### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KAL1)
# 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}}"
"KAL1" "Kallmann syndrome 1 sequence" "X" "p22.32" "unknown" "NC_000023.10" "UD_132118310680" "" "http://www.LOVD.nl/KAL1" "" "1" "6211" "3730" "300836" "1" "1" "1" "1" "NOTE: gene name changed from KAL1 to ANOS1\r\nEstablishment of this gene variant dataase was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/KAL1_codingDNA.html" "1" "" "NOTE: gene name changed from KAL1 to ANOS1" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-11-02 19:05:20" "00000" "2025-05-05 21:14:00"
## 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}}"
"00000856" "KAL1" "Kallmann syndrome 1 sequence" "001" "NM_000216.2" "" "NP_000207.2" "" "" "" "-150" "6164" "2043" "8496915" "8700227" "00000" "2012-09-13 12:55:42" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"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"
"01053" "HH1;KAL1" "hypogonadism, hypogonadotropic, type 1, with/without anosmia (Kallmann syndrome)" "XLR" "308700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-17 21:44:29"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01557" "-" "dysplasia, septo-optic" "AD;AR" "182230" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26"
"05198" "KAL" "Kallmann syndrome (KAL)" "" "" "" "" "" "00006" "2016-10-21 14:34:27" "" ""
"05284" "ANI" "anosmia, isolated (ANI)" "" "" "" "" "" "00006" "2017-06-16 19:42:14" "" ""
"05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20"
"05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"KAL1" "01053"
## Individuals ## Do not remove or alter this header ##
## Count = 20
"{{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" "" "" "" ""
"00037751" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377180-Pat?"
"00037752" "" "" "" "92" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377181-Pat?"
"00037753" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377182-Pat?"
"00037754" "" "" "" "100" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377183-Pat?"
"00037755" "" "" "" "1" "" "01285" "" "" "M" "no" "(China)" "" "0" "" "" "Han Chinese" ""
"00037756" "" "" "" "1" "" "01286" "" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00037757" "" "" "" "1" "" "01284" "" "" "M" "" "Belgium" "" "0" "" "" "European" ""
"00037758" "" "" "" "2" "" "01286" "" "variant detected in two sisters" "F" "no" "Australia" "" "0" "" "" "African/white" ""
"00039390" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00081734" "" "" "" "1" "" "00006" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "targeted sequencing in 386 Kallmann syndrome patients, 1 affected" "M" "" "France" "" "0" "" "" "" ""
"00104952" "" "" "" "1" "" "02034" "" "" "M" "?" "Israel" "" "0" "" "" "Jewish" ""
"00231456" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat76"
"00231472" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat108"
"00231501" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat172"
"00316110" "" "" "" "2" "" "00006" "{PMID:Heidet 2017:28566479}" "affected fetus and 1st degree relative" "" "" "France" "" "0" "" "" "" "K158"
"00316145" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K26"
"00395575" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1018"
"00435425" "" "" "" "1" "cc_by-nc-nd_4.0;0" "04531" "" "" "M" "no" "Poland" "" "0" "" "none" "white" "patient"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 21
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00037751" "00187"
"00037752" "00187"
"00037753" "00187"
"00037754" "00187"
"00037755" "01053"
"00037756" "01557"
"00037757" "01053"
"00037758" "01557"
"00039390" "00139"
"00039390" "04282"
"00081734" "05198"
"00104952" "05284"
"00231456" "05597"
"00231472" "05597"
"00231501" "05597"
"00316110" "05342"
"00316145" "05342"
"00395575" "04214"
"00435425" "05198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01053, 01157, 01557, 04214, 04282, 05198, 05284, 05342, 05597
## Count = 20
"{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000028302" "00187" "00037751" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000028303" "00187" "00037752" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000028304" "00187" "00037753" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000028305" "00187" "00037754" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000028306" "01053" "00037755" "01285" "Familial, X-linked recessive" "29y" "hypogonadotropic hypogonadism, anosmia or hyposmia, no mental retardation" "" "" "" "" "" "" "" "" "" ""
