.150553917G>A"	""	"likely benign"	""
"0000140604"	"0"	"11"	"1"	"150526406"	"150526406"	"subst"	"0.295352"	"01164"	"ADAMTSL4_000004"	"g.150526406C>T"	"MAF T = 0.367/79"	""	""	""	""	"Unknown"	""	"rs6681639"	"0"	""	""	"g.150553930C>T"	""	"benign"	""
"0000140605"	"3"	"11"	"1"	"150526406"	"150526406"	"subst"	"0.295352"	"01164"	"ADAMTSL4_000004"	"g.150526406C>T"	"MAF T = 0.367/79"	""	""	""	""	"Unknown"	""	"rs6681639"	"0"	""	""	"g.150553930C>T"	""	"benign"	""
"0000140606"	"0"	"11"	"1"	"150526406"	"150526406"	"subst"	"0.295352"	"01164"	"ADAMTSL4_000004"	"g.150526406C>T"	"MAF T = 0.367/79"	""	""	""	""	"Unknown"	""	"rs6681639"	"0"	""	""	"g.150553930C>T"	""	"benign"	""
"0000140607"	"0"	"11"	"1"	"150526406"	"150526406"	"subst"	"0.295352"	"01164"	"ADAMTSL4_000004"	"g.150526406C>T"	"MAF T = 0.367/79"	""	""	""	""	"Unknown"	""	"rs6681639"	"0"	""	""	"g.150553930C>T"	""	"benign"	""
"0000140608"	"0"	"30"	"1"	"150526474"	"150526474"	"subst"	"0.00202729"	"01164"	"ADAMTSL4_000002"	"g.150526474G>A"	"MAF A=0.0018/4"	""	""	""	"Not conserved nucleotide (phyloP: -0.52 [-14.1;6.4])Weakly conserved amino acid (considering 9 species)Moderate physicochemical difference between Gly and Asp (Grantham dist.: 94 [0-215])\t\tAlign GVGD: C0 (GV: 114.13 - GD: 0.00)SIFT: Tolerated (score: 1)"	"Unknown"	""	"rs142354320"	"0"	""	""	"g.150553998G>A"	""	"likely benign"	""
"0000140609"	"0"	"50"	"1"	"150530548"	"150530548"	"subst"	"0.0189818"	"01164"	"ADAMTSL4_000015"	"g.150530548C>G"	"MAF G = 0.012/27"	""	""	""	"Highly conserved nucleotide (phyloP: 5.21 [-14.1;6.4])Highly conserved amino acid, up to Opossum (considering 9 species)Small physicochemical difference between Leu and Val (Grantham dist.: 32 [0-215])This variation is in protein domain: Thrombospondin, type 1 repeat; PolyPhen-2 HumVar PSIC 0,99; Align GVGD: C25 (GV: 0.00 - GD: 30.92)SIFT: Deleterious (score: 0)"	"Unknown"	""	"rs56228576"	"0"	""	""	"g.150558072C>G"	""	"VUS"	""
"0000140610"	"3"	"97"	"1"	"150526871"	"150526871"	"dup"	"0"	"01164"	"ADAMTSL4_000007"	"g.150526871dup"	""	""	""	"c.1162dupG"	""	"In vitro (cloned)"	""	""	"0"	""	""	"g.150554395dup"	""	"NA"	""
"0000140611"	"11"	"70"	"1"	"150529439"	"150529439"	"subst"	"0"	"01164"	"ADAMTSL4_000011"	"g.150529439G>A"	""	""	""	""	"in combination with pathogenic mutation c.2594G>A; p.(Arg865His)"	"Germline"	""	""	"0"	""	""	"g.150556963G>A"	""	"likely pathogenic"	""
"0000140612"	"3"	"70"	"1"	"150530480"	"150530480"	"subst"	"1.66221E-5"	"01164"	"ADAMTSL4_000014"	"g.150530480G>A"	""	""	""	""	"PolyPhen-2: PSIC 0,98; Highly conserved nucleotide (phyloP: 5.29 [-14.1;6.4])Highly conserved amino acid, up to Opossum (considering 9 species)Small physicochemical difference between Arg and His (Grantham dist.: 29 [0-215])This variation is in protein domain: Thrombospondin, type 1 repeatAlign GVGD: C25 (GV: 0.00 - GD: 28.82)SIFT: Deleterious (score: 0)"	"Unknown"	""	""	"0"	""	""	"g.150558004G>A"	""	"likely pathogenic"	""
"0000140613"	"3"	"11"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"01164"	"ADAMTSL4_000008"	"g.150531008T>C"	"MAF T=0.1561/340"	""	""	""	""	"Germline"	""	"rs10888382"	"0"	""	""	"g.150558532T>C"	""	"benign"	""
"0000140614"	"0"	"11"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"01164"	"ADAMTSL4_000008"	"g.150531008T>C"	"MAF T=0.1561/340"	""	""	""	""	"Germline"	""	"rs10888382"	"0"	""	""	"g.150558532T>C"	""	"benign"	""
"0000140615"	"3"	"11"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"01164"	"ADAMTSL4_000008"	"g.150531008T>C"	"MAF T=0.1561/340"	""	""	""	""	"Germline"	""	"rs10888382"	"0"	""	""	"g.150558532T>C"	""	"benign"	""
"0000140616"	"0"	"11"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"01164"	"ADAMTSL4_000008"	"g.150531008T>C"	"MAF T=0.1561/340"	""	""	""	""	"Germline"	""	"rs10888382"	"0"	""	""	"g.150558532T>C"	""	"benign"	""
"0000140617"	"3"	"11"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"01164"	"ADAMTSL4_000005"	"g.150531050G>A"	"MAF G=0.1180/256"	""	""	""	""	"Unknown"	""	"rs10749657"	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000140618"	"3"	"11"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"01164"	"ADAMTSL4_000005"	"g.150531050G>A"	"MAF G=0.1180/256"	""	""	""	""	"Unknown"	""	"rs10749657"	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000140619"	"0"	"11"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"01164"	"ADAMTSL4_000005"	"g.150531050G>A"	"MAF G=0.1180/256"	""	""	""	""	"Unknown"	""	"rs10749657"	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000140620"	"3"	"11"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"01164"	"ADAMTSL4_000005"	"g.150531050G>A"	"MAF G=0.1180/256"	""	""	""	""	"Unknown"	""	"rs10749657"	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000140621"	"0"	"11"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"01164"	"ADAMTSL4_000005"	"g.150531050G>A"	"MAF G=0.1180/256"	""	""	""	""	"Unknown"	""	"rs10749657"	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000140622"	"3"	"13"	"1"	"150531170"	"150531170"	"subst"	"0.981371"	"01164"	"ADAMTSL4_000006"	"g.150531170C>T"	"MAF C=0.0647/141"	""	""	""	"no change in splice site usage compared to WT (in silico analysis MaxEntScan + SSFL + NNSplice + GeneSplicer + HSF)"	"Unknown"	""	"rs10749658"	"0"	""	""	"g.150558694C>T"	""	"benign"	""
"0000140623"	"3"	"11"	"1"	"150531170"	"150531170"	"subst"	"0.981371"	"01164"	"ADAMTSL4_000006"	"g.150531170C>T"	"MAF C=0.0647/141"	""	""	""	"no change in splice site usage compared to WT (in silico analysis MaxEntScan + SSFL + NNSplice + GeneSplicer + HSF)"	"Unknown"	""	"rs10749658"	"0"	""	""	"g.150558694C>T"	""	"benign"	""
"0000140624"	"21"	"90"	"1"	"150531472"	"150531472"	"subst"	"0.000113336"	"01164"	"ADAMTSL4_000010"	"g.150531472G>A"	""	""	""	""	"Highly conserved nucleotide (phyloP: 5.61 [-14.1;6.4])Highly conserved amino acid, up to Opossum (considering 9 species)Small physicochemical difference between Arg and His (Grantham dist.: 29 [0-215])This variation is in protein domain: Thrombospondin, type 1 repeatAlign GVGD: C25 (GV: 0.00 - GD: 28.82)SIFT: Deleterious (score: 0)"	"Germline"	""	""	"0"	""	""	"g.150558996G>A"	""	"pathogenic"	""
"0000141590"	"1"	"10"	"1"	"150526474"	"150526474"	"subst"	"0.00202729"	"01164"	"ADAMTSL4_000002"	"g.150526474G>A"	""	""	""	""	""	"Germline"	""	"rs142354320"	"0"	""	""	"g.150553998G>A"	""	"benign"	""
"0000141591"	"1"	"10"	"1"	"150526787"	"150526787"	"subst"	"0"	"01164"	"ADAMTSL4_000024"	"g.150526787C>A"	""	""	""	""	""	"Germline"	""	"rs4131523"	"0"	""	""	"g.150554311C>A"	""	"benign"	""
"0000141592"	"1"	"90"	"1"	"150526871"	"150526871"	"dup"	"0"	"01164"	"ADAMTSL4_000007"	"g.150526871dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150554395dup"	""	"pathogenic"	""
"0000141593"	"1"	"10"	"1"	"150525425"	"150525425"	"subst"	"0.0292339"	"01164"	"ADAMTSL4_000013"	"g.150525425G>A"	""	""	""	""	""	"Germline"	""	"rs41317513"	"0"	""	""	"g.150552949G>A"	""	"benign"	""
"0000141594"	"1"	"10"	"1"	"150528092"	"150528095"	"dup"	"0"	"01164"	"ADAMTSL4_000022"	"g.150528092_150528095dup"	""	""	""	""	""	"Germline"	""	"rs10687239"	"0"	""	""	"g.150555616_150555619dup"	""	"benign"	""
"0000141595"	"1"	"10"	"1"	"150528122"	"150528125"	"dup"	"0"	"01164"	"ADAMTSL4_000019"	"g.150528122_150528125dup"	""	""	""	""	""	"Germline"	""	"rs10687240"	"0"	""	""	"g.150555646_150555649dup"	""	"benign"	""
"0000141596"	"1"	"10"	"1"	"150528885"	"150528885"	"subst"	"0.042676"	"01164"	"ADAMTSL4_000020"	"g.150528885G>A"	""	""	""	""	""	"Germline"	""	"rs12119250"	"0"	""	""	"g.150556409G>A"	""	"benign"	""
"0000141597"	"1"	"10"	"1"	"150529322"	"150529323"	"ins"	"0"	"01164"	"ADAMTSL4_000021"	"g.150529322_150529323insAA"	""	""	""	""	""	"Germline"	""	"rs34379037"	"0"	""	""	"g.150556846_150556847insAA"	""	"benign"	""
"0000141598"	"1"	"50"	"1"	"150529439"	"150529439"	"subst"	"0"	"01164"	"ADAMTSL4_000011"	"g.150529439G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150556963G>A"	""	"VUS"	""
"0000141599"	"1"	"50"	"1"	"150530480"	"150530480"	"subst"	"1.66221E-5"	"01164"	"ADAMTSL4_000014"	"g.150530480G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150558004G>A"	""	"VUS"	""
"0000141600"	"1"	"10"	"1"	"150530548"	"150530548"	"subst"	"0.0189818"	"01164"	"ADAMTSL4_000015"	"g.150530548C>G"	""	""	""	""	""	"Germline"	""	"rs56228576"	"0"	""	""	"g.150558072C>G"	""	"benign"	""
"0000141601"	"1"	"10"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"01164"	"ADAMTSL4_000008"	"g.150531008T>C"	""	""	""	""	""	"Germline"	""	"rs10888382"	"0"	""	""	"g.150558532T>C"	""	"benign"	""
