### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF1A) # 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}}" "KIF1A" "kinesin family member 1A" "2" "q37.2" "unknown" "NG_029724.1" "UD_134408555215" "" "http://www.LOVD.nl/KIF1A" "" "1" "888" "547" "601255" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/KIF1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2011-08-15 00:00:00" "00006" "2017-07-04 20:40:17" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001365" "KIF1A" "transcript variant 1" "001" "NM_001244008.1" "" "NP_001230937.1" "" "" "" "-247" "8976" "5376" "241653181" "241759725" "00000" "2012-09-13 13:29:01" "" "" "00023880" "KIF1A" "transcript variant 2" "002" "NM_004321.6" "" "NP_004312.2" "" "" "" "-60" "8673" "5073" "241737229" "241653181" "00008" "2013-11-25 18:16:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "01089" "SPG30" "paraplegia, spastic, type 30, autosomal recessive" "AD;AR" "610357" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-18 16:00:52" "01090" "HSN2C" "neuropathy, sensory, hereditary, type IIC (HSN-2C)" "AR" "614213" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01091" "NESCAVS" "NESCAV syndrome" "AD" "614255" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KIF1A" "01089" "KIF1A" "01090" "KIF1A" "01091" ## Individuals ## Do not remove or alter this header ## ## Count = 81 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00024269" "" "" "" "1" "" "00006" "{PMID:Hamdan 2011:21376300}" "" "F" "?" "Canada" ">03y05m" "0" "" "" "" "" "00024275" "" "" "" "285" "" "00006" "{PMID:Hamdan 2011:21376300}" "285 controls" "-" "" "Canada" "" "0" "" "" "French" "" "00024276" "" "" "" "50" "" "00006" "{PMID:Hamdan 2011:21376300}" "50 cases" "-" "" "Canada" "" "0" "" "" "French" "" "00036023" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036024" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036025" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036026" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036027" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036028" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036029" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036030" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00046985" "" "" "" "1" "" "00111" "{PMID:Ohba 2015:26354034}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00046986" "" "" "" "1" "" "00111" "{PMID:Ohba 2015:26354034}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00046987" "" "" "" "1" "" "00111" "{PMID:Ohba 2015:26354034}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00046988" "" "" "" "1" "" "00111" "{PMID:Ohba 2015:26354034}" "" "M" "no" "Japan" "" "0" "" "" "Japanese" "" "00046989" "" "" "" "1" "" "00111" "{PMID:Ohba 2015:26354034}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00050420" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00054877" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat22" "00054878" "" "" "" "1" "" "01479" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat23" "00080977" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00108459" "" "" "" "3" "" "00006" "{PMID:Riviere 2011:21820098}" "parents first degree cousins, brother of patients IV:3 and IV:4" "M" "yes" "Afghanistan" "" "0" "" "" "" "" "00108460" "" "" "00108459" "1" "" "00006" "{PMID:Riviere 2011:21820098}" "first degree cousins, brother of patients IV:2 and IV:3" "M" "yes" "Afghanistan" "" "0" "" "" "" "" "00108461" "" "" "" "2" "" "00006" "{PMID:Riviere 2011:21820098}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00108462" "" "" "00108461" "1" "" "00006" "{PMID:Riviere 2011:21820098}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00108463" "" "" "" "2" "" "00006" "{PMID:Riviere 2011:21820098}" "monozygous twin sister of patient II:2" "F" "" "Belgium" "" "0" "" "" "" "" "00108464" "" "" "" "1" "" "00006" "{PMID:Riviere 2011:21820098}" "" "F" "" "Belgium" "" "0" "" "" "" "" "00108465" "" "" "00108459" "1" "" "00006" "{PMID:Riviere 2011:21820098}" "parents first degree cousins, brother of patients IV:2 and IV:4" "M" "yes" "Afghanistan" "" "0" "" "" "" "" "00108466" "" "" "00108463" "1" "" "00006" "{PMID:Riviere 2011:21820098}" "monozygous twin sister of patient II:3" "F" "" "Belgium" "" "0" "" "" "" "" "00151421" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00163914" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00208881" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00210003" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210167" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00225586" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225587" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "" "" "" "0" "" "" "" "" "00225589" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225590" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225591" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00225592" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225593" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225594" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "?" "" "" "0" "" "" "" "" "00225610" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "F" "no" "" "" "0" "" "" "" "" "00225611" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225612" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225613" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225614" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "F" "no" "" "" "0" "" "" "" "" "00225615" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "no" "" "" "0" "" "" "" "" "00225616" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "F" "no" "" "" "0" "" "" "" "" "00225617" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225618" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00225619" "" "" "" "1" "" "03208" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "M" "no" "" "" "0" "" "" "" "" "00245206" "" "" "" "1" "" "03208" "" "" "M" "?" "" "01y" "0" "" "" "" "" "00245844" "" "" "" "1" "" "03208" "" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00246690" "" "" "" "1" "" "03208" "" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00246691" "" "" "" "1" "" "03208" "" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00246692" "" "" "" "1" "" "03208" "" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00246693" "" "" "" "1" "" "03208" "" "" "F" "no" "Netherlands" "" "0" "" "" "" "" "00276028" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00292661" "" "" "" "130" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292662" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292663" "" "" "" "150" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295599" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00304806" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304807" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306152" "" "" "" "1" "" "03730" "" "" "M" "no" "Russian Federation" "" "" "" "" "" "" "00306153" "" "" "" "1" "" "03730" "" "" "M" "" "Russian Federation" "" "0" "" "" "" "" "00306154" "" "" "" "1" "" "03730" "" "" "M" "" "Russian Federation" "" "0" "" "" "" "" "00306155" "" "" "" "1" "" "03730" "" "" "F" "" "Russian Federation" "" "" "" "" "" "" "00374356" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3449" "00374775" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4478" "00374776" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4060" "00374885" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3922" "00377090" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "171011" "00398615" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 2 affected brothers, 1 unaffected sister" "M" "" "Italy" ">67y" "" "" "" "" "184" "00401569" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "173P" "00434867" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}" "" "F" "" "Canada" "" "0" "" "" "" "CMC07" "00448494" "" "" "" "1" "" "01164" "" "" "F" "no" "? (unknown)" "" "0" "" "" "" "286589" "00453741" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV961" "00453768" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV546" "00453808" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV249" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 70 