### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF1B) # 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}}" "KIF1B" "kinesin family member 1B" "1" "p36.22" "unknown" "LRG_252" "UD_132119038264" "" "http://www.LOVD.nl/KIF1B" "" "1" "16636" "23095" "605995" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "http://databases.lovd.nl/shared/refseq/KIF1B_codingDNA.html" "1" "" "Please note that for this gene nearly all data are still in the LMDp database.
\r\nThis database is one of the gene variant databases from the:" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2016-11-25 11:08:49" "00006" "2026-05-11 11:29:31" ## 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}}" "00010574" "KIF1B" "transcript variant 1" "001" "NM_015074.3" "" "NP_055889.2" "" "" "" "-252" "10329" "5313" "10270764" "10441661" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01246" "CMT2A1" "Charcot-Marie-Tooth disease, type 2A1 (CMT-2A1)" "AD" "118210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01429" "MDB" "medulloblastoma (MDB)" "AD;AR;SMu" "155255" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-10-31 14:18:45" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "01970" "NBLST1" "neuroblastoma, susceptibility to, type 1 (NBLST-1)" "AD;SMu" "256700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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" "" "" "05202" "neuroblastoma" "neuroblastoma" "" "" "" "" "" "00006" "2016-11-27 12:33:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KIF1B" "01246" "KIF1B" "01970" "KIF1B" "05202" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00088977" "" "" "" "1" "" "00006" "{PMID:Schlisio 2008:18334619}" "" "" "" "" "" "0" "" "" "" "" "00088978" "" "" "" "1" "" "00006" "{PMID:Schlisio 2008:18334619}" "" "" "" "" "" "0" "" "" "" "" "00088979" "" "" "" "4" "" "00006" "{PMID:Zhao 2001:11389829}" "4-generation family, 4 affecteds (2F, 2M)" "F;M" "no" "Japan" "" "0" "" "" "" "" "00088980" "" "" "" "1" "" "00006" "{PMID:Schlisio 2008:18334619}" "" "" "" "" "" "0" "" "" "" "" "00089016" "" "" "" "2" "" "00006" "{PMID:Schlisio 2008:18334619}, {PMID:Yeh 2008:18726616}" "3-generation family, 2 affecteds" "" "" "United States" "" "0" "" "" "" "" "00089017" "" "" "" "1" "" "00006" "{PMID:Schlisio 2008:18334619}" "" "" "" "" "" "0" "" "" "" "" "00089018" "" "" "" "1" "" "00006" "{PMID:Schlisio 2008:18334619}" "" "" "" "" "" "0" "" "" "" "" "00089019" "" "" "" "1" "" "00006" "{PMID:Schlisio 2008:18334619}" "" "" "" "" "" "0" "" "" "" "" "00104025" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-716A" "00289462" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289465" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289466" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289467" "" "" "" "238" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304131" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304133" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00390029" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "16" "00404066" "" "" "" "2" "" "00435" "" "" "M" "" "Egypt" "" "" "" "" "" "" "00473238" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam111771Pat438" "00473326" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam203928Pat572" "00473442" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam211120Pat756" "00478530" "" "" "" "1" "" "00006" "{PMID:Mair 2020:32419263}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat16" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00088977" "05202" "00088978" "05202" "00088979" "00199" "00088980" "05202" "00089016" "01503" "00089017" "00000" "00089018" "00000" "00089019" "01429" "00104025" "03381" "00289462" "00198" "00289465" "00198" "00289466" "00198" "00289467" "00198" "00304131" "00198" "00304133" "00198" "00390029" "04214" "00404066" "05113" "00473238" "05113" "00473326" "04255" "00473442" "05113" "00478530" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00199, 00244, 01246, 01429, 01503, 01970, 03381, 04214, 04255, 05113, 05202 ## Count = 13 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000068381" "05202" "00088977" "00006" "Unknown" "" "Neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000068382" "05202" "00088978" "00006" "Unknown" "" "Neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000068383" "00199" "00088979" "00006" "Familial, autosomal dominant" "" "Charcot-Marie-Tooth disease 2a" "" "" "" "" "" "" "" "" "" "" "" "" "0000068384" "05202" "00088980" "00006" "Unknown" "" "Neuroblastoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000068420" "01503" "00089016" "00006" "Familial" "" "see paper; pheochromocytoma, ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000081959" "03381" "00104025" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000085349" "01429" "00089019" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "0000283569" "04214" "00390029" "00000" "Unknown" "" "Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus" "" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000296658" "05113" "00404066" "00435" "Familial, autosomal dominant" "20y" "20-y male with progressive weakness and wasting of both upper and lower limbs, scliosis and pes cavus. Nerve conduction velocity study was consistent with axonal polyneuropathy" "06y" "" "" "" "" "" "" "" "" "CMT2A1" "Autosomal recessive Hereditary sensorimotor neuropathy" "" "0000358033" "05113" "00473238" "00006" "Unknown" "57y" "Sporadic case, onset 37y , started with muscle pain during sitting, paresthesia in lower limbs, foot drop, pes cavus, distal lower > upper muscle weakness, hammer toes, less proximal muscle weakness, chronic demyelinating(axonal ?) sensorimotor polyneuropathy reported in NCV, normal CPK." "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358121" "04255" "00473326" "00006" "Unknown" "20y" "fasciculation started at age 16y , muscle weakness, wheelchair boundaries, bulbar dysfunction, dysarthria and motor neuron disease reported in EMG/NCV(suspected to ALS)." "" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000358237" "05113" "00473442" "00006" "Unknown" "31y" "Multiple affected members, 31y , started since 13y with distal lower muscle wekness, distal upper muscle weakness, impaired heel walking, pes cavus, foot drop and chronic sensory poly neuropathyreported in EDX." "" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000363045" "00244" "00478530" "00006" "Unknown" "56y" "see paper; ..., no weakness facial muscles; no weakness neck muscles; no weakness trunk muscles; no weakness proximal upper limb muscles; weakness left distal upper limb muscles; no weakness proximal lower limb muscles; weakness distal lower limb muscles; creatine kinase level (max. 67U/L); marked pes cavus, chloroquine therapy for systemic lupus erythematosus" "7y" "" "" "" "" "" "" "" "" "" "vacuolar myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000089122" "00088977" "1" "00006" "00006" "2012-11-05 16:21:56" "" "" "SEQ" "DNA" "" "" "0000089123" "00088978" "1" "00006" "00006" "2012-11-05 16:21:56" "" "" "SEQ" "DNA" "" "" "0000089124" "00088979" "1" "00006" "00006" "2012-11-05 16:21:56" "00006" "2016-11-27 13:42:56" "SEQ;SSCA" "DNA" "" "" "0000089125" "00088980" "1" "00006" "00006" "2012-11-05 16:21:56" "" "" "SEQ" "DNA" "" "" "0000089161" "00089016" "1" "00006" "00006" "2016-11-27 14:06:23" "" "" "SEQ" "DNA" "" "" "0000089162" "00089017" "1" "00006" "00006" "2016-11-27 14:11:16" "" "" "SEQ" "DNA" "" "" "0000089163" "00089018" "1" "00006" "00006" "2016-11-27 14:13:28" "" "" "SEQ" "DNA" "" "" "0000089164" "00089019" "1" "00006" "00006" "2016-11-27 14:17:26" "" "" "SEQ" "DNA" "" "" "0000104496" "00104025" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000290630" "00289462" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290633" "00289465" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290634" "00289466" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290635" "00289467" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305260" "00304131" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305262" "00304133" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000391270" "00390029" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000405302" "00404066" "1" "00435" "00435" "2022-02-25 20:50:23" "" "" "SEQ" "DNA" "blood" "" "0000474907" "00473238" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474995" "00473326" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475111" "00473442" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000480177" "00478530" "1" "00006" "00006" "2026-05-11 11:29:23" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000089122" "KIF1B" "0000089123" "KIF1B" "0000089124" "KIF1B" "0000089125" "KIF1B" "0000089161" "KIF1B" "0000089162" "KIF1B" "0000089163" "KIF1B" "0000089164" "KIF1B" "0000391270" "NMNAT1" "0000405302" "KIF1B" ## 