### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF5A) # 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}}" "KIF5A" "kinesin family member 5A" "12" "q13.13" "unknown" "NG_008155.1" "UD_132118662627" "" "http://www.LOVD.nl/KIF5A" "" "1" "6323" "3798" "602821" "1" "1" "0" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/KIF5A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-15 10:54:54" "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}}" "00010584" "KIF5A" "kinesin family member 5A" "001" "NM_004984.2" "" "NP_004975.2" "" "" "" "-208" "3689" "3099" "57943847" "57978554" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00213" "SPG10" "paraplegia, spastic, autosomal dominant, type 10 (SPG-10)" "AD" "604187" "" "" "" "00008" "2013-10-02 11:35:03" "00006" "2021-12-10 21:51:32" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05556" "NEIMY" "myoclonus, intractable, neonatal (NEIMY)" "AD" "617235" "" "autosomal dominant" "" "00006" "2019-02-04 17:02:51" "00006" "2021-12-10 21:51:32" "05557" "ALS25" "sclerosis, lateral, amyotrophic, type 25 (ALS25)" "AD" "617921" "" "autosomal dominant" "" "00006" "2019-02-04 17:04:42" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KIF5A" "00213" "KIF5A" "05556" "KIF5A" "05557" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00003009" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat1mov;Pat12" "00003010" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "Pat2mov;Pat14" "00003011" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "F" "" "" "" "0" "" "" "" "Pat3mov;Pat13" "00039353" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00039354" "" "" "" "1" "" "01330" "" "" "" "" "Greece" "" "0" "" "" "" "" "00132963" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00154962" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00218999" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat9" "00227944" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00230655" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00245883" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00263901" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00275591" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00290769" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290770" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290771" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324664" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "173622" "00327003" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00332421" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00398668" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 2 affected siblings, affected mother" "M" "" "Italy" ">60y" "" "" "" "" "1141" "00410545" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat7" "00432374" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00444162" "" "" "" "1" "" "01709" "" "" "M" "?" "Brazil" "" "0" "" "" "" "" "00444163" "" "" "" "1" "" "01709" "" "" "M" "?" "Brazil" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00003009" "00213" "00003010" "00213" "00003011" "00213" "00039353" "00213" "00039354" "00213" "00132963" "00198" "00154962" "00198" "00218999" "05113" "00227944" "00198" "00230655" "00198" "00245883" "00198" "00263901" "00198" "00275591" "00198" "00290769" "00198" "00290770" "00198" "00290771" "00198" "00324664" "00213" "00327003" "00198" "00332421" "00213" "00398668" "00213" "00410545" "00198" "00432374" "04255" "00444162" "00325" "00444163" "00325" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00213, 00325, 04255, 05113, 05556, 05557 ## Count = 17 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001860" "00213" "00003009" "00130" "Familial, autosomal dominant" "" "hereditary spastic paraplegia" "<00y03m" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "" "0000001861" "00213" "00003010" "00130" "Familial, autosomal dominant" "" "hereditary spastic paraplegia" "29y" "" "" "" "" "" "" "" "SPG10" "hereditary spastic paraplegia" "" "0000001862" "00213" "00003011" "00130" "Familial, autosomal dominant" "" "hereditary spastic paraplegia" "47y" "" "" "" "" "" "" "" "" "hereditary spastic paraplegia" "" "0000029695" "00213" "00039353" "01330" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029696" "00213" "00039354" "01330" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105724" "00198" "00132963" "01807" "Unknown" "" "Abnormality of movement (HP:0100022); Polyneuropathy (HP:0001271)" "" "" "" "" "" "" "" "" "" "" "" "0000127694" "00198" "00154962" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000167556" "05113" "00218999" "00006" "Unknown" "" "CMT2 + pyramidal; no family history" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth diseae" "" "0000171935" "00198" "00227944" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258); Cognitive impairment (HP:0100543)" "" "" "" "" "" "" "" "" "" "" "" "0000173135" "00198" "00230655" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000185719" "00198" "00245883" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Tall stature (HP:0000098); Pachygyria (HP:0001302); Exotropia (HP:0000577); Astigmatism (HP:0000483); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "0000201808" "00198" "00263901" "01807" "Unknown" "" "Polyneuropathy (HP:0001271)" "" "" "" "" "" "" "" "" "" "" "" "0000210211" "00198" "00275591" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000243164" "00213" "00324664" "01164" "Unknown" "60y" "Lower limb spasticity, Spastic paraparesis, Spastic gait, Decreased vibratory sense in the lower limbs" "" "" "" "" "" "" "" "" "" "" "" "0000245482" "00198" "00327003" "01807" "Unknown" "" "Ataxia (HP:0001251); Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000291834" "00213" "00398668" "04188" "Familial, autosomal dominant" "60y" "Peripheral neuropathy (HP:0009830), Spastic paraplegia (HP:0001258), No decreased nerve conduction velocity (-HP:0000762)" "40y" "" "Peripheral neuropathy (HP:0009830), Spastic paraplegia (HP:0001258), No decreased nerve conduction velocity (-HP:0000762)" "" "" "" "" "" "SPG10" "CMT" "" "0000302648" "00198" "00410545" "00006" "Isolated (sporadic)" "" "see paper; ..., onset adulthood, axonal polyneuropathy, spastic paraplegia, no family