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00024269" "00139" "00024275" "00000" "00024276" "00139" "00046985" "01091" "00046986" "01091" "00046987" "01091" "00046988" "01091" "00046989" "01091" "00050420" "00198" "00054877" "01089" "00054878" "00198" "00080977" "01091" "00108459" "01090" "00108460" "01090" "00108461" "01090" "00108462" "01090" "00108463" "01090" "00108464" "01090" "00108465" "01090" "00108466" "01090" "00151421" "00198" "00163914" "00198" "00208881" "00198" "00225586" "00325" "00225587" "00325" "00225589" "00325" "00225590" "00325" "00225591" "00325" "00225592" "00325" "00225593" "00325" "00225594" "00325" "00225610" "00325" "00225611" "00325" "00225612" "00325" "00225613" "00325" "00225614" "00325" "00225615" "00325" "00225616" "00325" "00225617" "00325" "00225618" "00325" "00225619" "00325" "00245206" "00325" "00245844" "00325" "00246691" "00325" "00246692" "00325" "00246693" "00325" "00276028" "00198" "00292661" "00198" "00292662" "00198" "00292663" "00198" "00295599" "00198" "00304806" "00198" "00304807" "00198" "00306152" "01089" "00306153" "01089" "00306154" "01089" "00306155" "01089" "00374356" "00198" "00374775" "00198" "00374776" "00198" "00374885" "00198" "00377090" "01091" "00398615" "01090" "00401569" "00139" "00434867" "00198" "00448494" "01091" "00453741" "00152" "00453768" "00152" "00453808" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00152, 00198, 00325, 01089, 01090, 01091, 01157 ## Count = 60 "{{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}}" "0000020388" "00139" "00024269" "00006" "Isolated (sporadic)" "" "severe intellectual disability, no epilepsy, axial hypotonia/peripheral\r\nspasticity; MRI mild atrophy of the vermian region of cerebellum" "" "" "" "" "" "" "" "" "" "" "" "0000020394" "00139" "00024276" "00006" "Isolated (sporadic)" "" "nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference" "" "" "" "" "" "" "" "" "" "" "" "0000034353" "01091" "00046985" "00111" "Isolated (sporadic)" "" "Cerebellar ataxia, cerebellar atrophy and lower limb spasticity" "05y" "" "" "" "" "" "" "" "" "" "" "0000034354" "01091" "00046986" "00111" "Isolated (sporadic)" "" "cerebellar atrophy, lower limb spasticity, and visual disturbance" "01y" "" "" "" "" "" "" "" "" "" "" "0000034355" "01091" "00046987" "00111" "Isolated (sporadic)" "" "Developmental delay, cerebellar atrophy, lower limb spasticity, and visual disturbance" "00y08m" "" "" "" "" "" "" "" "" "" "" "0000034356" "01091" "00046988" "00111" "Isolated (sporadic)" "" "Developmental delay, cerebellar atrophy, lower limb spasticity, and visual disturbance" "" "" "" "" "" "" "" "" "" "" "" "0000034357" "01091" "00046989" "00111" "Isolated (sporadic)" "" "Developmental delay, cerebellar atrophy, lower limb spasticity, and visual disturbance" "00y10m" "" "" "" "" "" "" "" "" "" "" "0000037032" "00198" "00050420" "00006" "Isolated (sporadic)" "" "seizures, spastic diplegia, gait ataxia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000041554" "01089" "00054877" "00006" "Familial, autosomal dominant" "" "" "<00y03m" "" "" "" "" "" "" "" "SPG30" "hereditary spastic paraplegia" "" "0000060546" "01091" "00080977" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 9 (OMIM:614255)" "" "" "" "" "" "" "" "" "" "" "" "0000086055" "01090" "00108459" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086056" "01090" "00108460" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086057" "01090" "00108461" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086058" "01090" "00108462" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086059" "01090" "00108463" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086060" "01090" "00108464" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086061" "01090" "00108465" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000086062" "01090" "00108466" "00006" "Familial, autosomal recessive" "" "hereditary sensory and autonomic neuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000123813" "00198" "00151421" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000129026" "00198" "00163914" "01807" "Unknown" "" "HP:0004322 (Short stature)" "" "" "" "" "" "" "" "" "" "" "" "0000157490" "00198" "00208881" "01807" "Unknown" "" "HP:0001257 (Spasticity)" "" "" "" "" "" "" "" "" "" "" "" "0000158601" "00198" "00210003" "01164" "Unknown" "" "HP:0001252 (Muscular hypotonia); HP:0000496 (Abnormality of eye movement); HP:0011804 (Abnormality of muscle physiology); HP:0012373 (Abnormal eye physiology); HP:0100491 (Abnormality of lower limb joint)" "" "" "" "" "" "" "" "" "" "" "" "0000158740" "00198" "00210167" "01164" "Unknown" "" "HP:0001260 (Dysarthria); HP:0001265 (Hyporeflexia); HP:0001279 (Syncope); HP:0000505 (Visual impairment); HP:0011025 (Abnormality of cardiovascular system physiology); HP:0012373 (Abnormal eye physiology); HP:0002167 (Neurological speech impairment); HP:0012638 (Abnormality of nervous system physiology); HP:0002315 (Headache); HP:0012443 (Abnormality of brain morphology); HP:0001250 (Seizures); HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000170699" "00325" "00225586" "03208" "Unknown" "" "pure HSP" "<01y" "" "" "" "" "" "" "" "" "" "" "0000170700" "00325" "00225587" "03208" "Familial, autosomal dominant" "" "" "09y" "14y" "" "" "" "" "" "" "" "" "" "0000170702" "00325" "00225589" "03208" "Familial, autosomal dominant" "" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000170703" "00325" "00225590" "03208" "Familial, autosomal dominant" "38y" "" "21y" "" "" "" "" "" "" "" "" "" "" "0000170704" "00325" "00225591" "03208" "Familial, autosomal dominant" "54y" "" ">18y" "" "" "" "" "" "" "" "" "" "" "0000170705" "00325" "00225592" "03208" "Unknown" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "0000170706" "00325" "00225593" "03208" "Familial, autosomal dominant" "50y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000170707" "00325" "00225594" "03208" "Unknown" "62y" "" "57y" "" "" "" "" "" "" "" "" "" "" "0000170722" "00325" "00225610" "03208" "Familial, autosomal dominant" "" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000170723" "00325" "00225611" "03208" "Unknown" "" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000170724" "00325" "00225612" "03208" "Familial, autosomal dominant" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "0000170725" "00325" "00225613" "03208" "Unknown" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000170726" "00325" "00225614" "03208" "Familial, autosomal dominant" "" "" "01y" "" "" "" "" "" "" "" "" "" "" "0000170727" "00325" "00225616" "03208" "Familial, autosomal dominant" "" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000170728" "00325" "00225617" "03208" "Familial, autosomal dominant" "" "" "<02y" "" "" "" "" "" "" "" "" "" "" "0000170729" "00325" "00225618" "03208" "Unknown" "" "" "02y" "" "" "" "" "" "" "" "" "" "" "0000170730" "00325" "00225619" "03208" "Unknown" "" "" "<05y" "" "" "" "" "" "" "" "" "" "" "0000185686" "00325" "00245844" "03208" "Familial, autosomal dominant" "" "" "13y" "17y" "" "" "" "" "" "" "" "" "" "0000186535" "00325" "00246691" "03208" "Familial, autosomal dominant" "04y" "" "01y" "" "" "" "" "" "" "" "" "1y" "" "0000186536" "00325" "00246692" "03208" "Familial, autosomal dominant" "03y" "" "01y" "03y" "" "" "" "" "" "" "" "" "" "0000186537" "00325" "00246693" "03208" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210584" "00198" "00276028" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000223164" "00198" "00295599" "01164" "Unknown" "" "Spastic paraparesis (HP:0002313)" "" "" "" "" "" "" "" "" "" "" "" "0000232083" "01089" "00306152" "03730" "-" "07y06m" "Phenotype at the examination: body mass 40 kg (>97 centile), height 130 cm (>95 centile), body mass index 100 centile, head circumference 54 cm, facial features prominent incisors, poor dermatoglyphics; tendon reflexes are brisk (in legs more than in arms), gait was slow, spastic with elements paretic and leg recurvation; mental retardation (MR), quiet behavior, stereotypies." "02y09m" "07y06m" "" "" "" "" "" "" "SPG30" "HSP" "" "0000269566" "00198" "00374356" "00006" "Familial, autosomal dominant" "" "Regression since early infancy, ID, impaired vision, myoclonic epilepsy, spastic quadriparesis and cerebellar atrophy" "" "" "" "" "" "" "" "" "" "epilepsy, intellectual disability" "" "0000269985" "00198" "00374775" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "ataxia, intellectual