### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ALG13)
# 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}}"
"ALG13"	"asparagine-linked glycosylation 13 homolog (S. cerevisiae)"	"X"	"q23"	"unknown"	"NG_016238.1"	"UD_132118289862"	""	"http://www.LOVD.nl/ALG13"	""	"1"	"30881"	"79868"	"300776"	"1"	"1"	"1"	"1"	"The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/ALG13_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2009-03-06 14:29:48"	"00006"	"2014-10-23 01:57:01"	"00000"	"2023-01-11 15:44:22"


## 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}}"
"00001514"	"ALG13"	"transcript variant 1"	"001"	"NM_001099922.2"	""	"NP_001093392.1"	""	""	""	"-101"	"4064"	"3414"	"110924346"	"111003877"	"00000"	"2012-09-13 13:37:34"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00187"	"MRX;IDX"	"mental retardation, X-linked (MRX, intellectual disability (IDX))"	""	""	""	"X-linked"	""	"00006"	"2013-09-05 15:56:47"	"00006"	"2018-12-18 09:23:21"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2016-10-22 17:54:40"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02197"	"EIEE36;CDG1S"	"epileptic encephalopathy, early infantile, 36"	"XLD"	"300884"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 22:02:57"
"04270"	"epilepsy"	"epilepsy"	""	""	""	""	""	"00006"	"2015-05-14 16:00:06"	"00006"	"2017-09-07 14:25:59"
"05611"	"NDD"	"neurodevelopmental delay (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2019-08-07 19:22:28"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ALG13"	"00139"
"ALG13"	"02197"


## Individuals ## Do not remove or alter this header ##
## Count = 17
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00019869"	""	""	""	"1"	""	"00705"	"{PMID:Gilissen 2014:24896178}"	""	"?"	"?"	"? (unknown)"	""	"0"	""	""	""	""
"00050426"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00089215"	""	""	""	"1"	""	"00006"	"{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}"	"father unavailable"	"F"	""	""	""	"0"	""	""	""	""
"00116841"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_172:0/1:CONTROL"
"00116860"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_209:0/1:CONTROL"
"00116894"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_293:0/1:CONTROL"
"00116898"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_3:0/1:CONTROL"
"00116917"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_338:0/1:CONTROL"
"00116935"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_384:0/1:CONTROL"
"00116941"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_408:0/1:CONTROL"
"00117090"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 567 controls"	""	""	""	""	"0"	""	""	""	"S_71:0/1:CONTROL"
"00173222"	""	""	""	"5"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00314901"	""	""	""	"1"	""	"00006"	"{PMID:Zhu 2015:25590979}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Trio94"
"00374187"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4679"
"00385104"	""	""	""	"1"	""	"00006"	"{PMID:Gershlick 2019:30624672}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"patient"
"00427798"	""	""	""	"1"	""	"00006"	"{PMID:Zhou 2018:29314583}"	"family, 1 affected, unaffected carrier mother"	"M"	""	"China"	""	"0"	""	""	""	"Pat008"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 17
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00019869"	"00139"
"00050426"	"00198"
"00089215"	"00344"
"00116841"	"00000"
"00116860"	"00000"
"00116894"	"00000"
"00116898"	"00000"
"00116917"	"00000"
"00116935"	"00000"
"00116941"	"00000"
"00117090"	"00000"
"00173222"	"00187"
"00314901"	"00198"
"00374187"	"00198"
"00385104"	"05611"
"00427798"	"04270"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 00344, 01157, 02197, 04270, 05611
## Count = 9
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{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}}"
"0000017599"	"00139"	"00019869"	"00705"	"Unknown"	"?"	"neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis."	""	""	""	""	""	""	""	""	""	""	""	""
"0000037038"	"00198"	"00050426"	"00006"	"Isolated (sporadic)"	""	"microhematuria, hypercalciuria, proportionate short stature, seizures, intellectual disability"	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	"3w"	""	""	""	""	""	""	""	""	""
"0000068605"	"00344"	"00089215"	"00006"	"Unknown"	""	"early-onset epileptic encephalopathy"	""	""	""	""	""	""	""	""	""	""	""	""
"0000138086"	"00187"	"00173222"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000238659"	"00198"	"00314901"	"00006"	"Unknown"	"14y"	"Non-verbal austism, intellectual disability, fatty liver, pancreatitis, obesity/overgrowth, Tourette syndrome, seizures."	"2y"	""	""	""	""	""	""	""	""	""	""	""
"0000269397"	"00198"	"00374187"	"00006"	"Familial, X-linked"	""	"Refractory epilepsy, infantile spasms, atonic falls, secondary autism, developmental delay and hypotonia during infancy"	""	""	""	""	""	""	""	""	""	""	"epilepsy, autism spectrum disorder"	""