history" "" "" "" "" "" "" "" "" "SPG10" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002915" "00003009" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000002916" "00003010" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000002917" "00003011" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000039591" "00039353" "1" "01330" "01330" "2015-06-13 11:38:16" "" "" "SEQ" "DNA" "" "" "0000039592" "00039354" "1" "01330" "01330" "2015-06-13 11:41:40" "" "" "SEQ" "DNA" "" "" "0000133797" "00132963" "0" "01807" "01807" "2017-11-10 16:51:16" "" "" "SEQ" "DNA" "" "" "0000155824" "00154962" "0" "01807" "01807" "2018-03-07 04:00:37" "" "" "SEQ" "DNA" "" "" "0000220071" "00218999" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000229030" "00227944" "1" "01807" "01807" "2019-03-15 19:53:48" "" "" "SEQ" "DNA" "" "" "0000231751" "00230655" "1" "01807" "01807" "2019-04-19 10:37:24" "" "" "SEQ" "DNA" "" "" "0000246995" "00245883" "1" "01807" "01807" "2019-07-11 09:47:40" "" "" "SEQ" "DNA" "" "" "0000265012" "00263901" "1" "01807" "01807" "2019-08-30 19:56:42" "" "" "SEQ" "DNA" "" "" "0000276749" "00275591" "1" "01807" "01807" "2020-01-09 21:04:00" "" "" "SEQ" "DNA" "" "" "0000291937" "00290769" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291938" "00290770" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291939" "00290771" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325872" "00324664" "1" "01164" "01164" "2020-12-21 17:10:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000328218" "00327003" "1" "01807" "01807" "2021-01-18 14:12:01" "" "" "SEQ" "DNA" "" "" "0000333645" "00332421" "1" "01741" "01741" "2021-02-19 10:01:49" "" "" "SEQ" "DNA" "" "" "0000399909" "00398668" "1" "04188" "04188" "2022-01-09 13:13:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000411810" "00410545" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433814" "00432374" "1" "01741" "01741" "2023-02-22 12:18:01" "" "" "SEQ-NG" "DNA" "" "" "0000445660" "00444162" "1" "01709" "01709" "2023-12-19 18:11:56" "" "" "SEQ-NG" "DNA" "Blood" "" "0000445661" "00444163" "1" "01709" "01709" "2023-12-19 20:18:00" "" "" "SEQ-NG" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000002915" "KIF5A" "0000002916" "KIF5A" "0000002917" "KIF5A" "0000039591" "KIF5A" "0000039592" "KIF5A" "0000220071" "KIF5A" "0000325872" "KIF5A" "0000333645" "KIF5A" "0000399909" "KIF5A" "0000433814" "KIF5A" ## 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 = 140 "{{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}}" "0000021289" "1" "70" "12" "57961298" "57961298" "subst" "0" "00130" "KIF5A_000004" "g.57961298G>A" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Unknown" "?" "" "0" "" "" "g.57567515G>A" "" "likely pathogenic" "" "0000021290" "1" "70" "12" "57962782" "57962782" "subst" "0" "00130" "KIF5A_000005" "g.57962782G>A" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "-" "Unknown" "?" "" "0" "" "" "g.57568999G>A" "" "likely pathogenic" "" "0000021291" "1" "70" "12" "57957995" "57957995" "subst" "0" "00130" "KIF5A_000003" "g.57957995G>A" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Unknown" "?" "" "0" "" "" "g.57564212G>A" "" "likely pathogenic" "" "0000067192" "0" "70" "12" "57962776" "57962776" "subst" "0" "01330" "KIF5A_000001" "g.57962776C>G" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.57568993C>G" "" "likely pathogenic" "" "0000067193" "0" "50" "12" "57974790" "57974790" "subst" "0" "01330" "KIF5A_000002" "g.57974790C>T" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.57581007C>T" "" "VUS" "" "0000223225" "0" "70" "12" "57961280" "57961280" "subst" "0" "01807" "KIF5A_000006" "g.57961280T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57567497T>A" "" "likely pathogenic" "" "0000247180" "0" "50" "12" "57970157" "57970157" "subst" "0" "02330" "KIF5A_000028" "g.57970157A>C" "" "" "" "KIF5A(NM_004984.4):c.2194A>C (p.K732Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57576374A>C" "" "VUS" "" "0000250810" "0" "30" "12" "57975281" "57975281" "subst" "0.000982773" "02326" "KIF5A_000032" "g.57975281A>G" "" "" "" "KIF5A(NM_004984.3):c.2839A>G (p.T947A), KIF5A(NM_004984.4):c.2839A>G (p.T947A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581498A>G" "" "likely benign" "" "0000254029" "0" "30" "12" "57975281" "57975281" "subst" "0.000982773" "01943" "KIF5A_000032" "g.57975281A>G" "" "" "" "KIF5A(NM_004984.3):c.2839A>G (p.T947A), KIF5A(NM_004984.4):c.2839A>G (p.T947A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581498A>G" "" "likely benign" "" "0000278590" "0" "30" "12" "57963454" "57963454" "subst" "0.000633489" "02330" "KIF5A_000012" "g.57963454C>T" "" "" "" "KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57569671C>T" "" "likely benign" "" "0000278591" "0" "10" "12" "57969558" "57969558" "subst" "0.00935077" "02330" "KIF5A_000027" "g.57969558C>T" "" "" "" "KIF5A(NM_004984.4):c.2023+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57575775C>T" "" "benign" "" "0000278592" "0" "30" "12" "57975211" "57975211" "subst" "0.00405764" "02330" "KIF5A_000020" "g.57975211G>A" "" "" "" "KIF5A(NM_004984.3):c.2769G>A (p.R923=), KIF5A(NM_004984.4):c.2769G>A (p.R923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581428G>A" "" "likely benign" "" "0000278593" "0" "50" "12" "57975366" "57975366" "subst" "3.6642E-5" "02330" "KIF5A_000033" "g.57975366G>A" "" "" "" "KIF5A(NM_004984.4):c.2909+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581583G>A" "" "VUS" "" "0000278594" "0" "10" "12" "57975700" "57975700" "subst" "0.011167" "02330" "KIF5A_000021" "g.57975700C>T" "" "" "" "KIF5A(NM_004984.4):c.2957C>T (p.P986L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581917C>T" "" "benign" "" "0000278595" "0" "10" "12" "57963020" "57963020" "subst" "0.00793219" "02330" "KIF5A_000026" "g.57963020G>T" "" "" "" "KIF5A(NM_004984.4):c.820-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57569237G>T" "" "benign" "" "0000285818" "0" "30" "12" "57975700" "57975700" "subst" "0.011167" "02326" "KIF5A_000021" "g.57975700C>T" "" "" "" "KIF5A(NM_004984.4):c.2957C>T (p.P986L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581917C>T" "" "likely benign" "" "0000290324" "0" "30" "12" "57971508" "57971508" "subst" "3.65556E-5" "01943" "KIF5A_000029" "g.57971508G>A" "" "" "" "KIF5A(NM_004984.3):c.2313G>A (p.E771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57577725G>A" "" "likely benign" "" "0000290325" "0" "30" "12" "57975211" "57975211" "subst" "0.00405764" "01943" "KIF5A_000020" "g.57975211G>A" "" "" "" "KIF5A(NM_004984.3):c.2769G>A (p.R923=), KIF5A(NM_004984.4):c.2769G>A (p.R923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581428G>A" "" "likely benign" "" "0000290326" "0" "30" "12" "57975217" "57975217" "subst" "3.25087E-5" "01943" "KIF5A_000030" "g.57975217C>A" "" "" "" "KIF5A(NM_004984.3):c.2775C>A (p.G925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581434C>A" "" "likely benign" "" "0000290327" "0" "30" "12" "57975245" "57975245" "subst" "1.21841E-5" "01943" "KIF5A_000031" "g.57975245C>T" "" "" "" "KIF5A(NM_004984.3):c.2803C>T (p.P935S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581462C>T" "" "likely benign" "" "0000290328" "0" "30" "12" "57976959" "57976959" "subst" "0" "01943" "KIF5A_000034" "g.57976959C>T" "" "" "" "KIF5A(NM_004984.3):c.3096C>T (p.S1032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57583176C>T" "" "likely benign" "" "0000290329" "0" "30" "12" "57961409" "57961409" "subst" "0.00118986" "01943" "KIF5A_000025" "g.57961409G>A" "" "" "" "KIF5A(NM_004984.3):c.714+8G>A, KIF5A(NM_004984.4):c.714+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57567626G>A" "" "likely benign" "" "0000338442" "0" "10" "12" "57977003" "57977003" "subst" "0.251706" "02327" "KIF5A_000022" "g.57977003C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57583220C>T" "" "benign" "" "0000338443" "0" "10" "12" "57977040" "57977040" "subst" "0" "02327" "KIF5A_000023" "g.57977040C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57583257C>A" "" "benign" "" "0000340251" "0" "10" "12" "57975211" "57975211" "subst" "0.00405764" "02327" "KIF5A_000020" "g.57975211G>A" "" "" "" "KIF5A(NM_004984.3):c.2769G>A (p.R923=), KIF5A(NM_004984.4):c.2769G>A (p.R923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581428G>A" "" "benign" "" "0000341070" "0" "30" "12" "57965933" "57965933" "subst" "0" "02327" "KIF5A_000015" "g.57965933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57572150G>A" "" "likely benign" "" "0000342207" "0" "70" "12" "57961298" "57961298" "subst" "0" "02327" "KIF5A_000004" "g.57961298G>A" "" "" "" "KIF5A(NM_004984.4):c.611G>A (p.R204Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57567515G>A" "" "likely pathogenic" "" "0000342208" "0" "90" "12" "57961297" "57961297" "subst" "0" "02327" "KIF5A_000009" "g.57961297C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57567514C>T" "" "pathogenic" "" "0000342638" "0" "50" "12" "57963187" "57963187" "subst" "0" "02327" "KIF5A_000011" "g.57963187G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57569404G>A" "" "VUS" "" "0000342750" "0" "30" "12" "57963454" "57963454" "subst" "0.000633489" "02327" "KIF5A_000012" "g.57963454C>T" "" "" "" "KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57569671C>T" "" "likely benign" "" "0000342841" "0" "50" "12" "57963874" "57963874" "subst" "1.63075E-5" "02327" "KIF5A_000013" "g.57963874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57570091C>T" "" "VUS" "" "0000345526" "0" "50" "12" "57970085" "57970085" "subst" "0" "02327" "KIF5A_000017" "g.57970085G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57576302G>T" "" "VUS" "" "0000345563" "0" "50" "12" "57972039" "57972039" "subst" "8.12949E-6" "02327" "KIF5A_000019" "g.57972039G>A" "" "" "" "KIF5A(NM_004984.4):c.2452G>A (p.E818K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57578256G>A" "" "VUS" "" "0000345815" "0" "50" "12" "57960966" "57960966" "subst" "0" "02327" "KIF5A_000008" "g.57960966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57567183G>A" "" "VUS" "" "0000346905" "0" "50" "12" "57958282" "57958283" "del" "0" "02327" "KIF5A_000007" "g.57958282_57958283del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57564499_57564500del" "" "VUS" "" "0000347222" "0" "50" "12" "57966454" "57966454" "subst" "0" "02327" "KIF5A_000016" "g.57966454T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57572671T>C" "" "VUS" "" "0000347293" "0" "50" "12" "57970103" "57970103" "subst" "0" "02327" "KIF5A_000018" "g.57970103C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57576320C>G" "" "VUS" "" "0000348341" "0" "70" "12" "57963052" "57963052" "subst" "0" "02327" "KIF5A_000010" "g.57963052C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57569269C>T" "" "likely pathogenic" "" "0000348631" "0" "10" "12" "57975700" "57975700" "subst" "0.011167" "02327" "KIF5A_000021" "g.57975700C>T" "" "" "" "KIF5A(NM_004984.4):c.2957C>T (p.P986L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57581917C>T" "" "benign" "" "0000351296" "0" "70" "12" "57957995" "57957995" "subst" "0" "02327" "KIF5A_000003" "g.57957995G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57564212G>A" "" "likely pathogenic" "" "0000356905" "0" "90" "12" "57965859" "57965859" "subst" "0" "01807" "KIF5A_000024" "g.57965859C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57572076C>T" "" "pathogenic" "" "0000454964" "1" "70" "12" "57962816" "57962816" "subst" "0" "00006" "KIF5A_000035" "g.57962816T>C" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pm1, pm2, pp3, pp4" "Germline" "" "" "0" "" "" "g.57569033T>C" "" "likely pathogenic" "ACMG" "0000470172" "0" "50" "12" "57960982" "57960982" "subst" "0" "01807" "KIF5A_000036" "g.57960982A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57567199A>T" "" "likely pathogenic" "" "0000473832" "0" "50" "12" "57961301" "57961301" "subst" "0" "01807" "KIF5A_000037" "g.57961301G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57567518G>A" "" "VUS" "" "0000499835" "0" "90" "12" "57975253" "57975253" "del" "0" "01807" "KIF5A_000038" "g.57975253del" "" "" "" "2811delC" "" "Unknown" "" "" "0" "" "" "g.57581470del" "" "pathogenic" "" "0000548783" "0" "30" "12" "57940372" "57940372" "subst" "0" "02330" "DCTN2_000001" "g.57940372T>C" "" "" "" "DCTN2(NM_001261412.2):c.36+439A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57546589T>C" "" "likely benign" "" "0000548784" "0" "30" "12" "57940858" "57940858" "subst" "0" "02330" "DCTN2_000002" "g.57940858G>A" "" "" "" "DCTN2(NM_001261412.2):c.