disability" "" "0000269986" "00198" "00374776" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000270095" "00198" "00374885" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000272277" "01091" "00377090" "01164" "Unknown" "" "Congenital blindness, Optic atrophy, Global developmental delay, Umbilical hernia, Microcephaly, Muscular hypotonia" "" "02y" "" "" "" "" "" "" "" "" "" "0000291702" "01090" "00398615" "04188" "Familial, autosomal recessive" "67y" "Peripheral neuropathy (HP:0009830), Distal muscle weakness (HP:0002460), Hearing impairment (HP:0000365), Decreased nerve conduction velocity (HP:0000762), Upper motor neuron dysfunction (HP:0002493)" "45y" "" "Peripheral neuropathy (HP:0009830), Distal muscle weakness (HP:0002460), Hearing impairment (HP:0000365), Decreased nerve conduction velocity (HP:0000762), Upper motor neuron dysfunction (HP:0002493)" "" "" "" "" "" "HSN2C" "CMT" "" "0000315335" "00198" "00054878" "00006" "Familial, autosomal dominant" "" "" "<20y" "" "" "" "" "" "" "" "SPG30" "hereditary spastic paraplegia" "" "0000325106" "00198" "00434867" "00006" "Unknown" "" "global developmental delay, hypotonia, structural central nervous system anomalies" "" "" "" "" "" "" "" "" "" "" "" "0000337681" "01091" "00448494" "01164" "Isolated (sporadic)" "00y02m" "Seizure, Choroid plexus cyst, EEG abnormality, Neonatal epileptic spasm, Myoclonic spasms" "" "" "" "" "" "" "" "" "" "" "" "0000342398" "00152" "00453741" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342425" "00152" "00453768" "00006" "Unknown" "" "coarctation, ventricular septal defect" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342465" "00152" "00453808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 81 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000024261" "00024269" "1" "00006" "00006" "2014-11-14 19:17:25" "" "" "SEQ" "DNA" "" "" "0000024267" "00024275" "1" "00006" "00006" "2014-11-15 10:20:14" "" "" "SEQ" "DNA" "" "" "0000024268" "00024276" "1" "00006" "00006" "2014-11-15 10:49:27" "" "" "SEQ" "DNA" "" "" "0000036093" "00036023" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036094" "00036024" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036095" "00036025" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036096" "00036026" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036097" "00036027" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036098" "00036028" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036099" "00036029" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036100" "00036030" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000047185" "00046985" "1" "00111" "00111" "2015-08-04 11:44:25" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000047186" "00046986" "1" "00111" "00111" "2015-08-04 11:59:56" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000047187" "00046987" "1" "00111" "00111" "2015-08-04 12:07:05" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000047188" "00046988" "1" "00111" "00111" "2015-08-04 12:14:28" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000047189" "00046989" "1" "00111" "00111" "2015-08-04 12:23:56" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000050365" "00050420" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000054829" "00054877" "1" "01479" "01479" "2015-11-30 16:33:56" "" "" "SEQ-NG" "DNA" "" "" "0000054830" "00054878" "1" "01479" "01479" "2015-11-30 16:35:21" "" "" "SEQ-NG" "DNA" "" "" "0000081089" "00080977" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000108927" "00108459" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108928" "00108460" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108929" "00108461" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108930" "00108462" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108931" "00108463" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108932" "00108464" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108933" "00108465" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000108934" "00108466" "1" "00006" "00002" "2011-08-25 09:07:07" "" "" "SEQ" "DNA" "" "" "0000152276" "00151421" "0" "01807" "01807" "2018-01-18 12:16:51" "" "" "SEQ" "DNA" "" "" "0000164778" "00163914" "1" "01807" "01807" "2018-04-23 08:51:21" "" "" "SEQ" "DNA" "" "" "0000209931" "00208881" "1" "01807" "01807" "2018-12-19 12:47:15" "" "" "SEQ" "DNA" "" "" "0000211060" "00210003" "1" "01164" "01164" "2018-12-25 09:53:49" "" "" "SEQ-NG" "DNA" "" "" "0000211243" "00210167" "1" "01164" "01164" "2018-12-27 15:47:16" "" "" "SEQ-NG" "DNA" "" "" "0000226665" "00225586" "1" "03208" "03208" "2019-02-18 14:08:09" "" "" "SEQ-NG" "DNA" "" "" "0000226666" "00225587" "1" "03208" "03208" "2019-02-18 14:17:38" "" "" "SEQ-NG" "DNA" "" "" "0000226668" "00225589" "1" "03208" "03208" "2019-02-18 14:24:25" "" "" "SEQ-NG" "DNA" "" "" "0000226669" "00225590" "1" "03208" "03208" "2019-02-18 14:28:37" "" "" "SEQ-NG" "DNA" "" "" "0000226670" "00225591" "1" "03208" "03208" "2019-02-18 14:32:12" "" "" "SEQ-NG" "DNA" "" "" "0000226671" "00225592" "1" "03208" "03208" "2019-02-18 14:36:05" "" "" "SEQ-NG" "DNA" "" "" "0000226672" "00225593" "1" "03208" "03208" "2019-02-18 14:40:47" "" "" "SEQ-NG" "DNA" "" "" "0000226673" "00225594" "1" "03208" "03208" "2019-02-18 14:43:45" "" "" "SEQ-NG" "DNA" "" "" "0000226689" "00225610" "1" "03208" "03208" "2019-02-19 08:49:15" "" "" "SEQ-NG" "DNA" "" "" "0000226690" "00225611" "1" "03208" "03208" "2019-02-19 08:52:57" "" "" "SEQ-NG" "DNA" "" "" "0000226691" "00225612" "1" "03208" "03208" "2019-02-19 08:55:44" "" "" "SEQ-NG" "DNA" "" "" "0000226692" "00225613" "1" "03208" "03208" "2019-02-19 08:58:38" "" "" "SEQ-NG" "DNA" "" "" "0000226693" "00225614" "1" "03208" "03208" "2019-02-19 09:02:35" "" "" "SEQ-NG" "DNA" "" "" "0000226694" "00225615" "1" "03208" "03208" "2019-02-19 09:04:32" "" "" "SEQ-NG" "DNA" "" "" "0000226695" "00225616" "1" "03208" "03208" "2019-02-19 09:07:03" "" "" "SEQ-NG" "DNA" "" "" "0000226696" "00225617" "1" "03208" "03208" "2019-02-19 09:09:14" "" "" "SEQ-NG" "DNA" "" "" "0000226697" "00225618" "1" "03208" "03208" "2019-02-19 09:11:25" "" "" "SEQ-NG" "DNA" "" "" "0000226698" "00225619" "1" "03208" "03208" "2019-02-19 09:13:32" "" "" "SEQ-NG" "DNA" "" "" "0000246318" "00245206" "1" "03208" "03208" "2019-07-02 15:12:30" "" "" "PCR" "DNA" "" "" "0000246956" "00245844" "1" "03208" "03208" "2019-07-09 12:42:18" "" "" "PCR" "DNA" "" "" "0000247801" "00246690" "1" "03208" "03208" "2019-07-16 13:16:08" "" "" "PCR" "DNA" "" "" "0000247802" "00246691" "1" "03208" "03208" "2019-07-16 13:23:33" "" "" "PCR" "DNA" "" "" "0000247803" "00246692" "1" "03208" "03208" "2019-07-16 13:28:12" "" "" "PCR" "DNA" "" "" "0000247804" "00246693" "1" "03208" "03208" "2019-07-16 13:35:27" "" "" "PCR" "DNA" "" "" "0000277175" "00276028" "1" "01807" "01807" "2020-01-24 11:02:18" "" "" "SEQ" "DNA" "" "" "0000293829" "00292661" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293830" "00292662" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293831" "00292663" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296769" "00295599" "1" "01164" "01164" "2020-03-18 10:49:39" "" "" "SEQ-NG-S" "DNA" "" "" "0000305935" "00304806" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305936" "00304807" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307284" "00306152" "1" "03730" "03730" "2020-07-09 15:11:25" "" "" "SEQ-NG-IT" "DNA" "" "" "0000307285" "00306153" "1" "03730" "03730" "2020-07-09 15:27:11" "" "" "SEQ-NG-IT" "DNA" "" "" "0000307286" "00306154" "1" "03730" "03730" "2020-07-09 15:33:22" "" "" "SEQ-NG-IT" "DNA" "" "" "0000307287" "00306155" "1" "03730" "03730" "2020-07-09 15:40:04" "" "" "SEQ-NG-IT" "DNA" "" "" "0000375550" "00374356" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375969" "00374775" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375970" "00374776" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376079" "00374885" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378294" "00377090" "1" "01164" "01164" "2021-07-01 12:07:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000399860" "00398615" "1" "04188" "04188" "2022-01-07 11:33:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000402812" "00401569" "1" "02494" "02494" "2022-02-01 