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 = 188 "{{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}}" "0000147026" "0" "90" "1" "10357264" "10357264" "subst" "0" "00006" "KIF1B_000004" "g.10357264A>T" "1/111 cases" "{PMID:Schlisio 2008:18334619}, {OMIM605995:0002}" "" "" "not in 270 controls" "Germline" "" "" "0" "" "" "g.10297206A>T" "" "pathogenic" "" "0000147027" "0" "90" "1" "10384896" "10384896" "subst" "0.000617234" "00006" "KIF1B_000005" "g.10384896C>T" "1/111 cases" "{PMID:Schlisio 2008:18334619}, {OMIM605995:0003}" "" "T827I" "not in 270 controls" "Germline" "" "rs121908162" "0" "" "" "g.10324838C>T" "" "pathogenic" "" "0000147028" "1" "90" "1" "10318660" "10318660" "subst" "0" "00006" "KIF1B_000006" "g.10318660A>T" "" "{PMID:Zhao 2001:11389829}, {OMIM605995:0001}" "" "" "not in 95 controls, 8 unaffecteds" "Germline" "yes" "rs121908160" "0" "" "" "g.10258602A>T" "" "pathogenic" "" "0000147029" "0" "90" "1" "10406001" "10406001" "subst" "0.000182954" "00006" "KIF1B_000007" "g.10406001C>T" "1/111 cases" "{PMID:Schlisio 2008:18334619}, {OMIM605995:0004}" "" "P1217S" "not in 270 controls" "Germline" "" "rs121908163" "0" "" "" "g.10345943C>T" "" "pathogenic" "" "0000147072" "0" "90" "1" "10425534" "10425534" "subst" "4.06144E-6" "00006" "KIF1B_000008" "g.10425534G>A" "1/52 cases" "{PMID:Schlisio 2008:18334619}, {OMIM605995:0005}" "" "S1481N" "not in 270 controls" "Germline" "" "rs121908164" "0" "" "" "g.10365476G>A" "" "pathogenic" "" "0000147073" "0" "10" "1" "10397567" "10397567" "subst" "0.03277" "00006" "KIF1B_000009" "g.10397567A>G" "" "{PMID:Schlisio 2008:18334619}" "" "Y1087C" "" "Germline" "" "" "0" "" "" "g.10337509A>G" "" "benign" "" "0000147074" "0" "10" "1" "10428570" "10428570" "subst" "0.00999001" "00006" "KIF1B_000001" "g.10428570G>A" "" "{PMID:Schlisio 2008:18334619}" "" "V1554M" "" "Germline" "" "" "0" "" "" "g.10368512G>A" "" "benign" "" "0000147075" "0" "50" "1" "10292487" "10292487" "subst" "0" "00006" "KIF1B_000002" "g.10292487C>T" "" "{PMID:Schlisio 2008:18334619}" "" "S34L" "" "Unknown" "" "" "0" "" "" "g.10232429C>T" "" "VUS" "" "0000169380" "0" "70" "1" "10425476" "10425476" "subst" "0" "00587" "KIF1B_000010" "g.10425476A>C" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_015074.3(KIF1B):c.4384A>C p.(Thr1462Pro)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.10365418A>C" "" "likely pathogenic" "" "0000245416" "0" "10" "1" "10397567" "10397567" "subst" "0.03277" "02330" "KIF1B_000009" "g.10397567A>G" "" "" "" "KIF1B(NM_001365951.3):c.3398A>G (p.Y1133C), KIF1B(NM_015074.3):c.3260A>G (p.Y1087C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10337509A>G" "" "benign" "" "0000245419" "0" "10" "1" "10364260" "10364260" "subst" "0.00579769" "02330" "KIF1B_000031" "g.10364260A>G" "" "" "" "KIF1B(NM_183416.4):c.3017A>G (p.E1006G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10304202A>G" "" "benign" "" "0000245435" "0" "10" "1" "10364057" "10364057" "subst" "0.0186043" "02330" "KIF1B_000030" "g.10364057A>G" "" "" "" "KIF1B(NM_183416.4):c.2814A>G (p.T938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303999A>G" "" "benign" "" "0000245436" "0" "10" "1" "10421878" "10421878" "subst" "0.112034" "02330" "KIF1B_000040" "g.10421878A>G" "" "" "" "KIF1B(NM_015074.3):c.4161A>G (p.P1387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361820A>G" "" "benign" "" "0000245477" "0" "10" "1" "10318736" "10318736" "subst" "0.0049242" "02330" "KIF1B_000012" "g.10318736A>C" "" "" "" "KIF1B(NM_015074.3):c.363+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10258678A>C" "" "benign" "" "0000245487" "0" "10" "1" "10399812" "10399812" "del" "0.0288463" "02330" "KIF1B_000037" "g.10399812del" "" "" "" "KIF1B(NM_015074.3):c.3285-15delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10339754del" "" "benign" "" "0000250972" "0" "10" "1" "10397567" "10397567" "subst" "0.03277" "02326" "KIF1B_000009" "g.10397567A>G" "" "" "" "KIF1B(NM_001365951.3):c.3398A>G (p.Y1133C), KIF1B(NM_015074.3):c.3260A>G (p.Y1087C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10337509A>G" "" "benign" "" "0000251752" "0" "30" "1" "10364260" "10364260" "subst" "0.00579769" "02326" "KIF1B_000031" "g.10364260A>G" "" "" "" "KIF1B(NM_183416.4):c.3017A>G (p.E1006G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10304202A>G" "" "likely benign" "" "0000251998" "0" "30" "1" "10397270" "10397270" "subst" "0.00136462" "02326" "KIF1B_000036" "g.10397270A>G" "" "" "" "KIF1B(NM_001365951.1):c.3259+9A>G, KIF1B(NM_001365951.3):c.3259+9A>G, KIF1B(NM_015074.3):c.3121+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10337212A>G" "" "likely benign" "" "0000251999" "0" "30" "1" "10399812" "10399812" "subst" "0" "02326" "KIF1B_000038" "g.10399812A>T" "" "" "" "KIF1B(NM_015074.3):c.3285-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10339754A>T" "" "likely benign" "" "0000256525" "0" "50" "1" "10386362" "10386362" "subst" "8.12916E-5" "01943" "KIF1B_000035" "g.10386362A>G" "" "" "" "KIF1B(NM_015074.3):c.2731A>G (p.S911G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10326304A>G" "" "VUS" "" "0000278566" "0" "10" "1" "10338204" "10338204" "subst" "0.0327138" "02330" "KIF1B_000017" "g.10338204C>T" "" "" "" "KIF1B(NM_015074.3):c.1162+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10278146C>T" "" "benign" "" "0000278567" "0" "10" "1" "10342352" "10342352" "subst" "0" "02330" "KIF1B_000019" "g.10342352C>T" "" "" "" "KIF1B(NM_015074.3):c.1163-106C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10282294C>T" "" "benign" "" "0000278568" "0" "10" "1" "10342522" "10342522" "subst" "0.0330258" "02330" "KIF1B_000020" "g.10342522G>A" "" "" "" "KIF1B(NM_015074.3):c.1227G>A (p.T409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10282464G>A" "" "benign" "" "0000278569" "0" "10" "1" "10342629" "10342629" "subst" "0.644213" "02330" "KIF1B_000021" "g.10342629G>A" "" "" "" "KIF1B(NM_015074.3):c.1296+38G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10282571G>A" "" "benign" "" "0000278570" "0" "10" "1" "10355763" "10355763" "subst" "0.00018296" "02330" "KIF1B_000022" "g.10355763C>T" "" "" "" "KIF1B(NM_015074.3):c.1578C>T (p.S526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10295705C>T" "" "benign" "" "0000278571" "0" "10" "1" "10355834" "10355834" "subst" "0.284149" "02330" "KIF1B_000024" "g.10355834C>T" "" "" "" "KIF1B(NM_015074.3):c.1639+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10295776C>T" "" "benign" "" "0000278572" "0" "10" "1" "10318545" "10318546" "del" "0" "02330" "KIF1B_000011" "g.10318545_10318546del" "" "" "" "KIF1B(NM_015074.3):c.184-6_184-5delTT, KIF1B(NM_015074.3):c.184-7_184-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10258487_10258488del" "" "benign" "" "0000278573" "0" "10" "1" "10357223" "10357223" "del" "0" "02330" "KIF1B_000025" "g.10357223del" "" "" "" "KIF1B(NM_015074.3):c.1905-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10297165del" "" "benign" "" "0000278574" "0" "10" "1" "10363223" "10363223" "subst" "0.00123906" "02330" "KIF1B_000026" "g.10363223C>T" "" "" "" "KIF1B(NM_183416.4):c.1980C>T (p.D660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303165C>T" "" "benign" "" "0000278575" "0" "50" "1" "10363224" "10363224" "subst" "7.76499E-5" "02330" "KIF1B_000027" "g.10363224G>A" "" "" "" "KIF1B(NM_183416.4):c.1981G>A (p.A661T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303166G>A" "" "VUS" "" "0000278576" "0" "10" "1" "10381802" "10381802" "subst" "0.00294091" "02330" "KIF1B_000033" "g.10381802T>C" "" "" "" "KIF1B(NM_015074.3):c.2107T>C (p.W703R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10321744T>C" "" "benign" "" "0000278577" "0" "10" "1" "10363487" "10363487" "subst" "0.00347559" "02330" "KIF1B_000028" "g.10363487T>C" "" "" "" "KIF1B(NM_001365953.1):c.2244T>C (p.A748=), KIF1B(NM_183416.4):c.2244T>C (p.A748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303429T>C" "" "benign" "" "0000278578" "0" "10" "1" "10363664" "10363664" "subst" "0.0186024" "02330" "KIF1B_000029" "g.10363664G>T" "" "" "" "KIF1B(NM_183416.3):c.2421G>T (p.(Met807Ile)), KIF1B(NM_183416.4):c.2421G>T (p.M807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303606G>T" "" "benign" "" "0000278579" "0" "30" "1" "10386166" "10386166" "subst" "4.06111E-6" "02330" "KIF1B_000034" "g.10386166T>C" "" "" "" "KIF1B(NM_015074.3):c.2538-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10326108T>C" "" "likely benign" "" "0000278580" "0" "50" "1" "10421790" "10421790" "subst" "0.000199072" "02330" "KIF1B_000039" "g.10421790T>C" "" "" "" "KIF1B(NM_015074.3):c.4073T>C (p.V1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361732T>C" "" "VUS" "" "0000278582" "0" "10" "1" "10428570" "10428570" "subst" "0.00999001" "02330" "KIF1B_000001" "g.10428570G>A" "" "" "" "KIF1B(NM_015074.3):c.4660G>A (p.V1554M, p.