"0000278887"	"05611"	"00385104"	"00006"	"Familial, autosomal recessive"	"06y"	"see paper; ..., early infancy cholestatic hepatitis, feeding difficulties, failure to thrive; ongoing liver dysfunction requiring treatment with bile acid ursodiol, gastrostomy tube dependence, hypotonia, marked microcephaly, severe global developmental delay, inability to sit, lack of spoken language, electrical status epilepticus in sleep requiring anticonvulsant therapy, cortical vision impairment, strabismus, sleep apnea, gastric volvulus, constipation, asthma, episodic respiratory infections (incl. respiratory syncytial virus), adenoviral pneumonia, pleural effusion; minor dysmorphic features, epicanthal folds, long eyelashes, slightly overfolded ears, upturned nasal tip, thin upper lip, high/narrow anterior palate, full/rounded cheeks, low posterior hairline, single flexion creases fifth fingers, mild clubbing thumbnails/other fingernails, increased hair upper back; 6y-bilateral lower extremity edema; 4m-MRI brain normal, 4y-6y-multiple abnormalities, small cerebellar vermis, small pons/brainstem, enlarged infra-vermian cistern with suspicion Dandy–Walker variant, small hippocampus, thin corpus callosum, abnormal white matter signal cerebral hemispheres"	""	""	""	""	""	""	""	""	""	"PCH13"	"neurodevelopmental delay"	""
"0000318772"	"04270"	"00427798"	"00006"	"Unknown"	"14y"	"intellectual disability; generalized tonic-clonic seizure, frequency 1-2/wk; EEG burst of fast activity, generalized spike wave, focal spike wave; MRI brain nonspecific; remitted to antiepileptic drugs"	"5y"	""	""	""	""	""	""	""	""	""	"Lennox-Gastaut syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 17
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000019862"	"00019869"	"1"	"00705"	"00705"	"2014-09-10 09:14:38"	""	""	"SEQ"	"DNA"	""	""
"0000050371"	"00050426"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000089361"	"00089215"	"1"	"00006"	"00006"	"2016-12-02 14:26:21"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000117309"	"00116841"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117328"	"00116860"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117362"	"00116894"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117366"	"00116898"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117385"	"00116917"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117403"	"00116935"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117409"	"00116941"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000117493"	"00117090"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000174105"	"00173222"	"1"	"00124"	"00006"	"2009-04-08 13:58:13"	"00006"	"2009-05-19 12:34:20"	"SEQ"	"DNA"	""	""
"0000316075"	"00314901"	"1"	"00006"	"00006"	"2020-10-20 15:09:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000375381"	"00374187"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000386333"	"00385104"	"1"	"00006"	"00006"	"2021-10-07 10:37:26"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000429121"	"00427798"	"1"	"00006"	"00006"	"2022-12-13 13:20:24"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"target gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{geneid}}"
"0000019862"	"ALG13"
"0000050371"	"ALG13"
"0000089361"	"ALG13"
"0000174105"	"ARMCX5"
"0000316075"	"ALG13"
"0000375381"	"ALG13"
"0000386333"	"VPS51"


## 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 = 105
"{{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}}"
"0000003175"	"0"	"50"	"X"	"111000721"	"111000721"	"del"	"0"	"00037"	"ALG13_000001"	"g.111000721del"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.111757493del"	""	"VUS"	""
"0000040322"	"0"	"70"	"X"	"110928268"	"110928268"	"subst"	"0"	"00705"	"ALG13_000002"	"g.110928268A>G"	""	"{PMID:Gilissen 2014:24896178}"	""	""	"not specifically associated with ID phenotype but may have clinical consequences"	"De novo"	"?"	""	"0"	""	""	"g.111685040A>G"	""	"likely pathogenic"	""
"0000079351"	"0"	"90"	"X"	"110928268"	"110928268"	"subst"	"0"	"00006"	"ALG13_000002"	"g.110928268A>G"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.111685040A>G"	""	"pathogenic"	""
"0000147298"	"0"	"90"	"X"	"110928268"	"110928268"	"subst"	"0"	"00006"	"ALG13_000002"	"g.110928268A>G"	""	"{PMID:Epi4K consortium 2016:27476654}, {DOI:Epi4K consortium 2016:10.1016/j.ajhg.2016.06.003}"	""	""	"father unavailable"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.111685040A>G"	""	"pathogenic"	""
"0000188154"	"0"	"50"	"X"	"110956473"	"110956473"	"subst"	"0"	"02192"	"ALG13_000005"	"g.110956473G>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111713245G>A"	""	"VUS"	""
"0000188173"	"0"	"50"	"X"	"110973637"	"110973639"	"del"	"0"	"02192"	"ALG13_000008"	"g.110973637_110973639del"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"nonframeshift_deletion"	"Germline"	""	""	"0"	""	""	"g.111730409_111730411del"	""	"VUS"	""
"0000188207"	"0"	"50"	"X"	"110951624"	"110951625"	"ins"	"0"	"02192"	"ALG13_000004"	"g.110951624_110951625insG"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111708396_111708397insG"	""	"VUS"	""
"0000188211"	"0"	"50"	"X"	"110967127"	"110967127"	"subst"	"0"	"02192"	"ALG13_000006"	"g.110967127G>T"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111723899G>T"	""	"VUS"	""
"0000188230"	"0"	"50"	"X"	"110970141"	"110970141"	"subst"	"0.0000850451"	"02192"	"ALG13_000007"	"g.110970141C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs200516126"	"0"	""	""	"g.111726913C>T"	""	"VUS"	""
"0000188254"	"0"	"50"	"X"	"110973637"	"110973639"	"del"	"0"	"02192"	"ALG13_000008"	"g.110973637_110973639del"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"nonframeshift_deletion"	"Germline"	""	""	"0"	""	""	"g.111730409_111730411del"	""	"VUS"	""
"0000188403"	"0"	"50"	"X"	"110970141"	"110970141"	"subst"	"0.0000850451"	"02192"	"ALG13_000007"	"g.110970141C>T"	"2/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	"rs200516126"	"0"	""	""	"g.111726913C>T"	""	"VUS"	""
"0000188477"	"0"	"50"	"X"	"110925436"	"110925436"	"subst"	"0"	"02192"	"ALG13_000003"	"g.110925436C>A"	"1/567 controls"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111682208C>A"	""	"VUS"	""