-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57547075G>A" "" "likely benign" "" "0000548785" "0" "30" "12" "57957314" "57957314" "subst" "1.62434E-5" "01943" "KIF5A_000039" "g.57957314T>C" "" "" "" "KIF5A(NM_004984.3):c.217+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57563531T>C" "" "likely benign" "" "0000548786" "0" "70" "12" "57958739" "57958739" "subst" "4.06105E-6" "02325" "KIF5A_000040" "g.57958739C>T" "" "" "" "KIF5A(NM_004984.4):c.484C>T (p.R162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57564956C>T" "" "likely pathogenic" "" "0000548787" "0" "30" "12" "57960902" "57960902" "subst" "0" "01943" "KIF5A_000041" "g.57960902C>T" "" "" "" "KIF5A(NM_004984.3):c.502-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57567119C>T" "" "likely benign" "" "0000548788" "0" "30" "12" "57961016" "57961016" "subst" "4.06134E-6" "02330" "KIF5A_000042" "g.57961016G>A" "" "" "" "KIF5A(NM_004984.4):c.589+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57567233G>A" "" "likely benign" "" "0000548789" "0" "50" "12" "57963186" "57963186" "subst" "0" "02327" "KIF5A_000043" "g.57963186C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57569403C>T" "" "VUS" "" "0000548790" "0" "50" "12" "57963454" "57963454" "subst" "0.000633489" "01943" "KIF5A_000012" "g.57963454C>T" "" "" "" "KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57569671C>T" "" "VUS" "" "0000548791" "0" "30" "12" "57963454" "57963454" "subst" "0.000633489" "02325" "KIF5A_000012" "g.57963454C>T" "" "" "" "KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57569671C>T" "" "likely benign" "" "0000548792" "0" "50" "12" "57963455" "57963455" "subst" "8.22538E-6" "02327" "KIF5A_000044" "g.57963455G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57569672G>A" "" "VUS" "" "0000548793" "0" "50" "12" "57963455" "57963455" "subst" "0" "02330" "KIF5A_000045" "g.57963455G>T" "" "" "" "KIF5A(NM_004984.4):c.1106G>T (p.R369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57569672G>T" "" "VUS" "" "0000548794" "0" "50" "12" "57963456" "57963456" "subst" "0" "02330" "KIF5A_000046" "g.57963456G>C" "" "" "" "KIF5A(NM_004984.4):c.1107G>C (p.R369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57569673G>C" "" "VUS" "" "0000548795" "0" "30" "12" "57963817" "57963817" "subst" "0" "02330" "KIF5A_000047" "g.57963817C>T" "" "" "" "KIF5A(NM_004984.4):c.1165C>T (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57570034C>T" "" "likely benign" "" "0000548796" "0" "50" "12" "57963910" "57963912" "del" "0" "02329" "KIF5A_000048" "g.57963910_57963912del" "" "" "" "KIF5A(NM_004984.4):c.1258_1260delGAG (p.E420del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57570127_57570129del" "" "VUS" "" "0000548797" "0" "50" "12" "57970116" "57970116" "subst" "0" "02327" "KIF5A_000049" "g.57970116G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57576333G>T" "" "VUS" "" "0000548798" "0" "30" "12" "57975281" "57975281" "subst" "0.000982773" "02330" "KIF5A_000032" "g.57975281A>G" "" "" "" "KIF5A(NM_004984.3):c.2839A>G (p.T947A), KIF5A(NM_004984.4):c.2839A>G (p.T947A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57581498A>G" "" "likely benign" "" "0000548799" "0" "30" "12" "57975747" "57975747" "dup" "0" "02330" "KIF5A_000050" "g.57975747dup" "" "" "" "KIF5A(NM_004984.4):c.2992+12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57581964dup" "" "likely benign" "" "0000595591" "0" "70" "12" "57974956" "57974956" "subst" "0" "01807" "KIF5A_000051" "g.57974956G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57581173G>T" "" "likely pathogenic" "" "0000614321" "0" "50" "12" "57944106" "57944106" "subst" "4.0622E-6" "02330" "DCTN2_000004" "g.57944106C>T" "" "" "" "KIF5A(NM_004984.4):c.52C>T (p.P18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57550323C>T" "" "VUS" "" "0000614322" "0" "50" "12" "57961376" "57961376" "subst" "0" "02327" "KIF5A_000052" "g.57961376T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57567593T>C" "" "VUS" "" "0000614323" "0" "10" "12" "57963954" "57963954" "subst" "0.00181315" "02330" "KIF5A_000054" "g.57963954G>A" "" "" "" "KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57570171G>A" "" "benign" "" "0000614324" "0" "50" "12" "57969883" "57969883" "subst" "4.06072E-6" "02326" "KIF5A_000055" "g.57969883A>C" "" "" "" "KIF5A(NM_004984.4):c.2037A>C (p.E679D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57576100A>C" "" "VUS" "" "0000614325" "0" "10" "12" "57971848" "57971848" "subst" "0.000808161" "02330" "KIF5A_000057" "g.57971848G>A" "" "" "" "KIF5A(NM_004984.4):c.2418G>A (p.T806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57578065G>A" "" "benign" "" "0000622948" "0" "90" "12" "57961298" "57961298" "subst" "0" "02330" "KIF5A_000004" "g.57961298G>A" "" "" "" "KIF5A(NM_004984.4):c.611G>A (p.R204Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57567515G>A" "" "pathogenic" "" "0000622949" "0" "30" "12" "57963802" "57963802" "subst" "0.000451903" "02330" "KIF5A_000053" "g.57963802G>C" "" "" "" "KIF5A(NM_004984.4):c.1150G>C (p.G384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57570019G>C" "" "likely benign" "" "0000622950" "0" "30" "12" "57970617" "57970617" "subst" "0.000641781" "02330" "KIF5A_000056" "g.57970617G>A" "" "" "" "KIF5A(NM_004984.3):c.2272G>A (p.E758K), KIF5A(NM_004984.4):c.2272G>A (p.E758K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57576834G>A" "" "likely benign" "" "0000630882" "0" "90" "12" "57966429" "57966429" "subst" "4.06078E-6" "01807" "KIF5A_000058" "g.57966429C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57572646C>T" "" "pathogenic" "" "0000648626" "1" "90" "12" "57961298" "57961298" "subst" "0" "03575" "KIF5A_000004" "g.57961298G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs387907287}" "Germline" "" "rs387907287" "0" "" "" "g.57567515G>A" "" "pathogenic" "" "0000648627" "1" "50" "12" "57963454" "57963454" "subst" "0.000633489" "03575" "KIF5A_000012" "g.57963454C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs140929639}" "Germline" "" "rs140929639" "0" "" "" "g.57569671C>T" "" "VUS" "" "0000648628" "1" "30" "12" "57975700" "57975700" "subst" "0.011167" "03575" "KIF5A_000021" "g.57975700C>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs113247976}" "Germline" "" "rs113247976" "0" "" "" "g.57581917C>T" "" "likely benign" "" "0000657164" "0" "50" "12" "57939824" "57939824" "subst" "0.000231481" "02330" "DCTN2_000005" "g.57939824G>A" "" "" "" "DCTN2(NM_001348065.2):c.221C>T (p.A74V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57546041G>A" "" "VUS" "" "0000657165" "0" "50" "12" "57966034" "57966034" "subst" "0" "02327" "KIF5A_000059" "g.57966034A>T" "" "" "" "KIF5A(NM_004984.4):c.1553A>T (p.E518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57572251A>T" "" "VUS" "" "0000657166" "0" "50" "12" "57966495" "57966495" "subst" "1.21831E-5" "02327" "KIF5A_000060" "g.57966495G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57572712G>A" "" "VUS" "" "0000657167" "0" "30" "12" "57971848" "57971848" "subst" "0.000808161" "02326" "KIF5A_000057" "g.57971848G>A" "" "" "" "KIF5A(NM_004984.4):c.2418G>A (p.T806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57578065G>A" "" "likely benign" "" "0000657168" "0" "50" "12" "57976415" "57976415" "subst" "0" "02327" "KIF5A_000061" "g.57976415A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57582632A>G" "" "VUS" "" "0000679608" "0" "70" "12" "57957448" "57957448" "subst" "0" "02325" "KIF5A_000062" "g.57957448C>T" "" "" "" "KIF5A(NM_004984.4):c.263C>T (p.T88I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679609" "0" "30" "12" "57958726" "57958726" "subst" "0.000462933" "01943" "KIF5A_000063" "g.57958726C>T" "" "" "" "KIF5A(NM_004984.3):c.471C>T (p.H157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679610" "0" "50" "12" "57966055" "57966055" "subst" "0" "02325" "KIF5A_000064" "g.57966055G>A" "" "" "" "KIF5A(NM_004984.4):c.1569+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691398" "0" "70" "12" "57965859" "57965859" "subst" "0" "01943" "KIF5A_000024" "g.57965859C>T" "" "" "" "KIF5A(NM_004984.3):c.1378C>T (p.R460*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691399" "0" "50" "12" "57966055" "57966055" "subst" "0" "02327" "KIF5A_000064" "g.57966055G>A" "" "" "" "KIF5A(NM_004984.4):c.1569+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000709027" "0" "70" "12" "57957883" "57957899" "del" "0" "01164" "KIF5A_000065" "g.57957883_57957899del" "" "" "" "" "ACMG: PVS1, PM2: class 4" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000712150" "0" "50" "12" "57963382" "57963382" "subst" "0" "01807" "KIF5A_000066" "g.57963382A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000724163" "0" "30" "12" "57944072" "57944072" "subst" "0" "02330" "DCTN2_000009" "g.57944072C>T" "" "" "" "KIF5A(NM_004984.4):c.18C>T (p.N6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724164" "0" "50" "12" "57957445" "57957445" "subst" "0" "02330" "KIF5A_000067" "g.57957445A>G" "" "" "" "KIF5A(NM_004984.4):c.260A>G (p.Q87R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724165" "0" "30" "12" "57963816" "57963816" "subst" "8.1414E-6" "02330" "KIF5A_000068" "g.57963816C>A" "" "" "" "KIF5A(NM_004984.4):c.1164C>A (p.A388=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724166" "0" "30" "12" "57963954" "57963954" "subst" "0.00181315" "01943" "KIF5A_000054" "g.57963954G>A" "" "" "" "KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724167" "0" "30" "12" "57963954" "57963954" "subst" "0.00181315" "02326" "KIF5A_000054" "g.57963954G>A" "" "" "" "KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724168" "0" "30" "12" "57970540" "57970540" "subst" "0.000865432" "02326" "KIF5A_000069" "g.57970540G>A" "" "" "" "KIF5A(NM_004984.4):c.2199-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000731365" "0" "90" "12" "57944150" "57944151" "del" "0" "01741" "KIF5A_000070" "g.57944150_57944151del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.57550367_57550368del" "" "pathogenic" "" "0000805877" "0" "50" "12" "57962799" "57962799" "subst" "0" "02330" "KIF5A_000071" "g.57962799C>A" "" "" "" "KIF5A(NM_004984.4):c.768C>A (p.N256K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805878" "0" "90" "12" "57965139" "57965139" "dup" "0" "01943" "KIF5A_000072" "g.57965139dup" "" "" "" "KIF5A(NM_004984.3):c.1329dupG (p.K444Efs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805879" "0" "30" "12" "57969886" "57969886" "subst" "0.000337042" "01943" "KIF5A_000073" "g.57969886G>A" "" "" "" "KIF5A(NM_004984.3):c.2040G>A (p.V680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805880" "0" "50" "12" "57972039" "57972039" "subst" "8.12949E-6" "02329" "KIF5A_000019" "g.57972039G>A" "" "" "" "KIF5A(NM_004984.4):c.2452G>A (p.E818K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000832575" "21" "90" "12" "57975310" "57975312" "del" "1.2184E-5" "04188" "KIF5A_000074" "g.57975310_57975312del" "" "{PMID:Ferese 2021:34354735}" "" "2868_2870delTCT" "ACMG: PM1-PM2-PM4-PP3" "Germline" "" "rs575223790" "" "" "" "g.57581527_57581529del" "SCV001424521" "likely pathogenic (dominant)" "ACMG" "0000853471" "0" "50" "12" "57963319" "57963319" "subst" "0" "02330" "KIF5A_000077" "g.57963319G>A" "" "" "" "KIF5A(NM_004984.2):c.970G>A (p.(Ala324Thr)), KIF5A(NM_004984.4):c.970G>A (p.A324T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853472" "0" "50" "12" "57970086" "57970086" "subst" "0" "02327" "KIF5A_000079" "g.57970086A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853473" "0" "30" "12" "57970617" "57970617" "subst" "0.000641781" "01943" "KIF5A_000056" "g.57970617G>A" "" "" "" "KIF5A(NM_004984.3):c.2272G>A (p.E758K), KIF5A(NM_004984.4):c.2272G>A (p.E758K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863081" "0" "50" "12" "57944106" "57944106" "subst" "4.0622E-6" "02327" "DCTN2_000004" "g.57944106C>T" "" "" "" "KIF5A(NM_004984.4):c.52C>T (p.P18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863083" "0" "50" "12" "57957481" "57957481" "subst" "1.21825E-5" "02326" "KIF5A_000076" "g.57957481G>A" "" "" "" "KIF5A(NM_004984.4):c.291+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863084" "0" "30" "12" "57965870" "57965870" "subst" "0.000211497" "02330" "KIF5A_000078" "g.57965870C>T" "" "" "" "KIF5A(NM_004984.4):c.1389C>T (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863085" "0" "30" "12" "57970616" "57970616" "subst" "8.1242E-6" "01943" "KIF5A_000080" "g.57970616C>T" "" "" "" "KIF5A(NM_004984.3):c.2271C>T (p.H757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863086" "0" "50" "12" "57971509" "57971509" "subst" "0" "02327" "KIF5A_000081" "g.57971509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869047" "0" "70" "12" "57963186" "57963186" "subst" "0" "00006" "KIF5A_000043" "g.57963186C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PM1, PM2, PP2, PP3" "De novo" "" "" "0" "" "" "g.57569403C>T" "" "likely pathogenic (recessive)" "" "0000890709" "0" "30" "12" "57965870" "57965870" "subst" "0.000211497" "02326" "KIF5A_000078" "g.57965870C>T" "" "" "" "KIF5A(NM_004984.4):c.1389C>T (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890710" "0" "30" "12" "57969420" "57969420" "subst" "4.06101E-6" "02325" "KIF5A_000082" "g.57969420C>T" "" "" "" "KIF5A(NM_004984.4):c.1906-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890711" "0" "30" "12" "57970592" "57970592" "subst" "2.84329E-5" "02330" "KIF5A_000083" "g.57970592C>T" "" "" "" "KIF5A(NM_004984.4):c.2247C>T (p.Y749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890712" "0" "30" "12" "57970617" "57970617" "subst" "0.000641781" "02325" "KIF5A_000056" "g.57970617G>A" "" "" "" "KIF5A(NM_004984.3):c.2272G>A (p.E758K), KIF5A(NM_004984.4):c.2272G>A (p.E758K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890713" "0" "50" "12" "57975733" "57975733" "subst" "1.62437E-5" "02327" "KIF5A_000084" "g.57975733A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913918" "0" "10" "12" "57958009" "57958009" "subst" "0.00168478" "02326" "KIF5A_000085" "g.57958009G>A" "" "" "" "KIF5A(NM_004984.4):c.396+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913919" "0" "10" "12" "57961409" "57961409" "subst" "0.00118986" "02330" "KIF5A_000025" "g.57961409G>A" "" "" "" "KIF5A(NM_004984.3):c.714+8G>A, KIF5A(NM_004984.4):c.714+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000919457" "0" "50" "12" "57974844" "57974844" "subst" "0" "01741" "KIF5A_000086" "g.57974844G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "" "0000925670" "0" "90" "12" "57965956" "57965959" "del" "0" "02325" "KIF5A_000087" "g.57965956_57965959del" "" "" "" "KIF5A(NM_004984.4):c.1475_1478delAGGA (p.E492Gfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925671" "0" "30" "12" "57975747" "57975747" "dup" "0" "02326" "KIF5A_000050" "g.57975747dup" "" "" "" "KIF5A(NM_004984.4):c.2992+12dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000953803" "0" "70" "12" "57966423" "57966423" "subst" "4.06081E-6" "01709" "KIF5A_000089" "g.57966423C>T" "" "" "" "" "" "Unknown" "" "rs1318854821" "0" "" "" "g.57572640C>T" "" "likely pathogenic" "ACMG" "0000953804" "0" "50" "12" "57963371" "57963371" "subst" "0" "01709" "KIF5A_000088" "g.57963371A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.57569588A>G" "" "VUS" "ACMG" "0000967017" "0" "30" "12" "57957244" "57957244" "subst" "0.000150249" "02326" "KIF5A_000090" "g.57957244G>A" "" "" "" "KIF5A(NM_004984.4):c.152G>A (p.R51H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967018" "0" "70" "12" "57962782" "57962782" "subst" "0" "02327" "KIF5A_000005" "g.57962782G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980399" "0" "50" "12" "57957472" "57957472" "subst" "0" "01804" "KIF5A_000091" "g.57957472T>G" "" "" "" "KIF5A(NM_004984.4):c.287T>G (p.(Met96Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980400" "0" "50" "12" "57957930" "57957930" "subst" "0" "01804" "KIF5A_000092" "g.57957930C>T" "" "" "" "KIF5A(NM_004984.4):c.331C>T (p.(Arg111Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980401" "0" "50" "12" "57958280" "57958280" "subst" "0" "02327" "KIF5A_000093" "g.57958280A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980402" "0" "50" "12" "57970125" "57970125" "subst" "0" "02330" "KIF5A_000094" "g.57970125T>G" "" "" "" "KIF5A(NM_004984.4):c.2162T>G (p.I721S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980403" "0" "10" "12" "57970540" "57970540" "subst" "0.000865432" "02330" "KIF5A_000069" "g.57970540G>A" "" "" "" "KIF5A(NM_004984.4):c.2199-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001000259" "0" "30" "12" "57963319" "57963319" "subst" "0" "01804" "KIF5A_000077" "g.57963319G>A" "" "" "" "KIF5A(NM_004984.2):c.970G>A (p.(Ala324Thr)), KIF5A(NM_004984.4):c.970G>A (p.A324T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000260" "0" "50" "12" "57965844" "57965844" "subst" "0" "01804" "KIF5A_000095" "g.57965844C>T" "" "" "" "KIF5A(NM_004984.2):c.1363C>T (p.(Leu455Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000261" "0" "50" "12" "57970125" "57970125" "subst" "0" "02329" "KIF5A_000094" "g.57970125T>G" "" "" "" "KIF5A(NM_004984.4):c.2162T>G (p.I721S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000262" "0" "50" "12" "57970626" "57970626" "subst" "0" "01804" "KIF5A_000096" "g.57970626A>G" "" "" "" "KIF5A(NM_004984.2):c.2281A>G (p.(Thr761Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015005" "0" "10" "12" "57958009" "57958009" "subst" "0.00168478" "02330" "KIF5A_000085" "g.57958009G>A" "" "" "" "KIF5A(NM_004984.4):c.396+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015006" "0" "30" "12" "57963802" "57963802" "subst" "0.000451903" "02325" "KIF5A_000053" "g.57963802G>C" "" "" "" "KIF5A(NM_004984.4):c.1150G>C (p.G384R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015007" "0" "10" "12" "57963828" "57963828" "subst" "0.00563435" "02330" "KIF5A_000097" "g.57963828G>A" "" "" "" "KIF5A(NM_004984.4):c.1176G>A (p.E392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015008" "0" "30" "12" "57963916" "57963916" "subst" "0.000130817" "02330" "KIF5A_000098" "g.57963916C>T" "" "" "" "KIF5A(NM_004984.4):c.1264C>T (p.R422C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015009" "0" "50" "12" "57966034" "57966034" "subst" "0" "02325" "KIF5A_000059" "g.57966034A>T" "" "" "" "KIF5A(NM_004984.4):c.1553A>T (p.E518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026220" "0" "30" "12" "57969443" "57969443" "subst" "6.49757E-5" "02330" "KIF5A_000099" "g.57969443G>A" "" "" "" "KIF5A(NM_004984.4):c.1926G>A (p.S642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039393" "0" "50" "12" "57957931" "57957931" "subst" "0" "02325" "KIF5A_000100" "g.57957931G>C" "" "" "" "KIF5A(NM_004984.4):c.332G>C (p.R111P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039394" "0" "50" "12" "57965883" "57965883" "subst" "4.06669E-6" "02325" "KIF5A_000101" "g.57965883C>T" "" "" "" "KIF5A(NM_004984.4):c.1402C>T (p.R468W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039395" "0" "30" "12" "57968584" "57968584" "subst" "0" "01804" "KIF5A_000102" "g.57968584T>C" "" "" "" "KIF5A(NM_004984.4):c.1717-283T>C" "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 KIF5A ## Count = 140 "{{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}}" "0000021289" "00010584" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000021290" "00010584" "70" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Glu251Lys)" "-" "0000021291" "00010584" "70" "396" "0" "396" "0" "c.396G>A" "r.396_397ins396+1_397-1" "p.?" "-" "0000067192" "00010584" "70" "745" "0" "745" "0" "c.745C>G" "r.