(Val1554Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10368512G>A" "" "benign" "" "0000278583" "0" "30" "1" "10431329" "10431329" "subst" "0" "02330" "KIF1B_000042" "g.10431329C>G" "" "" "" "KIF1B(NM_015074.3):c.4808+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10371271C>G" "" "likely benign" "" "0000278584" "0" "10" "1" "10431329" "10431329" "subst" "0.0334999" "02330" "KIF1B_000043" "g.10431329C>T" "" "" "" "KIF1B(NM_015074.3):c.4808+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10371271C>T" "" "benign" "" "0000278585" "0" "10" "1" "10435324" "10435324" "subst" "0.279394" "02330" "KIF1B_000044" "g.10435324C>A" "" "" "" "KIF1B(NM_015074.3):c.5163C>A (p.T1721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10375266C>A" "" "benign" "" "0000278586" "0" "30" "1" "10436626" "10436626" "subst" "0.002996" "02330" "KIF1B_000046" "g.10436626C>T" "" "" "" "KIF1B(NM_015074.3):c.5294C>T (p.P1765L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10376568C>T" "" "likely benign" "" "0000278588" "0" "10" "1" "10328338" "10328338" "subst" "0.281491" "02330" "KIF1B_000015" "g.10328338C>T" "" "" "" "KIF1B(NM_015074.3):c.720+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10268280C>T" "" "benign" "" "0000278589" "0" "10" "1" "10335315" "10335315" "subst" "0" "02330" "KIF1B_000016" "g.10335315G>A" "" "" "" "KIF1B(NM_015074.3):c.865-171G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10275257G>A" "" "benign" "" "0000281793" "0" "10" "1" "10339212" "10339213" "del" "0" "02325" "KIF1B_000018" "g.10339212_10339213del" "" "" "" "KIF1B(NM_015074.3):c.1162+1026_1162+1027delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10279154_10279155del" "" "benign" "" "0000281794" "0" "10" "1" "10355834" "10355834" "subst" "0.284149" "02325" "KIF1B_000024" "g.10355834C>T" "" "" "" "KIF1B(NM_015074.3):c.1639+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10295776C>T" "" "benign" "" "0000281795" "0" "10" "1" "10435324" "10435324" "subst" "0.279394" "02325" "KIF1B_000044" "g.10435324C>A" "" "" "" "KIF1B(NM_015074.3):c.5163C>A (p.T1721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10375266C>A" "" "benign" "" "0000281796" "0" "10" "1" "10328338" "10328338" "subst" "0.281491" "02325" "KIF1B_000015" "g.10328338C>T" "" "" "" "KIF1B(NM_015074.3):c.720+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10268280C>T" "" "benign" "" "0000285807" "0" "30" "1" "10355816" "10355816" "subst" "5.69295E-5" "02326" "KIF1B_000023" "g.10355816G>A" "" "" "" "KIF1B(NM_001365951.3):c.1769G>A (p.S590N), KIF1B(NM_015074.3):c.1631G>A (p.S544N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10295758G>A" "" "likely benign" "" "0000285808" "0" "10" "1" "10318545" "10318546" "del" "0" "02326" "KIF1B_000011" "g.10318545_10318546del" "" "" "" "KIF1B(NM_015074.3):c.184-6_184-5delTT, KIF1B(NM_015074.3):c.184-7_184-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10258487_10258488del" "" "benign" "" "0000285809" "0" "30" "1" "10363664" "10363664" "subst" "0.0186024" "02326" "KIF1B_000029" "g.10363664G>T" "" "" "" "KIF1B(NM_183416.3):c.2421G>T (p.(Met807Ile)), KIF1B(NM_183416.4):c.2421G>T (p.M807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303606G>T" "" "likely benign" "" "0000285810" "0" "10" "1" "10428570" "10428570" "subst" "0.00999001" "02326" "KIF1B_000001" "g.10428570G>A" "" "" "" "KIF1B(NM_015074.3):c.4660G>A (p.V1554M, p.(Val1554Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10368512G>A" "" "benign" "" "0000285811" "0" "10" "1" "10431329" "10431329" "subst" "0.0334999" "02326" "KIF1B_000043" "g.10431329C>T" "" "" "" "KIF1B(NM_015074.3):c.4808+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10371271C>T" "" "benign" "" "0000290295" "0" "30" "1" "10435351" "10435351" "subst" "0" "01943" "KIF1B_000045" "g.10435351G>T" "" "" "" "KIF1B(NM_015074.3):c.5190G>T (p.G1730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10375293G>T" "" "likely benign" "" "0000320524" "0" "50" "1" "10318545" "10318546" "del" "0" "01804" "KIF1B_000011" "g.10318545_10318546del" "" "" "" "KIF1B(NM_015074.3):c.184-6_184-5delTT, KIF1B(NM_015074.3):c.184-7_184-6del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10258487_10258488del" "" "VUS" "" "0000320525" "0" "50" "1" "10327624" "10327624" "dup" "0" "01804" "KIF1B_000014" "g.10327624dup" "" "" "" "KIF1B(NM_015074.3):c.608+7_608+8insA (p.(=)), KIF1B(NM_015074.3):c.608+8dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10267566dup" "" "VUS" "" "0000320526" "0" "30" "1" "10363664" "10363664" "subst" "0.0186024" "01804" "KIF1B_000029" "g.10363664G>T" "" "" "" "KIF1B(NM_183416.3):c.2421G>T (p.(Met807Ile)), KIF1B(NM_183416.4):c.2421G>T (p.M807I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303606G>T" "" "likely benign" "" "0000336939" "0" "10" "1" "10355834" "10355834" "subst" "0.284149" "02327" "KIF1B_000024" "g.10355834C>T" "" "" "" "KIF1B(NM_015074.3):c.1639+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10295776C>T" "" "benign" "" "0000341622" "0" "50" "1" "10386332" "10386332" "subst" "2.03107E-5" "02327" "KIF1B_000051" "g.10386332G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10326274G>T" "" "VUS" "" "0000346857" "0" "50" "1" "10364677" "10364677" "subst" "0" "02327" "KIF1B_000050" "g.10364677T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10304619T>C" "" "VUS" "" "0000347277" "0" "50" "1" "10363281" "10363281" "subst" "0" "02327" "KIF1B_000049" "g.10363281C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10303223C>G" "" "VUS" "" "0000347650" "0" "50" "1" "10292406" "10292406" "subst" "8.12896E-6" "02327" "KIF1B_000047" "g.10292406A>T" "" "" "" "KIF1B(NM_001365951.1):c.20A>T (p.K7M), KIF1B(NM_001365951.3):c.20A>T (p.K7M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10232348A>T" "" "VUS" "" "0000350281" "0" "50" "1" "10421790" "10421790" "subst" "0.000199072" "02327" "KIF1B_000039" "g.10421790T>C" "" "" "" "KIF1B(NM_015074.3):c.4073T>C (p.V1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361732T>C" "" "VUS" "" "0000502226" "0" "10" "1" "10318652" "10318652" "subst" "0.276457" "02330" "KIF1B_000052" "g.10318652C>G" "" "" "" "KIF1B(NM_015074.3):c.285C>G (p.A95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10258594C>G" "" "benign" "" "0000502227" "0" "10" "1" "10318652" "10318652" "subst" "0.276457" "02325" "KIF1B_000052" "g.10318652C>G" "" "" "" "KIF1B(NM_015074.3):c.285C>G (p.A95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10258594C>G" "" "benign" "" "0000502228" "0" "10" "1" "10319049" "10319049" "subst" "0" "02330" "KIF1B_000053" "g.10319049G>A" "" "" "" "KIF1B(NM_015074.3):c.363+319G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10258991G>A" "" "benign" "" "0000502229" "0" "10" "1" "10327624" "10327624" "dup" "0" "02330" "KIF1B_000014" "g.10327624dup" "" "" "" "KIF1B(NM_015074.3):c.608+7_608+8insA (p.(=)), KIF1B(NM_015074.3):c.608+8dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10267566dup" "" "benign" "" "0000502230" "0" "10" "1" "10327624" "10327624" "dup" "0" "02326" "KIF1B_000014" "g.10327624dup" "" "" "" "KIF1B(NM_015074.3):c.608+7_608+8insA (p.(=)), KIF1B(NM_015074.3):c.608+8dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10267566dup" "" "benign" "" "0000502231" "0" "50" "1" "10331621" "10331621" "subst" "1.21844E-5" "02330" "KIF1B_000054" "g.10331621A>G" "" "" "" "KIF1B(NM_015074.3):c.782A>G (p.K261R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10271563A>G" "" "VUS" "" "0000502249" "0" "50" "1" "10335561" "10335561" "subst" "0" "02327" "KIF1B_000055" "g.10335561G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10275503G>A" "" "VUS" "" "0000502273" "0" "30" "1" "10342600" "10342600" "subst" "0.000105835" "01943" "KIF1B_000056" "g.10342600T>C" "" "" "" "KIF1B(NM_015074.3):c.1296+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10282542T>C" "" "likely benign" "" "0000502326" "0" "50" "1" "10355147" "10355147" "subst" "0.000109704" "01943" "KIF1B_000057" "g.10355147C>G" "" "" "" "KIF1B(NM_001365951.3):c.1594C>G (p.P532A), KIF1B(NM_015074.3):c.1456C>G (p.P486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10295089C>G" "" "VUS" "" "0000502327" "0" "30" "1" "10355147" "10355147" "subst" "0.000109704" "02326" "KIF1B_000057" "g.10355147C>G" "" "" "" "KIF1B(NM_001365951.3):c.1594C>G (p.P532A), KIF1B(NM_015074.3):c.1456C>G (p.P486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10295089C>G" "" "likely benign" "" "0000502328" "0" "50" "1" "10355818" "10355818" "subst" "0.000573446" "01943" "KIF1B_000048" "g.10355818G>A" "" "" "" "KIF1B(NM_001365951.3):c.1771G>A (p.G591R), KIF1B(NM_015074.3):c.1633G>A (p.G545R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10295760G>A" "" "VUS" "" "0000502329" "0" "50" "1" "10356656" "10356656" "subst" "8.12678E-6" "02327" "KIF1B_000058" "g.10356656G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10296598G>T" "" "VUS" "" "0000502334" "0" "30" "1" "10363226" "10363226" "subst" "8.58067E-5" "01943" "KIF1B_000061" "g.10363226G>A" "" "" "" "KIF1B(NM_183416.3):c.1983G>A (p.A661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303168G>A" "" "likely benign" "" "0000502335" "0" "30" "1" "10363487" "10363487" "subst" "0.00347559" "02326" "KIF1B_000028" "g.10363487T>C" "" "" "" "KIF1B(NM_001365953.1):c.2244T>C (p.A748=), KIF1B(NM_183416.4):c.2244T>C (p.A748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303429T>C" "" "likely benign" "" "0000502336" "0" "50" "1" "10363570" "10363570" "subst" "0" "02330" "KIF1B_000062" "g.10363570A>C" "" "" "" "KIF1B(NM_183416.4):c.2327A>C (p.K776T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303512A>C" "" "VUS" "" "0000502337" "0" "50" "1" "10363617" "10363617" "subst" "0.000281011" "02330" "KIF1B_000063" "g.10363617G>A" "" "" "" "KIF1B(NM_183416.4):c.2374G>A (p.V792I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303559G>A" "" "VUS" "" "0000502338" "0" "50" "1" "10363753" "10363753" "subst" "8.14863E-6" "02330" "KIF1B_000064" "g.10363753A>G" "" "" "" "KIF1B(NM_183416.4):c.2510A>G (p.N837S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303695A>G" "" "VUS" "" "0000502339" "0" "30" "1" "10363885" "10363885" "subst" "0.000788939" "01943" "KIF1B_000065" "g.10363885G>A" "" "" "" "KIF1B(NM_183416.3):c.2642G>A (p.G881D), KIF1B(NM_183416.4):c.2642G>A (p.G881D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303827G>A" "" "likely benign" "" "0000502340" "0" "30" "1" "10364139" "10364139" "subst" "0.000171085" "01804" "KIF1B_000066" "g.10364139C>T" "" "" "" "KIF1B(NM_001365953.1):c.2896C>T (p.(Pro966Ser)), KIF1B(NM_183416.4):c.2896C>T (p.P966S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10304081C>T" "" "likely benign" "" "0000502341" "0" "30" "1" "10364335" "10364335" "subst" "0.00307467" "02326" "KIF1B_000067" "g.10364335T>C" "" "" "" "KIF1B(NM_183416.4):c.3092T>C (p.I1031T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10304277T>C" "" "likely benign" "" "0000502342" "0" "50" "1" "10364385" "10364385" "subst" "0.000280679" "02327" "KIF1B_000068" "g.10364385C>T" "" "" "" "KIF1B(NM_183416.4):c.3142C>T (p.R1048C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10304327C>T" "" "VUS" "" "0000502343" "0" "50" "1" "10381812" "10381812" "subst" "2.84354E-5" "02330" "KIF1B_000069" "g.10381812G>A" "" "" "" "KIF1B(NM_015074.3):c.2117G>A (p.R706Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10321754G>A" "" "VUS" "" "0000502344" "0" "30" "1" "10384896" "10384896" "subst" "0.000617234" "02330" "KIF1B_000005" "g.10384896C>T" "" "" "" "KIF1B(NM_015074.3):c.2480C>T (p.T827I, p.(Thr827Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10324838C>T" "" "likely benign" "" "0000502345" "0" "50" "1" "10384896" "10384896" "subst" "0.000617234" "01804" "KIF1B_000005" "g.10384896C>T" "" "" "" "KIF1B(NM_015074.3):c.2480C>T (p.T827I, p.(Thr827Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10324838C>T" "" "VUS" "" "0000502346" "0" "30" "1" "10397270" "10397270" "subst" "0.00136462" "02330" "KIF1B_000036" "g.10397270A>G" "" "" "" "KIF1B(NM_001365951.1):c.3259+9A>G, KIF1B(NM_001365951.3):c.3259+9A>G, KIF1B(NM_015074.3):c.3121+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10337212A>G" "" "likely benign" "" "0000502347" "0" "30" "1" "10397270" "10397270" "subst" "0.00136462" "01943" "KIF1B_000036" "g.10397270A>G" "" "" "" "KIF1B(NM_001365951.1):c.3259+9A>G, KIF1B(NM_001365951.3):c.3259+9A>G, KIF1B(NM_015074.3):c.3121+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10337212A>G" "" "likely benign" "" "0000502349" "0" "10" "1" "10403302" "10403302" "subst" "0.00112541" "02330" "KIF1B_000070" "g.10403302G>A" "" "" "" "KIF1B(NM_015074.3):c.3507G>A (p.P1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10343244G>A" "" "benign" "" "0000502350" "0" "10" "1" "10407891" "10407891" "subst" "0.00201102" "02330" "KIF1B_000071" "g.10407891A>C" "" "" "" "KIF1B(NM_015074.3):c.3726+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10347833A>C" "" "benign" "" "0000502357" "0" "10" "1" "10421017" "10421017" "subst" "0.00257052" "02330" "KIF1B_000072" "g.10421017T>C" "" "" "" "KIF1B(NM_015074.3):c.3948T>C (p.D1316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10360959T>C" "" "benign" "" "0000502358" "0" "30" "1" "10421089" "10421089" "subst" "0.000978736" "02326" "KIF1B_000073" "g.10421089G>A" "" "" "" "KIF1B(NM_001365951.3):c.4158G>A (p.S1386=), KIF1B(NM_015074.3):c.4020G>A (p.S1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10361031G>A" "" "likely benign" "" "0000502359" "0" "50" "1" "10421790" "10421790" "subst" "0.000199072" "01943" "KIF1B_000039" "g.10421790T>C" "" "" "" "KIF1B(NM_015074.3):c.4073T>C (p.V1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10361732T>C" "" "VUS" "" "0000502361" "0" "10" "1" "10425550" "10425550" "subst" "0.00171778" "02330" "KIF1B_000075" "g.10425550C>T" "" "" "" "KIF1B(NM_015074.3):c.4458C>T (p.P1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365492C>T" "" "benign" "" "0000502362" "0" "30" "1" "10425550" "10425550" "subst" "0.00171778" "01943" "KIF1B_000075" "g.10425550C>T" "" "" "" "KIF1B(NM_015074.3):c.4458C>T (p.P1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365492C>T" "" "likely benign" "" "0000502363" "0" "30" "1" "10428570" "10428570" "subst" "0.00999001" "01804" "KIF1B_000001" "g.10428570G>A" "" "" "" "KIF1B(NM_015074.3):c.4660G>A (p.V1554M, p.(Val1554Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10368512G>A" "" "likely benign" "" "0000502364" "0" "50" "1" "10428592" "10428592" "subst" "8.1217E-5" "01804" "KIF1B_000076" "g.10428592G>A" "" "" "" "KIF1B(NM_015074.3):c.4682G>A (p.(Cys1561Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10368534G>A" "" "VUS" "" "0000502365" "0" "50" "1" "10434465" "10434465" "subst" "4.06124E-6" "02327" "KIF1B_000077" "g.10434465C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10374407C>T" "" "VUS" "" "0000502366" "0" "10" "1" "10435065" "10435065" "subst" "0.00456011" "02330" "KIF1B_000078" "g.10435065A>G" "" "" "" "KIF1B(NM_015074.3):c.5112A>G (p.A1704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10375007A>G" "" "benign" "" "0000502367" "0" "10" "1" "10436647" "10436647" "subst" "0.00310324" "02330" "KIF1B_000079" "g.10436647T>C" "" "" "" "KIF1B(NM_015074.3):c.*2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10376589T>C" "" "benign" "" "0000604608" "0" "50" "1" "10318582" "10318582" "subst" "2.84294E-5" "02330" "KIF1B_000080" "g.10318582G>A" "" "" "" "KIF1B(NM_015074.3):c.215G>A (p.R72H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10258524G>A" "" "VUS" "" "0000604611" "0" "30" "1" "10335487" "10335487" "subst" "0" "01943" "KIF1B_000081" "g.10335487G>A" "" "" "" "KIF1B(NM_001365951.1):c.884G>A (p.S295N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10275429G>A" "" "likely benign" "" "0000604621" "0" "30" "1" "10363262" "10363262" "subst" "0.000540224" "02330" "KIF1B_000082" "g.10363262G>A" "" "" "" "KIF1B(NM_183416.3):c.2019G>A (p.S673=), KIF1B(NM_183416.4):c.2019G>A (p.S673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303204G>A" "" "likely benign" "" "0000604622" "0" "10" "1" "10363511" "10363511" "subst" "0.00609622" "02330" "KIF1B_000083" "g.10363511G>A" "" "" "" "KIF1B(NM_183416.4):c.2268G>A (p.R756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303453G>A" "" "benign" "" "0000604623" "0" "30" "1" "10381887" "10381887" "subst" "0.00473645" "01804" "KIF1B_000085" "g.10381887A>G" "" "" "" "KIF1B(NM_001365951.3):c.2330A>G (p.N777S), KIF1B(NM_015074.3):c.2192A>G (p.