### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KLHL15)
# 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}}"
"KLHL15"	"kelch-like 15 (Drosophila)"	"X"	"p22.1-p21"	"unknown"	"NG_012625.1"	"UD_132085316061"	""	"https://www.LOVD.nl/KLHL15"	""	"1"	"29347"	"80311"	"300980"	"1"	"1"	"1"	"1"	"This gene sequence variant database has been initiated based on the data reported by <a href=\"http://www.ncbi.nlm.nih.gov/pubmed/19377476\">Tarpey et al. (2009) <i>A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543</i></a>. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.<BR>Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/KLHL15_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2009-03-06 14:29:48"	"00006"	"2018-01-12 19:12:44"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00000411"	"KLHL15"	"kelch-like 15 (Drosophila)"	"001"	"NM_030624.2"	""	"NP_085127.2"	""	""	""	"-256"	"6020"	"1815"	"24001833"	"24045303"	"00000"	"2012-09-13 12:12:39"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"	"2024-11-23 09:38:12"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05740"	"XLID103"	"intellectual developmental disorder, X-linked, type 103"	"XLR"	"300982"	""	""	""	"00006"	"2020-05-11 15:12:58"	"00006"	"2023-10-23 16:36:10"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"KLHL15"	"05740"


## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00150208"	""	""	""	"1"	""	"00006"	"{PMID:Karaca 2015:26539891}"	""	""	""	""	""	"0"	"family structure in paper"	""	""	"26539891-FamBAB4633"
"00172912"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00172913"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00183179"	""	""	""	"8"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 8 affected, 4 unaffected heterozygous carrier females"	"M"	""	""	""	"0"	""	""	""	"25644381-FamD60"
"00385982"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Germany"	""	"0"	""	""	""	"167926"
"00438747"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Turkey"	""	"0"	""	""	""	"273182"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00150208"	"00198"
"00172912"	"00187"
"00172913"	"00187"
"00183179"	"00187"
"00385982"	"05740"
"00438747"	"05740"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 05740
## Count = 8
"{{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}}"
"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"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000122610"	"00198"	"00150208"	"00006"	"Unknown"	""	"intellectual diability, facial asymmetry, CCA, cortical atrophy, seizures, hypergonadotropic hypogonadism, thyroid dysplasia"	""	""	""	""	""	""	""	""	""	""	""	""
"0000137776"	"00187"	"00172912"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137777"	"00187"	"00172913"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000143933"	"00187"	"00183179"	"00006"	"Familial, X-linked recessive"	""	"mild to moderate ID, mild facial features"	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000279783"	"05740"	"00385982"	"01164"	"Familial, X-linked"	"04y"	"Global developmental delay, Delayed speech and language development, Strabismus, Microcephaly, Constipation, Decreased small intestinal mucosa lactase level, Equinus calcaneus"	""	""	""	""	""	""	""	""	""	""	""	""