(?)" "p.(Leu249Val)" "9" "0000067193" "00010584" "50" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Arg864*)" "24" "0000223225" "00010584" "70" "593" "0" "593" "0" "c.593T>A" "r.(?)" "p.(Met198Lys)" "" "0000247180" "00010584" "50" "2194" "0" "2194" "0" "c.2194A>C" "r.(?)" "p.(Lys732Gln)" "" "0000250810" "00010584" "30" "2839" "0" "2839" "0" "c.2839A>G" "r.(?)" "p.(Thr947Ala)" "" "0000254029" "00010584" "30" "2839" "0" "2839" "0" "c.2839A>G" "r.(?)" "p.(Thr947Ala)" "" "0000278590" "00010584" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Trp)" "" "0000278591" "00010584" "10" "2023" "18" "2023" "18" "c.2023+18C>T" "r.(=)" "p.(=)" "" "0000278592" "00010584" "30" "2769" "0" "2769" "0" "c.2769G>A" "r.(?)" "p.(Arg923=)" "" "0000278593" "00010584" "50" "2909" "15" "2909" "15" "c.2909+15G>A" "r.(=)" "p.(=)" "" "0000278594" "00010584" "10" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "" "0000278595" "00010584" "10" "820" "-19" "820" "-19" "c.820-19G>T" "r.(=)" "p.(=)" "" "0000285818" "00010584" "30" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "" "0000290324" "00010584" "30" "2313" "0" "2313" "0" "c.2313G>A" "r.(?)" "p.(Glu771=)" "" "0000290325" "00010584" "30" "2769" "0" "2769" "0" "c.2769G>A" "r.(?)" "p.(Arg923=)" "" "0000290326" "00010584" "30" "2775" "0" "2775" "0" "c.2775C>A" "r.(?)" "p.(Gly925=)" "" "0000290327" "00010584" "30" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(Pro935Ser)" "" "0000290328" "00010584" "30" "3096" "0" "3096" "0" "c.3096C>T" "r.(?)" "p.(Ser1032=)" "" "0000290329" "00010584" "30" "714" "8" "714" "8" "c.714+8G>A" "r.(=)" "p.(=)" "" "0000338442" "00010584" "10" "3135" "5" "3135" "5" "c.*36+5C>T" "r.spl?" "p.?" "" "0000338443" "00010584" "10" "3135" "42" "3135" "42" "c.*36+42C>A" "r.(=)" "p.(=)" "" "0000340251" "00010584" "10" "2769" "0" "2769" "0" "c.2769G>A" "r.(?)" "p.(Arg923=)" "" "0000341070" "00010584" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Val484=)" "" "0000342207" "00010584" "70" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000342208" "00010584" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Trp)" "" "0000342638" "00010584" "50" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Arg323Gln)" "" "0000342750" "00010584" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Trp)" "" "0000342841" "00010584" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000345526" "00010584" "50" "2122" "0" "2122" "0" "c.2122G>T" "r.(?)" "p.(Glu708Ter)" "" "0000345563" "00010584" "50" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000345815" "00010584" "50" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Arg)" "" "0000346905" "00010584" "50" "436" "0" "437" "0" "c.436_437del" "r.(?)" "p.(Leu146SerfsTer25)" "" "0000347222" "00010584" "50" "1661" "0" "1661" "0" "c.1661T>C" "r.(?)" "p.(Leu554Pro)" "" "0000347293" "00010584" "50" "2140" "0" "2140" "0" "c.2140C>G" "r.(?)" "p.(Leu714Val)" "" "0000348341" "00010584" "70" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000348631" "00010584" "10" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "" "0000351296" "00010584" "70" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Lys132=)" "" "0000356905" "00010584" "90" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460*)" "" "0000454964" "00010584" "70" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Leu262Pro)" "" "0000470172" "00010584" "50" "575" "0" "575" "0" "c.575A>T" "r.(?)" "p.(His192Leu)" "" "0000473832" "00010584" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Ser205Asn)" "" "0000499835" "00010584" "90" "2811" "0" "2811" "0" "c.2811del" "r.(?)" "p.(Thr938Profs*110)" "" "0000548783" "00010584" "30" "-3683" "0" "-3683" "0" "c.-3683T>C" "r.(?)" "p.(=)" "" "0000548784" "00010584" "30" "-3197" "0" "-3197" "0" "c.-3197G>A" "r.(?)" "p.(=)" "" "0000548785" "00010584" "30" "217" "5" "217" "5" "c.217+5T>C" "r.spl?" "p.?" "" "0000548786" "00010584" "70" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Trp)" "" "0000548787" "00010584" "30" "502" "-7" "502" "-7" "c.502-7C>T" "r.(=)" "p.(=)" "" "0000548788" "00010584" "30" "589" "20" "589" "20" "c.589+20G>A" "r.(=)" "p.(=)" "" "0000548789" "00010584" "50" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Trp)" "" "0000548790" "00010584" "50" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Trp)" "" "0000548791" "00010584" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Trp)" "" "0000548792" "00010584" "50" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369Gln)" "" "0000548793" "00010584" "50" "1106" "0" "1106" "0" "c.1106G>T" "r.(?)" "p.(Arg369Leu)" "" "0000548794" "00010584" "50" "1107" "0" "1107" "0" "c.1107G>C" "r.(?)" "p.(Arg369=)" "" "0000548795" "00010584" "30" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Leu389=)" "" "0000548796" "00010584" "50" "1258" "0" "1260" "0" "c.1258_1260del" "r.(?)" "p.(Glu420del)" "" "0000548797" "00010584" "50" "2153" "0" "2153" "0" "c.2153G>T" "r.(?)" "p.(Arg718Leu)" "" "0000548798" "00010584" "30" "2839" "0" "2839" "0" "c.2839A>G" "r.(?)" "p.(Thr947Ala)" "" "0000548799" "00010584" "30" "2992" "12" "2992" "12" "c.2992+12dup" "r.(=)" "p.(=)" "" "0000595591" "00010584" "70" "2755" "1" "2755" "1" "c.2755+1G>T" "r.spl" "p.?" "" "0000614321" "00010584" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "" "0000614322" "00010584" "50" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Leu230Pro)" "" "0000614323" "00010584" "10" "1293" "9" "1293" "9" "c.1293+9G>A" "r.(=)" "p.(=)" "" "0000614324" "00010584" "50" "2037" "0" "2037" "0" "c.2037A>C" "r.(?)" "p.(Glu679Asp)" "" "0000614325" "00010584" "10" "2418" "0" "2418" "0" "c.2418G>A" "r.(?)" "p.(Thr806=)" "" "0000622948" "00010584" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000622949" "00010584" "30" "1150" "0" "1150" "0" "c.1150G>C" "r.(?)" "p.(Gly384Arg)" "" "0000622950" "00010584" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Glu758Lys)" "" "0000630882" "00010584" "90" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546*)" "" "0000648626" "00010584" "90" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000648627" "00010584" "50" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Arg369Trp)" "" "0000648628" "00010584" "30" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Pro986Leu)" "" "0000657164" "00010584" "50" "-4231" "0" "-4231" "0" "c.