(Asn731Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10321829A>G" "" "likely benign" "" "0000604624" "0" "50" "1" "10386320" "10386320" "subst" "0.000207137" "02330" "KIF1B_000086" "g.10386320G>A" "" "" "" "KIF1B(NM_015074.3):c.2689G>A (p.A897T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10326262G>A" "" "VUS" "" "0000604625" "0" "10" "1" "10386367" "10386367" "subst" "0.0015534" "02326" "KIF1B_000087" "g.10386367C>T" "" "" "" "KIF1B(NM_001365951.3):c.2874C>T (p.D958=), KIF1B(NM_015074.3):c.2736C>T (p.D912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10326309C>T" "" "benign" "" "0000604626" "0" "30" "1" "10403302" "10403302" "subst" "0.00112541" "02326" "KIF1B_000070" "g.10403302G>A" "" "" "" "KIF1B(NM_015074.3):c.3507G>A (p.P1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10343244G>A" "" "likely benign" "" "0000604627" "0" "30" "1" "10425550" "10425550" "subst" "0.00171778" "02326" "KIF1B_000075" "g.10425550C>T" "" "" "" "KIF1B(NM_015074.3):c.4458C>T (p.P1486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365492C>T" "" "likely benign" "" "0000604628" "0" "30" "1" "10428581" "10428581" "subst" "3.65488E-5" "02330" "KIF1B_000089" "g.10428581C>T" "" "" "" "KIF1B(NM_015074.3):c.4671C>T (p.S1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10368523C>T" "" "likely benign" "" "0000620320" "0" "30" "1" "10363262" "10363262" "subst" "0.000540224" "01943" "KIF1B_000082" "g.10363262G>A" "" "" "" "KIF1B(NM_183416.3):c.2019G>A (p.S673=), KIF1B(NM_183416.4):c.2019G>A (p.S673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303204G>A" "" "likely benign" "" "0000620321" "0" "30" "1" "10363885" "10363885" "subst" "0.000788939" "02326" "KIF1B_000065" "g.10363885G>A" "" "" "" "KIF1B(NM_183416.3):c.2642G>A (p.G881D), KIF1B(NM_183416.4):c.2642G>A (p.G881D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10303827G>A" "" "likely benign" "" "0000620322" "0" "30" "1" "10364384" "10364384" "subst" "8.13829E-6" "02330" "KIF1B_000084" "g.10364384A>G" "" "" "" "KIF1B(NM_183416.4):c.3141A>G (p.L1047=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10304326A>G" "" "likely benign" "" "0000620323" "0" "30" "1" "10425318" "10425319" "ins" "2.04017E-5" "02330" "KIF1B_000088" "g.10425318_10425319insT" "" "" "" "KIF1B(NM_001365951.3):c.4512+15_4512+16insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365260_10365261insT" "" "likely benign" "" "0000647319" "1" "50" "1" "10335502" "10335502" "subst" "0.000215735" "03575" "KIF1B_000090" "g.10335502A>G" "5/2693 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous; {DB:CLININrs373698346}" "Germline" "" "rs373698346" "0" "" "" "g.10275444A>G" "" "VUS" "" "0000647322" "1" "10" "1" "10363664" "10363664" "subst" "0.0186024" "03575" "KIF1B_000029" "g.10363664G>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs41274458}" "Germline" "" "rs41274458" "0" "" "" "g.10303606G>T" "" "benign" "" "0000647323" "1" "30" "1" "10381887" "10381887" "subst" "0.00473645" "03575" "KIF1B_000085" "g.10381887A>G" "9/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs117525287}" "Germline" "" "rs117525287" "0" "" "" "g.10321829A>G" "" "likely benign" "" "0000647324" "1" "30" "1" "10397567" "10397567" "subst" "0.03277" "03575" "KIF1B_000009" "g.10397567A>G" "238/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "238 heterozygous; {DB:CLININrs2297881}" "Germline" "" "rs2297881" "0" "" "" "g.10337509A>G" "" "likely benign" "" "0000653564" "0" "50" "1" "10292406" "10292406" "subst" "8.12896E-6" "02330" "KIF1B_000047" "g.10292406A>T" "" "" "" "KIF1B(NM_001365951.1):c.20A>T (p.K7M), KIF1B(NM_001365951.3):c.20A>T (p.K7M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10232348A>T" "" "VUS" "" "0000653565" "0" "30" "1" "10316297" "10316297" "subst" "2.43758E-5" "02330" "KIF1B_000091" "g.10316297T>A" "" "" "" "KIF1B(NM_001365951.1):c.107-8T>A, KIF1B(NM_001365951.3):c.107-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10256239T>A" "" "likely benign" "" "0000653574" "0" "30" "1" "10421089" "10421089" "subst" "0.000978736" "02327" "KIF1B_000073" "g.10421089G>A" "" "" "" "KIF1B(NM_001365951.3):c.4158G>A (p.S1386=), KIF1B(NM_015074.3):c.4020G>A (p.S1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10361031G>A" "" "likely benign" "" "0000653575" "0" "50" "1" "10434466" "10434466" "subst" "4.06121E-6" "02327" "KIF1B_000092" "g.10434466G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10374408G>A" "" "VUS" "" "0000668948" "3" "50" "1" "10335502" "10335502" "subst" "0.000215735" "03575" "KIF1B_000090" "g.10335502A>G" "1/2693 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs373698346}" "Germline" "" "rs373698346" "0" "" "" "g.10275444A>G" "" "VUS" "" "0000668950" "3" "30" "1" "10397567" "10397567" "subst" "0.03277" "03575" "KIF1B_000009" "g.10397567A>G" "10/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 homozygous; {DB:CLININrs2297881}" "Germline" "" "rs2297881" "0" "" "" "g.10337509A>G" "" "likely benign" "" "0000675386" "0" "30" "1" "10363238" "10363238" "subst" "0" "02330" "KIF1B_000093" "g.10363238C>T" "" "" "" "KIF1B(NM_183416.4):c.1995C>T (p.S665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675387" "0" "30" "1" "10408687" "10408687" "subst" "0" "02330" "KIF1B_000094" "g.10408687A>C" "" "" "" "KIF1B(NM_001365951.3):c.3865-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675388" "0" "30" "1" "10435065" "10435065" "subst" "0.00456011" "02326" "KIF1B_000078" "g.10435065A>G" "" "" "" "KIF1B(NM_015074.3):c.5112A>G (p.A1704=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687793" "0" "50" "1" "10292406" "10292406" "subst" "8.12896E-6" "01943" "KIF1B_000047" "g.10292406A>T" "" "" "" "KIF1B(NM_001365951.1):c.20A>T (p.K7M), KIF1B(NM_001365951.3):c.20A>T (p.K7M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687794" "0" "30" "1" "10316297" "10316297" "subst" "2.43758E-5" "01943" "KIF1B_000091" "g.10316297T>A" "" "" "" "KIF1B(NM_001365951.1):c.107-8T>A, KIF1B(NM_001365951.3):c.107-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687797" "0" "10" "1" "10364335" "10364335" "subst" "0.00307467" "02330" "KIF1B_000067" "g.10364335T>C" "" "" "" "KIF1B(NM_183416.4):c.3092T>C (p.I1031T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000716638" "0" "30" "1" "10292290" "10292290" "subst" "0" "02326" "KIF1B_000095" "g.10292290A>T" "" "" "" "KIF1B(NM_015074.3):c.-79-18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716647" "0" "30" "1" "10363487" "10363487" "subst" "0.00347559" "01943" "KIF1B_000028" "g.10363487T>C" "" "" "" "KIF1B(NM_001365953.1):c.2244T>C (p.A748=), KIF1B(NM_183416.4):c.2244T>C (p.A748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716648" "0" "30" "1" "10363617" "10363617" "subst" "0.000281011" "02326" "KIF1B_000063" "g.10363617G>A" "" "" "" "KIF1B(NM_183416.4):c.2374G>A (p.V792I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716649" "0" "30" "1" "10384882" "10384882" "subst" "0.000414213" "02330" "KIF1B_000096" "g.10384882C>T" "" "" "" "KIF1B(NM_001365951.3):c.2604C>T (p.D868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798629" "0" "50" "1" "10333084" "10333084" "subst" "0" "02327" "KIF1B_000097" "g.10333084A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798642" "0" "10" "1" "10386367" "10386367" "subst" "0.0015534" "02330" "KIF1B_000087" "g.10386367C>T" "" "" "" "KIF1B(NM_001365951.3):c.2874C>T (p.D958=), KIF1B(NM_015074.3):c.2736C>T (p.D912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000798643" "0" "50" "1" "10421844" "10421844" "subst" "2.84514E-5" "02327" "KIF1B_000098" "g.10421844G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821006" "0" "90" "1" "9200001" "12700000" "del" "0" "00000" "MTHFR_000084" "g.9200001_12700000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array deletion in Cr1p36.22 involving NMNAT1 gene," "am apparent homozygous NMNAT1 mutation was found, probably on the other allele" "Unknown" "?" "" "0" "" "" "g.9100001_12500000del" "" "likely pathogenic" "" "0000841380" "21" "90" "1" "10435075" "10435075" "subst" "0" "00435" "KIF1B_000099" "g.10435075T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (dominant)" "" "0000848199" "0" "30" "1" "10327429" "10327429" "del" "0" "02330" "KIF1B_000100" "g.10327429del" "" "" "" "KIF1B(NM_001365951.3):c.430-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848212" "0" "50" "1" "10355816" "10355816" "subst" "5.69295E-5" "02330" "KIF1B_000023" "g.10355816G>A" "" "" "" "KIF1B(NM_001365951.3):c.1769G>A (p.S590N), KIF1B(NM_015074.3):c.1631G>A (p.S544N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848213" "0" "30" "1" "10364139" "10364139" "subst" "0.000171085" "02330" "KIF1B_000066" "g.10364139C>T" "" "" "" "KIF1B(NM_001365953.1):c.2896C>T (p.(Pro966Ser)), KIF1B(NM_183416.4):c.2896C>T (p.P966S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848214" "0" "50" "1" "10364221" "10364221" "subst" "1.22036E-5" "02330" "KIF1B_000101" "g.10364221A>G" "" "" "" "KIF1B(NM_183416.4):c.2978A>G (p.D993G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848215" "0" "10" "1" "10381887" "10381887" "subst" "0.00473645" "02326" "KIF1B_000085" "g.10381887A>G" "" "" "" "KIF1B(NM_001365951.3):c.2330A>G (p.N777S), KIF1B(NM_015074.3):c.2192A>G (p.(Asn731Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848216" "0" "30" "1" "10384871" "10384871" "subst" "0.000385793" "01943" "KIF1B_000102" "g.10384871A>C" "" "" "" "KIF1B(NM_001365951.1):c.2593A>C (p.S865R), KIF1B(NM_001365951.3):c.2593A>C (p.S865R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848217" "0" "30" "1" "10434404" "10434404" "subst" "0.000105615" "01943" "KIF1B_000104" "g.10434404T>C" "" "" "" "KIF1B(NM_001365951.1):c.4977T>C (p.S1659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856862" "0" "30" "1" "10355818" "10355818" "subst" "0.000573446" "02326" "KIF1B_000048" "g.10355818G>A" "" "" "" "KIF1B(NM_001365951.3):c.1771G>A (p.G591R), KIF1B(NM_015074.3):c.1633G>A (p.G545R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856863" "0" "30" "1" "10363885" "10363885" "subst" "0.000788939" "02330" "KIF1B_000065" "g.10363885G>A" "" "" "" "KIF1B(NM_183416.3):c.2642G>A (p.G881D), KIF1B(NM_183416.4):c.2642G>A (p.G881D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856864" "0" "50" "1" "10402222" "10402222" "subst" "3.24913E-5" "02330" "KIF1B_000103" "g.10402222A>C" "" "" "" "KIF1B(NM_001365951.3):c.3628A>C (p.N1210H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882645" "0" "30" "1" "10292382" "10292382" "subst" "2.0443E-5" "02330" "KIF1B_000105" "g.10292382T>C" "" "" "" "KIF1B(NM_001365951.3):c.