### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIF4A)
# 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}}"
"KIF4A" "kinesin family member 4A" "X" "q13.1" "unknown" "NG_016799.1" "UD_132084425326" "" "https://www.LOVD.nl/KIF4A" "" "1" "13339" "24137" "300521" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIF4A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-05-11 16:55:52" "00000" "2026-02-18 09:57:03"
## 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}}"
"00000370" "KIF4A" "kinesin family member 4A" "001" "NM_012310.4" "" "NP_036442.3" "" "" "" "-143" "4358" "3699" "69509879" "69640774" "00000" "2012-09-13 12:10:14" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{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"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00307" "HYDRO" "hydrocephaly (HYDRO)" "" "" "" "" "" "00006" "2014-01-19 12:32:13" "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"
"02208" "MRX100" "mental retardation, X-linked, type 100 (MRX100)" "XLR" "300923" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-11 15:17:27"
"04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"KIF4A" "02208"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{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" "" "" "" ""
"00058821" "" "" "" "10" "" "01528" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "6-generation family with mutliple affected" "M" "no" "Australia" "" "0" "" "" "" ""
"00173293" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173294" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173295" "" "" "" "4" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173296" "" "" "" "5" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173450" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173503" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173564" "" "" "" "8" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00181103" "" "" "" "1" "" "02575" "" "" "" "" "" "" "0" "" "" "" ""
"00295087" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00387698" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 or more affected individuals" "" "" "" "" "0" "" "" "" "G036"
"00438352" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat70"
"00472450" "" "" "" "1" "" "01164" "" "" "M" "yes" "Syria" "" "0" "" "" "" "362577"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00058821" "00187"
"00173293" "00187"
"00173294" "00187"
"00173295" "00187"
"00173296" "00187"
"00173450" "00187"
"00173503" "00187"
"00173564" "00187"
"00181103" "00307"
"00295087" "00198"
"00387698" "00139"
"00438352" "04270"
"00472450" "02208"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00307, 01157, 02208, 04270
## Count = 14
"{{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" "" "" "" "" "" "" "" "" ""
"0000046730" "00187" "00058821" "01528" "Familial, X-linked" "" "The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted" "" "" "" "" "" "" "" "" "" "" "" ""
"0000138157" "00187" "00173293" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138158" "00187" "00173294" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138159" "00187" "00173295" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138160" "00187" "00173296" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138314" "00187" "00173450" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138367" "00187" "00173503" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138428" "00187" "00173564" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000143365" "00307" "00181103" "02575" "Familial, X-linked recessive" "" "Hydrocephalus (HP:0000238)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000281266" "00139" "00387698" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000328256" "04270" "00438352" "00006" "Familial, X-linked recessive" "" "HP:0001250 seizures; HP:0012469 infantile spasms" "30d" "" "" "" "" "" "" "" "" "" "epilepsy" ""
"0000357260" "02208" "00472450" "01164" "Unknown" "06y" "Delayed speech and language development, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{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" "" ""
"0000058785" "00058821" "1" "01528" "01528" "2016-02-04 07:45:07" "" "" "SEQ-NG" "DNA" "ThuongHa" ""