"0000251818"	"0"	"30"	"X"	"110987969"	"110987969"	"subst"	"0"	"02326"	"ALG13_000024"	"g.110987969A>C"	""	""	""	"ALG13(NM_001257231.1):c.2535A>C (p.P845=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111744741A>C"	""	"likely benign"	""
"0000251819"	"0"	"30"	"X"	"111000881"	"111000881"	"subst"	"0.000911185"	"02326"	"ALG13_000026"	"g.111000881A>G"	""	""	""	"ALG13(NM_001257231.1):c.2805A>G (p.V935=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111757653A>G"	""	"likely benign"	""
"0000254883"	"0"	"30"	"X"	"110987996"	"110987996"	"subst"	"0"	"01943"	"ALG13_000025"	"g.110987996A>T"	""	""	""	"ALG13(NM_001257231.1):c.2562A>T (p.P854=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111744768A>T"	""	"likely benign"	""
"0000255036"	"0"	"30"	"X"	"110951412"	"110951412"	"subst"	"0.0000339966"	"01943"	"ALG13_000012"	"g.110951412A>G"	""	""	""	"ALG13(NM_001257231.1):c.307A>G (p.T103A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111708184A>G"	""	"likely benign"	""
"0000255113"	"0"	"30"	"X"	"111000900"	"111000900"	"subst"	"0.000604678"	"01943"	"ALG13_000027"	"g.111000900A>G"	""	""	""	"ALG13(NM_001257231.1):c.2824A>G (p.T942A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111757672A>G"	""	"likely benign"	""
"0000259038"	"0"	"10"	"X"	"110963338"	"110963338"	"subst"	"0.0110403"	"02325"	"ALG13_000016"	"g.110963338T>C"	""	""	""	"ALG13(NM_001257231.2):c.1032T>C (p.G344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111720110T>C"	""	"benign"	""
"0000335194"	"0"	"30"	"X"	"110925461"	"110925461"	"subst"	"0.00810811"	"01804"	"ALG13_000009"	"g.110925461C>T"	""	""	""	"ALG13(NM_001039210.3):c.183C>T (p.(Tyr61=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111682233C>T"	""	"likely benign"	""
"0000335196"	"0"	"30"	"X"	"110931118"	"110931118"	"subst"	"0"	"01804"	"ALG13_000011"	"g.110931118G>T"	""	""	""	"ALG13(NM_001039210.3):c.328G>T (p.(Ala110Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111687890G>T"	""	"likely benign"	""
"0000335199"	"0"	"30"	"X"	"110956486"	"110956486"	"subst"	"0"	"01804"	"ALG13_000015"	"g.110956486A>T"	""	""	""	"ALG13(NM_001099922.2):c.966A>T (p.(Lys322Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111713258A>T"	""	"likely benign"	""
"0000335200"	"0"	"50"	"X"	"110970111"	"110970111"	"subst"	"0.0000226832"	"01804"	"ALG13_000017"	"g.110970111A>G"	""	""	""	"ALG13(NM_001099922.2):c.1804A>G (p.(Met602Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111726883A>G"	""	"VUS"	""
"0000335202"	"0"	"30"	"X"	"110980084"	"110980084"	"subst"	"0.00530738"	"01804"	"ALG13_000019"	"g.110980084C>T"	""	""	""	"ALG13(NM_001099922.2):c.2672C>T (p.(Ser891Phe)), ALG13(NM_001257231.1):c.2438C>T (p.S813F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111736856C>T"	""	"likely benign"	""
"0000335203"	"0"	"50"	"X"	"110987996"	"110987998"	"dup"	"0"	"01804"	"ALG13_000020"	"g.110987996_110987998dup"	""	""	""	"ALG13(NM_001099922.2):c.2753_2754insACC (p.(Pro945dup)), ALG13(NM_001257231.1):c.2562_2564dupACC (p.P867dup), ALG13(NM_001257231.2):c.2562_2564dupA..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111744768_111744770dup"	""	"VUS"	""
"0000335207"	"0"	"50"	"X"	"111000948"	"111000948"	"subst"	"0.00000571808"	"01804"	"ALG13_000028"	"g.111000948G>A"	""	""	""	"ALG13(NM_001099922.2):c.3106G>A (p.(Val1036Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111757720G>A"	""	"VUS"	""
"0000335208"	"0"	"50"	"X"	"111003127"	"111003127"	"subst"	"0"	"01804"	"ALG13_000029"	"g.111003127A>T"	""	""	""	"ALG13(NM_001099922.2):c.3314A>T (p.(Tyr1105Phe)), ALG13(NM_001257231.1):c.3080A>T (p.Y1027F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111759899A>T"	""	"VUS"	""
"0000343557"	"0"	"90"	"X"	"110928268"	"110928268"	"subst"	"0"	"02327"	"ALG13_000002"	"g.110928268A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111685040A>G"	""	"pathogenic"	""
"0000344503"	"0"	"50"	"X"	"111003141"	"111003141"	"subst"	"0"	"02327"	"ALG13_000030"	"g.111003141C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.111759913C>T"	""	"VUS"	""
"0000400879"	"1"	"30"	"X"	"110925461"	"110925461"	"subst"	"0.00810811"	"00124"	"ALG13_000009"	"g.110925461C>T"	"5/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"Y61Y"	"recurrent, found 5 times"	"Germline"	""	""	"0"	""	""	"g.111682233C>T"	""	"likely benign"	""
"0000573027"	"0"	"30"	"X"	"110925386"	"110925386"	"subst"	"0.000219422"	"01943"	"ALG13_000031"	"g.110925386A>G"	""	""	""	"ALG13(NM_001099922.2):c.108A>G (p.R36=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111682158A>G"	""	"likely benign"	""
"0000573028"	"0"	"30"	"X"	"110925428"	"110925428"	"subst"	"0.000246738"	"02326"	"ALG13_000032"	"g.110925428C>T"	""	""	""	"ALG13(NM_001099922.3):c.150C>T (p.P50=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111682200C>T"	""	"likely benign"	""
"0000573029"	"0"	"30"	"X"	"110925485"	"110925485"	"subst"	"0.0000183404"	"01943"	"ALG13_000033"	"g.110925485A>C"	""	""	""	"ALG13(NM_001099922.2):c.207A>C (p.E69D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111682257A>C"	""	"likely benign"	""
"0000573030"	"0"	"30"	"X"	"110928237"	"110928237"	"subst"	"0.00000566742"	"01943"	"ALG13_000034"	"g.110928237G>A"	""	""	""	"ALG13(NM_001257231.1):c.55G>A (p.V19I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111685009G>A"	""	"likely benign"	""
"0000573032"	"0"	"50"	"X"	"110931141"	"110931141"	"subst"	"0"	"01943"	"ALG13_000036"	"g.110931141T>C"	""	""	""	"ALG13(NM_001257240.2):c.98T>C (p.M33T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111687913T>C"	""	"VUS"	""