"0000028307" "01557" "00037756" "01286" "Unknown" "" "ectopic posterior pituitary and bilateral optic nerve hypoplasia. ACTH, TSH and GH deficiency. Poor response to GnRH, puberty induced." "" "" "" "" "" "" "" "" "" ""
"0000028308" "01053" "00037757" "01284" "Unknown" "13y" "hypogonatropic hypogonadism, anosmy, cryptorchidism" "" "" "" "" "" "" "" "" "" ""
"0000028309" "01557" "00037758" "01286" "Unknown" "" "elder sibling had bilateral optic nerve hypoplasia, hypoplastic optic chiasm and cavum septum pellucidum; younger sibling also presented the first two characteristics, plus a thinning corpus callosum, anterior pituitary hypoplasia and an absent posterior pituitary." "" "" "" "" "" "" "" "" "" ""
"0000034042" "04282" "00039390" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ""
"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" "" "" "" "" "" "" ""
"0000061377" "05198" "00081734" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ""
"0000082946" "05284" "00104952" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ""
"0000173847" "05597" "00231456" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development"
"0000173863" "05597" "00231472" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development"
"0000173892" "05597" "00231501" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development"
"0000239857" "05342" "00316110" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis"
"0000239892" "05342" "00316145" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis"
"0000288773" "04214" "00395575" "00000" "Unknown" "" "astigmatism, early onset rod-cone dystrophy, hypermetropia, strabismus, global developmental delay, tip-toe gait, talipes equinovarus, anteverted nares, broad nasal tip, depressed nasal bridge, hypertelorism, long philtrum, low anterior hairline, narrow palate, retrognathia, thin vermilion border" "" "" "" "" "" "" "" "" "Early-onset retinitis pigmentosa, deletion syndrome" ""
"0000325619" "05198" "00435425" "04531" "Familial, X-linked dominant" "13y" "" "" "" "13y" "" "" "" "" "" "HH1" "Kallmann syndrome"
## Screenings ## Do not remove or alter this header ##
## Count = 20
"{{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" "" ""
"0000037984" "00037751" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2014-02-18 21:41:55" "SEQ" "DNA" "" ""
"0000037985" "00037752" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2014-02-18 21:41:55" "SEQ" "DNA" "" ""
"0000037986" "00037753" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2014-02-18 21:41:55" "SEQ" "DNA" "" ""
"0000037987" "00037754" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2014-02-18 21:41:55" "SEQ" "DNA" "" ""
"0000037988" "00037755" "1" "01285" "00006" "2014-02-18 16:33:30" "00006" "2014-02-18 21:41:55" "SEQ" "DNA" "" ""
"0000037989" "00037756" "1" "01286" "00006" "2014-12-31 04:44:38" "00006" "2015-02-20 22:15:09" "SEQ" "DNA" "" ""
"0000037990" "00037757" "1" "01284" "00006" "2015-04-14 16:08:49" "" "" "SEQ" "DNA" "" ""
"0000037991" "00037758" "1" "01286" "00006" "2014-12-31 04:55:14" "00006" "2015-02-20 22:17:15" "SEQ" "DNA" "" ""
"0000039631" "00039390" "1" "01158" "01158" "2015-06-15 13:16:06" "" "" "SEQ-NG" "DNA" "" ""
"0000081863" "00081734" "1" "00006" "00006" "2016-10-21 15:10:40" "" "" "SEQ" "DNA" "" ""
"0000105427" "00104952" "1" "02034" "02034" "2017-06-13 06:01:12" "" "" "SEQ-NG-IT" "DNA" "" ""
"0000232555" "00231456" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel"
"0000232571" "00231472" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel"
"0000232600" "00231501" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel"
"0000317292" "00316110" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel"
"0000317327" "00316145" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel"
"0000396813" "00395575" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing | aCGH"
"0000436906" "00435425" "1" "04531" "04531" "2023-07-25 12:35:00" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 17
"{{screeningid}}" "{{geneid}}"
"0000037984" "KAL1"
"0000037985" "KAL1"
"0000037986" "KAL1"
"0000037987" "KAL1"
"0000037988" "KAL1"
"0000037989" "KAL1"
"0000037990" "KAL1"
"0000037991" "KAL1"
"0000081863" "KAL1"
"0000081863" "SEMA3A"
"0000232555" "KAL1"
"0000232571" "KAL1"
"0000232600" "KAL1"
"0000317292" "KAL1"