"0000174176" "00173293" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174177" "00173294" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174178" "00173295" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174179" "00173296" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174333" "00173450" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000174386" "00173503" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000174447" "00173564" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000182060" "00181103" "1" "02575" "02575" "2018-09-28 09:49:27" "" "" "SEQ-NG" "DNA" "" ""
"0000296255" "00295087" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000388929" "00387698" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000439834" "00438352" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000474118" "00472450" "1" "01164" "01164" "2026-02-17 10:52:49" "" "" "SEQ-NG-I" "DNA" "Blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{geneid}}"
"0000174176" "KLHL4"
"0000174177" "LONRF3"
"0000174178" "LONRF3"
"0000174179" "LONRF3"
"0000174333" "NLGN4X"
"0000174386" "STARD8"
"0000174447" "CT45A5"
"0000182060" "KIF4A"
"0000388929" "KIF4A"
"0000474118" "KIF4A"
## 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 = 89
"{{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}}"
"0000001994" "0" "30" "X" "69624388" "69624388" "dup" "0" "00037" "KIF4A_000017" "g.69624388dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70404538dup" "" "likely benign" ""
"0000003030" "0" "30" "X" "69606982" "69606982" "del" "0" "00037" "KIF4A_000020" "g.69606982del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70387132del" "" "likely benign" ""
"0000007073" "20" "30" "X" "69510335" "69510335" "subst" "0" "00037" "KIF4A_000012" "g.69510335T>C" "" "" "" "27C>T" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.70290485T>C" "" "likely benign" ""
"0000007074" "20" "30" "X" "69510961" "69510961" "subst" "0" "00037" "KIF4A_000013" "g.69510961C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70291111C>T" "" "likely benign" ""
"0000007075" "20" "30" "X" "69572242" "69572242" "subst" "0" "00037" "KIF4A_000014" "g.69572242G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70352392G>A" "" "likely benign" ""
"0000007076" "20" "30" "X" "69572732" "69572732" "subst" "0" "00037" "KIF4A_000015" "g.69572732G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70352882G>A" "" "likely benign" ""
"0000007077" "20" "30" "X" "69593870" "69593870" "subst" "0" "00037" "KIF4A_000016" "g.69593870G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70374020G>A" "" "likely benign" ""
"0000007078" "20" "30" "X" "69595909" "69595909" "subst" "0.941303" "00037" "KIF4A_000019" "g.69595909C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70376059C>G" "" "likely benign" ""
"0000007079" "20" "30" "X" "69625447" "69625447" "subst" "0" "00037" "KIF4A_000018" "g.69625447C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70405597C>T" "" "likely benign" ""
"0000007080" "20" "30" "X" "69639698" "69639698" "subst" "0" "00037" "KIF4A_000022" "g.69639698G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70419848G>T" "" "likely benign" ""
"0000009162" "20" "30" "X" "69510335" "69510335" "subst" "0" "00037" "KIF4A_000012" "g.69510335T>C" "" "" "" "27C>T" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.70290485T>C" "" "likely benign" ""
"0000009163" "20" "30" "X" "69572242" "69572242" "subst" "0" "00037" "KIF4A_000014" "g.69572242G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70352392G>A" "" "likely benign" ""
"0000009164" "20" "30" "X" "69572732" "69572732" "subst" "0" "00037" "KIF4A_000015" "g.69572732G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70352882G>A" "" "likely benign" ""
"0000009165" "20" "30" "X" "69595909" "69595909" "subst" "0.941303" "00037" "KIF4A_000019" "g.69595909C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70376059C>G" "" "likely benign" ""
"0000009166" "20" "30" "X" "69625447" "69625447" "subst" "0" "00037" "KIF4A_000018" "g.69625447C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70405597C>T" "" "likely benign" ""