"0000328645"	"05740"	"00438747"	"01164"	"Unknown"	"04y"	"Atypical behavior, Delayed speech and language development, Abnormality of skin pigmentation, Intellectual disability, Neurodevelopmental delay"	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{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"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000151063"	"00150208"	"1"	"00006"	"00006"	"2018-01-13 12:41:38"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000173795"	"00172912"	"1"	"00124"	"00006"	"2009-05-08 12:40:34"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000173796"	"00172913"	"1"	"00124"	"00006"	"2009-05-08 12:40:34"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000184137"	"00183179"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000387210"	"00385982"	"1"	"01164"	"01164"	"2021-10-19 13:19:59"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000440229"	"00438747"	"1"	"01164"	"01164"	"2023-10-23 14:11:00"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000151063"	"KLHL15"
"0000173795"	"HUWE1"
"0000173796"	"HUWE1"
"0000184137"	"KLHL15"
"0000387210"	"KLHL15"
"0000440229"	"KLHL15"


## 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 = 38
"{{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}}"
"0000001834"	"20"	"50"	"X"	"24002510"	"24002510"	"del"	"0"	"00037"	"KLHL15_000003"	"g.24002510del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.23984393del"	""	"VUS"	""
"0000002848"	"20"	"50"	"X"	"24002507"	"24002507"	"del"	"0"	"00037"	"KLHL15_000005"	"g.24002507del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.23984390del"	""	"VUS"	""
"0000008552"	"20"	"50"	"X"	"24002510"	"24002510"	"del"	"0"	"00037"	"KLHL15_000003"	"g.24002510del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.23984393del"	""	"VUS"	""
"0000010847"	"20"	"50"	"X"	"24002507"	"24002507"	"del"	"0"	"00037"	"KLHL15_000005"	"g.24002507del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.23984390del"	""	"VUS"	""
"0000244229"	"1"	"90"	"X"	"24006379"	"24006379"	"subst"	"0"	"00006"	"KLHL15_000006"	"g.24006379C>T"	""	"{PMID:Karaca 2015:26539891}"	""	"NM_030624: c.G1474A; p.V492I"	""	"Germline"	""	""	"0"	""	""	"g.23988262C>T"	""	"pathogenic"	""
"0000290409"	"0"	"50"	"X"	"24024510"	"24024510"	"subst"	"0.000151121"	"01943"	"KLHL15_000008"	"g.24024510C>T"	""	""	""	"KLHL15(NM_030624.2):c.301G>A (p.V101I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.24006393C>T"	""	"VUS"	""
"0000333446"	"0"	"50"	"X"	"24006757"	"24006757"	"subst"	"0"	"01804"	"KLHL15_000007"	"g.24006757A>C"	""	""	""	"KLHL15(NM_030624.3):c.1096T>G (p.(Ser366Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.23988640A>C"	""	"VUS"	""
"0000394034"	"1"	"50"	"X"	"24006074"	"24006074"	"subst"	"1.71309E-5"	"00124"	"KLHL15_000009"	"g.24006074C>T"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"P593P"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.23987957C>T"	""	"VUS"	""
"0000394035"	"1"	"50"	"X"	"24007134"	"24007139"	"del"	"0"	"00124"	"KLHL15_000010"	"g.24007134_24007139del"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"716_721delCAGAAT"	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.23989017_23989022del"	""	"VUS"	""