"0000141602"	"1"	"10"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"01164"	"ADAMTSL4_000005"	"g.150531050G>A"	""	""	""	""	""	"Germline"	""	"rs10749657"	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000141603"	"1"	"10"	"1"	"150522242"	"150522242"	"subst"	"0"	"01164"	"ADAMTSL4_000023"	"g.150522242T>C"	""	""	""	""	""	"Germline"	""	"rs4971020"	"0"	""	""	"g.150549766T>C"	""	"benign"	""
"0000141604"	"1"	"10"	"1"	"150531170"	"150531170"	"subst"	"0.981371"	"01164"	"ADAMTSL4_000006"	"g.150531170C>T"	""	""	""	""	""	"Germline"	""	"rs10749658"	"0"	""	""	"g.150558694C>T"	""	"benign"	""
"0000141605"	"1"	"10"	"1"	"150531380"	"150531380"	"subst"	"0"	"01164"	"ADAMTSL4_000018"	"g.150531380T>C"	""	""	""	""	""	"Germline"	""	"rs11204664"	"0"	""	""	"g.150558904T>C"	""	"benign"	""
"0000141606"	"1"	"10"	"1"	"150531360"	"150531360"	"subst"	"0"	"01164"	"ADAMTSL4_000017"	"g.150531360G>A"	""	""	""	""	""	"Germline"	""	"rs12097596"	"0"	""	""	"g.150558884G>A"	""	"benign"	""
"0000141607"	"1"	"50"	"1"	"150531472"	"150531472"	"subst"	"0.000113336"	"01164"	"ADAMTSL4_000010"	"g.150531472G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150558996G>A"	""	"VUS"	""
"0000141608"	"1"	"10"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"01164"	"ADAMTSL4_000003"	"g.150526044G>C"	""	""	""	""	""	"Germline"	""	"rs41317515"	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000141609"	"1"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000141610"	"1"	"90"	"1"	"150526311"	"150526311"	"subst"	"4.06375E-6"	"01164"	"ADAMTSL4_000009"	"g.150526311C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553835C>T"	""	"pathogenic"	""
"0000141611"	"1"	"10"	"1"	"150526393"	"150526393"	"subst"	"0.0313387"	"01164"	"ADAMTSL4_000012"	"g.150526393G>A"	""	""	""	""	""	"Germline"	""	"rs76075180"	"0"	""	""	"g.150553917G>A"	""	"benign"	""
"0000141612"	"1"	"10"	"1"	"150526406"	"150526406"	"subst"	"0.295352"	"01164"	"ADAMTSL4_000004"	"g.150526406C>T"	""	""	""	""	""	"Germline"	""	"rs6681639"	"0"	""	""	"g.150553930C>T"	""	"benign"	""
"0000170465"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01233"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000170466"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01233"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000170467"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01233"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000170468"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01233"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000170469"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01233"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000170470"	"3"	"99"	"1"	"150526234"	"150526253"	"del"	"0"	"01233"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000170471"	"3"	"99"	"1"	"150526392"	"150526392"	"subst"	"0"	"01233"	"ADAMTSL4_000027"	"g.150526392C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553916C>T"	""	"pathogenic"	""
"0000170472"	"3"	"99"	"1"	"150529701"	"150529701"	"dup"	"0"	"01233"	"ADAMTSL4_000026"	"g.150529701dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150557225dup"	""	"pathogenic"	""
"0000170473"	"3"	"97"	"1"	"150524765"	"150524765"	"del"	"0"	"01233"	"ADAMTSL4_000025"	"g.150524765del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150552289del"	""	"pathogenic"	""
"0000250162"	"0"	"10"	"1"	"150531078"	"150531078"	"subst"	"0.0146599"	"02329"	"ADAMTSL4_000040"	"g.150531078A>G"	""	""	""	"ADAMTSL4(NM_019032.6):c.2512A>G (p.M838V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558602A>G"	""	"benign"	""
"0000255060"	"0"	"30"	"1"	"150526134"	"150526134"	"subst"	"0.000243734"	"01943"	"ADAMTSL4_000028"	"g.150526134A>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.667A>T (p.T223S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150553658A>T"	""	"likely benign"	""
"0000256522"	"0"	"50"	"1"	"150531060"	"150531060"	"subst"	"8.12599E-6"	"01943"	"ADAMTSL4_000039"	"g.150531060A>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2563A>G (p.S855G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558584A>G"	""	"VUS"	""
"0000258950"	"0"	"10"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"02325"	"ADAMTSL4_000005"	"g.150531050G>A"	""	""	""	"ADAMTSL4(NM_019032.4):c.2484G>A (p.P828P), ADAMTSL4(NM_019032.6):c.2484G>A (p.P828=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000258951"	"0"	"10"	"1"	"150531170"	"150531170"	"subst"	"0.981371"	"02325"	"ADAMTSL4_000006"	"g.150531170C>T"	""	""	""	"ADAMTSL4(NM_025008.5):c.2604C>T (p.H868=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558694C>T"	""	"benign"	""
"0000260016"	"0"	"90"	"1"	"150526912"	"150526913"	"del"	"0"	"02329"	"ADAMTSL4_000032"	"g.150526912_150526913del"	""	""	""	"ADAMTSL4(NM_019032.6):c.1203_1204delCC (p.Q402Afs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150554436_150554437del"	""	"pathogenic"	""
"0000260017"	"0"	"10"	"1"	"150525425"	"150525425"	"subst"	"0.0292339"	"02329"	"ADAMTSL4_000013"	"g.150525425G>A"	""	""	""	"ADAMTSL4(NM_019032.4):c.130G>A (p.E44K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150552949G>A"	""	"benign"	""
"0000260018"	"0"	"30"	"1"	"150529657"	"150529657"	"subst"	"0.000862486"	"02329"	"ADAMTSL4_000033"	"g.150529657G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1962G>A (p.P654=), ADAMTSL4(NM_019032.6):c.1893G>A (p.P631=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150557181G>A"	""	"likely benign"	""
"0000260019"	"0"	"10"	"1"	"150530043"	"150530043"	"subst"	"0.0100781"	"02329"	"ADAMTSL4_000035"	"g.150530043G>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.2121G>A (p.A707=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150557567G>A"	""	"benign"	""
"0000260020"	"0"	"90"	"1"	"150530497"	"150530497"	"subst"	"4.13387E-6"	"02329"	"ADAMTSL4_000036"	"g.150530497C>T"	""	""	""	"ADAMTSL4(NM_019032.5):c.2254C>T (p.Q752*), ADAMTSL4(NM_019032.6):c.2254C>T (p.Q752*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558021C>T"	""	"pathogenic"	""
"0000260021"	"0"	"10"	"1"	"150530548"	"150530548"	"subst"	"0.0189818"	"02329"	"ADAMTSL4_000015"	"g.150530548C>G"	""	""	""	"ADAMTSL4(NM_019032.6):c.2305C>G (p.L769V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558072C>G"	""	"benign"	""
"0000260022"	"0"	"10"	"1"	"150531050"	"150531050"	"subst"	"0.870547"	"02329"	"ADAMTSL4_000005"	"g.150531050G>A"	""	""	""	"ADAMTSL4(NM_019032.4):c.2484G>A (p.P828P), ADAMTSL4(NM_019032.6):c.2484G>A (p.P828=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558574G>A"	""	"benign"	""
"0000260023"	"0"	"30"	"1"	"150531421"	"150531421"	"subst"	"0.00073351"	"02329"	"ADAMTSL4_000041"	"g.150531421G>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.2560-17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558945G>A"	""	"likely benign"	""
"0000260024"	"0"	"10"	"1"	"150531905"	"150531905"	"subst"	"0.00943202"	"02329"	"ADAMTSL4_000042"	"g.150531905C>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.2906C>A (p.A969D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150559429C>A"	""	"benign"	""
"0000260025"	"0"	"30"	"1"	"150531959"	"150531959"	"subst"	"0.00584608"	"02329"	"ADAMTSL4_000043"	"g.150531959G>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.2943+17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150559483G>A"	""	"likely benign"	""
"0000260026"	"0"	"10"	"1"	"150532376"	"150532376"	"subst"	"0.015793"	"02329"	"ADAMTSL4_000045"	"g.150532376G>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.3083G>A (p.R1028H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150559900G>A"	""	"benign"	""
"0000260027"	"0"	"10"	"1"	"150526044"	"150526044"	"subst"	"0.521675"	"02329"	"ADAMTSL4_000003"	"g.150526044G>C"	""	""	""	"ADAMTSL4(NM_019032.5):c.577G>C (p.A193P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150553568G>C"	""	"benign"	""
"0000260028"	"0"	"90"	"1"	"150526212"	"150526212"	"del"	"0"	"02329"	"ADAMTSL4_000029"	"g.150526212del"	""	""	""	"ADAMTSL4(NM_019032.6):c.745delC (p.L249Yfs*21)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150553736del"	""	"pathogenic"	""
"0000260029"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"02329"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	"ADAMTSL4(NM_001288608.1):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38), ADAMTSL4(NM_019032.6):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000260030"	"0"	"10"	"1"	"150526406"	"150526406"	"subst"	"0.295352"	"02329"	"ADAMTSL4_000004"	"g.150526406C>T"	""	""	""	"ADAMTSL4(NM_019032.6):c.939C>T (p.G313=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150553930C>T"	""	"benign"	""