"0000009167" "0" "30" "X" "69626374" "69626374" "subst" "0" "00037" "KIF4A_000021" "g.69626374C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70406524C>A" "" "likely benign" ""
"0000009168" "20" "30" "X" "69639698" "69639698" "subst" "0" "00037" "KIF4A_000022" "g.69639698G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70419848G>T" "" "likely benign" ""
"0000015046" "20" "30" "X" "69510961" "69510961" "subst" "0" "00037" "KIF4A_000013" "g.69510961C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70291111C>T" "" "likely benign" ""
"0000089442" "21" "30" "X" "69584444" "69584444" "subst" "0" "01528" "KIF4A_000011" "g.69584444A>G" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "" "" "Germline" "" "" "0" "" "" "g.70364594A>G" "" "likely benign" ""
"0000089443" "21" "30" "X" "69591097" "69591098" "dup" "0" "01528" "KIF4A_000010" "g.69591097_69591098dup" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "69591085_69591086insTT" "" "Germline" "" "" "0" "" "" "g.70371247_70371248dup" "" "likely benign" ""
"0000089444" "21" "30" "X" "69613719" "69613720" "del" "0" "01528" "KIF4A_000023" "g.69613719_69613720del" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "2233-1803_2233-1801delTC" "" "Germline" "" "" "0" "" "" "g.70393869_70393870del" "" "likely benign" ""
"0000254449" "0" "30" "X" "69640000" "69640000" "subst" "5.5986E-6" "01943" "KIF4A_000035" "g.69640000A>G" "" "" "" "KIF4A(NM_012310.4):c.3584A>G (p.H1195R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70420150A>G" "" "likely benign" ""
"0000256127" "0" "50" "X" "69640048" "69640048" "subst" "1.68541E-5" "01943" "KIF4A_000037" "g.69640048A>G" "" "" "" "KIF4A(NM_012310.4):c.3632A>G (p.K1211R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70420198A>G" "" "VUS" ""
"0000281799" "0" "10" "X" "69510335" "69510335" "subst" "0.992347" "02325" "KIF4A_000024" "g.69510335C>T" "" "" "" "KIF4A(NM_012310.5):c.27C>T (p.P9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70290485C>T" "" "benign" ""
"0000285817" "0" "30" "X" "69622435" "69622435" "subst" "0" "02326" "KIF4A_000032" "g.69622435C>G" "" "" "" "KIF4A(NM_012310.4):c.2509C>G (p.L837V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70402585C>G" "" "likely benign" ""
"0000290323" "0" "10" "X" "69563562" "69563562" "subst" "0.00161935" "01943" "KIF4A_000026" "g.69563562G>T" "" "" "" "KIF4A(NM_012310.4):c.1276G>T (p.A426S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70343712G>T" "" "benign" ""
"0000334529" "0" "50" "X" "69563832" "69563832" "subst" "0" "01804" "KIF4A_000027" "g.69563832G>A" "" "" "" "KIF4A(NM_012310.4):c.1431G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70343982G>A" "" "VUS" ""
"0000334531" "0" "50" "X" "69606531" "69606531" "subst" "1.11992E-5" "01804" "KIF4A_000029" "g.69606531C>G" "" "" "" "KIF4A(NM_012310.4):c.2098C>G (p.(Leu700Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70386681C>G" "" "VUS" ""
"0000334532" "0" "50" "X" "69615684" "69615684" "subst" "6.77082E-5" "01804" "KIF4A_000030" "g.69615684C>T" "" "" "" "KIF4A(NM_012310.4):c.2388+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70395834C>T" "" "VUS" ""
"0000334533" "0" "50" "X" "69615838" "69615838" "subst" "0" "01804" "KIF4A_000031" "g.69615838T>A" "" "" "" "KIF4A(NM_012310.4):c.2428T>A (p.(Ser810Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70395988T>A" "" "VUS" ""
"0000334534" "0" "50" "X" "69623855" "69623855" "subst" "0.000285596" "01804" "KIF4A_000033" "g.69623855G>C" "" "" "" "KIF4A(NM_012310.4):c.2761G>C (p.(Val921Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70404005G>C" "" "VUS" ""
"0000334536" "0" "50" "X" "69640029" "69640029" "subst" "0" "01804" "KIF4A_000036" "g.69640029G>C" "" "" "" "KIF4A(NM_012310.4):c.3613G>C (p.(Ala1205Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70420179G>C" "" "VUS" ""
"0000343375" "0" "50" "X" "69615675" "69615675" "subst" "0" "02327" "KIF4A_000039" "g.69615675G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70395825G>A" "" "VUS" ""
"0000347479" "0" "30" "X" "69521903" "69521903" "subst" "2.83227E-5" "02327" "KIF4A_000038" "g.69521903A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70302053A>C" "" "likely benign" ""