"0000317327" "KAL1"
"0000396813" "NLGN4X"
"0000436906" "KAL1"
## 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 = 88
"{{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}}"
"0000006265" "20" "30" "X" "8498979" "8498979" "subst" "0" "00037" "KAL1_000010" "g.8498979G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8530938G>A" "" "likely benign" ""
"0000006266" "20" "30" "X" "8503641" "8503641" "subst" "0.554308" "00037" "KAL1_000004" "g.8503641G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8535600G>A" "" "likely benign" ""
"0000006267" "20" "50" "X" "8504773" "8504773" "subst" "0.553946" "00037" "KAL1_000008" "g.8504773G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.8536732G>T" "" "VUS" ""
"0000006268" "20" "30" "X" "8504833" "8504833" "subst" "0.557709" "00037" "KAL1_000002" "g.8504833C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8536792C>T" "" "likely benign" ""
"0000008275" "20" "30" "X" "8498979" "8498979" "subst" "0" "00037" "KAL1_000010" "g.8498979G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8530938G>A" "" "likely benign" ""
"0000008276" "20" "30" "X" "8503641" "8503641" "subst" "0.554308" "00037" "KAL1_000004" "g.8503641G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8535600G>A" "" "likely benign" ""
"0000008277" "20" "50" "X" "8504773" "8504773" "subst" "0.553946" "00037" "KAL1_000008" "g.8504773G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.8536732G>T" "" "VUS" ""
"0000008278" "20" "30" "X" "8504833" "8504833" "subst" "0.557709" "00037" "KAL1_000002" "g.8504833C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8536792C>T" "" "likely benign" ""
"0000014225" "20" "30" "X" "8700168" "8700168" "subst" "0" "00037" "KAL1_000009" "g.8700168A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8732127A>C" "" "likely benign" ""
"0000065294" "1" "50" "X" "8504901" "8504901" "subst" "0.00154867" "00124" "KAL1_000001" "g.8504901G>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.8536860G>T" "" "VUS" ""
"0000065295" "1" "50" "X" "8504833" "8504833" "subst" "0.557709" "00124" "KAL1_000002" "g.8504833C>T" "92/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 92 times" "Germline" "" "" "0" "" "" "g.8536792C>T" "" "VUS" ""
"0000065296" "1" "50" "X" "8503715" "8503715" "subst" "0.00223519" "00124" "KAL1_000003" "g.8503715C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.8535674C>A" "" "VUS" ""
"0000065297" "1" "30" "X" "8503641" "8503641" "subst" "0.554308" "00124" "KAL1_000004" "g.8503641G>A" "100/208 cases" "{PMID:Tarpey 2009:19377476}" "" "I611I" "recurrent, found 100 times" "Germline" "" "" "0" "" "" "g.8535600G>A" "" "likely benign" ""
"0000065298" "21" "90" "X" "8699932" "8699932" "subst" "0" "01285" "KAL1_000005" "g.8699932C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8731891C>A" "" "pathogenic" ""
"0000065299" "21" "70" "X" "8556006" "8556006" "subst" "0.000188914" "01286" "KAL1_000006" "g.8556006C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8587965C>G" "" "likely pathogenic" ""
"0000065300" "0" "90" "X" "8553259" "8553337" "delins" "0" "01284" "KAL1_000011" "g.8553259_8553337delinsTAC" "" "" "" "" "1st observation" "Germline" "" "" "0" "" "" "g.8585218_8585296delinsTAC" "" "pathogenic" ""
"0000065301" "21" "75" "X" "8538731" "8538731" "subst" "2.82797E-5" "01286" "KAL1_000007" "g.8538731G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.8570690G>T" "" "likely pathogenic" ""
"0000067234" "21" "30" "X" "8503715" "8503715" "subst" "0.00223519" "01158" "KAL1_000003" "g.8503715C>A" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "Germline" "" "" "0" "" "" "g.8535674C>A" "" "likely benign" ""
"0000132559" "0" "90" "X" "8555912" "8555912" "subst" "0" "00006" "KAL1_000012" "g.8555912A>C" "" "{PMID:Hanchate 2012:22927827}, {DOI:Hanchate 2012:10.1371/journal.pgen.1002896}" "" "Y217D" "" "Germline" "" "" "0" "" "" "g.8587871A>C" "" "pathogenic" ""
"0000170847" "0" "50" "X" "8504928" "8504928" "subst" "0" "02034" "KAL1_000013" "g.8504928A>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.8536887A>T" "" "VUS" ""
"0000259101" "0" "10" "X" "8504833" "8504833" "subst" "0.557709" "02325" "KAL1_000002" "g.8504833C>T" "" "" "" "ANOS1(NM_000216.4):c.1600G>A (p.V534I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8536792C>T" "" "benign" ""
"0000259102" "0" "10" "X" "8503641" "8503641" "subst" "0.554308" "02325" "KAL1_000004" "g.8503641G>A" "" "" "" "ANOS1(NM_000216.4):c.1833C>T (p.I611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8535600G>A" "" "benign" ""