"0000573033"	"0"	"30"	"X"	"110931185"	"110931185"	"subst"	"0.00000753035"	"01943"	"ALG13_000037"	"g.110931185A>C"	""	""	""	"ALG13(NM_001257240.2):c.142A>C (p.K48Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111687957A>C"	""	"likely benign"	""
"0000573034"	"0"	"30"	"X"	"110961328"	"110961328"	"subst"	"0"	"02326"	"ALG13_000038"	"g.110961328T>A"	""	""	""	"ALG13(NM_001257231.1):c.854-12T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111718100T>A"	""	"likely benign"	""
"0000573035"	"0"	"30"	"X"	"110970141"	"110970141"	"subst"	"0.0000850451"	"01804"	"ALG13_000007"	"g.110970141C>T"	""	""	""	"ALG13(NM_001099922.2):c.1834C>T (p.(Pro612Ser)), ALG13(NM_001099922.3):c.1834C>T (p.P612S), ALG13(NM_001257231.1):c.1600C>T (p.P534S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111726913C>T"	""	"likely benign"	""
"0000573036"	"0"	"30"	"X"	"110971409"	"110971409"	"subst"	"0.00397362"	"02326"	"ALG13_000039"	"g.110971409A>G"	""	""	""	"ALG13(NM_001099922.2):c.2248-4A>G (p.?), ALG13(NM_001257231.1):c.2014-4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111728181A>G"	""	"likely benign"	""
"0000573037"	"0"	"30"	"X"	"110973637"	"110973639"	"del"	"0"	"01804"	"ALG13_000040"	"g.110973637_110973639del"	""	""	""	"ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111730409_111730411del"	""	"likely benign"	""
"0000573038"	"0"	"30"	"X"	"110973637"	"110973639"	"del"	"0"	"02325"	"ALG13_000040"	"g.110973637_110973639del"	""	""	""	"ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111730409_111730411del"	""	"likely benign"	""
"0000573039"	"0"	"50"	"X"	"110973649"	"110973649"	"subst"	"0.0000171922"	"01943"	"ALG13_000041"	"g.110973649C>T"	""	""	""	"ALG13(NM_001257231.1):c.2161C>T (p.R721C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111730421C>T"	""	"VUS"	""
"0000573040"	"0"	"30"	"X"	"110978321"	"110978321"	"subst"	"0"	"01943"	"ALG13_000042"	"g.110978321A>G"	""	""	""	"ALG13(NM_001257231.1):c.2266A>G (p.T756A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111735093A>G"	""	"likely benign"	""
"0000573041"	"0"	"30"	"X"	"110980018"	"110980018"	"subst"	"0.0000569162"	"01943"	"ALG13_000043"	"g.110980018C>T"	""	""	""	"ALG13(NM_001257231.1):c.2372C>T (p.A791V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111736790C>T"	""	"likely benign"	""
"0000573042"	"0"	"30"	"X"	"110980029"	"110980029"	"subst"	"0.00212873"	"01943"	"ALG13_000018"	"g.110980029G>C"	""	""	""	"ALG13(NM_001257231.1):c.2383G>C (p.A795P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111736801G>C"	""	"likely benign"	""
"0000573043"	"0"	"30"	"X"	"110980084"	"110980084"	"subst"	"0.00530738"	"01943"	"ALG13_000019"	"g.110980084C>T"	""	""	""	"ALG13(NM_001099922.2):c.2672C>T (p.(Ser891Phe)), ALG13(NM_001257231.1):c.2438C>T (p.S813F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111736856C>T"	""	"likely benign"	""
"0000573048"	"0"	"30"	"X"	"110987996"	"110987996"	"subst"	"0"	"02326"	"ALG13_000025"	"g.110987996A>T"	""	""	""	"ALG13(NM_001257231.1):c.2562A>T (p.P854=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744768A>T"	""	"likely benign"	""
"0000573049"	"0"	"30"	"X"	"110987996"	"110987998"	"dup"	"0"	"01943"	"ALG13_000020"	"g.110987996_110987998dup"	""	""	""	"ALG13(NM_001099922.2):c.2753_2754insACC (p.(Pro945dup)), ALG13(NM_001257231.1):c.2562_2564dupACC (p.P867dup), ALG13(NM_001257231.2):c.2562_2564dupA..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744768_111744770dup"	""	"likely benign"	""
"0000573052"	"0"	"10"	"X"	"110988033"	"110988035"	"del"	"0"	"01943"	"ALG13_000048"	"g.110988033_110988035del"	""	""	""	"ALG13(NM_001099922.3):c.2833_2835delCCT (p.P945del), ALG13(NM_001257231.1):c.2599_2601delCCT (p.P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744805_111744807del"	""	"benign"	""
"0000573053"	"0"	"30"	"X"	"110988033"	"110988035"	"dup"	"0"	"02326"	"ALG13_000049"	"g.110988033_110988035dup"	""	""	""	"ALG13(NM_001257231.1):c.2599_2601dupCCT (p.P867dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744805_111744807dup"	""	"likely benign"	""
"0000573054"	"0"	"30"	"X"	"110988033"	"110988035"	"dup"	"0"	"01943"	"ALG13_000049"	"g.110988033_110988035dup"	""	""	""	"ALG13(NM_001257231.1):c.2599_2601dupCCT (p.P867dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744805_111744807dup"	""	"likely benign"	""
"0000573056"	"0"	"50"	"X"	"111000981"	"111000981"	"subst"	"0"	"02329"	"ALG13_000051"	"g.111000981T>C"	""	""	""	"ALG13(NM_001257231.1):c.2905T>C (p.S969P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111757753T>C"	""	"VUS"	""
"0000573057"	"0"	"30"	"X"	"111003127"	"111003127"	"subst"	"0"	"01943"	"ALG13_000029"	"g.111003127A>T"	""	""	""	"ALG13(NM_001099922.2):c.3314A>T (p.(Tyr1105Phe)), ALG13(NM_001257231.1):c.3080A>T (p.Y1027F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111759899A>T"	""	"likely benign"	""
"0000573059"	"0"	"30"	"X"	"111003227"	"111003227"	"subst"	"0.000655069"	"01943"	"ALG13_000053"	"g.111003227A>C"	""	""	""	"ALG13(NM_001099922.3):c.3414A>C (p.*1138Yext*5), ALG13(NM_001257231.1):c.3180A>C (p.*1060Yext*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111759999A>C"	""	"likely benign"	""
"0000618896"	"0"	"30"	"X"	"110928319"	"110928319"	"subst"	"0.000178481"	"01943"	"ALG13_000054"	"g.110928319A>G"	""	""	""	"ALG13(NM_001257231.1):c.137A>G (p.Y46C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111685091A>G"	""	"likely benign"	""
"0000618897"	"0"	"50"	"X"	"110955725"	"110955725"	"subst"	"0"	"01943"	"ALG13_000055"	"g.110955725A>C"	""	""	""	"ALG13(NM_001257231.1):c.665A>C (p.Q222P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111712497A>C"	""	"VUS"	""