"0000401124" "1" "30" "X" "69573639" "69573639" "subst" "0.0605878" "00124" "KIF4A_000046" "g.69573639C>T" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P552P" "recurrent, found 7 times" "Germline" "" "" "0" "" "" "g.70353789C>T" "" "likely benign" ""
"0000401125" "1" "30" "X" "69516885" "69516885" "subst" "0.000213117" "00124" "KIF4A_000041" "g.69516885C>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G91G" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.70297035C>T" "" "likely benign" ""
"0000401126" "1" "30" "X" "69550080" "69550080" "subst" "0.0367076" "00124" "KIF4A_000042" "g.69550080A>G" "4/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T323T" "recurrent, found 4 times" "Germline" "" "" "0" "" "" "g.70330230A>G" "" "likely benign" ""
"0000401127" "1" "30" "X" "69550098" "69550098" "subst" "0.0777704" "00124" "KIF4A_000043" "g.69550098T>C" "5/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y329Y" "recurrent, found 5 times" "Germline" "" "" "0" "" "" "g.70330248T>C" "" "likely benign" ""
"0000401128" "1" "50" "X" "69563608" "69563608" "subst" "5.61331E-6" "00124" "KIF4A_000045" "g.69563608C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A441V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.70343758C>T" "" "VUS" ""
"0000401129" "1" "50" "X" "69606512" "69606512" "subst" "0" "00124" "KIF4A_000047" "g.69606512C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "F693L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.70386662C>A" "" "VUS" ""
"0000401130" "1" "50" "X" "69561780" "69561780" "subst" "0.0603938" "00124" "KIF4A_000044" "g.69561780T>G" "8/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L422W" "recurrent, found 8 times" "Germline" "" "" "0" "" "" "g.70341930T>G" "" "VUS" ""
"0000405924" "21" "50" "X" "69606529" "69606529" "subst" "0" "02575" "KIF4A_000040" "g.69606529T>A" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.70386679T>A" "" "VUS" ""
"0000577137" "0" "30" "X" "69507119" "69507119" "subst" "0.00172627" "01804" "RAB41_000018" "g.69507119C>T" "" "" "" "PDZD11(NM_016484.4):c.388+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70287269C>T" "" "likely benign" ""
"0000577138" "0" "50" "X" "69508362" "69508362" "subst" "0" "01943" "RAB41_000019" "g.69508362C>T" "" "" "" "PDZD11(NM_016484.4):c.89G>A (p.R30K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70288512C>T" "" "VUS" ""
"0000577139" "0" "30" "X" "69510283" "69510283" "subst" "0.000138344" "01804" "PDZD11_000005" "g.69510283C>T" "" "" "" "KIF4A(NM_012310.4):c.-21-5C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70290433C>T" "" "likely benign" ""
"0000577141" "0" "30" "X" "69561639" "69561639" "subst" "0" "01943" "KIF4A_000049" "g.69561639T>C" "" "" "" "KIF4A(NM_012310.4):c.1134-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70341789T>C" "" "likely benign" ""
"0000577142" "0" "30" "X" "69572490" "69572490" "subst" "0.0083763" "01804" "KIF4A_000050" "g.69572490C>T" "" "" "" "KIF4A(NM_012310.4):c.1472C>T (p.(Ala491Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70352640C>T" "" "likely benign" ""
"0000577144" "0" "30" "X" "69623753" "69623753" "subst" "0" "01943" "KIF4A_000052" "g.69623753A>G" "" "" "" "KIF4A(NM_012310.4):c.2659A>G (p.S887G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70403903A>G" "" "likely benign" ""
"0000577145" "0" "50" "X" "69626146" "69626146" "subst" "0.000492796" "02329" "KIF4A_000053" "g.69626146A>G" "" "" "" "KIF4A(NM_012310.5):c.3014A>G (p.H1005R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70406296A>G" "" "VUS" ""
"0000577146" "0" "30" "X" "69626887" "69626887" "subst" "0.000148486" "01943" "KIF4A_000054" "g.69626887A>T" "" "" "" "KIF4A(NM_012310.4):c.3217A>T (p.T1073S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70407037A>T" "" "likely benign" ""
"0000577147" "0" "30" "X" "69637732" "69637732" "subst" "0.000164383" "01804" "KIF4A_000055" "g.69637732T>C" "" "" "" "KIF4A(NM_012310.4):c.3256-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70417882T>C" "" "likely benign" ""
"0000577148" "0" "30" "X" "69639963" "69639963" "subst" "7.27928E-5" "01943" "KIF4A_000034" "g.69639963C>T" "" "" "" "KIF4A(NM_012310.4):c.3547C>T (p.P1183S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70420113C>T" "" "likely benign" ""