"0000262547" "0" "50" "X" "8536395" "8536395" "subst" "5.60077E-6" "01943" "KAL1_000017" "g.8536395T>A" "" "" "" "ANOS1(NM_000216.3):c.1085A>T (p.E362V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8568354T>A" "" "VUS" ""
"0000262548" "0" "10" "X" "8503715" "8503715" "subst" "0.00223519" "01943" "KAL1_000003" "g.8503715C>A" "" "" "" "ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L, p.(Val587Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8535674C>A" "" "benign" ""
"0000262549" "0" "50" "X" "8555994" "8555994" "subst" "0" "01943" "KAL1_000018" "g.8555994C>A" "" "" "" "ANOS1(NM_000216.3):c.567G>T (p.E189D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8587953C>A" "" "VUS" ""
"0000333077" "0" "50" "X" "8507784" "8507784" "subst" "1.11938E-5" "01804" "KAL1_000015" "g.8507784C>T" "" "" "" "KAL1(NM_000216.2):c.1370G>A (p.(Arg457Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8539743C>T" "" "VUS" ""
"0000338819" "0" "70" "X" "8504810" "8504810" "subst" "0" "02327" "KAL1_000023" "g.8504810A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8536769A>G" "" "likely pathogenic" ""
"0000343194" "0" "90" "X" "8502453" "8502453" "subst" "0" "02327" "KAL1_000020" "g.8502453G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8534412G>A" "" "pathogenic" ""
"0000345288" "0" "90" "X" "8553428" "8553428" "subst" "0" "02327" "KAL1_000030" "g.8553428C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8585387C>A" "" "pathogenic" ""
"0000345353" "0" "90" "X" "8538647" "8538647" "subst" "0" "02327" "KAL1_000027" "g.8538647C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8570606C>A" "" "pathogenic" ""
"0000347453" "0" "50" "X" "8556006" "8556006" "subst" "0.000188914" "02327" "KAL1_000006" "g.8556006C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8587965C>G" "" "VUS" ""
"0000349067" "0" "30" "X" "8504901" "8504901" "subst" "0.00154867" "02327" "KAL1_000001" "g.8504901G>T" "" "" "" "ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8536860G>T" "" "likely benign" ""
"0000349770" "0" "90" "X" "8538658" "8538658" "subst" "0" "02327" "KAL1_000028" "g.8538658C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8570617C>T" "" "pathogenic" ""
"0000350043" "0" "90" "X" "8538618" "8538618" "subst" "0" "02327" "KAL1_000026" "g.8538618G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8570577G>T" "" "pathogenic" ""
"0000350601" "0" "30" "X" "8503715" "8503715" "subst" "0.00223519" "02327" "KAL1_000003" "g.8503715C>A" "" "" "" "ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L, p.(Val587Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8535674C>A" "" "likely benign" ""
"0000351384" "0" "70" "X" "8503631" "8503631" "subst" "0" "02327" "KAL1_000021" "g.8503631C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8535590C>T" "" "likely pathogenic" ""
"0000351385" "0" "10" "X" "8503641" "8503641" "subst" "0.554308" "02327" "KAL1_000004" "g.8503641G>A" "" "" "" "ANOS1(NM_000216.4):c.1833C>T (p.I611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8535600G>A" "" "benign" ""
"0000351391" "0" "50" "X" "8536428" "8536429" "ins" "0" "02327" "KAL1_000025" "g.8536428_8536429insTACCCAAAACTA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.8568387_8568388insTACCCAAAACTA" "" "VUS" ""
"0000475012" "20" "50" "X" "8501064" "8501064" "subst" "0.00027639" "00006" "KAL1_000031" "g.8501064T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.8533023T>C" "" "VUS" ""
"0000475013" "20" "70" "X" "8536395" "8536395" "subst" "5.60077E-6" "00006" "KAL1_000033" "g.8536395T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.8568354T>C" "" "likely pathogenic" ""
"0000475014" "20" "50" "X" "8503796" "8503796" "subst" "0.00083971" "00006" "KAL1_000032" "g.8503796C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.8535755C>T" "" "VUS" ""
"0000577712" "0" "50" "X" "8502423" "8502423" "subst" "3.93002E-5" "01943" "KAL1_000034" "g.8502423C>T" "" "" "" "ANOS1(NM_000216.3):c.1921G>A (p.G641R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8534382C>T" "" "VUS" ""
"0000577713" "0" "10" "X" "8503641" "8503641" "subst" "0.554308" "02330" "KAL1_000004" "g.8503641G>A" "" "" "" "ANOS1(NM_000216.4):c.1833C>T (p.I611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8535600G>A" "" "benign" ""