"0000618898"	"0"	"30"	"X"	"110963385"	"110963385"	"subst"	"0"	"01943"	"ALG13_000056"	"g.110963385C>A"	""	""	""	"ALG13(NM_001257231.1):c.1079C>A (p.T360K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111720157C>A"	""	"likely benign"	""
"0000618899"	"0"	"30"	"X"	"110970964"	"110970964"	"subst"	"0.0000347949"	"01943"	"ALG13_000058"	"g.110970964A>G"	""	""	""	"ALG13(NM_001257231.1):c.1979A>G (p.E660G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111727736A>G"	""	"likely benign"	""
"0000618900"	"0"	"10"	"X"	"110980084"	"110980084"	"subst"	"0.00530738"	"02326"	"ALG13_000019"	"g.110980084C>T"	""	""	""	"ALG13(NM_001099922.2):c.2672C>T (p.(Ser891Phe)), ALG13(NM_001257231.1):c.2438C>T (p.S813F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111736856C>T"	""	"benign"	""
"0000618901"	"0"	"30"	"X"	"110987981"	"110987998"	"del"	"0"	"01943"	"ALG13_000060"	"g.110987981_110987998del"	""	""	""	"ALG13(NM_001257231.1):c.2547_2564delACCACCACCACCACCACC (p.P862_P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744753_111744770del"	""	"likely benign"	""
"0000618903"	"0"	"30"	"X"	"110987999"	"110987999"	"subst"	"0"	"01943"	"ALG13_000047"	"g.110987999T>A"	""	""	""	"ALG13(NM_001099922.3):c.2799T>A (p.P933=), ALG13(NM_001257231.1):c.2565T>A (p.P855=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744771T>A"	""	"likely benign"	""
"0000624380"	"0"	"30"	"X"	"110967030"	"110967030"	"subst"	"0"	"01943"	"ALG13_000057"	"g.110967030G>T"	""	""	""	"ALG13(NM_001257231.1):c.1271G>T (p.C424F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111723802G>T"	""	"likely benign"	""
"0000624381"	"0"	"30"	"X"	"110978306"	"110978306"	"subst"	"0.0000997776"	"02326"	"ALG13_000059"	"g.110978306A>G"	""	""	""	"ALG13(NM_001257231.1):c.2251A>G (p.M751V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111735078A>G"	""	"likely benign"	""
"0000624382"	"0"	"30"	"X"	"110987996"	"110987998"	"dup"	"0"	"02325"	"ALG13_000020"	"g.110987996_110987998dup"	""	""	""	"ALG13(NM_001099922.2):c.2753_2754insACC (p.(Pro945dup)), ALG13(NM_001257231.1):c.2562_2564dupACC (p.P867dup), ALG13(NM_001257231.2):c.2562_2564dupA..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744768_111744770dup"	""	"likely benign"	""
"0000659041"	"0"	"30"	"X"	"110951491"	"110951491"	"subst"	"0.0000283373"	"01943"	"ALG13_000061"	"g.110951491G>A"	""	""	""	"ALG13(NM_001257231.1):c.386G>A (p.G129E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111708263G>A"	""	"likely benign"	""
"0000659042"	"0"	"30"	"X"	"110973623"	"110973623"	"subst"	"0.000200939"	"01943"	"ALG13_000062"	"g.110973623G>A"	""	""	""	"ALG13(NM_001257231.1):c.2135G>A (p.G712E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111730395G>A"	""	"likely benign"	""
"0000659043"	"0"	"30"	"X"	"110973637"	"110973639"	"del"	"0"	"01943"	"ALG13_000040"	"g.110973637_110973639del"	""	""	""	"ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111730409_111730411del"	""	"likely benign"	""
"0000659044"	"0"	"30"	"X"	"110987996"	"110987998"	"del"	"0"	"02326"	"ALG13_000063"	"g.110987996_110987998del"	""	""	""	"ALG13(NM_001257231.1):c.2562_2564delACC (p.P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744768_111744770del"	""	"likely benign"	""
"0000659045"	"0"	"30"	"X"	"110988098"	"110988098"	"subst"	"0.000810617"	"01943"	"ALG13_000064"	"g.110988098T>C"	""	""	""	"ALG13(NM_001257231.1):c.2664T>C (p.Y888=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111744870T>C"	""	"likely benign"	""
"0000659046"	"0"	"30"	"X"	"111003104"	"111003104"	"subst"	"0"	"01943"	"ALG13_000065"	"g.111003104C>G"	""	""	""	"ALG13(NM_001257231.1):c.3057C>G (p.P1019=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.111759876C>G"	""	"likely benign"	""
"0000682029"	"0"	"30"	"X"	"110980097"	"110980097"	"subst"	"0.0000845053"	"02326"	"ALG13_000066"	"g.110980097C>T"	""	""	""	"ALG13(NM_001257231.1):c.2451C>T (p.H817=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682030"	"0"	"30"	"X"	"110987993"	"110987998"	"del"	"0"	"01943"	"ALG13_000021"	"g.110987993_110987998del"	""	""	""	"ALG13(NM_001099922.3):c.2793_2798delACCACC (p.P944_P945del), ALG13(NM_001257231.1):c.2559_2564delACCACC (p.P866_P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682031"	"0"	"30"	"X"	"110987998"	"110987999"	"ins"	"0"	"01943"	"ALG13_000067"	"g.110987998_110987999insACCTCC"	""	""	""	"ALG13(NM_001257231.1):c.2564_2565insACCTCC (p.P866_P867dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682032"	"0"	"30"	"X"	"111003034"	"111003034"	"subst"	"0.000633272"	"01943"	"ALG13_000068"	"g.111003034A>G"	""	""	""	"ALG13(NM_001257231.1):c.2987A>G (p.Y996C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693282"	"0"	"30"	"X"	"110973630"	"110973630"	"subst"	"0.0000114526"	"01943"	"ALG13_000069"	"g.110973630T>C"	""	""	""	"ALG13(NM_001257231.1):c.2142T>C (p.Y714=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693283"	"0"	"30"	"X"	"110988098"	"110988098"	"subst"	"0.000810617"	"02326"	"ALG13_000064"	"g.110988098T>C"	""	""	""	"ALG13(NM_001257231.1):c.2664T>C (p.Y888=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693285"	"0"	"30"	"X"	"111000935"	"111000935"	"subst"	"0.00025118"	"01943"	"ALG13_000070"	"g.111000935A>G"	""	""	""	"ALG13(NM_001257231.1):c.2859A>G (p.Q953=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693286"	"0"	"30"	"X"	"111000935"	"111000935"	"subst"	"0.00025118"	"02326"	"ALG13_000070"	"g.111000935A>G"	""	""	""	"ALG13(NM_001257231.1):c.2859A>G (p.Q953=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698201"	"0"	"70"	"X"	"110928313"	"110928313"	"subst"	"0"	"00006"	"ALG13_000071"	"g.110928313T>G"	""	"{PMID:Zhu 2015:25590979}"	""	"425T>G"	""	"De novo"	""	""	"0"	""	""	"g.111685085T>G"	""	"VUS"	""