"0000408106"	"21"	"90"	"X"	"24006673"	"24006673"	"del"	"0"	"00006"	"KLHL15_000011"	"g.24006673del"	""	"{PMID:Hu 2016:25644381}"	""	"Tyr394Ilefs*61"	""	"Germline"	"yes"	""	"0"	""	""	"g.23988556del"	""	"pathogenic (recessive)"	""
"0000575333"	"0"	"50"	"X"	"24007033"	"24007033"	"subst"	"1.12035E-5"	"02327"	"KLHL15_000012"	"g.24007033G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23988916G>A"	""	"VUS"	""
"0000575334"	"0"	"50"	"X"	"24024210"	"24024210"	"subst"	"0"	"01943"	"KLHL15_000013"	"g.24024210C>A"	""	""	""	"KLHL15(NM_030624.2):c.601G>T (p.V201L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24006093C>A"	""	"VUS"	""
"0000575335"	"0"	"50"	"X"	"24024240"	"24024240"	"subst"	"5.59528E-6"	"02329"	"KLHL15_000014"	"g.24024240T>C"	""	""	""	"KLHL15(NM_030624.3):c.571A>G (p.R191G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24006123T>C"	""	"VUS"	""
"0000575336"	"0"	"30"	"X"	"24024394"	"24024394"	"subst"	"1.11899E-5"	"01943"	"KLHL15_000015"	"g.24024394G>C"	""	""	""	"KLHL15(NM_030624.2):c.417C>G (p.L139=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24006277G>C"	""	"likely benign"	""
"0000575337"	"0"	"50"	"X"	"24024434"	"24024434"	"subst"	"0"	"01943"	"KLHL15_000016"	"g.24024434G>C"	""	""	""	"KLHL15(NM_030624.2):c.377C>G (p.A126G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24006317G>C"	""	"VUS"	""
"0000575338"	"0"	"30"	"X"	"24043179"	"24043179"	"subst"	"0"	"01804"	"KLHL15_000017"	"g.24043179G>A"	""	""	""	"KLHL15(NM_030624.2):c.-209-4C>T, KLHL15(NM_030624.3):c.-209-4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24025062G>A"	""	"likely benign"	""
"0000619417"	"0"	"50"	"X"	"24006123"	"24006123"	"subst"	"5.59675E-6"	"01943"	"KLHL15_000018"	"g.24006123C>T"	""	""	""	"KLHL15(NM_030624.2):c.1730G>A (p.R577Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23988006C>T"	""	"VUS"	""
"0000619418"	"0"	"30"	"X"	"24006301"	"24006301"	"subst"	"5.59841E-6"	"01943"	"KLHL15_000019"	"g.24006301C>G"	""	""	""	"KLHL15(NM_030624.2):c.1552G>C (p.E518Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23988184C>G"	""	"likely benign"	""
"0000619420"	"0"	"30"	"X"	"24006704"	"24006704"	"subst"	"0.000118158"	"01943"	"KLHL15_000022"	"g.24006704G>A"	""	""	""	"KLHL15(NM_030624.2):c.1149C>T (p.A383=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23988587G>A"	""	"likely benign"	""
"0000619421"	"0"	"30"	"X"	"24024739"	"24024739"	"subst"	"0"	"01943"	"KLHL15_000023"	"g.24024739C>T"	""	""	""	"KLHL15(NM_030624.2):c.72G>A (p.L24=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24006622C>T"	""	"likely benign"	""
"0000619422"	"0"	"30"	"X"	"24043179"	"24043179"	"subst"	"0"	"01943"	"KLHL15_000017"	"g.24043179G>A"	""	""	""	"KLHL15(NM_030624.2):c.-209-4C>T, KLHL15(NM_030624.3):c.-209-4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.24025062G>A"	""	"likely benign"	""
"0000624567"	"0"	"30"	"X"	"24006677"	"24006677"	"subst"	"0.000134676"	"01943"	"KLHL15_000021"	"g.24006677A>G"	""	""	""	"KLHL15(NM_030624.2):c.1176T>C (p.T392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.23988560A>G"	""	"likely benign"	""