"0000577714" "0" "10" "X" "8503715" "8503715" "subst" "0.00223519" "02330" "KAL1_000003" "g.8503715C>A" "" "" "" "ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L, p.(Val587Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8535674C>A" "" "benign" ""
"0000577715" "0" "30" "X" "8503715" "8503715" "subst" "0.00223519" "01804" "KAL1_000003" "g.8503715C>A" "" "" "" "ANOS1(NM_000216.3):c.1759G>T (p.V587L), ANOS1(NM_000216.4):c.1759G>T (p.V587L, p.(Val587Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8535674C>A" "" "likely benign" ""
"0000577716" "0" "10" "X" "8504833" "8504833" "subst" "0.557709" "02330" "KAL1_000002" "g.8504833C>T" "" "" "" "ANOS1(NM_000216.4):c.1600G>A (p.V534I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8536792C>T" "" "benign" ""
"0000577717" "0" "10" "X" "8504901" "8504901" "subst" "0.00154867" "02330" "KAL1_000001" "g.8504901G>T" "" "" "" "ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8536860G>T" "" "benign" ""
"0000577718" "0" "30" "X" "8504901" "8504901" "subst" "0.00154867" "01943" "KAL1_000001" "g.8504901G>T" "" "" "" "ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8536860G>T" "" "likely benign" ""
"0000577719" "0" "90" "X" "8507704" "8507704" "subst" "0" "02327" "KAL1_000035" "g.8507704C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8539663C>T" "" "pathogenic" ""
"0000577744" "0" "50" "X" "8538649" "8538649" "subst" "5.6254E-6" "01943" "KAL1_000036" "g.8538649G>C" "" "" "" "ANOS1(NM_000216.3):c.953C>G (p.P318R), ANOS1(NM_000216.4):c.953C>G (p.P318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8570608G>C" "" "VUS" ""
"0000577745" "0" "10" "X" "8538760" "8538760" "subst" "0" "02330" "KAL1_000037" "g.8538760C>T" "" "" "" "ANOS1(NM_000216.4):c.857-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8570719C>T" "" "benign" ""
"0000577747" "0" "90" "X" "8553380" "8553380" "subst" "0" "02327" "KAL1_000038" "g.8553380G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585339G>A" "" "pathogenic" ""
"0000577748" "0" "90" "X" "8553425" "8553425" "subst" "0" "02326" "KAL1_000039" "g.8553425G>A" "" "" "" "ANOS1(NM_000216.4):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8585384G>A" "" "pathogenic" ""
"0000619951" "0" "50" "X" "8536395" "8536395" "subst" "5.60077E-6" "01943" "KAL1_000033" "g.8536395T>C" "" "" "" "ANOS1(NM_000216.3):c.1085A>G (p.E362G), ANOS1(NM_000216.4):c.1085A>G (p.E362G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8568354T>C" "" "VUS" ""
"0000619953" "0" "30" "X" "8699999" "8699999" "subst" "8.68659E-5" "01943" "KAL1_000043" "g.8699999G>C" "" "" "" "ANOS1(NM_000216.3):c.79C>G (p.P27A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8731958G>C" "" "likely benign" ""
"0000624742" "0" "30" "X" "8591703" "8591703" "subst" "0.000524169" "01943" "KAL1_000041" "g.8591703C>T" "" "" "" "ANOS1(NM_000216.3):c.264G>A (p.E88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8623662C>T" "" "likely benign" ""
"0000624743" "0" "10" "X" "8667735" "8667735" "subst" "0.00117139" "02330" "KAL1_000042" "g.8667735G>A" "" "" "" "ANOS1(NM_000216.4):c.255+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8699694G>A" "" "benign" ""
"0000659474" "0" "30" "X" "8503776" "8503776" "subst" "0.000123123" "01943" "KAL1_000044" "g.8503776G>A" "" "" "" "ANOS1(NM_000216.3):c.1698C>T (p.T566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8535735G>A" "" "likely benign" ""
"0000659475" "0" "10" "X" "8538639" "8538639" "subst" "0.000129472" "02330" "KAL1_000045" "g.8538639C>T" "" "" "" "ANOS1(NM_000216.4):c.963G>A (p.P321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.8570598C>T" "" "benign" ""
"0000682682" "0" "30" "X" "8507773" "8507773" "subst" "0.000218236" "01943" "KAL1_000046" "g.8507773G>A" "" "" "" "ANOS1(NM_000216.3):c.1381C>T (p.R461W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682686" "0" "30" "X" "8521996" "8521996" "subst" "0" "01804" "KAL1_000047" "g.8521996C>T" "" "" "" "KAL1(NM_000216.2):c.1351G>A (p.(Glu451Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682687" "0" "50" "X" "8522002" "8522002" "subst" "5.59776E-6" "01943" "KAL1_000048" "g.8522002T>G" "" "" "" "ANOS1(NM_000216.3):c.1345A>C (p.K449Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000682688" "0" "90" "X" "8538600" "8538600" "subst" "0" "02327" "KAL1_000049" "g.8538600C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000693772" "0" "30" "X" "8555989" "8555989" "subst" "0" "01943" "KAL1_000050" "g.8555989C>T" "" "" "" "ANOS1(NM_000216.3):c.572G>A (p.R191Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000699816" "0" "90" "X" "0" "0" "" "0" "00006" "USP9X_000005" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000699851" "0" "90" "X" "8553395" "8553395" "subst" "0" "00006" "KAL1_000051" "g.8553395G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.8585354G>A" "" "pathogenic" ""