10:01:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000436339" "00434867" "1" "00006" "00006" "2023-04-07 18:27:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450073" "00448494" "1" "01164" "01164" "2024-03-15 11:25:34" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000455353" "00453741" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455380" "00453768" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455420" "00453808" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000024261" "KIF1A" "0000024267" "CACNG2" "0000024267" "EPB41L1" "0000024267" "GRIN1" "0000024267" "KIF1A" "0000024268" "CACNG2" "0000024268" "EPB41L1" "0000024268" "GRIN1" "0000024268" "KIF1A" "0000036093" "KIF1A" "0000036094" "KIF1A" "0000036095" "KIF1A" "0000036096" "KIF1A" "0000036097" "KIF1A" "0000036098" "KIF1A" "0000036099" "KIF1A" "0000036100" "KIF1A" "0000050365" "KIF1A" "0000054829" "KIF1A" "0000054830" "KIF1A" "0000081089" "KIF1A" "0000108927" "KIF1A" "0000108928" "KIF1A" "0000108929" "KIF1A" "0000108930" "KIF1A" "0000108931" "KIF1A" "0000108932" "KIF1A" "0000108933" "KIF1A" "0000108934" "KIF1A" "0000226665" "N4BP1" "0000307284" "KIF1A" "0000307285" "KIF1A" "0000307286" "KIF1A" "0000307287" "KIF1A" "0000375550" "KIF1A" "0000375969" "KIF1A" "0000375970" "KIF1A" "0000376079" "KIF1A" "0000378294" "KIF1A" "0000399860" "KIF1A" "0000450073" "KIF1A" ## 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 = 553 "{{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}}" "0000011769" "0" "30" "2" "241689028" "241689028" "subst" "0" "00037" "KIF1A_000003" "g.241689028C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.240749611C>T" "" "likely benign" "" "0000046854" "0" "90" "2" "241727535" "241727535" "subst" "0" "00006" "KIF1A_000004" "g.241727535G>A" "" "{PMID:Hamdan 2011:21376300}" "" "" "" "De novo" "yes" "" "0" "" "" "g.240788118G>A" "" "pathogenic" "" "0000046855" "0" "90" "2" "241727535" "241727535" "subst" "0" "00006" "KIF1A_000004" "g.241727535G>A" "" "{PMID:Hamdan 2011:21376300}" "" "" "expression cloning EGFP-tagged motor domain KIF1A-constructs in cultured hippocampal neurons, show greatly reduced distal localization and increased accumulation throughout cell body/proximal neurites" "In vitro (cloned)" "-" "" "0" "" "" "g.240788118G>A" "" "NA" "" "0000046856" "0" "90" "2" "241715290" "241715291" "delins" "0" "00006" "KIF1A_000000" "g.241715290_241715291delinsCA" "" "{PMID:Hamdan 2011:21376300}" "" "" "expression cloning EGFP-tagged motor domain KIF1A-constructs in cultured hippocampal neurons, show greatly reduced distal localization and increased accumulation throughout cell body/proximal neurites" "In vitro (cloned)" "-" "" "0" "" "" "g.240775873_240775874delinsCA" "" "NA" "" "0000046890" "0" "30" "2" "241685199" "241685199" "subst" "0.000545292" "00006" "KIF1A_000005" "g.241685199C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745782C>T" "" "likely benign" "" "0000046891" "0" "30" "2" "241657431" "241657431" "subst" "5.70028E-6" "00006" "KIF1A_000006" "g.241657431C>G" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240718014C>G" "" "likely benign" "" "0000046892" "0" "30" "2" "241658401" "241658401" "subst" "2.09617E-5" "00006" "KIF1A_000007" "g.241658401C>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240718984C>A" "" "likely benign" "" "0000046893" "0" "30" "2" "241658550" "241658550" "subst" "3.26009E-5" "00006" "KIF1A_000008" "g.241658550C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719133C>T" "" "likely benign" "" "0000046894" "0" "30" "2" "241658612" "241658612" "subst" "0.000469708" "00006" "KIF1A_000009" "g.241658612C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719195C>T" "" "likely benign" "" "0000046895" "0" "30" "2" "241659175" "241659175" "subst" "0.00268726" "00006" "KIF1A_000010" "g.241659175G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "" "0" "" "" "g.240719758G>A" "" "likely benign" "" "0000046896" "0" "30" "2" "241659285" "241659285" "subst" "0.00034885" "00006" "KIF1A_000011" "g.241659285C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719868C>T" "" "likely benign" "" "0000046897" "0" "30" "2" "241662027" "241662027" "subst" "5.65087E-5" "00006" "KIF1A_000012" "g.241662027G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240722610G>A" "" "likely benign" "" "0000046898" "0" "30" "2" "241662957" "241662957" "subst" "0" "00006" "KIF1A_000013" "g.241662957C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240723540C>T" "" "likely benign" "" "0000046899" "0" "30" "2" "241666220" "241666220" "subst" "0.00250122" "00006" "KIF1A_000014" "g.241666220G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240726803G>A" "" "likely benign" "" "0000046900" "0" "30" "2" "241682330" "241682330" "subst" "3.76802E-5" "00006" "KIF1A_000015" "g.241682330C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240742913C>T" "" "likely benign" "" "0000046901" "0" "30" "2" "241682387" "241682387" "subst" "5.79825E-5" "00006" "KIF1A_000016" "g.241682387G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240742970G>A" "" "likely benign" "" "0000046902" "0" "30" "2" "241685084" "241685084" "subst" "0" "00006" "KIF1A_000017" "g.241685084C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745667C>T" "" "likely benign" "" "0000046903" "0" "30" "2" "241685115" "241685115" "subst" "5.5537E-5" "00006" "KIF1A_000018" "g.241685115C>G" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745698C>G" "" "likely benign" "" "0000046904" "0" "30" "2" "241685446" "241685446" "subst" "0.000656799" "00006" "KIF1A_000019" "g.241685446G>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240746029G>T" "" "likely benign" "" "0000046905" "0" "30" "2" "241686737" "241686737" "subst" "0.00391103" "00006" "KIF1A_000020" "g.241686737G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240747320G>A" "" "likely benign" "" "0000046906" "0" "30" "2" "241697884" "241697884" "subst" "0.00183009" "00006" "KIF1A_000021" "g.241697884G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240758467G>A" "" "likely benign" "" "0000046907" "0" "30" "2" "241702124" "241702124" "subst" "7.94218E-5" "00006" "KIF1A_000022" "g.241702124G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240762707G>A" "" "likely benign" "" "0000046908" "0" "30" "2" "241702550" "241702550" "subst" "0.000436162" "00006" "KIF1A_000023" "g.241702550G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240763133G>A" "" "likely benign" "" "0000046909" "0" "30" "2" "241705110" "241705110" "subst" "7.3908E-5" "00006" "KIF1A_000024" "g.241705110G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240765693G>A" "" "likely benign" "" "0000046910" "0" "30" "2" "241710381" "241710381" "subst" "0.000306992" "00006" "KIF1A_000025" "g.241710381C>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240770964C>A" "" "likely benign" "" "0000046911" "0" "30" "2" "241724376" "241724376" "subst" "0.000651354" "00006" "KIF1A_000026" "g.241724376G>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240784959G>T" "" "likely benign" "" "0000046912" "0" "30" "2" "241725706" "241725706" "subst" "0.00023002" "00006" "KIF1A_000027" "g.241725706C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240786289C>T" "" "likely benign" "" "0000046913" "0" "30" "2" "241726704" "241726704" "subst" "0.00485054" "00006" "KIF1A_000028" "g.241726704G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs35139906" "0" "" "" "g.240787287G>A" "" "likely benign" "" "0000046914" "0" "30" "2" "241727452" "241727452" "subst" "0.00214653" "00006" "KIF1A_000029" "g.241727452G>A" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs7594569" "0" "" "" "g.240788035G>A" "" "likely benign" "" "0000046915" "0" "30" "2" "241728698" "241728698" "subst" "0.00019094" "00006" "KIF1A_000030" "g.241728698C>T" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240789281C>T" "" "likely benign" "" "0000046916" "0" "30" "2" "241737029" "241737029" "subst" "3.60149E-5" "00006" "KIF1A_000031" "g.241737029T>C" "1/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240797612T>C" "" "likely benign" "" "0000046917" "0" "30" "2" "241685120" "241685120" "subst" "0.000683232" "00006" "KIF1A_000032" "g.241685120C>T" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745703C>T" "" "likely benign" "" "0000046918" "0" "30" "2" "241685283" "241685283" "subst" "0.000858045" "00006" "KIF1A_000033" "g.241685283G>A" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745866G>A" "" "likely