"0000728340"	"0"	"50"	"X"	"110966066"	"110966066"	"subst"	"0"	"02325"	"ALG13_000072"	"g.110966066A>G"	""	""	""	"ALG13(NM_001099922.3):c.1481A>G (p.Y494C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728341"	"0"	"30"	"X"	"110970141"	"110970141"	"subst"	"0.0000850451"	"01943"	"ALG13_000007"	"g.110970141C>T"	""	""	""	"ALG13(NM_001099922.2):c.1834C>T (p.(Pro612Ser)), ALG13(NM_001099922.3):c.1834C>T (p.P612S), ALG13(NM_001257231.1):c.1600C>T (p.P534S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728342"	"0"	"50"	"X"	"110971516"	"110971516"	"subst"	"0"	"01943"	"ALG13_000073"	"g.110971516A>T"	""	""	""	"ALG13(NM_001257231.1):c.2117A>T (p.N706I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728343"	"0"	"30"	"X"	"110973637"	"110973639"	"del"	"0"	"02326"	"ALG13_000008"	"g.110973637_110973639del"	""	""	""	"ALG13(NM_001099922.2):c.2380_2382del (p.(Glu795del)), ALG13(NM_001099922.3):c.2383_2385delGAA (p.E795del), ALG13(NM_001257231.1):c.2149_2151delGAA ..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728344"	"0"	"30"	"X"	"110980029"	"110980029"	"subst"	"0.00212873"	"02326"	"ALG13_000018"	"g.110980029G>C"	""	""	""	"ALG13(NM_001257231.1):c.2383G>C (p.A795P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728345"	"0"	"50"	"X"	"110988024"	"110988035"	"del"	"0"	"01943"	"ALG13_000074"	"g.110988024_110988035del"	""	""	""	"ALG13(NM_001257231.1):c.2590_2601delCCTCCTCCTCCT (p.P864_P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728346"	"0"	"10"	"X"	"110988033"	"110988035"	"del"	"0"	"02325"	"ALG13_000048"	"g.110988033_110988035del"	""	""	""	"ALG13(NM_001099922.3):c.2833_2835delCCT (p.P945del), ALG13(NM_001257231.1):c.2599_2601delCCT (p.P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000728347"	"0"	"30"	"X"	"111003227"	"111003227"	"subst"	"0.000655069"	"02326"	"ALG13_000053"	"g.111003227A>C"	""	""	""	"ALG13(NM_001099922.3):c.3414A>C (p.*1138Yext*5), ALG13(NM_001257231.1):c.3180A>C (p.*1060Yext*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000786732"	"0"	"90"	"X"	"110928268"	"110928268"	"subst"	"0"	"00006"	"ALG13_000002"	"g.110928268A>G"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.111685040A>G"	""	"pathogenic"	""
"0000809791"	"0"	"30"	"X"	"110963377"	"110963377"	"subst"	"0.0000068112"	"01943"	"ALG13_000075"	"g.110963377T>G"	""	""	""	"ALG13(NM_001257231.1):c.1071T>G (p.N357K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809792"	"0"	"30"	"X"	"110971409"	"110971409"	"subst"	"0.00397362"	"01804"	"ALG13_000039"	"g.110971409A>G"	""	""	""	"ALG13(NM_001099922.2):c.2248-4A>G (p.?), ALG13(NM_001257231.1):c.2014-4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809793"	"0"	"30"	"X"	"110978306"	"110978306"	"subst"	"0.0000997776"	"01943"	"ALG13_000059"	"g.110978306A>G"	""	""	""	"ALG13(NM_001257231.1):c.2251A>G (p.M751V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809794"	"0"	"30"	"X"	"110980097"	"110980097"	"subst"	"0.0000845053"	"01943"	"ALG13_000066"	"g.110980097C>T"	""	""	""	"ALG13(NM_001257231.1):c.2451C>T (p.H817=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809795"	"0"	"30"	"X"	"110987996"	"110987998"	"del"	"0"	"01943"	"ALG13_000063"	"g.110987996_110987998del"	""	""	""	"ALG13(NM_001257231.1):c.2562_2564delACC (p.P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000813811"	"21"	"50"	"X"	"110971409"	"110971409"	"subst"	"0.00397362"	"00006"	"ALG13_000039"	"g.110971409A>G"	""	"{PMID:Gershlick 2019:30624672}"	""	"2014-4A>G"	"description variant not certain (no refseq given)"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000856281"	"0"	"30"	"X"	"110970141"	"110970141"	"subst"	"0.0000850451"	"02325"	"ALG13_000007"	"g.110970141C>T"	""	""	""	"ALG13(NM_001099922.2):c.1834C>T (p.(Pro612Ser)), ALG13(NM_001099922.3):c.1834C>T (p.P612S), ALG13(NM_001257231.1):c.1600C>T (p.P534S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856282"	"0"	"30"	"X"	"110987987"	"110987987"	"subst"	"0"	"01943"	"ALG13_000077"	"g.110987987A>G"	""	""	""	"ALG13(NM_001257231.1):c.2553A>G (p.P851=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856283"	"0"	"30"	"X"	"111003038"	"111003038"	"subst"	"0.00000575083"	"01943"	"ALG13_000078"	"g.111003038G>A"	""	""	""	"ALG13(NM_001257231.1):c.2991G>A (p.G997=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866987"	"0"	"30"	"X"	"110973823"	"110973825"	"del"	"0"	"01943"	"ALG13_000076"	"g.110973823_110973825del"	""	""	""	"ALG13(NM_001257231.1):c.2223+15_2223+17delATA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895884"	"0"	"50"	"X"	"110951259"	"110951259"	"subst"	"0"	"02326"	"ALG13_000079"	"g.110951259C>G"	""	""	""	"ALG13(NM_001099922.3):c.388C>G (p.L130V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895885"	"0"	"30"	"X"	"110987993"	"110987998"	"del"	"0"	"02325"	"ALG13_000021"	"g.110987993_110987998del"	""	""	""	"ALG13(NM_001099922.3):c.2793_2798delACCACC (p.P944_P945del), ALG13(NM_001257231.1):c.2559_2564delACCACC (p.P866_P867del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895886"	"0"	"30"	"X"	"110987999"	"110987999"	"subst"	"0"	"02326"	"ALG13_000047"	"g.110987999T>A"	""	""	""	"ALG13(NM_001099922.3):c.2799T>A (p.P933=), ALG13(NM_001257231.1):c.2565T>A (p.P855=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895887"	"0"	"50"	"X"	"110988118"	"110988118"	"subst"	"0"	"02325"	"ALG13_000080"	"g.110988118G>T"	""	""	""	"ALG13(NM_001099922.3):c.2918G>T (p.S973I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895888"	"0"	"50"	"X"	"111003009"	"111003009"	"subst"	"0"	"02325"	"ALG13_000081"	"g.111003009T>C"	""	""	""	"ALG13(NM_001099922.3):c.3196T>C (p.Y1066H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895889"	"0"	"30"	"X"	"111003227"	"111003227"	"subst"	"0.000655069"	"02325"	"ALG13_000053"	"g.111003227A>C"	""	""	""	"ALG13(NM_001099922.3):c.3414A>C (p.*1138Yext*5), ALG13(NM_001257231.1):c.3180A>C (p.*1060Yext*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000908543"	"21"	"50"	"X"	"0"	"0"	""	"0"	"00006"	"USP9X_000005"	"g.?"	""	"{PMID:Zhou 2018:29314583}"	""	"c.374-5C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	"ACMG"