"0000261964"	"0"	"90"	"1"	"150530497"	"150530497"	"subst"	"4.13387E-6"	"01943"	"ADAMTSL4_000036"	"g.150530497C>T"	""	""	""	"ADAMTSL4(NM_019032.5):c.2254C>T (p.Q752*), ADAMTSL4(NM_019032.6):c.2254C>T (p.Q752*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558021C>T"	""	"pathogenic"	""
"0000261965"	"0"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"01943"	"ADAMTSL4_000037"	"g.150530513dup"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2339dupG (p.G781Wfs*59), ADAMTSL4(NM_019032.5):c.2270dupG (p.G758Wfs*59)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558037dup"	""	"pathogenic"	""
"0000261966"	"0"	"30"	"1"	"150530531"	"150530531"	"subst"	"0.00427971"	"01943"	"ADAMTSL4_000038"	"g.150530531C>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2357C>G (p.P786R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150558055C>G"	""	"likely benign"	""
"0000320972"	"0"	"50"	"1"	"150530009"	"150530009"	"subst"	"0.00144438"	"01804"	"ADAMTSL4_000034"	"g.150530009C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2156C>T (p.S719L), ADAMTSL4(NM_019032.4):c.2087C>T (p.(Ser696Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150557533C>T"	""	"VUS"	""
"0000320973"	"0"	"50"	"1"	"150532247"	"150532247"	"subst"	"1.21871E-5"	"01804"	"ADAMTSL4_000044"	"g.150532247C>T"	""	""	""	"ADAMTSL4(NM_019032.4):c.2954C>T (p.(Ser985Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150559771C>T"	""	"VUS"	""
"0000438719"	"0"	"50"	"1"	"150527935"	"150527935"	"subst"	"8.13114E-5"	"01164"	"ADAMTSL4_000049"	"g.150527935G>A"	""	""	""	""	"ACMG grading: PM2,PP3; co-occurence with pathogenic variant c.3079C>T p.(Gln1027*)"	"Germline"	""	"rs757903395"	"0"	""	""	"g.150555459G>A"	""	"VUS"	"ACMG"
"0000438720"	"0"	"70"	"1"	"150532372"	"150532372"	"subst"	"0"	"01164"	"ADAMTSL4_000053"	"g.150532372C>T"	""	""	""	""	"ACMG grading: PM2,PVS1"	"Germline"	""	""	"0"	""	""	"g.150559896C>T"	""	"likely pathogenic"	"ACMG"
"0000438725"	"0"	"70"	"1"	"150526430"	"150526430"	"dup"	"0"	"01164"	"ADAMTSL4_000048"	"g.150526430dup"	""	""	""	""	"compound heterozygous with c.1480C>T p.Arg494*"	"Germline"	""	"rs748115277"	"0"	""	""	"g.150553954dup"	""	"likely pathogenic"	"ACMG"
"0000438726"	"0"	"70"	"1"	"150528746"	"150528746"	"subst"	"8.20264E-6"	"01164"	"ADAMTSL4_000051"	"g.150528746C>T"	""	""	""	""	"compound heterozygous with c.963dup p.Thr322Aspfs*10"	"Germline"	""	""	"0"	""	""	"g.150556270C>T"	""	"likely pathogenic"	"ACMG"
"0000438727"	"3"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695 identified in eight individuals from seven unrelated families in homozygous state, haplotype analysis suggest a founder mutation Aragon-Martin ; 2010. Hum Mutat 31: 1622 found in patients with ectopia lentis in homozygous and compound heterozygous state; ACMG grading: PP5,PVS1,PM2,PM3"	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438728"	"0"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"01164"	"ADAMTSL4_000037"	"g.150530513dup"	""	""	""	""	"Sharifi ; 2013. Br J Ophthalmol 97: 583 Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.; ACMG grading: PP5,PVS1,PM2"	"Germline"	""	"rs780264876"	"0"	""	""	"g.150558037dup"	""	"pathogenic"	"ACMG"
"0000438729"	"0"	"50"	"1"	"150527935"	"150527935"	"subst"	"8.13114E-5"	"01164"	"ADAMTSL4_000049"	"g.150527935G>A"	""	""	""	""	"ACMG grading: PP3,PM2; compound heterozygous with c.2270del p.Gly757Valfs*62"	"Germline"	""	"rs757903395"	"0"	""	""	"g.150555459G>A"	""	"VUS"	"ACMG"
"0000438730"	"0"	"70"	"1"	"150530513"	"150530513"	"del"	"0"	"01164"	"ADAMTSL4_000046"	"g.150530513del"	""	""	""	""	"ACMG grading: PVS1,PM2; compound heterozygous with c.1265G>A p.Cys422Tyr"	"Germline"	""	"rs747160538"	"0"	""	""	"g.150558037del"	""	"likely pathogenic"	"ACMG"
"0000438731"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis.; ACMG grading: PVS1,PS2,PP1; compound heterozygous with c.2270del p.Gly757Valfs*62"	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438732"	"0"	"70"	"1"	"150530513"	"150530513"	"del"	"0"	"01164"	"ADAMTSL4_000046"	"g.150530513del"	""	""	""	""	"compound heterozygous with c.767_786del p.Gln256Profs*38"	"Germline"	""	"rs747160538"	"0"	""	""	"g.150558037del"	""	"likely pathogenic"	"ACMG"
"0000438733"	"0"	"70"	"1"	"150531602"	"150531602"	"subst"	"0"	"01164"	"ADAMTSL4_000052"	"g.150531602T>A"	""	""	""	""	"ACMG grading: PVS1,PM2; unaffected carrier"	"Germline"	""	""	"0"	""	""	"g.150559126T>A"	""	"likely pathogenic"	"ACMG"
"0000438734"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis.; ACMG grading: PVS1,PP1,PS2; unaffected carrier"	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438737"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"ACMG grading: PS2,PP1,PVS1; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis."	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438738"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"ACMG grading: PVS1,PP1,PS2; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis."	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438740"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"ACMG grading: PVS1,PP1,PS2; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis."	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438741"	"0"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"01164"	"ADAMTSL4_000037"	"g.150530513dup"	""	""	""	""	"ACMG grading: PP5,PVS1,PM2; unaffected carrier; sister of MGZ# 130164; reported in Sharifi  2013. Br J Ophthalmol 97: 583 Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene."	"Germline"	""	"rs780264876"	"0"	""	""	"g.150558037dup"	""	"pathogenic"	"ACMG"
"0000438742"	"0"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"01164"	"ADAMTSL4_000037"	"g.150530513dup"	""	""	""	""	"ACMG grading: PP5,PVS1,PM2; unaffected carrier, brother of MGZ# 130163; reported in Sharifi  2013. Br J Ophthalmol 97: 583 Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene."	"Germline"	""	"rs780264876"	"0"	""	""	"g.150558037dup"	""	"pathogenic"	"ACMG"
"0000438743"	"0"	"50"	"1"	"150526051"	"150526051"	"subst"	"0.000605037"	"01164"	"ADAMTSL4_000047"	"g.150526051C>T"	""	""	""	""	""	"Germline"	""	"rs139990606"	"0"	""	""	"g.150553575C>T"	""	"VUS"	"ACMG"
"0000438744"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"ACMG grading: PVS1,PP1,PS2; unaffected carrier. Patient has probable causative variant SCN1A c.1259C>T p.(Ala420Val) heterozygous; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis."	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438745"	"0"	"70"	"1"	"150528043"	"150528043"	"subst"	"4.08E-6"	"01164"	"ADAMTSL4_000050"	"g.150528043T>C"	""	""	""	""	"ACMG grading: PVS1,PM2; unaffected carrier"	"Germline"	""	"rs780517182"	"0"	""	""	"g.150555567T>C"	""	"likely pathogenic"	"ACMG"
"0000438746"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"ACMG grading: PS2,PP1,PVS1; unaffected carrier; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis."	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000438747"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01164"	"ADAMTSL4_000030"	"g.150526234_150526253del"	""	""	""	""	"ACMG grading: PS2,PP1,PVS1; Aragon ; 2010. Hum Mutat 31: E1622 in 1 patient with isolated ectopia lentis homozygous, another 2 unrelated patients compound heterozygous with c.826_836del. Chandra ; 2013. Ophhalmic Genet 34: 78-82 in 1 patient with isolated ectopia lentis homozygous; the patients mother, father and one sibling are heterozygous carriers. Neuhann ; 2011. Invest Ophthalmol Vis Sci 52: 695-700 homozygous in 7 patients with ectopia lentis."	"Germline"	""	"rs587691401"	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000503081"	"0"	"30"	"1"	"150525403"	"150525403"	"subst"	"8.25062E-6"	"02329"	"ADAMTSL4_000054"	"g.150525403T>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.108T>A (p.P36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150552927T>A"	""	"likely benign"	""
"0000503083"	"0"	"30"	"1"	"150525550"	"150525550"	"subst"	"0"	"01943"	"ADAMTSL4_000056"	"g.150525550T>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.255T>A (p.P85=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553074T>A"	""	"likely benign"	""