benign" "" "0000046919" "0" "30" "2" "241697062" "241697062" "subst" "0" "00006" "KIF1A_000034" "g.241697062G>C" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240757645G>C" "" "likely benign" "" "0000046920" "0" "30" "2" "241708481" "241708481" "subst" "0" "00006" "KIF1A_000035" "g.241708481A>T" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240769064A>T" "" "likely benign" "" "0000046921" "0" "30" "2" "241725717" "241725717" "subst" "0.0100764" "00006" "KIF1A_000036" "g.241725717G>A" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs13405424" "0" "" "" "g.240786300G>A" "" "likely benign" "" "0000046922" "0" "30" "2" "241737040" "241737040" "subst" "5.11365E-5" "00006" "KIF1A_000037" "g.241737040G>A" "2/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240797623G>A" "" "likely benign" "" "0000046923" "0" "30" "2" "241660387" "241660387" "subst" "0.00353509" "00006" "KIF1A_000038" "g.241660387G>T" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs76974316" "0" "" "" "g.240720970G>T" "" "likely benign" "" "0000046924" "0" "30" "2" "241661934" "241661934" "subst" "0.00380752" "00006" "KIF1A_000039" "g.241661934G>A" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240722517G>A" "" "likely benign" "" "0000046925" "0" "30" "2" "241679464" "241679464" "subst" "0.012936" "00006" "KIF1A_000040" "g.241679464A>G" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs56847463" "0" "" "" "g.240740047A>G" "" "likely benign" "" "0000046926" "0" "10" "2" "241679488" "241679488" "subst" "0.00228652" "00006" "KIF1A_000041" "g.241679488G>A" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "" "0" "" "" "g.240740071G>A" "" "benign" "" "0000046927" "0" "30" "2" "241680638" "241680638" "subst" "0.00108909" "00006" "KIF1A_000042" "g.241680638C>G" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240741221C>G" "" "likely benign" "" "0000046928" "0" "30" "2" "241685270" "241685270" "subst" "0.00369162" "00006" "KIF1A_000043" "g.241685270G>A" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745853G>A" "" "likely benign" "" "0000046929" "0" "30" "2" "241689808" "241689808" "subst" "0.00761989" "00006" "KIF1A_000044" "g.241689808G>A" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "" "0" "" "" "g.240750391G>A" "" "likely benign" "" "0000046930" "0" "30" "2" "241727627" "241727627" "subst" "0.00290137" "00006" "KIF1A_000045" "g.241727627C>A" "3/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240788210C>A" "" "likely benign" "" "0000046931" "0" "30" "2" "241661319" "241661319" "subst" "0.00840935" "00006" "KIF1A_000046" "g.241661319G>A" "4/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs80067787" "0" "" "" "g.240721902G>A" "" "likely benign" "" "0000046932" "0" "30" "2" "241663375" "241663375" "subst" "0.00723009" "00006" "KIF1A_000047" "g.241663375G>A" "4/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240723958G>A" "" "likely benign" "" "0000046933" "0" "10" "2" "241664801" "241664801" "subst" "0.0385556" "00006" "KIF1A_000048" "g.241664801C>T" "4/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs2241683" "0" "" "" "g.240725384C>T" "" "benign" "" "0000046934" "0" "30" "2" "241727399" "241727399" "subst" "0" "00006" "KIF1A_000049" "g.241727399G>T" "4/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "" "0" "" "" "g.240787982G>T" "" "likely benign" "" "0000046935" "0" "30" "2" "241721935" "241721935" "subst" "0" "00006" "KIF1A_000050" "g.241721935A>G" "5/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs78169894" "0" "" "" "g.240782518A>G" "" "likely benign" "" "0000046936" "0" "10" "2" "241683312" "241683312" "subst" "0.0100764" "00006" "KIF1A_000051" "g.241683312G>A" "6/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240743895G>A" "" "benign" "" "0000046937" "0" "10" "2" "241689982" "241689982" "subst" "0.0137021" "00006" "KIF1A_000052" "g.241689982C>T" "7/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240750565C>T" "" "benign" "" "0000046938" "0" "10" "2" "241713717" "241713717" "subst" "0.0196027" "00006" "KIF1A_000053" "g.241713717T>G" "7/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240774300T>G" "" "benign" "" "0000046939" "0" "10" "2" "241706757" "241706757" "subst" "0.0195704" "00006" "KIF1A_000054" "g.241706757T>C" "9/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs35663732" "0" "" "" "g.240767340T>C" "" "benign" "" "0000046940" "0" "10" "2" "241686636" "241686636" "subst" "0.0078878" "00006" "KIF1A_000055" "g.241686636G>A" "11/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240747219G>A" "" "benign" "" "0000046941" "0" "10" "2" "241685586" "241685586" "subst" "0.0470047" "00006" "KIF1A_000056" "g.241685586G>A" "18/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs73102625" "0" "" "" "g.240746169G>A" "" "benign" "" "0000046942" "0" "10" "2" "241689833" "241689833" "subst" "0.0209905" "00006" "KIF1A_000057" "g.241689833G>A" "20/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "" "0" "" "" "g.240750416G>A" "" "benign" "" "0000046943" "0" "10" "2" "241661192" "241661192" "subst" "0.0564019" "00006" "KIF1A_000058" "g.241661192G>A" "28/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs11901423" "0" "" "" "g.240721775G>A" "" "benign" "" "0000046944" "0" "10" "2" "241700676" "241700676" "subst" "0.0371939" "00006" "KIF1A_000059" "g.241700676G>A" "30/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs35945835" "0" "" "" "g.240761259G>A" "" "benign" "" "0000046945" "0" "10" "2" "241680802" "241680802" "subst" "0.348669" "00006" "KIF1A_000060" "g.241680802G>A" "81/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs56024577" "0" "" "" "g.240741385G>A" "" "benign" "" "0000046946" "0" "10" "2" "241722445" "241722445" "subst" "0.218869" "00006" "KIF1A_000061" "g.241722445G>A" "106/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs2288750" "0" "" "" "g.240783028G>A" "" "benign" "" "0000046947" "0" "10" "2" "241680644" "241680644" "subst" "0.228229" "00006" "KIF1A_000062" "g.241680644G>C" "130/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs1013225" "0" "" "" "g.240741227G>C" "" "benign" "" "0000046948" "0" "10" "2" "241713646" "241713646" "subst" "0.373585" "00006" "KIF1A_000063" "g.241713646A>G" "167/285 controls" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs1063353" "0" "" "" "g.240774229A>G" "" "benign" "" "0000046949" "0" "10" "2" "241726646" "241726646" "subst" "0.413018" "00006" "KIF1A_000064" "g.241726646A>G" "174/285 control" "{PMID:Hamdan 2011:21376300}" "" "" "incl. homozygous cases" "Germline" "" "rs2288746" "0" "" "" "g.240787229A>G" "" "benign" "" "0000046988" "1" "30" "2" "241685199" "241685199" "subst" "0.000545292" "00006" "KIF1A_000005" "g.241685199C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745782C>T" "" "likely benign" "" "0000046989" "0" "30" "2" "241657431" "241657431" "subst" "5.70028E-6" "00006" "KIF1A_000006" "g.241657431C>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240718014C>G" "" "likely benign" "" "0000046990" "0" "30" "2" "241658401" "241658401" "subst" "2.09617E-5" "00006" "KIF1A_000007" "g.241658401C>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240718984C>A" "" "likely benign" "" "0000046991" "1" "30" "2" "241658550" "241658550" "subst" "3.26009E-5" "00006" "KIF1A_000008" "g.241658550C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719133C>T" "" "likely benign" "" "0000046992" "1" "30" "2" "241658612" "241658612" "subst" "0.000469708" "00006" "KIF1A_000009" "g.241658612C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719195C>T" "" "likely benign" "" "0000046993" "0" "30" "2" "241659175" "241659175" "subst" "0.00268726" "00006" "KIF1A_000010" "g.241659175G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719758G>A" "" "likely benign" "" "0000046994" "1" "30" "2" "241659285" "241659285" "subst" "0.00034885" "00006" "KIF1A_000011" "g.241659285C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240719868C>T" "" "likely benign" "" "0000046995" "1" "30" "2" "241662027" "241662027" "subst" "5.65087E-5" "00006" "KIF1A_000012" "g.241662027G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240722610G>A" "" "likely benign" "" "0000046996" "1" "30" "2" "241662957" "241662957" "subst" "0" "00006" "KIF1A_000013" "g.241662957C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240723540C>T" "" "likely