-4231G>A" "r.(?)" "p.(=)" "" "0000657165" "00010584" "50" "1553" "0" "1553" "0" "c.1553A>T" "r.(?)" "p.(Glu518Val)" "" "0000657166" "00010584" "50" "1702" "0" "1702" "0" "c.1702G>A" "r.(?)" "p.(Gly568Arg)" "" "0000657167" "00010584" "30" "2418" "0" "2418" "0" "c.2418G>A" "r.(?)" "p.(Thr806=)" "" "0000657168" "00010584" "50" "3020" "3" "3020" "3" "c.3020+3A>G" "r.spl?" "p.?" "" "0000679608" "00010584" "70" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Thr88Ile)" "" "0000679609" "00010584" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(His157=)" "" "0000679610" "00010584" "50" "1569" "5" "1569" "5" "c.1569+5G>A" "r.spl?" "p.?" "" "0000691398" "00010584" "70" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460Ter)" "" "0000691399" "00010584" "50" "1569" "5" "1569" "5" "c.1569+5G>A" "r.spl?" "p.?" "" "0000709027" "00010584" "70" "292" "-8" "300" "0" "c.292-8_300del" "r.spl" "p.?" "" "0000712150" "00010584" "50" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Lys345Glu)" "" "0000724163" "00010584" "30" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Asn6=)" "" "0000724164" "00010584" "50" "260" "0" "260" "0" "c.260A>G" "r.(?)" "p.(Gln87Arg)" "" "0000724165" "00010584" "30" "1164" "0" "1164" "0" "c.1164C>A" "r.(?)" "p.(Ala388=)" "" "0000724166" "00010584" "30" "1293" "9" "1293" "9" "c.1293+9G>A" "r.(=)" "p.(=)" "" "0000724167" "00010584" "30" "1293" "9" "1293" "9" "c.1293+9G>A" "r.(=)" "p.(=)" "" "0000724168" "00010584" "30" "2199" "-4" "2199" "-4" "c.2199-4G>A" "r.spl?" "p.?" "" "0000731365" "00010584" "90" "96" "0" "97" "0" "c.96_97del" "r.(?)" "p.(Ile33Phefs*17)" "" "0000805877" "00010584" "50" "768" "0" "768" "0" "c.768C>A" "r.(?)" "p.(Asn256Lys)" "" "0000805878" "00010584" "90" "1329" "0" "1329" "0" "c.1329dup" "r.(?)" "p.(Lys444Glufs*38)" "" "0000805879" "00010584" "30" "2040" "0" "2040" "0" "c.2040G>A" "r.(?)" "p.(Val680=)" "" "0000805880" "00010584" "50" "2452" "0" "2452" "0" "c.2452G>A" "r.(?)" "p.(Glu818Lys)" "" "0000832575" "00010584" "90" "2868" "0" "2870" "0" "c.2868_2870del" "r.(?)" "p.(Leu957del)" "" "0000853471" "00010584" "50" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Ala324Thr)" "" "0000853472" "00010584" "50" "2123" "0" "2123" "0" "c.2123A>G" "r.(?)" "p.(Glu708Gly)" "" "0000853473" "00010584" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Glu758Lys)" "" "0000863081" "00010584" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "" "0000863083" "00010584" "50" "291" "5" "291" "5" "c.291+5G>A" "r.spl?" "p.?" "" "0000863084" "00010584" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Asn463=)" "" "0000863085" "00010584" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(His757=)" "" "0000863086" "00010584" "50" "2314" "0" "2314" "0" "c.2314C>T" "r.(?)" "p.(Arg772*)" "" "0000869047" "00010584" "70" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Trp)" "" "0000890709" "00010584" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Asn463=)" "" "0000890710" "00010584" "30" "1906" "-3" "1906" "-3" "c.1906-3C>T" "r.spl?" "p.?" "" "0000890711" "00010584" "30" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(Tyr749=)" "" "0000890712" "00010584" "30" "2272" "0" "2272" "0" "c.2272G>A" "r.(?)" "p.(Glu758Lys)" "" "0000890713" "00010584" "50" "2990" "0" "2990" "0" "c.2990A>T" "r.(?)" "p.(Asn997Ile)" "" "0000913918" "00010584" "10" "396" "14" "396" "14" "c.396+14G>A" "r.(=)" "p.(=)" "" "0000913919" "00010584" "10" "714" "8" "714" "8" "c.714+8G>A" "r.(=)" "p.(=)" "" "0000919457" "00010584" "50" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Ala882Thr)" "" "0000925670" "00010584" "90" "1475" "0" "1478" "0" "c.1475_1478del" "r.(?)" "p.(Glu492Glyfs*4)" "" "0000925671" "00010584" "30" "2992" "12" "2992" "12" "c.2992+12dup" "r.(=)" "p.(=)" "" "0000953803" "00010584" "70" "1630" "0" "1630" "0" "c.1630C>T" "r.(?)" "p.(Arg544*)" "15" "0000953804" "00010584" "50" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Gln341Arg)" "11" "0000967017" "00010584" "30" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51His)" "" "0000967018" "00010584" "70" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Glu251Lys)" "" "0000980399" "00010584" "50" "287" "0" "287" "0" "c.287T>G" "r.(?)" "p.(Met96Arg)" "" "0000980400" "00010584" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" "0000980401" "00010584" "50" "434" "0" "434" "0" "c.434A>T" "r.(?)" "p.(Asp145Val)" "" "0000980402" "00010584" "50" "2162" "0" "2162" "0" "c.2162T>G" "r.(?)" "p.(Ile721Ser)" "" "0000980403" "00010584" "10" "2199" "-4" "2199" "-4" "c.2199-4G>A" "r.spl?" "p.?" "" "0001000259" "00010584" "30" "970" "0" "970" "0" "c.970G>A" "r.(?)" "p.(Ala324Thr)" "" "0001000260" "00010584" "50" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(=)" "" "0001000261" "00010584" "50" "2162" "0" "2162" "0" "c.2162T>G" "r.(?)" "p.(Ile721Ser)" "" "0001000262" "00010584" "50" "2281" "0" "2281" "0" "c.2281A>G" "r.(?)" "p.(Thr761Ala)" "" "0001015005" "00010584" "10" "396" "14" "396" "14" "c.396+14G>A" "r.(=)" "p.(=)" "" "0001015006" "00010584" "30" "1150" "0" "1150" "0" "c.1150G>C" "r.(?)" "p.(Gly384Arg)" "" "0001015007" "00010584" "10" "1176" "0" "1176" "0" "c.1176G>A" "r.(?)" "p.(=)" "" "0001015008" "00010584" "30" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Arg422Cys)" "" "0001015009" "00010584" "50" "1553" "0" "1553" "0" "c.1553A>T" "r.(?)" "p.(Glu518Val)" "" "0001026220" "00010584" "30" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(=)" "" "0001039393" "00010584" "50" "332" "0" "332" "0" "c.332G>C" "r.(?)" "p.(Arg111Pro)" "" "0001039394" "00010584" "50" "1402" "0" "1402" "0" "c.1402C>T" "r.(?)" "p.(Arg468Trp)" "" "0001039395" "00010584" "30" "1717" "-283" "1717" "-283" "c.1717-283T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000002915" "0000021289" "0000002916" "0000021290" "0000002917" "0000021291" "0000039591" "0000067192" "0000039592" "0000067193" "0000133797" "0000223225" "0000155824" "0000356905" "0000220071" "0000454964" "0000229030" "0000470172" "0000231751" "0000473832" "0000246995" "0000499835" "0000265012" "0000595591" "0000276749" "0000630882" "0000291937" "0000648626" "0000291938" "0000648627" "0000291939" "0000648628" "0000325872" "0000709027" "0000328218" "0000712150" "0000333645" "0000731365" "0000399909" "0000832575" "0000411810" "0000869047" "0000433814" "0000919457" "0000445660" "0000953803" "0000445661" "0000953804"