"0000915590"	"0"	"30"	"X"	"110987984"	"110987998"	"del"	"0"	"02326"	"ALG13_000082"	"g.110987984_110987998del"	""	""	""	"ALG13(NM_001099922.3):c.2784_2798delACCACCACCACCACC (p.P941_P945del)"	"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 ALG13
## Count = 105
"{{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}}"
"0000003175"	"00001514"	"50"	"2974"	"-95"	"2974"	"-95"	"c.2974-95del"	"r.(=)"	"p.(=)"	"25i"
"0000040322"	"00001514"	"70"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Asn107Ser)"	"2"
"0000079351"	"00001514"	"00"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Asn107Ser)"	""
"0000147298"	"00001514"	"90"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Asn107Ser)"	"3"
"0000188154"	"00001514"	"00"	"953"	"0"	"953"	"0"	"c.953G>A"	"r.(?)"	"p.(Arg318His)"	""
"0000188173"	"00001514"	"00"	"2383"	"0"	"2385"	"0"	"c.2383_2385del"	"r.(?)"	"p.(Glu795del)"	""
"0000188207"	"00001514"	"00"	"750"	"3"	"750"	"4"	"c.750+3_750+4insG"	"r.spl?"	"p.?"	""
"0000188211"	"00001514"	"00"	"1601"	"1"	"1601"	"1"	"c.1601+1G>T"	"r.spl?"	"p.?"	""
"0000188230"	"00001514"	"00"	"1834"	"0"	"1834"	"0"	"c.1834C>T"	"r.(?)"	"p.(Pro612Ser)"	""
"0000188254"	"00001514"	"00"	"2383"	"0"	"2385"	"0"	"c.2383_2385del"	"r.(?)"	"p.(Glu795del)"	""
"0000188403"	"00001514"	"00"	"1834"	"0"	"1834"	"0"	"c.1834C>T"	"r.(?)"	"p.(Pro612Ser)"	""
"0000188477"	"00001514"	"00"	"158"	"0"	"158"	"0"	"c.158C>A"	"r.(?)"	"p.(Thr53Asn)"	""
"0000251818"	"00001514"	"30"	"2769"	"0"	"2769"	"0"	"c.2769A>C"	"r.(?)"	"p.(Pro923=)"	""
"0000251819"	"00001514"	"30"	"3039"	"0"	"3039"	"0"	"c.3039A>G"	"r.(?)"	"p.(Val1013=)"	""
"0000254883"	"00001514"	"30"	"2796"	"0"	"2796"	"0"	"c.2796A>T"	"r.(?)"	"p.(Pro932=)"	""
"0000255036"	"00001514"	"30"	"541"	"0"	"541"	"0"	"c.541A>G"	"r.(?)"	"p.(Thr181Ala)"	""
"0000255113"	"00001514"	"30"	"3058"	"0"	"3058"	"0"	"c.3058A>G"	"r.(?)"	"p.(Thr1020Ala)"	""
"0000259038"	"00001514"	"10"	"1266"	"0"	"1266"	"0"	"c.1266T>C"	"r.(?)"	"p.(Gly422=)"	""
"0000335194"	"00001514"	"30"	"183"	"0"	"183"	"0"	"c.183C>T"	"r.(?)"	"p.(Tyr61=)"	""
"0000335196"	"00001514"	"30"	"383"	"2787"	"383"	"2787"	"c.383+2787G>T"	"r.(=)"	"p.(=)"	""
"0000335199"	"00001514"	"30"	"966"	"0"	"966"	"0"	"c.966A>T"	"r.(?)"	"p.(Lys322Asn)"	""
"0000335200"	"00001514"	"50"	"1804"	"0"	"1804"	"0"	"c.1804A>G"	"r.(?)"	"p.(Met602Val)"	""
"0000335202"	"00001514"	"30"	"2672"	"0"	"2672"	"0"	"c.2672C>T"	"r.(?)"	"p.(Ser891Phe)"	""
"0000335203"	"00001514"	"50"	"2796"	"0"	"2798"	"0"	"c.2796_2798dup"	"r.(?)"	"p.(Pro945dup)"	""
"0000335207"	"00001514"	"50"	"3106"	"0"	"3106"	"0"	"c.3106G>A"	"r.(?)"	"p.(Val1036Met)"	""
"0000335208"	"00001514"	"50"	"3314"	"0"	"3314"	"0"	"c.3314A>T"	"r.(?)"	"p.(Tyr1105Phe)"	""
"0000343557"	"00001514"	"90"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Asn107Ser)"	""
"0000344503"	"00001514"	"50"	"3328"	"0"	"3328"	"0"	"c.3328C>T"	"r.(?)"	"p.(Gln1110Ter)"	""
"0000400879"	"00001514"	"30"	"183"	"0"	"183"	"0"	"c.183C>T"	"r.(?)"	"p.(=)"	"2"
"0000573027"	"00001514"	"30"	"108"	"0"	"108"	"0"	"c.108A>G"	"r.(?)"	"p.(Arg36=)"	""
"0000573028"	"00001514"	"30"	"150"	"0"	"150"	"0"	"c.150C>T"	"r.(?)"	"p.(Pro50=)"	""
"0000573029"	"00001514"	"30"	"207"	"0"	"207"	"0"	"c.207A>C"	"r.(?)"	"p.(Glu69Asp)"	""
"0000573030"	"00001514"	"30"	"289"	"0"	"289"	"0"	"c.289G>A"	"r.(?)"	"p.(Val97Ile)"	""
"0000573032"	"00001514"	"50"	"383"	"2810"	"383"	"2810"	"c.383+2810T>C"	"r.(=)"	"p.(=)"	""
"0000573033"	"00001514"	"30"	"383"	"2854"	"383"	"2854"	"c.383+2854A>C"	"r.(=)"	"p.(=)"	""
"0000573034"	"00001514"	"30"	"1088"	"-12"	"1088"	"-12"	"c.1088-12T>A"	"r.(=)"	"p.(=)"	""
"0000573035"	"00001514"	"30"	"1834"	"0"	"1834"	"0"	"c.1834C>T"	"r.(?)"	"p.(Pro612Ser)"	""
"0000573036"	"00001514"	"30"	"2248"	"-4"	"2248"	"-4"	"c.2248-4A>G"	"r.spl?"	"p.?"	""
"0000573037"	"00001514"	"30"	"2383"	"0"	"2385"	"0"	"c.2383_2385del"	"r.(?)"	"p.(Glu795del)"	""
"0000573038"	"00001514"	"30"	"2383"	"0"	"2385"	"0"	"c.2383_2385del"	"r.(?)"	"p.(Glu795del)"	""
"0000573039"	"00001514"	"50"	"2395"	"0"	"2395"	"0"	"c.2395C>T"	"r.(?)"	"p.(Arg799Cys)"	""
"0000573040"	"00001514"	"30"	"2500"	"0"	"2500"	"0"	"c.2500A>G"	"r.(?)"	"p.(Thr834Ala)"	""
"0000573041"	"00001514"	"30"	"2606"	"0"	"2606"	"0"	"c.2606C>T"	"r.(?)"	"p.(Ala869Val)"	""
"0000573042"	"00001514"	"30"	"2617"	"0"	"2617"	"0"	"c.2617G>C"	"r.(?)"	"p.(Ala873Pro)"	""
"0000573043"	"00001514"	"30"	"2672"	"0"	"2672"	"0"	"c.2672C>T"	"r.(?)"	"p.(Ser891Phe)"	""
"0000573048"	"00001514"	"30"	"2796"	"0"	"2796"	"0"	"c.2796A>T"	"r.(?)"	"p.(Pro932=)"	""
"0000573049"	"00001514"	"30"	"2796"	"0"	"2798"	"0"	"c.2796_2798dup"	"r.(?)"	"p.(Pro945dup)"	""
"0000573052"	"00001514"	"10"	"2833"	"0"	"2835"	"0"	"c.2833_2835del"	"r.(?)"	"p.(Pro945del)"	""
"0000573053"	"00001514"	"30"	"2833"	"0"	"2835"	"0"	"c.2833_2835dup"	"r.(?)"	"p.(Pro945dup)"	""
"0000573054"	"00001514"	"30"	"2833"	"0"	"2835"	"0"	"c.2833_2835dup"	"r.(?)"	"p.(Pro945dup)"	""