"0000577149" "0" "30" "X" "69645621" "69645621" "subst" "0" "01943" "KIF4A_000056" "g.69645621T>G" "" "" "" "GDPD2(NM_001171192.1):c.218T>G (p.F73C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70425771T>G" "" "likely benign" ""
"0000619806" "0" "30" "X" "69510283" "69510283" "subst" "0.000138344" "01943" "PDZD11_000005" "g.69510283C>T" "" "" "" "KIF4A(NM_012310.4):c.-21-5C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70290433C>T" "" "likely benign" ""
"0000619807" "0" "30" "X" "69516914" "69516914" "subst" "1.67863E-5" "01943" "KIF4A_000057" "g.69516914C>T" "" "" "" "KIF4A(NM_012310.4):c.302C>T (p.A101V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70297064C>T" "" "likely benign" ""
"0000619808" "0" "30" "X" "69521860" "69521860" "subst" "0" "01943" "KIF4A_000058" "g.69521860G>A" "" "" "" "KIF4A(NM_012310.4):c.627G>A (p.S209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70302010G>A" "" "likely benign" ""
"0000619809" "0" "50" "X" "69522158" "69522158" "subst" "0" "02327" "KIF4A_000059" "g.69522158A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70302308A>G" "" "VUS" ""
"0000619810" "0" "30" "X" "69595185" "69595185" "subst" "0" "01943" "KIF4A_000051" "g.69595185A>C" "" "" "" "KIF4A(NM_012310.4):c.1910A>C (p.N637T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70375335A>C" "" "likely benign" ""
"0000619811" "0" "30" "X" "69606558" "69606558" "subst" "0.00195154" "01943" "KIF4A_000060" "g.69606558A>G" "" "" "" "KIF4A(NM_012310.4):c.2118+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70386708A>G" "" "likely benign" ""
"0000624697" "0" "50" "X" "69615597" "69615597" "subst" "5.59603E-6" "02329" "KIF4A_000062" "g.69615597A>T" "" "" "" "KIF4A(NM_012310.5):c.2309A>T (p.D770V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70395747A>T" "" "VUS" ""
"0000624698" "0" "30" "X" "69639610" "69639610" "subst" "1.11891E-5" "01943" "KIF4A_000063" "g.69639610G>A" "" "" "" "KIF4A(NM_012310.4):c.3472G>A (p.V1158I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70419760G>A" "" "likely benign" ""
"0000652944" "1" "50" "X" "69607098" "69607098" "subst" "0" "03575" "KIF4A_000064" "g.69607098G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199529123}" "Germline" "" "rs199529123" "0" "" "" "g.70387248G>A" "" "VUS" ""
"0000659426" "0" "30" "X" "69553529" "69553529" "subst" "0" "01943" "KIF4A_000065" "g.69553529G>A" "" "" "" "KIF4A(NM_012310.4):c.1123G>A (p.G375R, p.(Gly375Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70333679G>A" "" "likely benign" ""
"0000682592" "0" "30" "X" "69615673" "69615673" "subst" "0.000123488" "01943" "KIF4A_000066" "g.69615673C>T" "" "" "" "KIF4A(NM_012310.4):c.2385C>T (p.L795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693703" "0" "30" "X" "69516998" "69516998" "subst" "6.76807E-5" "01943" "KIF4A_000067" "g.69516998A>G" "" "" "" "KIF4A(NM_012310.4):c.386A>G (p.K129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000699715" "0" "50" "X" "69595198" "69595198" "subst" "0" "03779" "KIF4A_000068" "g.69595198G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" ""
"0000729132" "0" "50" "X" "69606526" "69606526" "subst" "1.1197E-5" "01943" "KIF4A_000069" "g.69606526A>G" "" "" "" "KIF4A(NM_012310.4):c.2093A>G (p.N698S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729133" "0" "50" "X" "69615536" "69615536" "subst" "0" "02329" "KIF4A_000061" "g.69615536G>A" "" "" "" "KIF4A(NM_012310.5):c.2248G>A (p.E750K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729134" "0" "30" "X" "69615827" "69615827" "subst" "0" "01943" "KIF4A_000070" "g.69615827G>A" "" "" "" "KIF4A(NM_012310.4):c.2417G>A (p.R806H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810607" "0" "50" "X" "69510287" "69510287" "subst" "1.78569E-5" "01943" "PDZD11_000006" "g.69510287G>C" "" "" "" "KIF4A(NM_012310.4):c.