-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882659" "0" "50" "1" "10355147" "10355147" "subst" "0.000109704" "02330" "KIF1B_000057" "g.10355147C>G" "" "" "" "KIF1B(NM_001365951.3):c.1594C>G (p.P532A), KIF1B(NM_015074.3):c.1456C>G (p.P486A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882660" "0" "30" "1" "10364385" "10364385" "subst" "0.000280679" "02326" "KIF1B_000068" "g.10364385C>T" "" "" "" "KIF1B(NM_183416.4):c.3142C>T (p.R1048C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882661" "0" "50" "1" "10364418" "10364418" "subst" "0" "02330" "KIF1B_000106" "g.10364418C>T" "" "" "" "KIF1B(NM_183416.4):c.3175C>T (p.P1059S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882662" "0" "30" "1" "10364532" "10364532" "subst" "9.06723E-5" "02326" "KIF1B_000107" "g.10364532C>T" "" "" "" "KIF1B(NM_183416.4):c.3289C>T (p.R1097C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882663" "0" "30" "1" "10380210" "10380210" "subst" "1.22836E-5" "02330" "KIF1B_000108" "g.10380210C>T" "" "" "" "KIF1B(NM_001365951.3):c.2209+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882664" "0" "50" "1" "10397237" "10397237" "subst" "4.06105E-6" "02327" "KIF1B_000109" "g.10397237G>A" "" "" "" "KIF1B(NM_015074.3):c.3097G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882665" "0" "30" "1" "10403360" "10403360" "subst" "0.000166641" "02330" "KIF1B_000110" "g.10403360C>T" "" "" "" "KIF1B(NM_001365951.3):c.3688+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882667" "0" "10" "1" "10428505" "10428505" "subst" "0.00107335" "02330" "KIF1B_000111" "g.10428505C>A" "" "" "" "KIF1B(NM_001365951.3):c.4753-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000882668" "0" "30" "1" "10431330" "10431330" "subst" "0.000211228" "02330" "KIF1B_000112" "g.10431330C>T" "" "" "" "KIF1B(NM_001365951.3):c.4946+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910731" "0" "50" "1" "10363420" "10363420" "subst" "0" "02330" "KIF1B_000113" "g.10363420A>C" "" "" "" "KIF1B(NM_183416.4):c.2177A>C (p.D726A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922902" "0" "30" "1" "10363223" "10363223" "subst" "0.00123906" "02326" "KIF1B_000026" "g.10363223C>T" "" "" "" "KIF1B(NM_183416.4):c.1980C>T (p.D660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922903" "0" "30" "1" "10363354" "10363354" "subst" "4.06564E-6" "02326" "KIF1B_000114" "g.10363354G>A" "" "" "" "KIF1B(NM_183416.4):c.2111G>A (p.S704N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922904" "0" "50" "1" "10364328" "10364328" "subst" "4.06679E-6" "02330" "KIF1B_000115" "g.10364328G>A" "" "" "" "KIF1B(NM_183416.4):c.3085G>A (p.D1029N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922905" "0" "30" "1" "10384871" "10384871" "subst" "0.000385793" "02326" "KIF1B_000102" "g.10384871A>C" "" "" "" "KIF1B(NM_001365951.1):c.2593A>C (p.S865R), KIF1B(NM_001365951.3):c.2593A>C (p.S865R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927497" "0" "50" "1" "10434911" "10434911" "subst" "0" "03779" "KIF1B_000116" "g.10434911G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000946915" "0" "30" "1" "10316297" "10316297" "subst" "2.43758E-5" "02326" "KIF1B_000091" "g.10316297T>A" "" "" "" "KIF1B(NM_001365951.1):c.107-8T>A, KIF1B(NM_001365951.3):c.107-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946921" "0" "30" "1" "10364139" "10364139" "subst" "0.000171085" "02326" "KIF1B_000066" "g.10364139C>T" "" "" "" "KIF1B(NM_001365953.1):c.2896C>T (p.(Pro966Ser)), KIF1B(NM_183416.4):c.2896C>T (p.P966S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000946922" "0" "10" "1" "10403293" "10403293" "subst" "0.00032106" "02330" "KIF1B_000117" "g.10403293G>A" "" "" "" "KIF1B(NM_001365951.3):c.3636G>A (p.P1212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960357" "0" "30" "1" "10384896" "10384896" "subst" "0.000617234" "02327" "KIF1B_000005" "g.10384896C>T" "" "" "" "KIF1B(NM_015074.3):c.2480C>T (p.T827I, p.(Thr827Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960358" "0" "50" "1" "10397133" "10397133" "subst" "1.21877E-5" "02330" "KIF1B_000118" "g.10397133G>A" "" "" "" "KIF1B(NM_001365951.3):c.3131G>A (p.S1044N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960359" "0" "10" "1" "10421089" "10421089" "subst" "0.000978736" "02330" "KIF1B_000073" "g.10421089G>A" "" "" "" "KIF1B(NM_001365951.3):c.4158G>A (p.S1386=), KIF1B(NM_015074.3):c.4020G>A (p.S1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973152" "0" "50" "1" "10386213" "10386213" "subst" "0" "01804" "KIF1B_000119" "g.10386213G>A" "" "" "" "KIF1B(NM_001365951.3):c.2720G>A (p.(Arg907His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973153" "0" "50" "1" "10394696" "10394696" "subst" "1.21924E-5" "01804" "KIF1B_000120" "g.10394696G>A" "" "" "" "KIF1B(NM_001365951.3):c.3043G>A (p.(Ala1015Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990053" "0" "30" "1" "10316381" "10316381" "subst" "4.06085E-6" "02325" "KIF1B_000121" "g.10316381A>G" "" "" "" "KIF1B(NM_015074.3):c.183A>G (p.S61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990073" "0" "30" "1" "10364480" "10364480" "subst" "0" "01804" "KIF1B_000122" "g.10364480C>A" "" "" "" "KIF1B(NM_183416.3):c.3237C>A (p.(His1079Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990076" "0" "50" "1" "10421075" "10421075" "subst" "0" "02325" "KIF1B_000123" "g.10421075T>G" "" "" "" "KIF1B(NM_015074.3):c.4006T>G (p.Y1336D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013185" "0" "30" "1" "10384849" "10384849" "subst" "0" "02330" "KIF1B_000124" "g.10384849T>C" "" "" "" "KIF1B(NM_001365951.3):c.2571T>C (p.D857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013186" "0" "30" "1" "10386302" "10386302" "subst" "0" "02330" "KIF1B_000125" "g.10386302G>C" "" "" "" "KIF1B(NM_001365951.3):c.2809G>C (p.E937Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024006" "0" "30" "1" "10397576" "10397576" "subst" "7.30959E-5" "02325" "KIF1B_000126" "g.10397576T>C" "" "" "" "KIF1B(NM_015074.3):c.3269T>C (p.I1090T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024007" "0" "30" "1" "10431217" "10431217" "subst" "1.21817E-5" "02330" "KIF1B_000127" "g.10431217A>G" "" "" "" "KIF1B(NM_001365951.3):c.4843A>G (p.I1615V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031011" "0" "10" "1" "10381887" "10381887" "subst" "0.00473645" "02330" "KIF1B_000085" "g.10381887A>G" "" "" "" "KIF1B(NM_001365951.3):c.2330A>G (p.N777S), KIF1B(NM_015074.3):c.2192A>G (p.(Asn731Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001031012" "0" "30" "1" "10383932" "10383932" "subst" "0" "01804" "KIF1B_000128" "g.10383932T>C" "" "" "" "KIF1B(NM_001365951.3):c.2359-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062960" "0" "30" "1" "10384896" "10384896" "subst" "0.000617234" "02325" "KIF1B_000005" "g.10384896C>T" "" "" "" "KIF1B(NM_015074.3):c.2480C>T (p.T827I, p.(Thr827Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062961" "0" "30" "1" "10384956" "10384956" "subst" "4.06081E-5" "02325" "KIF1B_000129" "g.10384956A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062962" "0" "50" "1" "10421790" "10421790" "subst" "0.000199072" "02325" "KIF1B_000039" "g.10421790T>C" "" "" "" "KIF1B(NM_015074.3):c.4073T>C (p.V1358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069305" "0" "50" "1" "10435075" "10435075" "subst" "4.06058E-6" "00006" "KIF1B_000132" "g.10435075T>G" "" "{PMID:Molaei 2025:41315541}" "" "NM_001365951.3:c.5260T>G" "ACMG PM2, PP3, PP2sup" "Germline" "" "" "0" "" "" "g.10375017T>G" "SCV006075005" "VUS" "ACMG" "0001069393" "0" "50" "1" "10384822" "10384822" "subst" "0" "00006" "KIF1B_000131" "g.10384822G>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2_m, PP3" "Germline" "" "" "0" "" "" "g.10324764G>T" "SCV006075004" "VUS" "ACMG" "0001069507" "0" "50" "1" "10383945" "10383945" "subst" "0" "00006" "KIF1B_000130" "g.10383945C>G" "" "{PMID:Molaei 2025:41315541}" "" "NM_001365951.3:c.2362C>G" "ACMG PM2, PP2_sup" "Germline" "" "" "0" "" "" "g.10323887C>G" "SCV006075003" "VUS" "ACMG" "0001076283" "0" "50" "1" "10434991" "10434991" "subst" "2.43635E-5" "00006" "KIF1B_000133" "g.10434991C>T" "" "{PMID:Mair 2020:32419263}" "" "" "" "Germline/De novo (untested)" "" "rs754479325" "0" "" "" "g.10374933C>T" "" "VUS" "" ## 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 KIF1B ## Count = 188 "{{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}}" "0000147026" "00010574" "90" "1937" "0" "1937" "0" "c.1937A>T" "r.