"0000573056"	"00001514"	"50"	"3139"	"0"	"3139"	"0"	"c.3139T>C"	"r.(?)"	"p.(Ser1047Pro)"	""
"0000573057"	"00001514"	"30"	"3314"	"0"	"3314"	"0"	"c.3314A>T"	"r.(?)"	"p.(Tyr1105Phe)"	""
"0000573059"	"00001514"	"30"	"3414"	"0"	"3414"	"0"	"c.3414A>C"	"r.(?)"	"p.(Ter1138TyrextTer5)"	""
"0000618896"	"00001514"	"30"	"371"	"0"	"371"	"0"	"c.371A>G"	"r.(?)"	"p.(Tyr124Cys)"	""
"0000618897"	"00001514"	"50"	"899"	"0"	"899"	"0"	"c.899A>C"	"r.(?)"	"p.(Gln300Pro)"	""
"0000618898"	"00001514"	"30"	"1313"	"0"	"1313"	"0"	"c.1313C>A"	"r.(?)"	"p.(Thr438Lys)"	""
"0000618899"	"00001514"	"30"	"2213"	"0"	"2213"	"0"	"c.2213A>G"	"r.(?)"	"p.(Glu738Gly)"	""
"0000618900"	"00001514"	"10"	"2672"	"0"	"2672"	"0"	"c.2672C>T"	"r.(?)"	"p.(Ser891Phe)"	""
"0000618901"	"00001514"	"30"	"2781"	"0"	"2798"	"0"	"c.2781_2798del"	"r.(?)"	"p.(Pro940_Pro945del)"	""
"0000618903"	"00001514"	"30"	"2799"	"0"	"2799"	"0"	"c.2799T>A"	"r.(?)"	"p.(Pro933=)"	""
"0000624380"	"00001514"	"30"	"1505"	"0"	"1505"	"0"	"c.1505G>T"	"r.(?)"	"p.(Cys502Phe)"	""
"0000624381"	"00001514"	"30"	"2485"	"0"	"2485"	"0"	"c.2485A>G"	"r.(?)"	"p.(Met829Val)"	""
"0000624382"	"00001514"	"30"	"2796"	"0"	"2798"	"0"	"c.2796_2798dup"	"r.(?)"	"p.(Pro945dup)"	""
"0000659041"	"00001514"	"30"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.(?)"	"p.(Gly207Glu)"	""
"0000659042"	"00001514"	"30"	"2369"	"0"	"2369"	"0"	"c.2369G>A"	"r.(?)"	"p.(Gly790Glu)"	""
"0000659043"	"00001514"	"30"	"2383"	"0"	"2385"	"0"	"c.2383_2385del"	"r.(?)"	"p.(Glu795del)"	""
"0000659044"	"00001514"	"30"	"2796"	"0"	"2798"	"0"	"c.2796_2798del"	"r.(?)"	"p.(Pro945del)"	""
"0000659045"	"00001514"	"30"	"2898"	"0"	"2898"	"0"	"c.2898T>C"	"r.(?)"	"p.(Tyr966=)"	""
"0000659046"	"00001514"	"30"	"3291"	"0"	"3291"	"0"	"c.3291C>G"	"r.(?)"	"p.(Pro1097=)"	""
"0000682029"	"00001514"	"30"	"2685"	"0"	"2685"	"0"	"c.2685C>T"	"r.(?)"	"p.(His895=)"	""
"0000682030"	"00001514"	"30"	"2793"	"0"	"2798"	"0"	"c.2793_2798del"	"r.(?)"	"p.(Pro944_Pro945del)"	""
"0000682031"	"00001514"	"30"	"2798"	"0"	"2799"	"0"	"c.2798_2799insACCTCC"	"r.(?)"	"p.(Pro944_Pro945dup)"	""
"0000682032"	"00001514"	"30"	"3221"	"0"	"3221"	"0"	"c.3221A>G"	"r.(?)"	"p.(Tyr1074Cys)"	""
"0000693282"	"00001514"	"30"	"2376"	"0"	"2376"	"0"	"c.2376T>C"	"r.(?)"	"p.(Tyr792=)"	""
"0000693283"	"00001514"	"30"	"2898"	"0"	"2898"	"0"	"c.2898T>C"	"r.(?)"	"p.(Tyr966=)"	""
"0000693285"	"00001514"	"30"	"3093"	"0"	"3093"	"0"	"c.3093A>G"	"r.(?)"	"p.(Gln1031=)"	""
"0000693286"	"00001514"	"30"	"3093"	"0"	"3093"	"0"	"c.3093A>G"	"r.(?)"	"p.(Gln1031=)"	""
"0000698201"	"00001514"	"70"	"365"	"0"	"365"	"0"	"c.365T>G"	"r.(?)"	"p.(Leu122Arg)"	""
"0000728340"	"00001514"	"50"	"1481"	"0"	"1481"	"0"	"c.1481A>G"	"r.(?)"	"p.(Tyr494Cys)"	""
"0000728341"	"00001514"	"30"	"1834"	"0"	"1834"	"0"	"c.1834C>T"	"r.(?)"	"p.(Pro612Ser)"	""
"0000728342"	"00001514"	"50"	"2351"	"0"	"2351"	"0"	"c.2351A>T"	"r.(?)"	"p.(Asn784Ile)"	""
"0000728343"	"00001514"	"30"	"2383"	"0"	"2385"	"0"	"c.2383_2385del"	"r.(?)"	"p.(Glu795del)"	""
"0000728344"	"00001514"	"30"	"2617"	"0"	"2617"	"0"	"c.2617G>C"	"r.(?)"	"p.(Ala873Pro)"	""
"0000728345"	"00001514"	"50"	"2824"	"0"	"2835"	"0"	"c.2824_2835del"	"r.(?)"	"p.(Pro942_Pro945del)"	""
"0000728346"	"00001514"	"10"	"2833"	"0"	"2835"	"0"	"c.2833_2835del"	"r.(?)"	"p.(Pro945del)"	""
"0000728347"	"00001514"	"30"	"3414"	"0"	"3414"	"0"	"c.3414A>C"	"r.(?)"	"p.(Ter1138TyrextTer5)"	""
"0000786732"	"00001514"	"90"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Asn107Ser)"	"3"
"0000809791"	"00001514"	"30"	"1305"	"0"	"1305"	"0"	"c.1305T>G"	"r.(?)"	"p.(Asn435Lys)"	""
"0000809792"	"00001514"	"30"	"2248"	"-4"	"2248"	"-4"	"c.2248-4A>G"	"r.spl?"	"p.?"	""
"0000809793"	"00001514"	"30"	"2485"	"0"	"2485"	"0"	"c.2485A>G"	"r.(?)"	"p.(Met829Val)"	""
"0000809794"	"00001514"	"30"	"2685"	"0"	"2685"	"0"	"c.2685C>T"	"r.(?)"	"p.(His895=)"	""
"0000809795"	"00001514"	"30"	"2796"	"0"	"2798"	"0"	"c.2796_2798del"	"r.(?)"	"p.(Pro945del)"	""
"0000813811"	"00001514"	"50"	"2248"	"-4"	"2248"	"-4"	"c.2248-4A>G"	"r.spl?"	"p.?"	""
"0000856281"	"00001514"	"30"	"1834"	"0"	"1834"	"0"	"c.1834C>T"	"r.(?)"	"p.(Pro612Ser)"	""
"0000856282"	"00001514"	"30"	"2787"	"0"	"2787"	"0"	"c.2787A>G"	"r.(?)"	"p.(Pro929=)"	""
"0000856283"	"00001514"	"30"	"3225"	"0"	"3225"	"0"	"c.3225G>A"	"r.(?)"	"p.(Gly1075=)"	""
"0000866987"	"00001514"	"30"	"2457"	"15"	"2457"	"17"	"c.2457+15_2457+17del"	"r.(=)"	"p.(=)"	""
"0000895884"	"00001514"	"50"	"388"	"0"	"388"	"0"	"c.388C>G"	"r.(?)"	"p.(Leu130Val)"	""
"0000895885"	"00001514"	"30"	"2793"	"0"	"2798"	"0"	"c.2793_2798del"	"r.(?)"	"p.(Pro944_Pro945del)"	""
"0000895886"	"00001514"	"30"	"2799"	"0"	"2799"	"0"	"c.2799T>A"	"r.(?)"	"p.(Pro933=)"	""
"0000895887"	"00001514"	"50"	"2918"	"0"	"2918"	"0"	"c.2918G>T"	"r.(?)"	"p.(Ser973Ile)"	""
"0000895888"	"00001514"	"50"	"3196"	"0"	"3196"	"0"	"c.3196T>C"	"r.(?)"	"p.(Tyr1066His)"	""
"0000895889"	"00001514"	"30"	"3414"	"0"	"3414"	"0"	"c.3414A>C"	"r.(?)"	"p.(Ter1138TyrextTer5)"	""
"0000908543"	"00001514"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000915590"	"00001514"	"30"	"2784"	"0"	"2798"	"0"	"c.2784_2798del"	"r.(?)"	"p.(Pro941_Pro945del)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000003175"
"0000019862"	"0000040322"
"0000050371"	"0000079351"
"0000089361"	"0000147298"
"0000117309"	"0000188154"
"0000117328"	"0000188173"
"0000117362"	"0000188207"
"0000117366"	"0000188211"
"0000117385"	"0000188230"
"0000117403"	"0000188477"
"0000117409"	"0000188254"
"0000117493"	"0000188403"
"0000174105"	"0000400879"
"0000316075"	"0000698201"
"0000375381"	"0000786732"
"0000386333"	"0000813811"
"0000429121"	"0000908543"