"0000729243" "0" "10" "X" "8504901" "8504901" "subst" "0.00154867" "02326" "KAL1_000001" "g.8504901G>T" "" "" "" "ANOS1(NM_000216.3):c.1532C>A (p.S511Y), ANOS1(NM_000216.4):c.1532C>A (p.S511Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000729244" "0" "30" "X" "8507735" "8507735" "subst" "1.67876E-5" "01943" "KAL1_000052" "g.8507735G>A" "" "" "" "ANOS1(NM_000216.3):c.1419C>T (p.T473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000729249" "0" "50" "X" "8536395" "8536395" "subst" "5.60077E-6" "02330" "KAL1_000033" "g.8536395T>C" "" "" "" "ANOS1(NM_000216.3):c.1085A>G (p.E362G), ANOS1(NM_000216.4):c.1085A>G (p.E362G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810707" "0" "30" "X" "8502385" "8502385" "subst" "1.12365E-5" "01943" "KAL1_000053" "g.8502385C>T" "" "" "" "ANOS1(NM_000216.3):c.1959G>A (p.P653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810711" "0" "50" "X" "8555944" "8555944" "subst" "0" "02327" "KAL1_000054" "g.8555944G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000828495" "0" "50" "X" "5748782" "10477366" "del" "0" "00000" "NLGN4X_000080" "g.5748782_10477366del" "" "{PMID:Perea-Romero 2021:34448047}" "" "chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous" "no gene indicated in publication!" "Germline" "yes" "" "0" "" "" "g.5830745_10559329del" "" "VUS" "ACMG"
"0000846446" "0" "70" "X" "8699917" "8699917" "subst" "0" "03779" "KAL1_000055" "g.8699917A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000856826" "0" "90" "X" "8507785" "8507785" "subst" "0" "01943" "KAL1_000056" "g.8507785G>A" "" "" "" "ANOS1(NM_000216.3):c.1369C>T (p.R457*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000856829" "0" "30" "X" "8522081" "8522081" "subst" "4.48831E-5" "01943" "KAL1_000057" "g.8522081T>C" "" "" "" "ANOS1(NM_000216.3):c.1266A>G (p.R422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856830" "0" "30" "X" "8536293" "8536293" "subst" "0.000288162" "01943" "KAL1_000058" "g.8536293G>A" "" "" "" "ANOS1(NM_000216.3):c.1187C>T (p.S396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856831" "0" "30" "X" "8538649" "8538649" "subst" "5.6254E-6" "02326" "KAL1_000036" "g.8538649G>C" "" "" "" "ANOS1(NM_000216.3):c.953C>G (p.P318R), ANOS1(NM_000216.4):c.953C>G (p.P318R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856832" "0" "10" "X" "8565226" "8565226" "subst" "1.68352E-5" "02330" "KAL1_000060" "g.8565226C>T" "" "" "" "ANOS1(NM_000216.4):c.390G>A (p.K130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000867605" "0" "50" "X" "8565170" "8565170" "subst" "0" "02327" "KAL1_000059" "g.8565170T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896386" "0" "10" "X" "8521978" "8521981" "del" "0" "02330" "KAL1_000061" "g.8521978_8521981del" "" "" "" "ANOS1(NM_000216.4):c.1354+19_1354+22delCTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000915771" "0" "90" "X" "8504945" "8504945" "subst" "0" "02327" "KAL1_000062" "g.8504945G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000931472" "0" "50" "X" "8536380" "8536380" "subst" "0" "02327" "KAL1_000063" "g.8536380T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000931586" "0" "70" "X" "8565164" "8565164" "subst" "0" "04531" "KAL1_000064" "g.8565164C>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.8597123C>G" "" "likely pathogenic" ""
"0000984886" "0" "70" "X" "8591710" "8591710" "subst" "0" "02329" "KAL1_000065" "g.8591710C>G" "" "" "" "ANOS1(NM_000216.4):c.257G>C (p.C86S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001007001" "0" "30" "X" "8538671" "8538671" "subst" "2.24993E-5" "01804" "KAL1_000066" "g.8538671C>T" "" "" "" "KAL1(NM_000216.2):c.931G>A (p.(Val311Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001016064" "0" "90" "X" "8700077" "8700077" "subst" "0" "02327" "KAL1_000067" "g.8700077T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001044533" "0" "90" "X" "8503774" "8503774" "subst" "0" "02327" "KAL1_000068" "g.8503774C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001044536" "0" "30" "X" "8538712" "8538712" "subst" "0.000180214" "01804" "KAL1_000069" "g.8538712C>T" "" "" "" "ANOS1(NM_000216.4):c.890G>A (p.(Arg297Gln))" "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 KAL1