benign" "" "0000046997" "0" "30" "2" "241666220" "241666220" "subst" "0.00250122" "00006" "KIF1A_000014" "g.241666220G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240726803G>A" "" "likely benign" "" "0000046998" "0" "30" "2" "241682330" "241682330" "subst" "3.76802E-5" "00006" "KIF1A_000015" "g.241682330C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240742913C>T" "" "likely benign" "" "0000046999" "1" "30" "2" "241682387" "241682387" "subst" "5.79825E-5" "00006" "KIF1A_000016" "g.241682387G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240742970G>A" "" "likely benign" "" "0000047000" "0" "30" "2" "241685084" "241685084" "subst" "0" "00006" "KIF1A_000017" "g.241685084C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745667C>T" "" "likely benign" "" "0000047001" "0" "30" "2" "241685115" "241685115" "subst" "5.5537E-5" "00006" "KIF1A_000018" "g.241685115C>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745698C>G" "" "likely benign" "" "0000047002" "0" "30" "2" "241685446" "241685446" "subst" "0.000656799" "00006" "KIF1A_000019" "g.241685446G>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240746029G>T" "" "likely benign" "" "0000047003" "1" "30" "2" "241686737" "241686737" "subst" "0.00391103" "00006" "KIF1A_000020" "g.241686737G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240747320G>A" "" "likely benign" "" "0000047004" "1" "30" "2" "241697884" "241697884" "subst" "0.00183009" "00006" "KIF1A_000021" "g.241697884G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240758467G>A" "" "likely benign" "" "0000047005" "0" "30" "2" "241702124" "241702124" "subst" "7.94218E-5" "00006" "KIF1A_000022" "g.241702124G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240762707G>A" "" "likely benign" "" "0000047006" "0" "30" "2" "241702550" "241702550" "subst" "0.000436162" "00006" "KIF1A_000023" "g.241702550G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240763133G>A" "" "likely benign" "" "0000047007" "0" "30" "2" "241705110" "241705110" "subst" "7.3908E-5" "00006" "KIF1A_000024" "g.241705110G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240765693G>A" "" "likely benign" "" "0000047008" "0" "30" "2" "241710381" "241710381" "subst" "0.000306992" "00006" "KIF1A_000025" "g.241710381C>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240770964C>A" "" "likely benign" "" "0000047009" "0" "30" "2" "241724376" "241724376" "subst" "0.000651354" "00006" "KIF1A_000026" "g.241724376G>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240784959G>T" "" "likely benign" "" "0000047010" "0" "30" "2" "241725706" "241725706" "subst" "0.00023002" "00006" "KIF1A_000027" "g.241725706C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240786289C>T" "" "likely benign" "" "0000047011" "0" "30" "2" "241726704" "241726704" "subst" "0.00485054" "00006" "KIF1A_000028" "g.241726704G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs35139906" "0" "" "" "g.240787287G>A" "" "likely benign" "" "0000047012" "0" "30" "2" "241727452" "241727452" "subst" "0.00214653" "00006" "KIF1A_000029" "g.241727452G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs7594569" "0" "" "" "g.240788035G>A" "" "likely benign" "" "0000047013" "1" "30" "2" "241728698" "241728698" "subst" "0.00019094" "00006" "KIF1A_000030" "g.241728698C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240789281C>T" "" "likely benign" "" "0000047014" "0" "30" "2" "241737029" "241737029" "subst" "3.60149E-5" "00006" "KIF1A_000031" "g.241737029T>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240797612T>C" "" "likely benign" "" "0000047015" "0" "30" "2" "241685120" "241685120" "subst" "0.000683232" "00006" "KIF1A_000032" "g.241685120C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745703C>T" "" "likely benign" "" "0000047016" "0" "30" "2" "241685283" "241685283" "subst" "0.000858045" "00006" "KIF1A_000033" "g.241685283G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745866G>A" "" "likely benign" "" "0000047017" "0" "30" "2" "241697062" "241697062" "subst" "0" "00006" "KIF1A_000034" "g.241697062G>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240757645G>C" "" "likely benign" "" "0000047018" "0" "30" "2" "241708481" "241708481" "subst" "0" "00006" "KIF1A_000035" "g.241708481A>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240769064A>T" "" "likely benign" "" "0000047019" "0" "30" "2" "241725717" "241725717" "subst" "0.0100764" "00006" "KIF1A_000036" "g.241725717G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs13405424" "0" "" "" "g.240786300G>A" "" "likely benign" "" "0000047020" "0" "30" "2" "241737040" "241737040" "subst" "5.11365E-5" "00006" "KIF1A_000037" "g.241737040G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240797623G>A" "" "likely benign" "" "0000047021" "0" "30" "2" "241660387" "241660387" "subst" "0.00353509" "00006" "KIF1A_000038" "g.241660387G>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs76974316" "0" "" "" "g.240720970G>T" "" "likely benign" "" "0000047022" "0" "30" "2" "241661934" "241661934" "subst" "0.00380752" "00006" "KIF1A_000039" "g.241661934G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240722517G>A" "" "likely benign" "" "0000047023" "0" "30" "2" "241679464" "241679464" "subst" "0.012936" "00006" "KIF1A_000040" "g.241679464A>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs56847463" "0" "" "" "g.240740047A>G" "" "likely benign" "" "0000047024" "0" "10" "2" "241679488" "241679488" "subst" "0.00228652" "00006" "KIF1A_000041" "g.241679488G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240740071G>A" "" "benign" "" "0000047025" "0" "30" "2" "241680638" "241680638" "subst" "0.00108909" "00006" "KIF1A_000042" "g.241680638C>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240741221C>G" "" "likely benign" "" "0000047026" "0" "30" "2" "241685270" "241685270" "subst" "0.00369162" "00006" "KIF1A_000043" "g.241685270G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240745853G>A" "" "likely benign" "" "0000047027" "0" "30" "2" "241689808" "241689808" "subst" "0.00761989" "00006" "KIF1A_000044" "g.241689808G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240750391G>A" "" "likely benign" "" "0000047028" "0" "30" "2" "241727627" "241727627" "subst" "0.00290137" "00006" "KIF1A_000045" "g.241727627C>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240788210C>A" "" "likely benign" "" "0000047029" "0" "30" "2" "241661319" "241661319" "subst" "0.00840935" "00006" "KIF1A_000046" "g.241661319G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs80067787" "0" "" "" "g.240721902G>A" "" "likely benign" "" "0000047030" "0" "30" "2" "241663375" "241663375" "subst" "0.00723009" "00006" "KIF1A_000047" "g.241663375G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240723958G>A" "" "likely benign" "" "0000047031" "0" "10" "2" "241664801" "241664801" "subst" "0.0385556" "00006" "KIF1A_000048" "g.241664801C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs2241683" "0" "" "" "g.240725384C>T" "" "benign" "" "0000047032" "0" "30" "2" "241727399" "241727399" "subst" "0" "00006" "KIF1A_000049" "g.241727399G>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240787982G>T" "" "likely benign" "" "0000047033" "0" "30" "2" "241721935" "241721935" "subst" "0" "00006" "KIF1A_000050" "g.241721935A>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs78169894" "0" "" "" "g.240782518A>G" "" "likely