"0000503084"	"0"	"50"	"1"	"150525555"	"150525555"	"subst"	"0"	"01943"	"ADAMTSL4_000057"	"g.150525555G>C"	""	""	""	"ADAMTSL4(NM_001288608.1):c.260G>C (p.R87P), ADAMTSL4(NM_019032.4):c.260G>C (p.(Arg87Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553079G>C"	""	"VUS"	""
"0000503085"	"0"	"30"	"1"	"150525555"	"150525555"	"subst"	"0"	"01804"	"ADAMTSL4_000057"	"g.150525555G>C"	""	""	""	"ADAMTSL4(NM_001288608.1):c.260G>C (p.R87P), ADAMTSL4(NM_019032.4):c.260G>C (p.(Arg87Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553079G>C"	""	"likely benign"	""
"0000503086"	"0"	"50"	"1"	"150525907"	"150525907"	"subst"	"0.000183196"	"01943"	"ADAMTSL4_000058"	"g.150525907G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.440G>A (p.R147Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553431G>A"	""	"VUS"	""
"0000503087"	"0"	"30"	"1"	"150526216"	"150526216"	"subst"	"0.00045169"	"01943"	"ADAMTSL4_000059"	"g.150526216G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.749G>A (p.R250Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553740G>A"	""	"likely benign"	""
"0000503089"	"0"	"30"	"1"	"150526270"	"150526270"	"subst"	"0.00872289"	"02329"	"ADAMTSL4_000060"	"g.150526270C>T"	""	""	""	"ADAMTSL4(NM_019032.6):c.803C>T (p.S268F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553794C>T"	""	"likely benign"	""
"0000503090"	"0"	"90"	"1"	"150526430"	"150526430"	"dup"	"0"	"01943"	"ADAMTSL4_000048"	"g.150526430dup"	""	""	""	"ADAMTSL4(NM_001288608.1):c.963dupG (p.T322Dfs*10), ADAMTSL4(NM_019032.6):c.963dupG (p.T322Dfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553954dup"	""	"pathogenic"	""
"0000503091"	"0"	"90"	"1"	"150526430"	"150526430"	"dup"	"0"	"02329"	"ADAMTSL4_000048"	"g.150526430dup"	""	""	""	"ADAMTSL4(NM_001288608.1):c.963dupG (p.T322Dfs*10), ADAMTSL4(NM_019032.6):c.963dupG (p.T322Dfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553954dup"	""	"pathogenic"	""
"0000503092"	"0"	"50"	"1"	"150528631"	"150528634"	"del"	"0"	"01943"	"ADAMTSL4_000061"	"g.150528631_150528634del"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1441-7_1441-4delTCTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150556155_150556158del"	""	"VUS"	""
"0000503093"	"0"	"30"	"1"	"150529535"	"150529536"	"del"	"0"	"01943"	"ADAMTSL4_000062"	"g.150529535_150529536del"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1930+9_1930+10delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150557059_150557060del"	""	"likely benign"	""
"0000503094"	"0"	"10"	"1"	"150530009"	"150530009"	"subst"	"0.00144438"	"01943"	"ADAMTSL4_000034"	"g.150530009C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2156C>T (p.S719L), ADAMTSL4(NM_019032.4):c.2087C>T (p.(Ser696Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150557533C>T"	""	"benign"	""
"0000503095"	"0"	"30"	"1"	"150530042"	"150530042"	"subst"	"0.000370976"	"01943"	"ADAMTSL4_000063"	"g.150530042C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2189C>T (p.A730V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150557566C>T"	""	"likely benign"	""
"0000503096"	"0"	"10"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"02325"	"ADAMTSL4_000008"	"g.150531008T>C"	""	""	""	"ADAMTSL4(NM_019032.4):c.2442T>C (p.N814N), ADAMTSL4(NM_019032.6):c.2442T>C (p.N814=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558532T>C"	""	"benign"	""
"0000503097"	"0"	"10"	"1"	"150531008"	"150531008"	"subst"	"0.912236"	"02329"	"ADAMTSL4_000008"	"g.150531008T>C"	""	""	""	"ADAMTSL4(NM_019032.4):c.2442T>C (p.N814N), ADAMTSL4(NM_019032.6):c.2442T>C (p.N814=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558532T>C"	""	"benign"	""
"0000503098"	"0"	"30"	"1"	"150531023"	"150531023"	"subst"	"5.28176E-5"	"01943"	"ADAMTSL4_000064"	"g.150531023C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2526C>T (p.S842=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558547C>T"	""	"likely benign"	""
"0000503100"	"0"	"30"	"1"	"150531828"	"150531828"	"subst"	"0.00225514"	"01943"	"ADAMTSL4_000066"	"g.150531828G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2898G>A (p.T966=), ADAMTSL4(NM_019032.6):c.2829G>A (p.T943=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150559352G>A"	""	"likely benign"	""
"0000503101"	"0"	"30"	"1"	"150531828"	"150531828"	"subst"	"0.00225514"	"02329"	"ADAMTSL4_000066"	"g.150531828G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2898G>A (p.T966=), ADAMTSL4(NM_019032.6):c.2829G>A (p.T943=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150559352G>A"	""	"likely benign"	""
"0000503102"	"0"	"50"	"1"	"150532595"	"150532595"	"subst"	"4.46791E-5"	"01943"	"ADAMTSL4_000067"	"g.150532595G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3217G>A (p.V1073I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150560119G>A"	""	"VUS"	""
"0000604780"	"0"	"30"	"1"	"150526597"	"150526597"	"subst"	"6.07813E-5"	"01943"	"ADAMTSL4_000070"	"g.150526597C>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1130C>A (p.A377E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150554121C>A"	""	"likely benign"	""
"0000604781"	"0"	"30"	"1"	"150526895"	"150526895"	"subst"	"8.12361E-6"	"01943"	"ADAMTSL4_000071"	"g.150526895T>C"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1186T>C (p.S396P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150554419T>C"	""	"likely benign"	""
"0000604782"	"0"	"30"	"1"	"150527059"	"150527059"	"subst"	"0.000538557"	"01943"	"ADAMTSL4_000072"	"g.150527059C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1252C>T (p.R418C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150554583C>T"	""	"likely benign"	""
"0000604783"	"0"	"30"	"1"	"150530954"	"150530954"	"subst"	"0.000175403"	"01943"	"ADAMTSL4_000073"	"g.150530954C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2457C>T (p.S819=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558478C>T"	""	"likely benign"	""
"0000604784"	"0"	"30"	"1"	"150531134"	"150531134"	"subst"	"0.00037105"	"01943"	"ADAMTSL4_000075"	"g.150531134G>A"	""	""	""	"ADAMTSL4(NM_025008.4):c.2568G>A (p.P856=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558658G>A"	""	"likely benign"	""
"0000604785"	"0"	"50"	"1"	"150531469"	"150531469"	"subst"	"0.000130547"	"01943"	"ADAMTSL4_000076"	"g.150531469G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2660G>A (p.R887Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558993G>A"	""	"VUS"	""
"0000604786"	"0"	"30"	"1"	"150531616"	"150531616"	"subst"	"0.000272989"	"01943"	"ADAMTSL4_000077"	"g.150531616G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2807G>A (p.R936H), ADAMTSL4(NM_019032.4):c.2738G>A (p.(Arg913His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150559140G>A"	""	"likely benign"	""
"0000620385"	"0"	"50"	"1"	"150525587"	"150525587"	"subst"	"0.00115295"	"01943"	"ADAMTSL4_000068"	"g.150525587C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.292C>T (p.R98W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553111C>T"	""	"VUS"	""
"0000620386"	"0"	"30"	"1"	"150525721"	"150525721"	"subst"	"2.52855E-5"	"01943"	"ADAMTSL4_000069"	"g.150525721G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.426G>A (p.A142=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553245G>A"	""	"likely benign"	""
"0000620387"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"01943"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	""	""	"ADAMTSL4(NM_001288608.1):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38), ADAMTSL4(NM_019032.6):c.767_786delAGGCCTCTGGCACAGAGCCC (p.Q256Pfs*38)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150553758_150553777del"	""	"pathogenic"	""
"0000620388"	"0"	"50"	"1"	"150531133"	"150531133"	"subst"	"4.48449E-5"	"01943"	"ADAMTSL4_000074"	"g.150531133C>T"	""	""	""	"ADAMTSL4(NM_025008.4):c.2567C>T (p.P856L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150558657C>T"	""	"VUS"	""
"0000647376"	"1"	"50"	"1"	"150530043"	"150530043"	"subst"	"0.0100781"	"03575"	"ADAMTSL4_000035"	"g.150530043G>A"	"25/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"25 heterozygous, no homozygous; {DB:CLININrs41317525}"	"Germline"	""	"rs41317525"	"0"	""	""	"g.150557567G>A"	""	"VUS"	""
"0000647377"	"1"	"50"	"1"	"150532626"	"150532626"	"subst"	"0.000905687"	"03575"	"ADAMTSL4_000078"	"g.150532626G>A"	"15/2777 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"15 heterozygous, no homozygous; {DB:CLININrs147697821}"	"Germline"	""	"rs147697821"	"0"	""	""	"g.150560150G>A"	""	"VUS"	""