(?)" "p.(Glu646Val)" "20" "0000147027" "00010574" "90" "2480" "0" "2480" "0" "c.2480C>T" "r.(?)" "p.(Thr827Ile)" "24" "0000147028" "00010574" "90" "293" "0" "293" "0" "c.293A>T" "r.(?)" "p.(Gln98Leu)" "4" "0000147029" "00010574" "90" "3649" "0" "3649" "0" "c.3649C>T" "r.(?)" "p.(Pro1217Ser)" "33" "0000147072" "00010574" "90" "4442" "0" "4442" "0" "c.4442G>A" "r.(?)" "p.(Ser1481Asn)" "41" "0000147073" "00010574" "10" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Tyr1087Cys)" "29" "0000147074" "00010574" "10" "4660" "0" "4660" "0" "c.4660G>A" "r.(?)" "p.(Val1554Met)" "42" "0000147075" "00010574" "50" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ser34Leu)" "2" "0000169380" "00010574" "00" "4384" "0" "4384" "0" "c.4384A>C" "r.(?)" "p.(Thr1462Pro)" "" "0000245416" "00010574" "10" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Tyr1087Cys)" "" "0000245419" "00010574" "10" "1977" "6956" "1977" "6956" "c.1977+6956A>G" "r.(=)" "p.(=)" "" "0000245435" "00010574" "10" "1977" "6753" "1977" "6753" "c.1977+6753A>G" "r.(=)" "p.(=)" "" "0000245436" "00010574" "10" "4161" "0" "4161" "0" "c.4161A>G" "r.(?)" "p.(Pro1387=)" "" "0000245477" "00010574" "10" "363" "6" "363" "6" "c.363+6A>C" "r.(=)" "p.(=)" "" "0000245487" "00010574" "10" "3285" "-15" "3285" "-15" "c.3285-15del" "r.(=)" "p.(=)" "" "0000250972" "00010574" "10" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Tyr1087Cys)" "" "0000251752" "00010574" "30" "1977" "6956" "1977" "6956" "c.1977+6956A>G" "r.(=)" "p.(=)" "" "0000251998" "00010574" "30" "3121" "9" "3121" "9" "c.3121+9A>G" "r.(=)" "p.(=)" "" "0000251999" "00010574" "30" "3285" "-15" "3285" "-15" "c.3285-15A>T" "r.(=)" "p.(=)" "" "0000256525" "00010574" "50" "2731" "0" "2731" "0" "c.2731A>G" "r.(?)" "p.(Ser911Gly)" "" "0000278566" "00010574" "10" "1162" "18" "1162" "18" "c.1162+18C>T" "r.(=)" "p.(=)" "" "0000278567" "00010574" "10" "1163" "-106" "1163" "-106" "c.1163-106C>T" "r.(=)" "p.(=)" "" "0000278568" "00010574" "10" "1227" "0" "1227" "0" "c.1227G>A" "r.(?)" "p.(Thr409=)" "" "0000278569" "00010574" "10" "1296" "38" "1296" "38" "c.1296+38G>A" "r.(=)" "p.(=)" "" "0000278570" "00010574" "10" "1578" "0" "1578" "0" "c.1578C>T" "r.(?)" "p.(Ser526=)" "" "0000278571" "00010574" "10" "1639" "10" "1639" "10" "c.1639+10C>T" "r.(=)" "p.(=)" "" "0000278572" "00010574" "10" "184" "-6" "184" "-5" "c.184-6_184-5del" "r.spl?" "p.?" "" "0000278573" "00010574" "10" "1905" "-9" "1905" "-9" "c.1905-9del" "r.(=)" "p.(=)" "" "0000278574" "00010574" "10" "1977" "5919" "1977" "5919" "c.1977+5919C>T" "r.(=)" "p.(=)" "" "0000278575" "00010574" "50" "1977" "5920" "1977" "5920" "c.1977+5920G>A" "r.(=)" "p.(=)" "" "0000278576" "00010574" "10" "2107" "0" "2107" "0" "c.2107T>C" "r.(?)" "p.(Trp703Arg)" "" "0000278577" "00010574" "10" "1977" "6183" "1977" "6183" "c.1977+6183T>C" "r.(=)" "p.(=)" "" "0000278578" "00010574" "10" "1977" "6360" "1977" "6360" "c.1977+6360G>T" "r.(=)" "p.(=)" "" "0000278579" "00010574" "30" "2538" "-3" "2538" "-3" "c.2538-3T>C" "r.spl?" "p.?" "" "0000278580" "00010574" "50" "4073" "0" "4073" "0" "c.4073T>C" "r.(?)" "p.(Val1358Ala)" "" "0000278582" "00010574" "10" "4660" "0" "4660" "0" "c.4660G>A" "r.(?)" "p.(Val1554Met)" "" "0000278583" "00010574" "30" "4808" "9" "4808" "9" "c.4808+9C>G" "r.(=)" "p.(=)" "" "0000278584" "00010574" "10" "4808" "9" "4808" "9" "c.4808+9C>T" "r.(=)" "p.(=)" "" "0000278585" "00010574" "10" "5163" "0" "5163" "0" "c.5163C>A" "r.(?)" "p.(Thr1721=)" "" "0000278586" "00010574" "30" "5294" "0" "5294" "0" "c.5294C>T" "r.(?)" "p.(Pro1765Leu)" "" "0000278588" "00010574" "10" "720" "17" "720" "17" "c.720+17C>T" "r.(=)" "p.(=)" "" "0000278589" "00010574" "10" "865" "-171" "865" "-171" "c.865-171G>A" "r.(=)" "p.(=)" "" "0000281793" "00010574" "10" "1162" "1026" "1162" "1027" "c.1162+1026_1162+1027del" "r.(=)" "p.(=)" "" "0000281794" "00010574" "10" "1639" "10" "1639" "10" "c.1639+10C>T" "r.(=)" "p.(=)" "" "0000281795" "00010574" "10" "5163" "0" "5163" "0" "c.5163C>A" "r.(?)" "p.(Thr1721=)" "" "0000281796" "00010574" "10" "720" "17" "720" "17" "c.720+17C>T" "r.(=)" "p.(=)" "" "0000285807" "00010574" "30" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Ser544Asn)" "" "0000285808" "00010574" "10" "184" "-6" "184" "-5" "c.184-6_184-5del" "r.spl?" "p.?" "" "0000285809" "00010574" "30" "1977" "6360" "1977" "6360" "c.1977+6360G>T" "r.(=)" "p.(=)" "" "0000285810" "00010574" "10" "4660" "0" "4660" "0" "c.4660G>A" "r.(?)" "p.(Val1554Met)" "" "0000285811" "00010574" "10" "4808" "9" "4808" "9" "c.4808+9C>T" "r.(=)" "p.(=)" "" "0000290295" "00010574" "30" "5190" "0" "5190" "0" "c.5190G>T" "r.(?)" "p.(Gly1730=)" "" "0000320524" "00010574" "50" "184" "-6" "184" "-5" "c.184-6_184-5del" "r.spl?" "p.?" "" "0000320525" "00010574" "50" "608" "8" "608" "8" "c.608+8dup" "r.(=)" "p.(=)" "" "0000320526" "00010574" "30" "1977" "6360" "1977" "6360" "c.1977+6360G>T" "r.(=)" "p.(=)" "" "0000336939" "00010574" "10" "1639" "10" "1639" "10" "c.1639+10C>T" "r.(=)" "p.(=)" "" "0000341622" "00010574" "50" "2701" "0" "2701" "0" "c.2701G>T" "r.(?)" "p.(Ala901Ser)" "" "0000346857" "00010574" "50" "1977" "7373" "1977" "7373" "c.1977+7373T>C" "r.(=)" "p.(=)" "" "0000347277" "00010574" "50" "1977" "5977" "1977" "5977" "c.1977+5977C>G" "r.(=)" "p.(=)" "" "0000347650" "00010574" "50" "20" "0" "20" "0" "c.20A>T" "r.(?)" "p.(Lys7Met)" "" "0000350281" "00010574" "50" "4073" "0" "4073" "0" "c.4073T>C" "r.(?)" "p.(Val1358Ala)" "" "0000502226" "00010574" "10" "285" "0" "285" "0" "c.285C>G" "r.(?)" "p.(Ala95=)" "" "0000502227" "00010574" "10" "285" "0" "285" "0" "c.285C>G" "r.(?)" "p.(Ala95=)" "" "0000502228" "00010574" "10" "363" "319" "363" "319" "c.363+319G>A" "r.(=)" "p.(=)" "" "0000502229" "00010574" "10" "608" "8" "608" "8" "c.608+8dup" "r.(=)" "p.(=)" "" "0000502230" "00010574" "10" "608" "8" "608" "8" "c.608+8dup" "r.(=)" "p.(=)" "" "0000502231" "00010574" "50" "782" "0" "782" "0" "c.782A>G" "r.(?)" "p.(Lys261Arg)" "" "0000502249" "00010574" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Ser)" "" "0000502273" "00010574" "30" "1296" "9" "1296" "9" "c.1296+9T>C" "r.(=)" "p.(=)" "" "0000502326" "00010574" "50" "1456" "0" "1456" "0" "c.1456C>G" "r.(?)" "p.(Pro486Ala)" "" "0000502327" "00010574" "30" "1456" "0" "1456" "0" "c.1456C>G" "r.(?)" "p.(Pro486Ala)" "" "0000502328" "00010574" "50" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Gly545Arg)" "" "0000502329" "00010574" "50" "1656" "0" "1656" "0" "c.1656G>T" "r.(?)" "p.(Glu552Asp)" "" "0000502334" "00010574" "30" "1977" "5922" "1977" "5922" "c.1977+5922G>A" "r.(=)" "p.(=)" "" "0000502335" "00010574" "30" "1977" "6183" "1977" "6183" "c.1977+6183T>C" "r.(=)" "p.(=)" "" "0000502336" "00010574" "50" "1977" "6266" "1977" "6266" "c.1977+6266A>C" "r.(=)" "p.(=)" "" "0000502337" "00010574" "50" "1977" "6313" "1977" "6313" "c.1977+6313G>A" "r.(=)" "p.(=)" "" "0000502338" "00010574" "50" "1977" "6449" "1977" "6449" "c.1977+6449A>G" "r.(=)" "p.(=)" "" "0000502339" "00010574" "30" "1977" "6581" "1977" "6581" "c.1977+6581G>A" "r.(=)" "p.(=)" "" "0000502340" "00010574" "30" "1977" "6835" "1977" "6835" "c.1977+6835C>T" "r.(=)" "p.(=)" "" "0000502341" "00010574" "30" "1977" "7031" "1977" "7031" "c.1977+7031T>C" "r.(=)" "p.(=)" "" "0000502342" "00010574" "50" "1977" "7081" "1977" "7081" "c.1977+7081C>T" "r.(=)" "p.(=)" "" "0000502343" "00010574" "50" "2117" "0" "2117" "0" "c.2117G>A" "r.(?)" "p.(Arg706Gln)" "" "0000502344" "00010574" "30" "2480" "0" "2480" "0" "c.2480C>T" "r.(?)" "p.(Thr827Ile)" "" "0000502345" "00010574" "50" "2480" "0" "2480" "0" "c.2480C>T" "r.(?)" "p.(Thr827Ile)" "" "0000502346" "00010574" "30" "3121" "9" "3121" "9" "c.3121+9A>G" "r.(=)" "p.(=)" "" "0000502347" "00010574" "30" "3121" "9" "3121" "9" "c.3121+9A>G" "r.(=)" "p.(=)" "" "0000502349" "00010574" "10" "3507" "0" "3507" "0" "c.3507G>A" "r.(?)" "p.(Pro1169=)" "" "0000502350" "00010574" "10" "3726" "6" "3726" "6" "c.3726+6A>C" "r.(=)" "p.(=)" "" "0000502357" "00010574" "10" "3948" "0" "3948" "0" "c.3948T>C" "r.(?)" "p.(Asp1316=)" "" "0000502358" "00010574" "30" "4020" "0" "4020" "0" "c.4020G>A" "r.(?)" "p.(Ser1340=)" "" "0000502359" "00010574" "50" "4073" "0" "4073" "0" "c.4073T>C" "r.(?)" "p.(Val1358Ala)" "" "0000502361" "00010574" "10" "4458" "0" "4458" "0" "c.4458C>T" "r.(?)" "p.(Pro1486=)" "" "0000502362" "00010574" "30" "4458" "0" "4458" "0" "c.4458C>T" "r.(?)" "p.(Pro1486=)" "" "0000502363" "00010574" "30" "4660" "0" "4660" "0" "c.4660G>A" "r.(?)" "p.(Val1554Met)" "" "0000502364" "00010574" "50" "4682" "0" "4682" "0" "c.4682G>A" "r.(?)" "p.(Cys1561Tyr)" "" "0000502365" "00010574" "50" "4900" "0" "4900" "0" "c.4900C>T" "r.