"0000682353"	"0"	"50"	"X"	"24007010"	"24007010"	"subst"	"0"	"01943"	"KLHL15_000024"	"g.24007010T>G"	""	""	""	"KLHL15(NM_030624.2):c.843A>C (p.Q281H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682354"	"0"	"50"	"X"	"24024366"	"24024366"	"subst"	"0"	"02325"	"KLHL15_000025"	"g.24024366C>T"	""	""	""	"KLHL15(NM_030624.3):c.445G>A (p.G149R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682355"	"0"	"30"	"X"	"24024505"	"24024505"	"subst"	"0"	"01943"	"KLHL15_000026"	"g.24024505A>C"	""	""	""	"KLHL15(NM_030624.2):c.306T>G (p.H102Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693534"	"0"	"30"	"X"	"24024511"	"24024511"	"subst"	"0.000145514"	"01943"	"KLHL15_000027"	"g.24024511G>T"	""	""	""	"KLHL15(NM_030624.2):c.300C>A (p.T100=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728783"	"0"	"50"	"X"	"24006552"	"24006552"	"subst"	"0"	"02329"	"KLHL15_000020"	"g.24006552A>T"	""	""	""	"KLHL15(NM_030624.3):c.1301T>A (p.I434N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728784"	"0"	"70"	"X"	"24024779"	"24024782"	"del"	"0"	"02327"	"KLHL15_000028"	"g.24024779_24024782del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000810248"	"0"	"30"	"X"	"24024382"	"24024382"	"subst"	"1.11909E-5"	"01943"	"KLHL15_000029"	"g.24024382G>A"	""	""	""	"KLHL15(NM_030624.2):c.429C>T (p.F143=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810249"	"0"	"30"	"X"	"24024613"	"24024613"	"subst"	"0.00012309"	"01943"	"KLHL15_000030"	"g.24024613T>C"	""	""	""	"KLHL15(NM_030624.2):c.198A>G (p.E66=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000815091"	"20"	"70"	"X"	"24024056"	"24024859"	"del"	"0"	"01164"	"KLHL15_000031"	"g.24024056_24024859del"	""	""	""	""	"ACMG: PVS1, PM2_SUP"	"Germline"	"?"	""	"0"	""	""	"g.24005939_24006742del"	""	"likely pathogenic"	"ACMG"
"0000856528"	"0"	"50"	"X"	"24007003"	"24007003"	"subst"	"5.59632E-6"	"01943"	"KLHL15_000032"	"g.24007003C>T"	""	""	""	"KLHL15(NM_030624.2):c.850G>A (p.V284I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867282"	"0"	"50"	"X"	"24024135"	"24024135"	"subst"	"0"	"01943"	"KLHL15_000033"	"g.24024135A>T"	""	""	""	"KLHL15(NM_030624.2):c.676T>A (p.L226M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896069"	"0"	"50"	"X"	"24006420"	"24006420"	"subst"	"0"	"01804"	"KLHL15_000034"	"g.24006420C>G"	""	""	""	"KLHL15(NM_030624.2):c.1433G>C (p.(Arg478Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000936537"	"21"	"50"	"X"	"24006427"	"24006427"	"subst"	"0"	"01164"	"KLHL15_000035"	"g.24006427A>G"	""	""	""	""	"ACMG: PM2_Sup, PP2"	"Germline"	"?"	""	"0"	""	""	"g.23988310A>G"	""	"VUS"	"ACMG"
"0000951734"	"0"	"50"	"X"	"24006351"	"24006351"	"subst"	"0"	"02327"	"KLHL15_000036"	"g.24006351C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044261"	"0"	"50"	"X"	"24024129"	"24024129"	"subst"	"5.69943E-6"	"01804"	"KLHL15_000037"	"g.24024129T>A"	""	""	""	"KLHL15(NM_030624.3):c.682A>T (p.(Thr228Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001067616"	"0"	"30"	"X"	"24043179"	"24043179"	"subst"	"0"	"02325"	"KLHL15_000017"	"g.24043179G>A"	""	""	""	"KLHL15(NM_030624.2):c.-209-4C>T, KLHL15(NM_030624.3):c.-209-4C>T"	"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 KLHL15
## Count = 38
"{{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}}"
"0000001834"	"00000411"	"50"	"5345"	"0"	"5345"	"0"	"c.*3530del"	"r.(=)"	"p.(=)"	""
"0000002848"	"00000411"	"50"	"5346"	"0"	"5346"	"0"	"c.*3531del"	"r.(=)"	"p.(=)"	""
"0000008552"	"00000411"	"50"	"5345"	"0"	"5345"	"0"	"c.*3530del"	"r.(=)"	"p.(=)"	""
"0000010847"	"00000411"	"50"	"5346"	"0"	"5346"	"0"	"c.*3531del"	"r.(=)"	"p.(=)"	""