## Count = 88
"{{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}}"
"0000006265" "00000856" "30" "4100" "0" "4100" "0" "c.*2057C>T" "r.(=)" "p.(=)" "14"
"0000006266" "00000856" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(=)" "12"
"0000006267" "00000856" "50" "1621" "39" "1621" "39" "c.1621+39C>A" "r.(=)" "p.(=)" ""
"0000006268" "00000856" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Ile)" "11"
"0000008275" "00000856" "30" "4100" "0" "4100" "0" "c.*2057C>T" "r.(=)" "p.(=)" "14"
"0000008276" "00000856" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(=)" "12"
"0000008277" "00000856" "50" "1621" "39" "1621" "39" "c.1621+39C>A" "r.(=)" "p.(=)" ""
"0000008278" "00000856" "30" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Ile)" "11"
"0000014225" "00000856" "30" "-91" "0" "-91" "0" "c.-91T>G" "r.(=)" "p.(=)" "1"
"0000065294" "00000856" "50" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Ser511Tyr)" "11"
"0000065295" "00000856" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Ile)" "11"
"0000065296" "00000856" "50" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Val587Leu)" "12"
"0000065297" "00000856" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(=)" "12"
"0000065298" "00000856" "90" "146" "0" "146" "0" "c.146G>T" "r.(?)" "p.(Cys49Phe)" "1"
"0000065299" "00000856" "70" "555" "0" "555" "0" "c.555G>C" "r.(?)" "p.(Lys185Asn)" "5"
"0000065300" "00000856" "90" "827" "0" "856" "49" "c.827_856+49delinsGTA" "r.spl" "p.?" "6"
"0000065301" "00000856" "75" "871" "0" "871" "0" "c.871C>A" "r.(?)" "p.(Pro291Thr)" "7"
"0000067234" "00000856" "30" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Val587Leu)" "12"
"0000132559" "00000856" "90" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.(Tyr217Asp)" "5"
"0000170847" "00000856" "50" "1505" "0" "1505" "0" "c.1505T>A" "r.(?)" "p.(Val502Asp)" "11"
"0000259101" "00000856" "10" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Ile)" ""
"0000259102" "00000856" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ile611=)" ""
"0000262547" "00000856" "50" "1085" "0" "1085" "0" "c.1085A>T" "r.(?)" "p.(Glu362Val)" ""
"0000262548" "00000856" "10" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Val587Leu)" ""
"0000262549" "00000856" "50" "567" "0" "567" "0" "c.567G>T" "r.(?)" "p.(Glu189Asp)" ""
"0000333077" "00000856" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Arg457Gln)" ""
"0000338819" "00000856" "70" "1621" "2" "1621" "2" "c.1621+2T>C" "r.spl?" "p.?" ""
"0000343194" "00000856" "90" "1891" "0" "1891" "0" "c.1891C>T" "r.(?)" "p.(Arg631Ter)" ""
"0000345288" "00000856" "90" "736" "0" "736" "0" "c.736G>T" "r.(?)" "p.(Glu246Ter)" ""
"0000345353" "00000856" "90" "955" "0" "955" "0" "c.955G>T" "r.(?)" "p.(Glu319Ter)" ""
"0000347453" "00000856" "50" "555" "0" "555" "0" "c.555G>C" "r.(?)" "p.(Lys185Asn)" ""
"0000349067" "00000856" "30" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Ser511Tyr)" ""
"0000349770" "00000856" "90" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Trp315Ter)" ""
"0000350043" "00000856" "90" "984" "0" "984" "0" "c.984C>A" "r.(?)" "p.(Tyr328Ter)" ""
"0000350601" "00000856" "30" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Val587Leu)" ""
"0000351384" "00000856" "70" "1842" "1" "1842" "1" "c.1842+1G>A" "r.spl?" "p.?" ""
"0000351385" "00000856" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ile611=)" ""
"0000351391" "00000856" "50" "1063" "-11" "1063" "-10" "c.1063-11_1063-10insAGTTTTGGGTAT" "r.(=)" "p.(=)" ""
"0000475012" "00000856" "50" "2015" "0" "2015" "0" "c.2015A>G" "r.(?)" "p.(His672Arg)" ""
"0000475013" "00000856" "70" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Glu362Gly)" ""
"0000475014" "00000856" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Val560Ile)" ""
"0000577712" "00000856" "50" "1921" "0" "1921" "0" "c.1921G>A" "r.(?)" "p.(Gly641Arg)" ""
"0000577713" "00000856" "10" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Ile611=)" ""
"0000577714" "00000856" "10" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Val587Leu)" ""
"0000577715" "00000856" "30" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Val587Leu)" ""
"0000577716" "00000856" "10" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Val534Ile)" ""
"0000577717" "00000856" "10" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Ser511Tyr)" ""