"0000653093"	"1"	"50"	"1"	"150530009"	"150530009"	"subst"	"0.00144438"	"03575"	"ADAMTSL4_000034"	"g.150530009C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs115937511}"	"Germline"	""	"rs115937511"	"0"	""	""	"g.150557533C>T"	""	"VUS"	""
"0000653657"	"0"	"50"	"1"	"150528033"	"150528033"	"subst"	"2.03603E-5"	"01943"	"ADAMTSL4_000079"	"g.150528033C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1432C>T (p.R478C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150555557C>T"	""	"VUS"	""
"0000653658"	"0"	"30"	"1"	"150529657"	"150529657"	"subst"	"0.000862486"	"01943"	"ADAMTSL4_000033"	"g.150529657G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1962G>A (p.P654=), ADAMTSL4(NM_019032.6):c.1893G>A (p.P631=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150557181G>A"	""	"likely benign"	""
"0000653659"	"0"	"50"	"1"	"150532625"	"150532625"	"subst"	"0.00138492"	"01943"	"ADAMTSL4_000080"	"g.150532625C>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3247C>G (p.R1083G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150560149C>G"	""	"VUS"	""
"0000653660"	"0"	"30"	"1"	"150532636"	"150532636"	"subst"	"8.12216E-5"	"01943"	"ADAMTSL4_000081"	"g.150532636A>C"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3258A>C (p.A1086=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150560160A>C"	""	"likely benign"	""
"0000675463"	"0"	"30"	"1"	"150526427"	"150526427"	"subst"	"1.71634E-5"	"01943"	"ADAMTSL4_000082"	"g.150526427G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.960G>A (p.G320=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675464"	"0"	"30"	"1"	"150528811"	"150528811"	"subst"	"1.23089E-5"	"01943"	"ADAMTSL4_000083"	"g.150528811T>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1614T>A (p.I538=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000675465"	"0"	"50"	"1"	"150530958"	"150530958"	"subst"	"0.000110091"	"01943"	"ADAMTSL4_000084"	"g.150530958C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2461C>T (p.R821W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675466"	"0"	"30"	"1"	"150532262"	"150532262"	"subst"	"0.000718992"	"01943"	"ADAMTSL4_000085"	"g.150532262C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3038C>T (p.T1013M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000687863"	"0"	"50"	"1"	"150530494"	"150530494"	"subst"	"8.27465E-5"	"01943"	"ADAMTSL4_000086"	"g.150530494C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2320C>T (p.R774W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687864"	"0"	"50"	"1"	"150530554"	"150530554"	"subst"	"0.000191871"	"01943"	"ADAMTSL4_000087"	"g.150530554C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2380C>T (p.R794W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716791"	"0"	"30"	"1"	"150525641"	"150525641"	"subst"	"4.16188E-6"	"01943"	"ADAMTSL4_000088"	"g.150525641A>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.346A>G (p.T116A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716792"	"0"	"30"	"1"	"150526439"	"150526439"	"subst"	"5.17353E-5"	"01943"	"ADAMTSL4_000089"	"g.150526439C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.972C>T (p.H324=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716793"	"0"	"50"	"1"	"150526851"	"150526851"	"subst"	"0.000292621"	"01943"	"ADAMTSL4_000090"	"g.150526851C>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1142C>G (p.P381R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716794"	"0"	"30"	"1"	"150526888"	"150526888"	"subst"	"0.000357421"	"01943"	"ADAMTSL4_000091"	"g.150526888C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1179C>T (p.A393=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716795"	"0"	"70"	"1"	"150531472"	"150531472"	"subst"	"0.000113336"	"02327"	"ADAMTSL4_000010"	"g.150531472G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000716796"	"0"	"50"	"1"	"150531772"	"150531772"	"subst"	"0.000190909"	"01943"	"ADAMTSL4_000092"	"g.150531772G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2842G>A (p.E948K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716797"	"0"	"30"	"1"	"150532561"	"150532561"	"subst"	"0"	"01943"	"ADAMTSL4_000093"	"g.150532561A>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3183A>G (p.P1061=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716798"	"0"	"50"	"1"	"150532599"	"150532599"	"subst"	"0"	"01943"	"ADAMTSL4_000094"	"g.150532599A>C"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3221A>C (p.Y1074S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000798765"	"0"	"50"	"1"	"150526507"	"150526507"	"subst"	"8.38462E-6"	"01943"	"ADAMTSL4_000095"	"g.150526507A>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.1040A>G (p.H347R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000798766"	"0"	"50"	"1"	"150530561"	"150530561"	"subst"	"1.63251E-5"	"01943"	"ADAMTSL4_000096"	"g.150530561A>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2387A>G (p.N796S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000798767"	"0"	"50"	"1"	"150531580"	"150531580"	"subst"	"0.000140564"	"01943"	"ADAMTSL4_000097"	"g.150531580G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2771G>A (p.R924H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000814364"	"0"	"50"	"1"	"150530479"	"150530479"	"subst"	"5.40329E-5"	"00000"	"ADAMTSL4_000099"	"g.150530479C>T"	""	"{PMID:Lenassi 2020:31848469}"	""	"ADAMTSL4 c.2236C>T p.(Arg746Cys) het ADAMTSL4 c.767_786del p.(Gln256ProfsTer38) het"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.150558003C>T"	""	"VUS"	"ACMG"
"0000814366"	"3"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"00000"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Lenassi 2020:31848469}"	""	"ADAMTSL4 c.767_786del hom"	"no protein change mentioned in the publication; homozygous"	"Germline"	"?"	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000814378"	"0"	"90"	"1"	"150526234"	"150526235"	"del"	"0"	"00000"	"ADAMTSL4_000098"	"g.150526234_150526235del"	""	"{PMID:Lenassi 2020:31848469}"	""	"ADAMTSL4 c.767_768del het ADAMTSL4 c.2520dupC het"	"no protein change mentioned in the publication; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.150553758_150553759del"	""	"pathogenic"	"ACMG"
"0000814458"	"0"	"90"	"1"	"150526234"	"150526253"	"del"	"0"	"00000"	"ADAMTSL4_000001"	"g.150526234_150526253del"	""	"{PMID:Lenassi 2020:31848469}"	""	"ADAMTSL4 c.2236C>T p.(Arg746Cys) het ADAMTSL4 c.767_786del p.(Gln256ProfsTer38) het"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.150553758_150553777del"	""	"pathogenic"	"ACMG"
"0000814460"	"0"	"90"	"1"	"150531086"	"150531086"	"dup"	"0"	"00000"	"ADAMTSL4_000100"	"g.150531086dup"	""	"{PMID:Lenassi 2020:31848469}"	""	"ADAMTSL4 c.767_768del het ADAMTSL4 c.2520dupC het"	"no protein change mentioned in the publication; heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.150558610dup"	""	"pathogenic"	"ACMG"
"0000844401"	"11"	"90"	"1"	"150526430"	"150526430"	"dup"	"0"	"04101"	"ADAMTSL4_000048"	"g.150526430dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000844402"	"21"	"90"	"1"	"150526919"	"150526919"	"dup"	"0"	"04101"	"ADAMTSL4_000101"	"g.150526919dup"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000844404"	"11"	"70"	"1"	"150530103"	"150530103"	"subst"	"1.39961E-5"	"04101"	"ADAMTSL4_000105"	"g.150530103A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000844405"	"21"	"90"	"1"	"150531059"	"150531059"	"dup"	"0"	"04101"	"ADAMTSL4_000102"	"g.150531059dup"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.150558583dup"	""	"pathogenic (recessive)"	"ACMG"
"0000844406"	"11"	"90"	"1"	"150531472"	"150531472"	"subst"	"0.000113336"	"04101"	"ADAMTSL4_000010"	"g.150531472G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000844407"	"21"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"04101"	"ADAMTSL4_000037"	"g.150530513dup"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.150558037dup"	""	"pathogenic"	"ACMG"
"0000844408"	"3"	"90"	"1"	"150529118"	"150529122"	"dup"	"0"	"04101"	"ADAMTSL4_000104"	"g.150529118_150529122dup"	""	""	""	"1602_1603insGGTCC"	""	"Germline"	"yes"	""	"0"	""	""	"g.150556642_150556646dup"	""	"pathogenic"	"ACMG"
"0000844410"	"11"	"90"	"1"	"150526433"	"150526433"	"del"	"0"	"04101"	"ADAMTSL4_000103"	"g.150526433del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553957del"	""	"pathogenic"	"ACMG"