"0000244229"	"00000411"	"90"	"1474"	"0"	"1474"	"0"	"c.1474G>A"	"r.(?)"	"p.(Val492Ile)"	""
"0000290409"	"00000411"	"50"	"301"	"0"	"301"	"0"	"c.301G>A"	"r.(?)"	"p.(Val101Ile)"	""
"0000333446"	"00000411"	"50"	"1096"	"0"	"1096"	"0"	"c.1096T>G"	"r.(?)"	"p.(Ser366Ala)"	""
"0000394034"	"00000411"	"50"	"1779"	"0"	"1779"	"0"	"c.1779G>A"	"r.(=)"	"p.(=)"	""
"0000394035"	"00000411"	"50"	"716"	"0"	"721"	"0"	"c.716_721del"	"r.(?)"	"p.(Ser239_Glu240del)"	""
"0000408106"	"00000411"	"90"	"1180"	"0"	"1180"	"0"	"c.(1180del)"	"r.(?)"	"p.(Tyr394Ilefs*61)"	"4"
"0000575333"	"00000411"	"50"	"820"	"0"	"820"	"0"	"c.820C>T"	"r.(?)"	"p.(Arg274Cys)"	""
"0000575334"	"00000411"	"50"	"601"	"0"	"601"	"0"	"c.601G>T"	"r.(?)"	"p.(Val201Leu)"	""
"0000575335"	"00000411"	"50"	"571"	"0"	"571"	"0"	"c.571A>G"	"r.(?)"	"p.(Arg191Gly)"	""
"0000575336"	"00000411"	"30"	"417"	"0"	"417"	"0"	"c.417C>G"	"r.(?)"	"p.(Leu139=)"	""
"0000575337"	"00000411"	"50"	"377"	"0"	"377"	"0"	"c.377C>G"	"r.(?)"	"p.(Ala126Gly)"	""
"0000575338"	"00000411"	"30"	"-209"	"-4"	"-209"	"-4"	"c.-209-4C>T"	"r.spl?"	"p.?"	""
"0000619417"	"00000411"	"50"	"1730"	"0"	"1730"	"0"	"c.1730G>A"	"r.(?)"	"p.(Arg577Gln)"	""
"0000619418"	"00000411"	"30"	"1552"	"0"	"1552"	"0"	"c.1552G>C"	"r.(?)"	"p.(Glu518Gln)"	""
"0000619420"	"00000411"	"30"	"1149"	"0"	"1149"	"0"	"c.1149C>T"	"r.(?)"	"p.(Ala383=)"	""
"0000619421"	"00000411"	"30"	"72"	"0"	"72"	"0"	"c.72G>A"	"r.(?)"	"p.(Leu24=)"	""
"0000619422"	"00000411"	"30"	"-209"	"-4"	"-209"	"-4"	"c.-209-4C>T"	"r.spl?"	"p.?"	""
"0000624567"	"00000411"	"30"	"1176"	"0"	"1176"	"0"	"c.1176T>C"	"r.(?)"	"p.(Thr392=)"	""
"0000682353"	"00000411"	"50"	"843"	"0"	"843"	"0"	"c.843A>C"	"r.(?)"	"p.(Gln281His)"	""
"0000682354"	"00000411"	"50"	"445"	"0"	"445"	"0"	"c.445G>A"	"r.(?)"	"p.(Gly149Arg)"	""
"0000682355"	"00000411"	"30"	"306"	"0"	"306"	"0"	"c.306T>G"	"r.(?)"	"p.(His102Gln)"	""
"0000693534"	"00000411"	"30"	"300"	"0"	"300"	"0"	"c.300C>A"	"r.(?)"	"p.(Thr100=)"	""
"0000728783"	"00000411"	"50"	"1301"	"0"	"1301"	"0"	"c.1301T>A"	"r.(?)"	"p.(Ile434Asn)"	""
"0000728784"	"00000411"	"70"	"30"	"0"	"33"	"0"	"c.30_33del"	"r.(?)"	"p.(Ile12Thrfs*52)"	""
"0000810248"	"00000411"	"30"	"429"	"0"	"429"	"0"	"c.429C>T"	"r.(?)"	"p.(Phe143=)"	""
"0000810249"	"00000411"	"30"	"198"	"0"	"198"	"0"	"c.198A>G"	"r.(?)"	"p.(Glu66=)"	""
"0000815091"	"00000411"	"70"	"-7"	"-42"	"705"	"50"	"c.-7-42_705+50del"	"r.?"	"p.?"	""
"0000856528"	"00000411"	"50"	"850"	"0"	"850"	"0"	"c.850G>A"	"r.(?)"	"p.(Val284Ile)"	""
"0000867282"	"00000411"	"50"	"676"	"0"	"676"	"0"	"c.676T>A"	"r.(?)"	"p.(Leu226Met)"	""
"0000896069"	"00000411"	"50"	"1433"	"0"	"1433"	"0"	"c.1433G>C"	"r.(?)"	"p.(Arg478Thr)"	""
"0000936537"	"00000411"	"50"	"1426"	"0"	"1426"	"0"	"c.1426T>C"	"r.(?)"	"p.(Tyr476His)"	""
"0000951734"	"00000411"	"50"	"1502"	"0"	"1502"	"0"	"c.1502G>A"	"r.(?)"	"p.(Arg501Lys)"	""
"0001044261"	"00000411"	"50"	"682"	"0"	"682"	"0"	"c.682A>T"	"r.(?)"	"p.(Thr228Ser)"	""
"0001067616"	"00000411"	"30"	"-209"	"-4"	"-209"	"-4"	"c.-209-4C>T"	"r.spl?"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000001834"
"0000000209"	"0000002848"
"0000000210"	"0000008552"
"0000000210"	"0000010847"
"0000151063"	"0000244229"
"0000173795"	"0000394034"
"0000173796"	"0000394035"
"0000184137"	"0000408106"
"0000387210"	"0000815091"
"0000440229"	"0000936537"