benign" "" "0000047034" "0" "10" "2" "241683312" "241683312" "subst" "0.0100764" "00006" "KIF1A_000051" "g.241683312G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240743895G>A" "" "benign" "" "0000047035" "0" "10" "2" "241689982" "241689982" "subst" "0.0137021" "00006" "KIF1A_000052" "g.241689982C>T" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240750565C>T" "" "benign" "" "0000047036" "0" "10" "2" "241713717" "241713717" "subst" "0.0196027" "00006" "KIF1A_000053" "g.241713717T>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240774300T>G" "" "benign" "" "0000047037" "0" "10" "2" "241706757" "241706757" "subst" "0.0195704" "00006" "KIF1A_000054" "g.241706757T>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs35663732" "0" "" "" "g.240767340T>C" "" "benign" "" "0000047038" "0" "10" "2" "241686636" "241686636" "subst" "0.0078878" "00006" "KIF1A_000055" "g.241686636G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240747219G>A" "" "benign" "" "0000047039" "0" "10" "2" "241685586" "241685586" "subst" "0.0470047" "00006" "KIF1A_000056" "g.241685586G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs73102625" "0" "" "" "g.240746169G>A" "" "benign" "" "0000047040" "0" "10" "2" "241689833" "241689833" "subst" "0.0209905" "00006" "KIF1A_000057" "g.241689833G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "" "0" "" "" "g.240750416G>A" "" "benign" "" "0000047041" "0" "10" "2" "241661192" "241661192" "subst" "0.0564019" "00006" "KIF1A_000058" "g.241661192G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs11901423" "0" "" "" "g.240721775G>A" "" "benign" "" "0000047042" "0" "10" "2" "241700676" "241700676" "subst" "0.0371939" "00006" "KIF1A_000059" "g.241700676G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs35945835" "0" "" "" "g.240761259G>A" "" "benign" "" "0000047043" "0" "10" "2" "241680802" "241680802" "subst" "0.348669" "00006" "KIF1A_000060" "g.241680802G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs56024577" "0" "" "" "g.240741385G>A" "" "benign" "" "0000047044" "0" "10" "2" "241722445" "241722445" "subst" "0.218869" "00006" "KIF1A_000061" "g.241722445G>A" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs2288750" "0" "" "" "g.240783028G>A" "" "benign" "" "0000047045" "0" "10" "2" "241680644" "241680644" "subst" "0.228229" "00006" "KIF1A_000062" "g.241680644G>C" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs1013225" "0" "" "" "g.240741227G>C" "" "benign" "" "0000047046" "0" "10" "2" "241713646" "241713646" "subst" "0.373585" "00006" "KIF1A_000063" "g.241713646A>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs1063353" "0" "" "" "g.240774229A>G" "" "benign" "" "0000047047" "0" "10" "2" "241726646" "241726646" "subst" "0.413018" "00006" "KIF1A_000064" "g.241726646A>G" "1/50 cases" "{PMID:Hamdan 2011:21376300}" "" "" "" "Germline" "" "rs2288746" "0" "" "" "g.240787229A>G" "" "benign" "" "0000063218" "1" "10" "2" "241663019" "241663019" "subst" "0.414726" "01164" "KIF1A_000068" "g.241663019C>T" "" "" "" "" "" "Germline" "" "rs2043252" "0" "" "" "g.240723602C>T" "" "benign" "" "0000063219" "1" "10" "2" "241680644" "241680644" "subst" "0.228229" "01164" "KIF1A_000062" "g.241680644G>C" "" "" "" "" "" "Germline" "" "rs1013225" "0" "" "" "g.240741227G>C" "" "benign" "" "0000063220" "1" "10" "2" "241713646" "241713646" "subst" "0.373585" "01164" "KIF1A_000063" "g.241713646A>G" "" "" "" "" "" "Germline" "" "rs1063353" "0" "" "" "g.240774229A>G" "" "benign" "" "0000063221" "1" "10" "2" "241666418" "241666418" "subst" "0" "01164" "KIF1A_000069" "g.241666418G>A" "" "" "" "" "" "Germline" "" "rs2060194" "0" "" "" "g.240727001G>A" "" "benign" "" "0000063222" "1" "10" "2" "241702561" "241702561" "subst" "0.531208" "01164" "KIF1A_000070" "g.241702561T>A" "" "" "" "" "" "Germline" "" "rs11688298" "0" "" "" "g.240763144T>A" "" "benign" "" "0000063223" "1" "50" "2" "241706651" "241706651" "subst" "0.00110662" "01164" "KIF1A_000066" "g.241706651C>A" "" "" "" "" "" "Germline" "" "rs189610137" "0" "" "" "g.240767234C>A" "" "VUS" "" "0000063224" "1" "10" "2" "241708675" "241708675" "subst" "0.286174" "01164" "KIF1A_000065" "g.241708675C>T" "" "" "" "" "" "Germline" "" "rs2288753" "0" "" "" "g.240769258C>T" "" "benign" "" "0000063225" "1" "10" "2" "241659368" "241659368" "subst" "0.776645" "01164" "KIF1A_000067" "g.241659368C>A" "" "" "" "" "" "Germline" "" "rs6437368" "0" "" "" "g.240719951C>A" "" "benign" "" "0000075855" "0" "70" "2" "241723193" "241723193" "subst" "0" "00111" "KIF1A_000071" "g.241723193C>T" "" "{PMID:Ohba 2015:26354034}" "" "" "" "De novo" "" "" "0" "" "" "g.240783776C>T" "" "likely pathogenic" "" "0000075856" "0" "70" "2" "241723194" "241723194" "subst" "0" "00111" "KIF1A_000072" "g.241723194G>A" "" "{PMID:Ohba 2015:26354034}" "" "" "" "De novo" "" "" "0" "" "" "g.240783777G>A" "" "likely pathogenic" "" "0000075857" "0" "70" "2" "241715306" "241715306" "subst" "0" "00111" "KIF1A_000073" "g.241715306C>T" "" "{PMID:Ohba 2015:26354034}" "" "" "" "De novo" "" "" "0" "" "" "g.240775889C>T" "" "likely pathogenic" "" "0000075858" "0" "70" "2" "241715280" "241715280" "subst" "0" "00111" "KIF1A_000074" "g.241715280G>A" "" "{PMID:Ohba 2015:26354034}" "" "" "" "De novo" "" "" "0" "" "" "g.240775863G>A" "" "likely pathogenic" "" "0000075859" "0" "70" "2" "241725916" "241725916" "subst" "0" "00111" "KIF1A_000075" "g.241725916C>A" "" "{PMID:Ohba 2015:26354034}" "" "" "" "De novo" "" "" "0" "" "" "g.240786499C>A" "" "likely pathogenic" "" "0000079345" "0" "90" "2" "241724480" "241724480" "subst" "0" "00006" "KIF1A_000076" "g.241724480G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.240785063G>A" "" "pathogenic" "" "0000084846" "0" "50" "2" "241727610" "241727610" "subst" "0" "01479" "KIF1A_000077" "g.241727610T>C" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.240788193T>C" "" "VUS" "" "0000084847" "0" "90" "2" "241702638" "241702638" "subst" "0" "01479" "KIF1A_000078" "g.241702638G>A" "" "{PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "" "Germline" "" "" "0" "" "" "g.240763221G>A" "" "pathogenic" "" "0000130175" "0" "70" "2" "241724479" "241724479" "subst" "0" "01758" "KIF1A_000079" "g.241724479C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.240785062C>T" "" "likely pathogenic" "ACMG" "0000174930" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174931" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174932" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174933" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174934" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174935" "21" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174936" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174937" "3" "90" "2" "241696754" "241696754" "del" "0" "00006" "KIF1A_000001" "g.241696754del" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240757337del" "" "pathogenic" "" "0000174938" "11" "90" "2" "241657530" "241657530" "dup" "0" "00006" "KIF1A_000002" "g.241657530dup" "" "{PMID:Riviere 2011:21820098}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240718113dup" "" "pathogenic" "" "0000245718" "0" "50" "2" "241683449" "241683449" "subst" "0.000385878" "02330" "KIF1A_000099" "g.241683449A>G" "" "" "" "KIF1A(NM_001244008.1):c.3494T>C (p.I1165T), KIF1A(NM_001244008.2):c.3494T>C (p.I1165T, p.(Ile1165Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240744032A>G" "" "VUS" "" "0000245844" "0" "10" "2" "241713646" "241713646" "subst" "0.373585" "02330" "KIF1A_000063" "g.241713646A>G" "" "" "" "KIF1A(NM_001244008.2):c.991T>C (p.L331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240774229A>G" "" "benign" "" "0000246008" "0" "50" "2" "241723204" "241723204" "subst" "0" "02330" "KIF1A_000135" "g.241723204A>T" "" "" "" "KIF1A(NM_001244008.2):c.750T>A (p.A250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240783787A>T" "" "VUS" "" "0000246042" "0" "50" "2" "241706689" "241706689" "subst" "8.15248E-6" "02330" "KIF1A_000128" "g.241706689A>G" "" "" "" "KIF1A(NM_001244008.2):c.1571T>C (p.I524T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240767272A>G" "" "VUS" "" "0000253543" "0" "10" "2" "241679524" "241679524" "subst" "0.00143868" "01943" "KIF1A_000096" "g.241679524A>G" "" "" "" "KIF1A(NM_001244008.1):c.3852T>C (p.H1284=), KIF1A(NM_001244008.2):c.3852T>C (p.H1284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240740107A>G" "" "benign" "" "0000255812" "0" "50" "2" "241683449" "241683449" "subst" "0.000385878" "01943" "KIF1A_000099" "g.241683449A>G" "" "" "" "KIF1A(NM_001244008.1):c.3494T>C (p.I1165T), KIF1A(NM_001244008.2):c.3494T>C (p.I1165T, p.(Ile1165Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240744032A>G" "" "VUS" "" "0000278527" "0" "30" "2" "241710381" "241710381" "subst" "0.000306992" "02330" "KIF1A_000025" "g.241710381C>A" "" "" "" "KIF1A(NM_001244008.1):c.1341+7G>T, KIF1A(NM_001244008.2):c.1341+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240770964C>A" "" "likely benign" "" "0000278528" "0" "10" "2" "241706757" "241706757" "subst" "0.0195704" "02330" "KIF1A_000054" "g.241706757T>C" "" "" "" "KIF1A(NM_001244008.2):c.1503A>G (p.P501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240767340T>C" "" "benign" "" "0000278529" "0" "50" "2" "241706353" "241706353" "subst" "0.000144506" "02330" "KIF1A_000127" "g.241706353C>T" "" "" "" "KIF1A(NM_001244008.1):c.1663G>A (p.D555N), KIF1A(NM_001244008.2):c.1663G>A (p.D555N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240766936C>T" "" "VUS" "" "0000278530" "0" "10" "2" "241728638" "241728638" "subst" "0.00412826" "02330" "KIF1A_000140" "g.241728638G>A" "" "" "" "KIF1A(NM_001244008.2):c.183+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240789221G>A" "" "benign" "" "0000278531" "0" "30" "2" "241702576" "241702576" "subst" "5.83781E-5" "02330" "KIF1A_000126" "g.241702576G>A" "" "" "" "KIF1A(NM_001244008.1):c.1949+7C>T (p.