-21-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810608" "0" "50" "X" "69573474" "69573474" "subst" "0" "01804" "KIF4A_000071" "g.69573474A>G" "" "" "" "KIF4A(NM_012310.4):c.1491A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810609" "0" "50" "X" "69623811" "69623811" "subst" "5.60425E-6" "01943" "KIF4A_000072" "g.69623811G>A" "" "" "" "KIF4A(NM_012310.4):c.2717G>A (p.R906Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000810610" "0" "30" "X" "69637732" "69637732" "subst" "0.000164383" "01943" "KIF4A_000055" "g.69637732T>C" "" "" "" "KIF4A(NM_012310.4):c.3256-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000817722" "3" "70" "X" "69607097" "69607097" "subst" "0" "00006" "KIF4A_000073" "g.69607097C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.70387247C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000856742" "0" "50" "X" "69595077" "69595077" "subst" "3.3607E-5" "01943" "KIF4A_000028" "g.69595077G>A" "" "" "" "KIF4A(NM_012310.4):c.1802G>A (p.R601H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000856743" "0" "30" "X" "69639576" "69639576" "subst" "0.000525771" "01943" "KIF4A_000075" "g.69639576C>T" "" "" "" "KIF4A(NM_012310.4):c.3438C>T (p.T1146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867518" "0" "50" "X" "69607097" "69607097" "subst" "0" "01943" "KIF4A_000073" "g.69607097C>T" "" "" "" "KIF4A(NM_012310.4):c.2182C>T (p.R728W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867519" "0" "30" "X" "69622552" "69622552" "dup" "0" "01943" "KIF4A_000074" "g.69622552dup" "" "" "" "KIF4A(NM_012310.4):c.2619+7dupA, KIF4A(NM_012310.5):c.2619+7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000896333" "0" "50" "X" "69595981" "69595981" "subst" "7.31665E-5" "02325" "KIF4A_000076" "g.69595981G>A" "" "" "" "KIF4A(NM_012310.5):c.1955G>A (p.R652H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896334" "0" "50" "X" "69626885" "69626885" "subst" "0" "02329" "KIF4A_000077" "g.69626885C>G" "" "" "" "KIF4A(NM_012310.5):c.3215C>G (p.P1072R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896335" "0" "50" "X" "69637759" "69637759" "subst" "0" "02325" "KIF4A_000078" "g.69637759G>A" "" "" "" "KIF4A(NM_012310.5):c.3277G>A (p.G1093R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000935963" "0" "50" "X" "69607150" "69607150" "subst" "0" "00006" "KIF4A_000079" "g.69607150A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PM2,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.70387300A>G" "" "VUS" "ACMG"
"0000984820" "0" "30" "X" "69606544" "69606544" "subst" "5.61038E-6" "01804" "KIF4A_000081" "g.69606544C>T" "" "" "" "KIF4A(NM_012310.5):c.2111C>T (p.(Thr704Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984821" "0" "30" "X" "69622552" "69622552" "dup" "0" "01804" "KIF4A_000074" "g.69622552dup" "" "" "" "KIF4A(NM_012310.4):c.2619+7dupA, KIF4A(NM_012310.5):c.2619+7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006925" "0" "50" "X" "69553529" "69553529" "subst" "0" "01804" "KIF4A_000065" "g.69553529G>A" "" "" "" "KIF4A(NM_012310.4):c.1123G>A (p.G375R, p.(Gly375Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067720" "0" "50" "X" "69522251" "69522251" "subst" "0" "01804" "KIF4A_000082" "g.69522251A>G" "" "" "" "KIF4A(NM_012310.5):c.778+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067721" "0" "50" "X" "69615545" "69615545" "subst" "0" "02325" "KIF4A_000083" "g.69615545G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001068301" "21" "50" "X" "69623808" "69623808" "subst" "0" "01164" "KIF4A_000084" "g.69623808A>T" "" "" "" "" "ACMG/AMP: PM2_supporting, PP3: SpliceAI predicts de novo SD creation" "Germline" "?" "" "" "" "" "g.70403958A>T" "" "VUS" "ACMG"
"0001068367" "0" "30" "X" "69626812" "69626812" "subst" "5.60152E-6" "03779" "KIF4A_000085" "g.69626812T>C" "" "" "" "" "" "Unknown" "" "rs971837109" "0" "" "" "" "" "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 KIF4A
## Count = 89
"{{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}}"
"0000001994" "00000370" "30" "2791" "-177" "2791" "-177" "c.2791-177dup" "r.(?)" "p.(=)" "24i"
"0000003030" "00000370" "30" "2119" "-52" "2119" "-52" "c.2119-52del" "r.(?)" "p.(=)" "19i"
"0000007073" "00000370" "30" "27" "0" "27" "0" "c.27T>C" "r.(=)" "p.(Pro9=)" "2"
"0000007074" "00000370" "30" "235" "306" "235" "306" "c.235+306C>T" "r.(?)" "p.(=)" "3i"
"0000007075" "00000370" "30" "1432" "-208" "1432" "-208" "c.1432-208G>A" "r.(?)" "p.(=)" "13i"
"0000007076" "00000370" "30" "1488" "226" "1488" "226" "c.1488+226G>A" "r.(?)" "p.(=)" "14i"