"0000577718" "00000856" "30" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Ser511Tyr)" ""
"0000577719" "00000856" "90" "1449" "1" "1449" "1" "c.1449+1G>A" "r.spl?" "p.?" ""
"0000577744" "00000856" "50" "953" "0" "953" "0" "c.953C>G" "r.(?)" "p.(Pro318Arg)" ""
"0000577745" "00000856" "10" "857" "-15" "857" "-15" "c.857-15G>A" "r.(=)" "p.(=)" ""
"0000577747" "00000856" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Ter)" ""
"0000577748" "00000856" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Arg247Ter)" ""
"0000619951" "00000856" "50" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Glu362Gly)" ""
"0000619953" "00000856" "30" "79" "0" "79" "0" "c.79C>G" "r.(?)" "p.(Pro27Ala)" ""
"0000624742" "00000856" "30" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Glu88=)" ""
"0000624743" "00000856" "10" "255" "4" "255" "4" "c.255+4C>T" "r.spl?" "p.?" ""
"0000659474" "00000856" "30" "1698" "0" "1698" "0" "c.1698C>T" "r.(?)" "p.(Thr566=)" ""
"0000659475" "00000856" "10" "963" "0" "963" "0" "c.963G>A" "r.(?)" "p.(Pro321=)" ""
"0000682682" "00000856" "30" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" ""
"0000682686" "00000856" "30" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Glu451Lys)" ""
"0000682687" "00000856" "50" "1345" "0" "1345" "0" "c.1345A>C" "r.(?)" "p.(Lys449Gln)" ""
"0000682688" "00000856" "90" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Trp334Ter)" ""
"0000693772" "00000856" "30" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" ""
"0000699816" "00000856" "90" "" "0" "" "0" "c.(?_‐30)_(255+1_256-1)del" "r.?" "p.0?" ""
"0000699851" "00000856" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" ""
"0000729243" "00000856" "10" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Ser511Tyr)" ""
"0000729244" "00000856" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Thr473=)" ""
"0000729249" "00000856" "50" "1085" "0" "1085" "0" "c.1085A>G" "r.(?)" "p.(Glu362Gly)" ""
"0000810707" "00000856" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Pro653=)" ""
"0000810711" "00000856" "50" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Ser206Leu)" ""
"0000828495" "00000856" "50" "-1777289" "0" "2754297" "0" "c.-1777289_*2752254del" "r.0?" "p.0?" ""
"0000846446" "00000856" "70" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" ""
"0000856826" "00000856" "90" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457*)" ""
"0000856829" "00000856" "30" "1266" "0" "1266" "0" "c.1266A>G" "r.(?)" "p.(Arg422=)" ""
"0000856830" "00000856" "30" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Ser396Leu)" ""
"0000856831" "00000856" "30" "953" "0" "953" "0" "c.953C>G" "r.(?)" "p.(Pro318Arg)" ""
"0000856832" "00000856" "10" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Lys130=)" ""
"0000867605" "00000856" "50" "446" "0" "446" "0" "c.446A>G" "r.(?)" "p.(Glu149Gly)" ""
"0000896386" "00000856" "10" "1354" "19" "1354" "22" "c.1354+19_1354+22del" "r.(=)" "p.(=)" ""
"0000915771" "00000856" "90" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Cys496*)" ""
"0000931472" "00000856" "50" "1100" "0" "1100" "0" "c.1100A>G" "r.(?)" "p.(Asp367Gly)" ""
"0000931586" "00000856" "70" "452" "0" "452" "0" "c.452G>C" "r.(?)" "p.(Cys151Ser)" ""
"0000984886" "00000856" "70" "257" "0" "257" "0" "c.257G>C" "r.(?)" "p.(Cys86Ser)" ""
"0001007001" "00000856" "30" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Val311Ile)" ""
"0001016064" "00000856" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" ""
"0001044533" "00000856" "90" "1700" "0" "1700" "0" "c.1700G>A" "r.(?)" "p.(Gly567Asp)" ""
"0001044536" "00000856" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 27
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000006265"
"0000000209" "0000006266"
"0000000209" "0000006267"
"0000000209" "0000006268"
"0000000210" "0000008275"
"0000000210" "0000008276"
"0000000210" "0000008277"
"0000000210" "0000008278"
"0000000210" "0000014225"
"0000037984" "0000065294"
"0000037985" "0000065295"
"0000037986" "0000065296"
"0000037987" "0000065297"
"0000037988" "0000065298"
"0000037989" "0000065299"
"0000037990" "0000065300"
"0000037991" "0000065301"
"0000039631" "0000067234"
"0000081863" "0000132559"
"0000105427" "0000170847"
"0000232555" "0000475012"
"0000232571" "0000475013"
"0000232600" "0000475014"
"0000317292" "0000699816"
"0000317327" "0000699851"
"0000396813" "0000828495"
"0000436906" "0000931586"