"0000844411"	"21"	"90"	"1"	"150530513"	"150530513"	"del"	"0"	"04101"	"ADAMTSL4_000046"	"g.150530513del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.150558037del"	""	"pathogenic"	"ACMG"
"0000844412"	"11"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"04101"	"ADAMTSL4_000037"	"g.150530513dup"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.150558037dup"	""	"pathogenic"	"ACMG"
"0000844413"	"21"	"90"	"1"	"150526430"	"150526430"	"dup"	"0"	"04101"	"ADAMTSL4_000048"	"g.150526430dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.150553954dup"	""	"pathogenic"	"ACMG"
"0000844414"	"11"	"90"	"1"	"150530513"	"150530513"	"del"	"0"	"04101"	"ADAMTSL4_000046"	"g.150530513del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.150558037del"	""	"pathogenic"	""
"0000844415"	"21"	"70"	"1"	"150530103"	"150530103"	"subst"	"1.39961E-5"	"04101"	"ADAMTSL4_000105"	"g.150530103A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	"ACMG"
"0000844416"	"11"	"90"	"1"	"150530479"	"150530479"	"subst"	"5.40329E-5"	"04101"	"ADAMTSL4_000099"	"g.150530479C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000844417"	"21"	"90"	"1"	"150531916"	"150531916"	"subst"	"1.23296E-5"	"04101"	"ADAMTSL4_000106"	"g.150531916C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000844418"	"11"	"90"	"1"	"150529270"	"150529270"	"subst"	"0"	"04101"	"ADAMTSL4_000107"	"g.150529270G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000844419"	"21"	"90"	"1"	"150530479"	"150530479"	"subst"	"5.40329E-5"	"04101"	"ADAMTSL4_000099"	"g.150530479C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000848290"	"0"	"50"	"1"	"150526051"	"150526051"	"subst"	"0.000605037"	"01943"	"ADAMTSL4_000047"	"g.150526051C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.584C>T (p.P195L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848291"	"0"	"30"	"1"	"150531882"	"150531882"	"subst"	"0.000797187"	"01943"	"ADAMTSL4_000110"	"g.150531882C>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2952C>G (p.A984=), ADAMTSL4(NM_019032.6):c.2883C>G (p.A961=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848292"	"0"	"50"	"1"	"150531934"	"150531934"	"subst"	"0"	"01943"	"ADAMTSL4_000111"	"g.150531934T>C"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3004T>C (p.W1002R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848293"	"0"	"50"	"1"	"150532230"	"150532230"	"subst"	"0.000967613"	"01943"	"ADAMTSL4_000112"	"g.150532230G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3013-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848294"	"0"	"50"	"1"	"150532271"	"150532271"	"subst"	"4.46798E-5"	"01943"	"ADAMTSL4_000113"	"g.150532271G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.3047G>A (p.R1016Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856963"	"0"	"50"	"1"	"150525527"	"150525527"	"subst"	"0.000299413"	"01943"	"ADAMTSL4_000108"	"g.150525527C>T"	""	""	""	"ADAMTSL4(NM_001288608.1):c.232C>T (p.L78F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856964"	"0"	"50"	"1"	"150531565"	"150531565"	"subst"	"0.000297415"	"01943"	"ADAMTSL4_000109"	"g.150531565G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2756G>A (p.R919Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000882759"	"0"	"90"	"1"	"150530497"	"150530497"	"subst"	"4.13387E-6"	"02327"	"ADAMTSL4_000036"	"g.150530497C>T"	""	""	""	"ADAMTSL4(NM_019032.5):c.2254C>T (p.Q752*), ADAMTSL4(NM_019032.6):c.2254C>T (p.Q752*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000921557"	"1"	"50"	"1"	"150531447"	"150531447"	"subst"	"6.87533E-5"	"00006"	"ADAMTSL4_000114"	"g.150531447G>A"	""	"{PMID:Li 2016:27307692}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150558971G>A"	""	"VUS"	""
"0000946975"	"0"	"70"	"1"	"150531471"	"150531471"	"subst"	"0"	"02329"	"ADAMTSL4_000115"	"g.150531471C>T"	""	""	""	"ADAMTSL4(NM_019032.6):c.2593C>T (p.R865C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000957475"	"21"	"90"	"1"	"150530513"	"150530513"	"dup"	"0"	"00006"	"ADAMTSL4_000037"	"g.150530513dup"	""	"{PMID:Liu 2023:37337769}"	""	"NM_001288608.1:c.2331_2332insG"	""	"Germline"	""	"rs794726690"	"0"	""	""	"g.150558037dup"	"rs794726690"	"pathogenic (recessive)"	""
"0000957515"	"11"	"90"	"1"	"150531472"	"150531472"	"subst"	"0.000113336"	"00006"	"ADAMTSL4_000010"	"g.150531472G>A"	""	"{PMID:Liu 2023:37337769}"	""	"NM_001288608.1:c.2663G>A"	""	"Germline"	""	"rs781691587"	"0"	""	""	"g.150558996G>A"	"rs781691587"	"pathogenic"	""
"0000960487"	"0"	"50"	"1"	"150532244"	"150532244"	"subst"	"0"	"02327"	"ADAMTSL4_000116"	"g.150532244G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973290"	"0"	"50"	"1"	"150525461"	"150525461"	"subst"	"4.10102E-6"	"02329"	"ADAMTSL4_000117"	"g.150525461T>G"	""	""	""	"ADAMTSL4(NM_019032.6):c.166T>G (p.C56G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973291"	"0"	"70"	"1"	"150532600"	"150532600"	"subst"	"0"	"02329"	"ADAMTSL4_000118"	"g.150532600C>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.3153C>A (p.Y1051*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000990261"	"0"	"30"	"1"	"150531616"	"150531616"	"subst"	"0.000272989"	"01804"	"ADAMTSL4_000077"	"g.150531616G>A"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2807G>A (p.R936H), ADAMTSL4(NM_019032.4):c.2738G>A (p.(Arg913His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001013208"	"0"	"10"	"1"	"150531653"	"150531653"	"subst"	"0.00267224"	"02329"	"ADAMTSL4_000119"	"g.150531653G>A"	""	""	""	"ADAMTSL4(NM_019032.6):c.2763+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001024023"	"0"	"90"	"1"	"150530513"	"150530513"	"del"	"0"	"02329"	"ADAMTSL4_000046"	"g.150530513del"	""	""	""	"ADAMTSL4(NM_019032.6):c.2270delG (p.G757Vfs*62)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001024024"	"0"	"30"	"1"	"150531882"	"150531882"	"subst"	"0.000797187"	"02329"	"ADAMTSL4_000110"	"g.150531882C>G"	""	""	""	"ADAMTSL4(NM_001288608.1):c.2952C>G (p.A984=), ADAMTSL4(NM_019032.6):c.2883C>G (p.A961=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 ADAMTSL4
## Count = 210
"{{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}}"
"0000140589"	"00002111"	"50"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Glu44Lys)"	"1"
"0000140590"	"00002111"	"99"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Val46Ile)"	"2"
"0000140591"	"00002111"	"11"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	"5"
"0000140592"	"00002111"	"11"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	"5"
"0000140593"	"00002111"	"11"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	"5"
"0000140594"	"00002111"	"11"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	"5"
"0000140595"	"00002111"	"11"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	"5"
"0000140596"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000140597"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000140598"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000140599"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000140600"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000140601"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000140602"	"00002111"	"97"	"844"	"0"	"844"	"0"	"c.844C>T"	"r.(?)"	"p.(Arg282*)"	"6"
"0000140603"	"00002111"	"33"	"926"	"0"	"926"	"0"	"c.926G>A"	"r.(?)"	"p.(Arg309Gln)"	"6"
"0000140604"	"00002111"	"11"	"939"	"0"	"939"	"0"	"c.939C>T"	"r.(?)"	"p.(=)"	"6"
"0000140605"	"00002111"	"11"	"939"	"0"	"939"	"0"	"c.939C>T"	"r.(?)"	"p.(=)"	"6"
"0000140606"	"00002111"	"11"	"939"	"0"	"939"	"0"	"c.939C>T"	"r.(?)"	"p.(=)"	"6"
"0000140607"	"00002111"	"11"	"939"	"0"	"939"	"0"	"c.939C>T"	"r.(?)"	"p.(=)"	"6"
"0000140608"	"00002111"	"30"	"1007"	"0"	"1007"	"0"	"c.1007G>A"	"r.(?)"	"p.(Gly336Asp)"	"6"
"0000140609"	"00002111"	"50"	"2305"	"0"	"2305"	"0"	"c.2305C>G"	"r.(?)"	"p.(Leu769Val)"	"12"
"0000140610"	"00002111"	"97"	"1162"	"0"	"1162"	"0"	"c.1162dup"	"r.(?)"	"p.(Ala388Glyfs*8)"	"6"
"0000140611"	"00002111"	"70"	"1774"	"0"	"1774"	"0"	"c.1774G>A"	"r.(?)"	"p.(Gly592Ser)"	"9"
"0000140612"	"00002111"	"70"	"2237"	"0"	"2237"	"0"	"c.2237G>A"	"r.(?)"	"p.(Arg746His)"	"12"
"0000140613"	"00002111"	"11"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(=)"	"13"
"0000140614"	"00002111"	"11"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(=)"	"13"
"0000140615"	"00002111"	"11"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(=)"	"13"
"0000140616"	"00002111"	"11"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(=)"	"13"
"0000140617"	"00002111"	"11"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(=)"	"14"