"0000007077" "00000370" "30" "1675" "-131" "1675" "-131" "c.1675-131G>A" "r.(?)" "p.(=)" "15i"
"0000007078" "00000370" "30" "1924" "-41" "1924" "-41" "c.1924-41C>G" "r.(?)" "p.(=)" "17i"
"0000007079" "00000370" "30" "2899" "-231" "2899" "-231" "c.2899-231C>T" "r.(?)" "p.(=)" "25i"
"0000007080" "00000370" "30" "3495" "65" "3495" "65" "c.3495+65G>T" "r.(?)" "p.(=)" "30i"
"0000009162" "00000370" "30" "27" "0" "27" "0" "c.27T>C" "r.(?)" "p.(Pro9=)" "2"
"0000009163" "00000370" "30" "1432" "-208" "1432" "-208" "c.1432-208G>A" "r.(?)" "p.(=)" "13i"
"0000009164" "00000370" "30" "1488" "226" "1488" "226" "c.1488+226G>A" "r.(?)" "p.(=)" "14i"
"0000009165" "00000370" "30" "1924" "-41" "1924" "-41" "c.1924-41C>G" "r.(?)" "p.(=)" "17i"
"0000009166" "00000370" "30" "2899" "-231" "2899" "-231" "c.2899-231C>T" "r.(?)" "p.(=)" "25i"
"0000009167" "00000370" "30" "3072" "170" "3072" "170" "c.3072+170C>A" "r.(?)" "p.(=)" "27i"
"0000009168" "00000370" "30" "3495" "65" "3495" "65" "c.3495+65G>T" "r.(?)" "p.(=)" "30i"
"0000015046" "00000370" "30" "235" "306" "235" "306" "c.235+306C>T" "r.(?)" "p.(=)" "3i"
"0000089442" "00000370" "30" "1675" "-9557" "1675" "-9557" "c.1675-9557A>G" "r.(?)" "p.(=)" "15i"
"0000089443" "00000370" "30" "1675" "-2904" "1675" "-2903" "c.1675-2904_1675-2903dup" "r.(?)" "p.(=)" "15i"
"0000089444" "00000370" "30" "2233" "-1802" "2233" "-1801" "c.2233-1802_2233-1801del" "r.(?)" "p.(=)" "20i"
"0000254449" "00000370" "30" "3584" "0" "3584" "0" "c.3584A>G" "r.(?)" "p.(His1195Arg)" ""
"0000256127" "00000370" "50" "3632" "0" "3632" "0" "c.3632A>G" "r.(?)" "p.(Lys1211Arg)" ""
"0000281799" "00000370" "10" "27" "0" "27" "0" "c.27=" "r.(=)" "p.(Pro9=)" ""
"0000285817" "00000370" "30" "2509" "0" "2509" "0" "c.2509C>G" "r.(?)" "p.(Leu837Val)" ""
"0000290323" "00000370" "10" "1276" "0" "1276" "0" "c.1276G>T" "r.(?)" "p.(Ala426Ser)" ""
"0000334529" "00000370" "50" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Ser477=)" ""
"0000334531" "00000370" "50" "2098" "0" "2098" "0" "c.2098C>G" "r.(?)" "p.(Leu700Val)" ""
"0000334532" "00000370" "50" "2388" "8" "2388" "8" "c.2388+8C>T" "r.(=)" "p.(=)" ""
"0000334533" "00000370" "50" "2428" "0" "2428" "0" "c.2428T>A" "r.(?)" "p.(Ser810Thr)" ""
"0000334534" "00000370" "50" "2761" "0" "2761" "0" "c.2761G>C" "r.(?)" "p.(Val921Leu)" ""
"0000334536" "00000370" "50" "3613" "0" "3613" "0" "c.3613G>C" "r.(?)" "p.(Ala1205Pro)" ""
"0000343375" "00000370" "50" "2387" "0" "2387" "0" "c.2387G>A" "r.(?)" "p.(Arg796Gln)" ""
"0000347479" "00000370" "30" "670" "0" "670" "0" "c.670A>C" "r.(?)" "p.(Lys224Gln)" ""
"0000401124" "00000370" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "P552P" "15"
"0000401125" "00000370" "30" "273" "0" "273" "0" "c.273C>T" "r.(?)" "p.(=)" "4"
"0000401126" "00000370" "30" "969" "0" "969" "0" "c.969A>G" "r.(?)" "p.(=)" "9"
"0000401127" "00000370" "30" "987" "0" "987" "0" "c.987T>C" "r.(?)" "p.(=)" "9"
"0000401128" "00000370" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Ala441Val)" "12"
"0000401129" "00000370" "50" "2079" "0" "2079" "0" "c.2079C>A" "r.(?)" "p.(Phe693Leu)" "19"
"0000401130" "00000370" "50" "1265" "0" "1265" "0" "c.1265T>G" "r.(?)" "p.(Leu422Trp)" "11"
"0000405924" "00000370" "50" "2096" "0" "2096" "0" "c.2096T>A" "r.(?)" "p.(Val699Glu)" ""
"0000577137" "00000370" "30" "-2903" "0" "-2903" "0" "c.-2903C>T" "r.(?)" "p.(=)" ""
"0000577138" "00000370" "50" "-1660" "0" "-1660" "0" "c.-1660C>T" "r.(?)" "p.(=)" ""
"0000577139" "00000370" "30" "-21" "-5" "-21" "-5" "c.-21-5C>T" "r.spl?" "p.?" ""
"0000577141" "00000370" "30" "1134" "-10" "1134" "-10" "c.1134-10T>C" "r.(=)" "p.(=)" ""
"0000577142" "00000370" "30" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Ala491Val)" ""
"0000577144" "00000370" "30" "2659" "0" "2659" "0" "c.2659A>G" "r.(?)" "p.(Ser887Gly)" ""
"0000577145" "00000370" "50" "3014" "0" "3014" "0" "c.3014A>G" "r.(?)" "p.(His1005Arg)" ""
"0000577146" "00000370" "30" "3217" "0" "3217" "0" "c.3217A>T" "r.(?)" "p.(Thr1073Ser)" ""
"0000577147" "00000370" "30" "3256" "-6" "3256" "-6" "c.3256-6T>C" "r.(=)" "p.(=)" ""
"0000577148" "00000370" "30" "3547" "0" "3547" "0" "c.3547C>T" "r.(?)" "p.(Pro1183Ser)" ""
"0000577149" "00000370" "30" "9205" "0" "9205" "0" "c.*5506T>G" "r.(=)" "p.(=)" ""