(?)" "p.(Arg1634Ter)" "" "0000502366" "00010574" "10" "5112" "0" "5112" "0" "c.5112A>G" "r.(?)" "p.(Ala1704=)" "" "0000502367" "00010574" "10" "5315" "0" "5315" "0" "c.*2T>C" "r.(=)" "p.(=)" "" "0000604608" "00010574" "50" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72His)" "" "0000604611" "00010574" "30" "866" "0" "866" "0" "c.866G>A" "r.(?)" "p.(Ser289Asn)" "" "0000604621" "00010574" "30" "1977" "5958" "1977" "5958" "c.1977+5958G>A" "r.(=)" "p.(=)" "" "0000604622" "00010574" "10" "1977" "6207" "1977" "6207" "c.1977+6207G>A" "r.(=)" "p.(=)" "" "0000604623" "00010574" "30" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Asn731Ser)" "" "0000604624" "00010574" "50" "2689" "0" "2689" "0" "c.2689G>A" "r.(?)" "p.(Ala897Thr)" "" "0000604625" "00010574" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Asp912=)" "" "0000604626" "00010574" "30" "3507" "0" "3507" "0" "c.3507G>A" "r.(?)" "p.(Pro1169=)" "" "0000604627" "00010574" "30" "4458" "0" "4458" "0" "c.4458C>T" "r.(?)" "p.(Pro1486=)" "" "0000604628" "00010574" "30" "4671" "0" "4671" "0" "c.4671C>T" "r.(?)" "p.(Ser1557=)" "" "0000620320" "00010574" "30" "1977" "5958" "1977" "5958" "c.1977+5958G>A" "r.(=)" "p.(=)" "" "0000620321" "00010574" "30" "1977" "6581" "1977" "6581" "c.1977+6581G>A" "r.(=)" "p.(=)" "" "0000620322" "00010574" "30" "1977" "7080" "1977" "7080" "c.1977+7080A>G" "r.(=)" "p.(=)" "" "0000620323" "00010574" "30" "4374" "15" "4374" "16" "c.4374+15_4374+16insT" "r.(=)" "p.(=)" "" "0000647319" "00010574" "50" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Lys294Arg)" "" "0000647322" "00010574" "10" "1977" "6360" "1977" "6360" "c.1977+6360G>T" "r.(=)" "p.(=)" "" "0000647323" "00010574" "30" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Asn731Ser)" "" "0000647324" "00010574" "30" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Tyr1087Cys)" "" "0000653564" "00010574" "50" "20" "0" "20" "0" "c.20A>T" "r.(?)" "p.(Lys7Met)" "" "0000653565" "00010574" "30" "107" "-8" "107" "-8" "c.107-8T>A" "r.(=)" "p.(=)" "" "0000653574" "00010574" "30" "4020" "0" "4020" "0" "c.4020G>A" "r.(?)" "p.(Ser1340=)" "" "0000653575" "00010574" "50" "4901" "0" "4901" "0" "c.4901G>A" "r.(?)" "p.(Arg1634Gln)" "" "0000668948" "00010574" "50" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Lys294Arg)" "" "0000668950" "00010574" "30" "3260" "0" "3260" "0" "c.3260A>G" "r.(?)" "p.(Tyr1087Cys)" "" "0000675386" "00010574" "30" "1977" "5934" "1977" "5934" "c.1977+5934C>T" "r.(=)" "p.(=)" "" "0000675387" "00010574" "30" "3727" "-20" "3727" "-20" "c.3727-20A>C" "r.(=)" "p.(=)" "" "0000675388" "00010574" "30" "5112" "0" "5112" "0" "c.5112A>G" "r.(?)" "p.(Ala1704=)" "" "0000687793" "00010574" "50" "20" "0" "20" "0" "c.20A>T" "r.(?)" "p.(Lys7Met)" "" "0000687794" "00010574" "30" "107" "-8" "107" "-8" "c.107-8T>A" "r.(=)" "p.(=)" "" "0000687797" "00010574" "10" "1977" "7031" "1977" "7031" "c.1977+7031T>C" "r.(=)" "p.(=)" "" "0000716638" "00010574" "30" "-79" "-18" "-79" "-18" "c.-79-18A>T" "r.(=)" "p.(=)" "" "0000716647" "00010574" "30" "1977" "6183" "1977" "6183" "c.1977+6183T>C" "r.(=)" "p.(=)" "" "0000716648" "00010574" "30" "1977" "6313" "1977" "6313" "c.1977+6313G>A" "r.(=)" "p.(=)" "" "0000716649" "00010574" "30" "2466" "0" "2466" "0" "c.2466C>T" "r.(?)" "p.(Asp822=)" "" "0000798629" "00010574" "50" "864" "720" "864" "720" "c.864+720A>G" "r.(=)" "p.(=)" "" "0000798642" "00010574" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Asp912=)" "" "0000798643" "00010574" "50" "4127" "0" "4127" "0" "c.4127G>A" "r.(?)" "p.(Arg1376His)" "" "0000821006" "00010574" "90" "-1071015" "0" "2268668" "0" "c.-1071015_*2263355del" "r.0?" "p.0?" "" "0000841380" "00010574" "90" "5122" "0" "5122" "0" "c.5122T>C" "r.(?)" "p.(Tyr1708His)" "45" "0000848199" "00010574" "30" "430" "-9" "430" "-9" "c.430-9del" "r.(=)" "p.(=)" "" "0000848212" "00010574" "50" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Ser544Asn)" "" "0000848213" "00010574" "30" "1977" "6835" "1977" "6835" "c.1977+6835C>T" "r.(=)" "p.(=)" "" "0000848214" "00010574" "50" "1977" "6917" "1977" "6917" "c.1977+6917A>G" "r.(=)" "p.(=)" "" "0000848215" "00010574" "10" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Asn731Ser)" "" "0000848216" "00010574" "30" "2455" "0" "2455" "0" "c.2455A>C" "r.(?)" "p.(Ser819Arg)" "" "0000848217" "00010574" "30" "4839" "0" "4839" "0" "c.4839T>C" "r.(?)" "p.(Ser1613=)" "" "0000856862" "00010574" "30" "1633" "0" "1633" "0" "c.1633G>A" "r.(?)" "p.(Gly545Arg)" "" "0000856863" "00010574" "30" "1977" "6581" "1977" "6581" "c.1977+6581G>A" "r.(=)" "p.(=)" "" "0000856864" "00010574" "50" "3490" "0" "3490" "0" "c.3490A>C" "r.(?)" "p.(Asn1164His)" "" "0000882645" "00010574" "30" "-5" "0" "-5" "0" "c.-5T>C" "r.(?)" "p.(=)" "" "0000882659" "00010574" "50" "1456" "0" "1456" "0" "c.1456C>G" "r.(?)" "p.(Pro486Ala)" "" "0000882660" "00010574" "30" "1977" "7081" "1977" "7081" "c.1977+7081C>T" "r.(=)" "p.(=)" "" "0000882661" "00010574" "50" "1977" "7114" "1977" "7114" "c.1977+7114C>T" "r.(=)" "p.(=)" "" "0000882662" "00010574" "30" "1977" "7228" "1977" "7228" "c.1977+7228C>T" "r.(=)" "p.(=)" "" "0000882663" "00010574" "30" "2071" "16" "2071" "16" "c.2071+16C>T" "r.(=)" "p.(=)" "" "0000882664" "00010574" "50" "3097" "0" "3097" "0" "c.3097G>A" "r.(?)" "p.(Glu1033Lys)" "" "0000882665" "00010574" "30" "3550" "15" "3550" "15" "c.3550+15C>T" "r.(=)" "p.(=)" "" "0000882667" "00010574" "10" "4615" "-20" "4615" "-20" "c.4615-20C>A" "r.(=)" "p.(=)" "" "0000882668" "00010574" "30" "4808" "10" "4808" "10" "c.4808+10C>T" "r.(=)" "p.(=)" "" "0000910731" "00010574" "50" "1977" "6116" "1977" "6116" "c.1977+6116A>C" "r.(=)" "p.(=)" "" "0000922902" "00010574" "30" "1977" "5919" "1977" "5919" "c.1977+5919C>T" "r.(=)" "p.(=)" "" "0000922903" "00010574" "30" "1977" "6050" "1977" "6050" "c.1977+6050G>A" "r.(=)" "p.(=)" "" "0000922904" "00010574" "50" "1977" "7024" "1977" "7024" "c.1977+7024G>A" "r.(=)" "p.(=)" "" "0000922905" "00010574" "30" "2455" "0" "2455" "0" "c.2455A>C" "r.(?)" "p.(Ser819Arg)" "" "0000927497" "00010574" "50" "4959" "-1" "4959" "-1" "c.4959-1G>T" "r.(?)" "p.(?)" "" "0000946915" "00010574" "30" "107" "-8" "107" "-8" "c.107-8T>A" "r.(=)" "p.(=)" "" "0000946921" "00010574" "30" "1977" "6835" "1977" "6835" "c.1977+6835C>T" "r.(=)" "p.(=)" "" "0000946922" "00010574" "10" "3498" "0" "3498" "0" "c.3498G>A" "r.(?)" "p.(Pro1166=)" "" "0000960357" "00010574" "30" "2480" "0" "2480" "0" "c.2480C>T" "r.(?)" "p.(Thr827Ile)" "" "0000960358" "00010574" "50" "2993" "0" "2993" "0" "c.2993G>A" "r.(?)" "p.(Ser998Asn)" "" "0000960359" "00010574" "10" "4020" "0" "4020" "0" "c.4020G>A" "r.(?)" "p.(Ser1340=)" "" "0000973152" "00010574" "50" "2582" "0" "2582" "0" "c.2582G>A" "r.(?)" "p.(Arg861His)" "" "0000973153" "00010574" "50" "2905" "0" "2905" "0" "c.2905G>A" "r.(?)" "p.(Ala969Thr)" "" "0000990053" "00010574" "30" "183" "0" "183" "0" "c.183A>G" "r.(?)" "p.(Ser61=)" "" "0000990073" "00010574" "30" "1977" "7176" "1977" "7176" "c.1977+7176C>A" "r.(=)" "p.(=)" "" "0000990076" "00010574" "50" "4006" "0" "4006" "0" "c.4006T>G" "r.(?)" "p.(Tyr1336Asp)" "" "0001013185" "00010574" "30" "2433" "0" "2433" "0" "c.2433T>C" "r.(?)" "p.(Asp811=)" "" "0001013186" "00010574" "30" "2671" "0" "2671" "0" "c.2671G>C" "r.(?)" "p.(Glu891Gln)" "" "0001024006" "00010574" "30" "3269" "0" "3269" "0" "c.3269T>C" "r.(?)" "p.(Ile1090Thr)" "" "0001024007" "00010574" "30" "4705" "0" "4705" "0" "c.4705A>G" "r.(?)" "p.(Ile1569Val)" "" "0001031011" "00010574" "10" "2192" "0" "2192" "0" "c.2192A>G" "r.(?)" "p.(Asn731Ser)" "" "0001031012" "00010574" "30" "2221" "-10" "2221" "-10" "c.2221-10T>C" "r.(=)" "p.(=)" "" "0001062960" "00010574" "30" "2480" "0" "2480" "0" "c.2480C>T" "r.(?)" "p.(Thr827Ile)" "" "0001062961" "00010574" "30" "2537" "3" "2537" "3" "c.2537+3A>G" "r.spl?" "p.?" "" "0001062962" "00010574" "50" "4073" "0" "4073" "0" "c.4073T>C" "r.(?)" "p.(Val1358Ala)" "" "0001069305" "00010574" "50" "5122" "0" "5122" "0" "c.5122T>G" "r.(?)" "p.(Tyr1708Asp)" "" "0001069393" "00010574" "50" "2406" "0" "2406" "0" "c.2406G>T" "r.(?)" "p.(Arg802Ser)" "" "0001069507" "00010574" "50" "2224" "0" "2224" "0" "c.2224C>G" "r.(?)" "p.(Gln742Glu)" "" "0001076283" "00010574" "50" "5038" "0" "5038" "0" "c.5038C>T" "r.(?)" "p.(Arg1680Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000089122" "0000147026" "0000089123" "0000147027" "0000089124" "0000147028" "0000089125" "0000147029" "0000089161" "0000147072" "0000089162" "0000147073" "0000089163" "0000147074" "0000089164" "0000147075" "0000104496" "0000169380" "0000290630" "0000647319" "0000290633" "0000647322" "0000290634" "0000647323" "0000290635" "0000647324" "0000305260" "0000668948" "0000305262" "0000668950" "0000391270" "0000821006" "0000405302" "0000841380" "0000474907" "0001069305" "0000474995" "0001069393" "0000475111" "0001069507" "0000480177" "0001076283"