"0000140618"	"00002111"	"11"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(=)"	"14"
"0000140619"	"00002111"	"11"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(=)"	"14"
"0000140620"	"00002111"	"11"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(=)"	"14"
"0000140621"	"00002111"	"11"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(=)"	"14"
"0000140622"	"00002111"	"13"	"2559"	"45"	"2559"	"45"	"c.2559+45C>T"	"r.(?)"	"p.(=)"	"14i"
"0000140623"	"00002111"	"11"	"2559"	"45"	"2559"	"45"	"c.2559+45C>T"	"r.(?)"	"p.(=)"	"14i"
"0000140624"	"00002111"	"90"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Arg865His)"	"14"
"0000141590"	"00002111"	"10"	"1007"	"0"	"1007"	"0"	"c.1007G>A"	"r.(?)"	"p.(Gly336Asp)"	""
"0000141591"	"00002111"	"10"	"1132"	"-54"	"1132"	"-54"	"c.1132-54C>A"	"r.(=)"	"p.(=)"	""
"0000141592"	"00002111"	"90"	"1162"	"0"	"1162"	"0"	"c.1162dup"	"r.(?)"	"p.(Ala388Glyfs*8)"	""
"0000141593"	"00002111"	"10"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Glu44Lys)"	""
"0000141594"	"00002111"	"10"	"1371"	"51"	"1371"	"54"	"c.1371+51_1371+54dup"	"r.(=)"	"p.(=)"	""
"0000141595"	"00002111"	"10"	"1371"	"81"	"1371"	"84"	"c.1371+81_1371+84dup"	"r.(=)"	"p.(=)"	""
"0000141596"	"00002111"	"10"	"1576"	"43"	"1576"	"43"	"c.1576+43G>A"	"r.(=)"	"p.(=)"	""
"0000141597"	"00002111"	"10"	"1749"	"53"	"1749"	"54"	"c.1749+53_1749+54insAA"	"r.(=)"	"p.(=)"	""
"0000141598"	"00002111"	"50"	"1774"	"0"	"1774"	"0"	"c.1774G>A"	"r.(?)"	"p.(Gly592Ser)"	""
"0000141599"	"00002111"	"50"	"2237"	"0"	"2237"	"0"	"c.2237G>A"	"r.(?)"	"p.(Arg746His)"	""
"0000141600"	"00002111"	"10"	"2305"	"0"	"2305"	"0"	"c.2305C>G"	"r.(?)"	"p.(Leu769Val)"	""
"0000141601"	"00002111"	"10"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(=)"	"p.(=)"	""
"0000141602"	"00002111"	"10"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(=)"	"p.(=)"	""
"0000141603"	"00002111"	"10"	"-158"	"-56"	"-158"	"-56"	"c.-158-56T>C"	"r.(=)"	"p.(=)"	""
"0000141604"	"00002111"	"10"	"2559"	"45"	"2559"	"45"	"c.2559+45C>T"	"r.(=)"	"p.(=)"	""
"0000141605"	"00002111"	"10"	"2560"	"-58"	"2560"	"-58"	"c.2560-58T>C"	"r.(=)"	"p.(=)"	""
"0000141606"	"00002111"	"10"	"2560"	"-78"	"2560"	"-78"	"c.2560-78G>A"	"r.(=)"	"p.(=)"	""
"0000141607"	"00002111"	"50"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Arg865His)"	""
"0000141608"	"00002111"	"10"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	""
"0000141609"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	""
"0000141610"	"00002111"	"90"	"844"	"0"	"844"	"0"	"c.844C>T"	"r.(?)"	"p.(Arg282*)"	""
"0000141611"	"00002111"	"10"	"926"	"0"	"926"	"0"	"c.926G>A"	"r.(?)"	"p.(Arg309Gln)"	""
"0000141612"	"00002111"	"10"	"939"	"0"	"939"	"0"	"c.939C>T"	"r.(=)"	"p.(=)"	""
"0000170465"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000170466"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000170467"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000170468"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000170469"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000170470"	"00002111"	"99"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256Profs*38)"	"6"
"0000170471"	"00002111"	"99"	"925"	"0"	"925"	"0"	"c.925C>T"	"r.(?)"	"p.(Arg309*)"	""
"0000170472"	"00002111"	"99"	"1937"	"0"	"1937"	"0"	"c.1937dup"	"r.(?)"	"p.(Arg647Alafs*49)"	""
"0000170473"	"00002111"	"97"	"1"	"0"	"1"	"0"	"c.1del"	"r.(?)"	"p.(Met1?)"	""
"0000250162"	"00002111"	"10"	"2512"	"0"	"2512"	"0"	"c.2512A>G"	"r.(?)"	"p.(Met838Val)"	""
"0000255060"	"00002111"	"30"	"667"	"0"	"667"	"0"	"c.667A>T"	"r.(?)"	"p.(Thr223Ser)"	""
"0000256522"	"00002111"	"50"	"2494"	"0"	"2494"	"0"	"c.2494A>G"	"r.(?)"	"p.(Ser832Gly)"	""
"0000258950"	"00002111"	"10"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(Pro828=)"	""
"0000258951"	"00002111"	"10"	"2559"	"45"	"2559"	"45"	"c.2559+45C>T"	"r.(=)"	"p.(=)"	""
"0000260016"	"00002111"	"90"	"1203"	"0"	"1204"	"0"	"c.1203_1204del"	"r.(?)"	"p.(Gln402AlafsTer9)"	""
"0000260017"	"00002111"	"10"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Glu44Lys)"	""
"0000260018"	"00002111"	"30"	"1893"	"0"	"1893"	"0"	"c.1893G>A"	"r.(?)"	"p.(Pro631=)"	""
"0000260019"	"00002111"	"10"	"2121"	"0"	"2121"	"0"	"c.2121G>A"	"r.(?)"	"p.(Ala707=)"	""
"0000260020"	"00002111"	"90"	"2254"	"0"	"2254"	"0"	"c.2254C>T"	"r.(?)"	"p.(Gln752Ter)"	""
"0000260021"	"00002111"	"10"	"2305"	"0"	"2305"	"0"	"c.2305C>G"	"r.(?)"	"p.(Leu769Val)"	""
"0000260022"	"00002111"	"10"	"2484"	"0"	"2484"	"0"	"c.2484G>A"	"r.(?)"	"p.(Pro828=)"	""
"0000260023"	"00002111"	"30"	"2560"	"-17"	"2560"	"-17"	"c.2560-17G>A"	"r.(=)"	"p.(=)"	""
"0000260024"	"00002111"	"10"	"2906"	"0"	"2906"	"0"	"c.2906C>A"	"r.(?)"	"p.(Ala969Asp)"	""
"0000260025"	"00002111"	"30"	"2943"	"17"	"2943"	"17"	"c.2943+17G>A"	"r.(=)"	"p.(=)"	""
"0000260026"	"00002111"	"10"	"3083"	"0"	"3083"	"0"	"c.3083G>A"	"r.(?)"	"p.(Arg1028His)"	""
"0000260027"	"00002111"	"10"	"577"	"0"	"577"	"0"	"c.577G>C"	"r.(?)"	"p.(Ala193Pro)"	""
"0000260028"	"00002111"	"90"	"745"	"0"	"745"	"0"	"c.745del"	"r.(?)"	"p.(Leu249TyrfsTer21)"	""
"0000260029"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256ProfsTer38)"	""
"0000260030"	"00002111"	"10"	"939"	"0"	"939"	"0"	"c.939C>T"	"r.(?)"	"p.(Gly313=)"	""
"0000261964"	"00002111"	"90"	"2254"	"0"	"2254"	"0"	"c.2254C>T"	"r.(?)"	"p.(Gln752Ter)"	""
"0000261965"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.(Gly758TrpfsTer59)"	""
"0000261966"	"00002111"	"30"	"2288"	"0"	"2288"	"0"	"c.2288C>G"	"r.(?)"	"p.(Pro763Arg)"	""
"0000320972"	"00002111"	"50"	"2087"	"0"	"2087"	"0"	"c.2087C>T"	"r.(?)"	"p.(Ser696Leu)"	""
"0000320973"	"00002111"	"50"	"2954"	"0"	"2954"	"0"	"c.2954C>T"	"r.(?)"	"p.(Ser985Phe)"	""
"0000438719"	"00002111"	"50"	"1265"	"0"	"1265"	"0"	"c.1265G>A"	"r.(?)"	"p.Cys422Tyr"	""
"0000438720"	"00002111"	"70"	"3079"	"0"	"3079"	"0"	"c.3079C>T"	"r.(?)"	"p.Gln1027*"	""
"0000438725"	"00002111"	"70"	"963"	"0"	"963"	"0"	"c.963dup"	"r.(?)"	"p.Thr322Aspfs*10"	""
"0000438726"	"00002111"	"70"	"1480"	"0"	"1480"	"0"	"c.1480C>T"	"r.(?)"	"p.Arg494*"	""
"0000438727"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438728"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.Gly758Trpfs*59"	""
"0000438729"	"00002111"	"50"	"1265"	"0"	"1265"	"0"	"c.1265G>A"	"r.(?)"	"p.Cys422Tyr"	""
"0000438730"	"00002111"	"70"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.Gly757Valfs*62"	""
"0000438731"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438732"	"00002111"	"70"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.Gly757Valfs*62"	""
"0000438733"	"00002111"	"70"	"2724"	"0"	"2724"	"0"	"c.2724T>A"	"r.(?)"	"p.Cys908*"	""
"0000438734"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438737"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438738"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438740"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438741"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.Gly758Trpfs*59"	""
"0000438742"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.Gly758Trpfs*59"	""
"0000438743"	"00002111"	"50"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.Pro195Leu"	""
"0000438744"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438745"	"00002111"	"70"	"1371"	"2"	"1371"	"2"	"c.1371+2T>C"	"r.(?)"	"p.?"	""
"0000438746"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000438747"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.Gln256Profs*38"	""
"0000503081"	"00002111"	"30"	"108"	"0"	"108"	"0"	"c.108T>A"	"r.(?)"	"p.(Pro36=)"	""
"0000503083"	"00002111"	"30"	"255"	"0"	"255"	"0"	"c.255T>A"	"r.(?)"	"p.(Pro85=)"	""
"0000503084"	"00002111"	"50"	"260"	"0"	"260"	"0"	"c.260G>C"	"r.(?)"	"p.(Arg87Pro)"	""
"0000503085"	"00002111"	"30"	"260"	"0"	"260"	"0"	"c.260G>C"	"r.(?)"	"p.(Arg87Pro)"	""
"0000503086"	"00002111"	"50"	"440"	"0"	"440"	"0"	"c.440G>A"	"r.(?)"	"p.(Arg147Gln)"	""
"0000503087"	"00002111"	"30"	"749"	"0"	"749"	"0"	"c.749G>A"	"r.(?)"	"p.(Arg250Gln)"	""
"0000503089"	"00002111"	"30"	"803"	"0"	"803"	"0"	"c.803C>T"	"r.(?)"	"p.(Ser268Phe)"	""
"0000503090"	"00002111"	"90"	"963"	"0"	"963"	"0"	"c.963dup"	"r.(?)"	"p.(Thr322AspfsTer10)"	""
"0000503091"	"00002111"	"90"	"963"	"0"	"963"	"0"	"c.963dup"	"r.(?)"	"p.(Thr322AspfsTer10)"	""
"0000503092"	"00002111"	"50"	"1372"	"-7"	"1372"	"-4"	"c.1372-7_1372-4del"	"r.spl?"	"p.?"	""
"0000503093"	"00002111"	"30"	"1861"	"9"	"1861"	"10"	"c.1861+9_1861+10del"	"r.(=)"	"p.(=)"	""