"0000619806" "00000370" "30" "-21" "-5" "-21" "-5" "c.-21-5C>T" "r.spl?" "p.?" ""
"0000619807" "00000370" "30" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ala101Val)" ""
"0000619808" "00000370" "30" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Ser209=)" ""
"0000619809" "00000370" "50" "688" "0" "688" "0" "c.688A>G" "r.(?)" "p.(Ser230Gly)" ""
"0000619810" "00000370" "30" "1910" "0" "1910" "0" "c.1910A>C" "r.(?)" "p.(Asn637Thr)" ""
"0000619811" "00000370" "30" "2118" "7" "2118" "7" "c.2118+7A>G" "r.(=)" "p.(=)" ""
"0000624697" "00000370" "50" "2309" "0" "2309" "0" "c.2309A>T" "r.(?)" "p.(Asp770Val)" ""
"0000624698" "00000370" "30" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Val1158Ile)" ""
"0000652944" "00000370" "50" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Arg728Gln)" ""
"0000659426" "00000370" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Arg)" ""
"0000682592" "00000370" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Leu795=)" ""
"0000693703" "00000370" "30" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Lys129Arg)" ""
"0000699715" "00000370" "50" "1923" "0" "1923" "0" "c.1923G>A" "r.(?)" "p.(Arg641=)" ""
"0000729132" "00000370" "50" "2093" "0" "2093" "0" "c.2093A>G" "r.(?)" "p.(Asn698Ser)" ""
"0000729133" "00000370" "50" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Glu750Lys)" ""
"0000729134" "00000370" "30" "2417" "0" "2417" "0" "c.2417G>A" "r.(?)" "p.(Arg806His)" ""
"0000810607" "00000370" "50" "-21" "-1" "-21" "-1" "c.-21-1G>C" "r.spl?" "p.?" ""
"0000810608" "00000370" "50" "1491" "0" "1491" "0" "c.1491A>G" "r.(?)" "p.(Gln497=)" ""
"0000810609" "00000370" "50" "2717" "0" "2717" "0" "c.2717G>A" "r.(?)" "p.(Arg906Gln)" ""
"0000810610" "00000370" "30" "3256" "-6" "3256" "-6" "c.3256-6T>C" "r.(=)" "p.(=)" ""
"0000817722" "00000370" "70" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Trp)" ""
"0000856742" "00000370" "50" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601His)" ""
"0000856743" "00000370" "30" "3438" "0" "3438" "0" "c.3438C>T" "r.(?)" "p.(Thr1146=)" ""
"0000867518" "00000370" "50" "2182" "0" "2182" "0" "c.2182C>T" "r.(?)" "p.(Arg728Trp)" ""
"0000867519" "00000370" "30" "2619" "7" "2619" "7" "c.2619+7dup" "r.(=)" "p.(=)" ""
"0000896333" "00000370" "50" "1955" "0" "1955" "0" "c.1955G>A" "r.(?)" "p.(Arg652His)" ""
"0000896334" "00000370" "50" "3215" "0" "3215" "0" "c.3215C>G" "r.(?)" "p.(Pro1072Arg)" ""
"0000896335" "00000370" "50" "3277" "0" "3277" "0" "c.3277G>A" "r.(?)" "p.(Gly1093Arg)" ""
"0000935963" "00000370" "50" "2232" "3" "2232" "3" "c.2232+3A>G" "r.spl?" "p.?" ""
"0000984820" "00000370" "30" "2111" "0" "2111" "0" "c.2111C>T" "r.(?)" "p.(Thr704Met)" ""
"0000984821" "00000370" "30" "2619" "7" "2619" "7" "c.2619+7dup" "r.(=)" "p.(=)" ""
"0001006925" "00000370" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Arg)" ""
"0001067720" "00000370" "50" "778" "3" "778" "3" "c.778+3A>G" "r.spl?" "p.?" ""
"0001067721" "00000370" "50" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Val753Ile)" ""
"0001068301" "00000370" "50" "2714" "0" "2714" "0" "c.2714A>T" "r.(?)" "p.(Glu905Val)" "24"
"0001068367" "00000370" "30" "3142" "0" "3142" "0" "c.3142T>C" "r.(?)" "p.(Ser1048Pro)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 33
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000001994"
"0000000209" "0000003030"
"0000000209" "0000007073"
"0000000209" "0000007074"
"0000000209" "0000007075"
"0000000209" "0000007076"
"0000000209" "0000007077"
"0000000209" "0000007078"
"0000000209" "0000007079"
"0000000209" "0000007080"
"0000000210" "0000009162"
"0000000210" "0000009163"
"0000000210" "0000009164"
"0000000210" "0000009165"
"0000000210" "0000009166"
"0000000210" "0000009167"
"0000000210" "0000009168"
"0000000210" "0000015046"
"0000058785" "0000089442"
"0000058785" "0000089443"
"0000058785" "0000089444"
"0000174176" "0000401124"
"0000174177" "0000401125"
"0000174178" "0000401126"
"0000174179" "0000401127"
"0000174333" "0000401128"
"0000174386" "0000401129"
"0000174447" "0000401130"
"0000182060" "0000405924"
"0000296255" "0000652944"
"0000388929" "0000817722"
"0000439834" "0000935963"
"0000474118" "0001068301"