"0000503094"	"00002111"	"10"	"2087"	"0"	"2087"	"0"	"c.2087C>T"	"r.(?)"	"p.(Ser696Leu)"	""
"0000503095"	"00002111"	"30"	"2120"	"0"	"2120"	"0"	"c.2120C>T"	"r.(?)"	"p.(Ala707Val)"	""
"0000503096"	"00002111"	"10"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(Asn814=)"	""
"0000503097"	"00002111"	"10"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(Asn814=)"	""
"0000503098"	"00002111"	"30"	"2457"	"0"	"2457"	"0"	"c.2457C>T"	"r.(?)"	"p.(Ser819=)"	""
"0000503100"	"00002111"	"30"	"2829"	"0"	"2829"	"0"	"c.2829G>A"	"r.(?)"	"p.(Thr943=)"	""
"0000503101"	"00002111"	"30"	"2829"	"0"	"2829"	"0"	"c.2829G>A"	"r.(?)"	"p.(Thr943=)"	""
"0000503102"	"00002111"	"50"	"3148"	"0"	"3148"	"0"	"c.3148G>A"	"r.(?)"	"p.(Val1050Ile)"	""
"0000604780"	"00002111"	"30"	"1130"	"0"	"1130"	"0"	"c.1130C>A"	"r.(?)"	"p.(Ala377Glu)"	""
"0000604781"	"00002111"	"30"	"1186"	"0"	"1186"	"0"	"c.1186T>C"	"r.(?)"	"p.(Ser396Pro)"	""
"0000604782"	"00002111"	"30"	"1234"	"116"	"1234"	"116"	"c.1234+116C>T"	"r.(=)"	"p.(=)"	""
"0000604783"	"00002111"	"30"	"2388"	"0"	"2388"	"0"	"c.2388C>T"	"r.(?)"	"p.(Ser796=)"	""
"0000604784"	"00002111"	"30"	"2559"	"9"	"2559"	"9"	"c.2559+9G>A"	"r.(=)"	"p.(=)"	""
"0000604785"	"00002111"	"50"	"2591"	"0"	"2591"	"0"	"c.2591G>A"	"r.(?)"	"p.(Arg864Gln)"	""
"0000604786"	"00002111"	"30"	"2738"	"0"	"2738"	"0"	"c.2738G>A"	"r.(?)"	"p.(Arg913His)"	""
"0000620385"	"00002111"	"50"	"292"	"0"	"292"	"0"	"c.292C>T"	"r.(?)"	"p.(Arg98Trp)"	""
"0000620386"	"00002111"	"30"	"426"	"0"	"426"	"0"	"c.426G>A"	"r.(?)"	"p.(Ala142=)"	""
"0000620387"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256ProfsTer38)"	""
"0000620388"	"00002111"	"50"	"2559"	"8"	"2559"	"8"	"c.2559+8C>T"	"r.(=)"	"p.(=)"	""
"0000647376"	"00002111"	"50"	"2121"	"0"	"2121"	"0"	"c.2121G>A"	"r.(=)"	"p.(=)"	""
"0000647377"	"00002111"	"50"	"3179"	"0"	"3179"	"0"	"c.3179G>A"	"r.(?)"	"p.(Arg1060His)"	""
"0000653093"	"00002111"	"50"	"2087"	"0"	"2087"	"0"	"c.2087C>T"	"r.(?)"	"p.(Ser696Leu)"	""
"0000653657"	"00002111"	"50"	"1363"	"0"	"1363"	"0"	"c.1363C>T"	"r.(?)"	"p.(Arg455Cys)"	""
"0000653658"	"00002111"	"30"	"1893"	"0"	"1893"	"0"	"c.1893G>A"	"r.(?)"	"p.(Pro631=)"	""
"0000653659"	"00002111"	"50"	"3178"	"0"	"3178"	"0"	"c.3178C>G"	"r.(?)"	"p.(Arg1060Gly)"	""
"0000653660"	"00002111"	"30"	"3189"	"0"	"3189"	"0"	"c.3189A>C"	"r.(?)"	"p.(Ala1063=)"	""
"0000675463"	"00002111"	"30"	"960"	"0"	"960"	"0"	"c.960G>A"	"r.(?)"	"p.(Gly320=)"	""
"0000675464"	"00002111"	"30"	"1545"	"0"	"1545"	"0"	"c.1545T>A"	"r.(?)"	"p.(Ile515=)"	""
"0000675465"	"00002111"	"50"	"2392"	"0"	"2392"	"0"	"c.2392C>T"	"r.(?)"	"p.(Arg798Trp)"	""
"0000675466"	"00002111"	"30"	"2969"	"0"	"2969"	"0"	"c.2969C>T"	"r.(?)"	"p.(Thr990Met)"	""
"0000687863"	"00002111"	"50"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Arg751Trp)"	""
"0000687864"	"00002111"	"50"	"2311"	"0"	"2311"	"0"	"c.2311C>T"	"r.(?)"	"p.(Arg771Trp)"	""
"0000716791"	"00002111"	"30"	"346"	"0"	"346"	"0"	"c.346A>G"	"r.(?)"	"p.(Thr116Ala)"	""
"0000716792"	"00002111"	"30"	"972"	"0"	"972"	"0"	"c.972C>T"	"r.(?)"	"p.(His324=)"	""
"0000716793"	"00002111"	"50"	"1142"	"0"	"1142"	"0"	"c.1142C>G"	"r.(?)"	"p.(Pro381Arg)"	""
"0000716794"	"00002111"	"30"	"1179"	"0"	"1179"	"0"	"c.1179C>T"	"r.(?)"	"p.(Ala393=)"	""
"0000716795"	"00002111"	"70"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Arg865His)"	""
"0000716796"	"00002111"	"50"	"2773"	"0"	"2773"	"0"	"c.2773G>A"	"r.(?)"	"p.(Glu925Lys)"	""
"0000716797"	"00002111"	"30"	"3114"	"0"	"3114"	"0"	"c.3114A>G"	"r.(?)"	"p.(Pro1038=)"	""
"0000716798"	"00002111"	"50"	"3152"	"0"	"3152"	"0"	"c.3152A>C"	"r.(?)"	"p.(Tyr1051Ser)"	""
"0000798765"	"00002111"	"50"	"1040"	"0"	"1040"	"0"	"c.1040A>G"	"r.(?)"	"p.(His347Arg)"	""
"0000798766"	"00002111"	"50"	"2318"	"0"	"2318"	"0"	"c.2318A>G"	"r.(?)"	"p.(Asn773Ser)"	""
"0000798767"	"00002111"	"50"	"2702"	"0"	"2702"	"0"	"c.2702G>A"	"r.(?)"	"p.(Arg901His)"	""
"0000814364"	"00002111"	"50"	"2236"	"0"	"2236"	"0"	"c.2236C>T"	"r.(?)"	"p.(Arg746Cys)"	""
"0000814366"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256ProfsTer38)"	""
"0000814378"	"00002111"	"90"	"767"	"0"	"768"	"0"	"c.767_768del"	"r.(?)"	"p.(Gln256ArgfsTer44)"	""
"0000814458"	"00002111"	"90"	"767"	"0"	"786"	"0"	"c.767_786del"	"r.(?)"	"p.(Gln256ProfsTer38)"	""
"0000814460"	"00002111"	"90"	"2520"	"0"	"2520"	"0"	"c.2520dupC"	"r.(?)"	"p.(Cys841LeufsTer59)"	""
"0000844401"	"00002111"	"90"	"963"	"0"	"963"	"0"	"c.963dup"	"r.(?)"	"p.(Thr322Aspfs*10)"	""
"0000844402"	"00002111"	"90"	"1210"	"0"	"1210"	"0"	"c.1210dup"	"r.(?)"	"p.(Tyr404Leufs*8)"	""
"0000844404"	"00002111"	"70"	"2177"	"4"	"2177"	"4"	"c.2177+4A>G"	"r.spl?"	"p.?"	""
"0000844405"	"00002111"	"90"	"2493"	"0"	"2493"	"0"	"c.2493dup"	"r.(?)"	"p.(Ser832Glnfs*6)"	""
"0000844406"	"00002111"	"90"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Arg865His)"	""
"0000844407"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.(Gly758Trpfs*59)"	""
"0000844408"	"00002111"	"90"	"1598"	"0"	"1602"	"0"	"c.1598_1602dup"	"r.(?)"	"p.(Ile535Glyfs*52)"	""
"0000844410"	"00002111"	"90"	"966"	"0"	"966"	"0"	"c.966del"	"r.(?)"	"p.(Pro323Leufs*20)"	""
"0000844411"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.(Gly757Valfs*62)"	""
"0000844412"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.(Gly758Trpfs*59)"	""
"0000844413"	"00002111"	"90"	"963"	"0"	"963"	"0"	"c.963dup"	"r.(?)"	"p.(Thr322Aspfs*10)"	""
"0000844414"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.(Gly757Valfs*62)"	""
"0000844415"	"00002111"	"70"	"2177"	"4"	"2177"	"4"	"c.2177+4A>G"	"r.spl?"	"p.?"	""
"0000844416"	"00002111"	"90"	"2236"	"0"	"2236"	"0"	"c.2236C>T"	"r.(?)"	"p.(Arg746Cys)"	""
"0000844417"	"00002111"	"90"	"2917"	"0"	"2917"	"0"	"c.2917C>T"	"r.(?)"	"p.(Arg973*)"	""
"0000844418"	"00002111"	"90"	"1749"	"1"	"1749"	"1"	"c.1749+1G>A"	"r.spl?"	"p.?"	""
"0000844419"	"00002111"	"90"	"2236"	"0"	"2236"	"0"	"c.2236C>T"	"r.(?)"	"p.(Arg746Cys)"	""
"0000848290"	"00002111"	"50"	"584"	"0"	"584"	"0"	"c.584C>T"	"r.(?)"	"p.(Pro195Leu)"	""
"0000848291"	"00002111"	"30"	"2883"	"0"	"2883"	"0"	"c.2883C>G"	"r.(?)"	"p.(Ala961=)"	""
"0000848292"	"00002111"	"50"	"2935"	"0"	"2935"	"0"	"c.2935T>C"	"r.(?)"	"p.(Trp979Arg)"	""
"0000848293"	"00002111"	"50"	"2944"	"-7"	"2944"	"-7"	"c.2944-7G>A"	"r.(=)"	"p.(=)"	""
"0000848294"	"00002111"	"50"	"2978"	"0"	"2978"	"0"	"c.2978G>A"	"r.(?)"	"p.(Arg993Gln)"	""
"0000856963"	"00002111"	"50"	"232"	"0"	"232"	"0"	"c.232C>T"	"r.(?)"	"p.(Leu78Phe)"	""
"0000856964"	"00002111"	"50"	"2687"	"0"	"2687"	"0"	"c.2687G>A"	"r.(?)"	"p.(Arg896Gln)"	""
"0000882759"	"00002111"	"90"	"2254"	"0"	"2254"	"0"	"c.2254C>T"	"r.(?)"	"p.(Gln752Ter)"	""
"0000921557"	"00002111"	"50"	"2569"	"0"	"2569"	"0"	"c.2569G>A"	"r.(?)"	"p.(Glu857Lys)"	""
"0000946975"	"00002111"	"70"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Cys)"	""
"0000957475"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270dup"	"r.(?)"	"p.(Gly758Trpfs*59)"	""
"0000957515"	"00002111"	"90"	"2594"	"0"	"2594"	"0"	"c.2594G>A"	"r.(?)"	"p.(Arg865His)"	""
"0000960487"	"00002111"	"50"	"2951"	"0"	"2951"	"0"	"c.2951G>C"	"r.(?)"	"p.(Arg984Pro)"	""
"0000973290"	"00002111"	"50"	"166"	"0"	"166"	"0"	"c.166T>G"	"r.(?)"	"p.(Cys56Gly)"	""
"0000973291"	"00002111"	"70"	"3153"	"0"	"3153"	"0"	"c.3153C>A"	"r.(?)"	"p.(Tyr1051*)"	""
"0000990261"	"00002111"	"30"	"2738"	"0"	"2738"	"0"	"c.2738G>A"	"r.(?)"	"p.(Arg913His)"	""
"0001013208"	"00002111"	"10"	"2763"	"12"	"2763"	"12"	"c.2763+12G>A"	"r.(=)"	"p.(=)"	""
"0001024023"	"00002111"	"90"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.(Gly757ValfsTer62)"	""
"0001024024"	"00002111"	"30"	"2883"	"0"	"2883"	"0"	"c.2883C>G"	"r.(?)"	"p.(Ala961=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 118
"{{screeningid}}"	"{{variantid}}"
"0000088208"	"0000140596"
"0000088209"	"0000140597"
"0000088210"	"0000140598"
"0000088211"	"0000140599"
"0000088212"	"0000140591"
"0000088212"	"0000140604"
"0000088212"	"0000140608"
"0000088212"	"0000140617"
"0000088212"	"0000140622"
"0000088213"	"0000140592"
"0000088213"	"0000140605"
"0000088213"	"0000140610"
"0000088213"	"0000140613"
"0000088213"	"0000140618"
"0000088214"	"0000140600"
"0000088214"	"0000140602"
"0000088215"	"0000140603"
"0000088215"	"0000140611"
"0000088215"	"0000140624"
"0000088216"	"0000140589"
"0000088216"	"0000140593"
"0000088216"	"0000140606"
"0000088216"	"0000140614"
"0000088216"	"0000140619"
"0000088217"	"0000140594"
"0000088217"	"0000140612"
"0000088217"	"0000140615"
"0000088217"	"0000140620"
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