(=)), KIF1A(NM_001244008.2):c.1949+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240763159G>A" "" "likely benign" "" "0000278532" "0" "30" "2" "241702520" "241702520" "subst" "0" "02330" "KIF1A_000125" "g.241702520C>T" "" "" "" "KIF1A(NM_001244008.2):c.1950-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240763103C>T" "" "likely benign" "" "0000278533" "0" "30" "2" "241700814" "241700814" "subst" "0.000830887" "02330" "KIF1A_000124" "g.241700814G>A" "" "" "" "KIF1A(NM_001244008.1):c.2117-20C>T, KIF1A(NM_001244008.2):c.2117-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240761397G>A" "" "likely benign" "" "0000278534" "0" "10" "2" "241700676" "241700676" "subst" "0.0371939" "02330" "KIF1A_000059" "g.241700676G>A" "" "" "" "KIF1A(NM_001244008.2):c.2235C>T (p.A745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240761259G>A" "" "benign" "" "0000278535" "0" "10" "2" "241700280" "241700280" "subst" "0.0107557" "02330" "KIF1A_000123" "g.241700280C>T" "" "" "" "KIF1A(NM_001244008.2):c.2266-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240760863C>T" "" "benign" "" "0000278536" "0" "30" "2" "241700215" "241700215" "subst" "8.47127E-6" "02330" "KIF1A_000122" "g.241700215G>A" "" "" "" "KIF1A(NM_001244008.2):c.2311C>T (p.L771=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240760798G>A" "" "likely benign" "" "0000278537" "0" "10" "2" "241700141" "241700141" "subst" "0.0118673" "02330" "KIF1A_000119" "g.241700141G>A" "" "" "" "KIF1A(NM_001244008.2):c.2385C>T (p.A795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240760724G>A" "" "benign" "" "0000278538" "0" "30" "2" "241696900" "241696900" "subst" "0.000132408" "02330" "KIF1A_000115" "g.241696900G>A" "" "" "" "KIF1A(NM_001244008.2):c.2694C>T (p.T898=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757483G>A" "" "likely benign" "" "0000278539" "0" "10" "2" "241696868" "241696873" "del" "0" "02330" "KIF1A_000112" "g.241696868_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2748_2753del (p.(Glu916_Glu917del)), KIF1A(NM_001244008.1):c.2748_2753delGGAGGA (p.E916_E917del), KIF1A(NM_001244008.2):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757451_240757456del" "" "benign" "" "0000278540" "0" "10" "2" "241696871" "241696873" "del" "0" "02330" "KIF1A_000114" "g.241696871_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2745_2747del (p.(Glu917del)), KIF1A(NM_001244008.1):c.2751_2753delGGA (p.E917del), KIF1A(NM_001244008.2):c.2751_2753delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456del" "" "benign" "" "0000278543" "0" "10" "2" "241689982" "241689982" "subst" "0.0137021" "02330" "KIF1A_000052" "g.241689982C>T" "" "" "" "KIF1A(NM_001244008.2):c.2859-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240750565C>T" "" "benign" "" "0000278544" "0" "30" "2" "241689865" "241689865" "subst" "0.00203801" "02330" "KIF1A_000104" "g.241689865C>G" "" "" "" "KIF1A(NM_001244008.1):c.2958G>C (p.V986=), KIF1A(NM_001244008.2):c.2958G>C (p.V986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240750448C>G" "" "likely benign" "" "0000278545" "0" "10" "2" "241689833" "241689833" "subst" "0.0209905" "02330" "KIF1A_000057" "g.241689833G>A" "" "" "" "KIF1A(NM_001244008.1):c.2977+13C>T, KIF1A(NM_001244008.2):c.2977+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240750416G>A" "" "benign" "" "0000278546" "0" "10" "2" "241686737" "241686737" "subst" "0.00391103" "02330" "KIF1A_000020" "g.241686737G>A" "" "" "" "KIF1A(NM_001244008.1):c.2979C>T (p.A993=), KIF1A(NM_001244008.2):c.2979C>T (p.A993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240747320G>A" "" "benign" "" "0000278547" "0" "10" "2" "241686636" "241686636" "subst" "0.0078878" "02330" "KIF1A_000055" "g.241686636G>A" "" "" "" "KIF1A(NM_001244008.2):c.3063+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240747219G>A" "" "benign" "" "0000278548" "0" "10" "2" "241685586" "241685586" "subst" "0.0470047" "02330" "KIF1A_000056" "g.241685586G>A" "" "" "" "KIF1A(NM_001244008.2):c.3072C>T (p.S1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240746169G>A" "" "benign" "" "0000278549" "0" "30" "2" "241685573" "241685573" "subst" "0.00140034" "02330" "KIF1A_000103" "g.241685573C>T" "" "" "" "KIF1A(NM_001244008.1):c.3085G>A (p.V1029M), KIF1A(NM_001244008.2):c.3085G>A (p.V1029M), KIF1A(NM_004321.8):c.2782G>A (p.V928M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240746156C>T" "" "likely benign" "" "0000278550" "0" "30" "2" "241685283" "241685283" "subst" "0.000858045" "02330" "KIF1A_000033" "g.241685283G>A" "" "" "" "KIF1A(NM_001244008.1):c.3246C>T (p.A1082=), KIF1A(NM_001244008.2):c.3246C>T (p.A1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745866G>A" "" "likely benign" "" "0000278551" "0" "10" "2" "241685241" "241685241" "subst" "0" "02330" "KIF1A_000102" "g.241685241G>A" "" "" "" "KIF1A(NM_001244008.2):c.3288C>T (p.R1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745824G>A" "" "benign" "" "0000278552" "0" "10" "2" "241685184" "241685184" "subst" "0.00211885" "02330" "KIF1A_000101" "g.241685184G>C" "" "" "" "KIF1A(NM_001244008.1):c.3345C>G (p.A1115=), KIF1A(NM_001244008.2):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745767G>C" "" "benign" "" "0000278553" "0" "10" "2" "241684840" "241684840" "subst" "2.44628E-5" "02330" "KIF1A_000100" "g.241684840G>A" "" "" "" "KIF1A(NM_001244008.1):c.3465+4C>T, KIF1A(NM_001244008.2):c.3465+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745423G>A" "" "benign" "" "0000278554" "0" "10" "2" "241680802" "241680802" "subst" "0.348669" "02330" "KIF1A_000060" "g.241680802G>A" "" "" "" "KIF1A(NM_001244008.2):c.3641-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240741385G>A" "" "benign" "" "0000278555" "0" "50" "2" "241680754" "241680754" "subst" "0.000591116" "02330" "KIF1A_000098" "g.241680754C>T" "" "" "" "KIF1A(NM_001244008.1):c.3681G>A (p.P1227=), KIF1A(NM_001244008.2):c.3681G>A (p.P1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240741337C>T" "" "VUS" "" "0000278556" "0" "10" "2" "241663375" "241663375" "subst" "0.00723009" "02330" "KIF1A_000047" "g.241663375G>A" "" "" "" "KIF1A(NM_001244008.2):c.4318+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240723958G>A" "" "benign" "" "0000278557" "0" "10" "2" "241662983" "241662983" "subst" "0.0128428" "02330" "KIF1A_000093" "g.241662983G>A" "" "" "" "KIF1A(NM_001244008.2):c.4319-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240723566G>A" "" "benign" "" "0000278558" "0" "30" "2" "241661934" "241661934" "subst" "0.00380752" "02330" "KIF1A_000039" "g.241661934G>A" "" "" "" "KIF1A(NM_001244008.2):c.4604C>T (p.A1535V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240722517G>A" "" "likely benign" "" "0000278559" "0" "10" "2" "241660450" "241660450" "subst" "0.000507593" "02330" "KIF1A_000088" "g.241660450G>A" "" "" "" "KIF1A(NM_001244008.1):c.4749C>T (p.S1583=), KIF1A(NM_001244008.2):c.4749C>T (p.S1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240721033G>A" "" "benign" "" "0000278560" "0" "10" "2" "241660387" "241660387" "subst" "0.00353509" "02330" "KIF1A_000038" "g.241660387G>T" "" "" "" "KIF1A(NM_001244008.1):c.4812C>A (p.T1604=), KIF1A(NM_001244008.2):c.4812C>A (p.T1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240720970G>T" "" "benign" "" "0000278561" "0" "30" "2" "241660378" "241660378" "subst" "5.71398E-5" "02330" "KIF1A_000085" "g.241660378G>A" "" "" "" "KIF1A(NM_001244008.2):c.4821C>T (p.S1607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240720961G>A" "" "likely benign" "" "0000278562" "0" "10" "2" "241659175" "241659175" "subst" "0.00268726" "02330" "KIF1A_000010" "g.241659175G>A" "" "" "" "KIF1A(NM_001244008.2):c.5021+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719758G>A" "" "benign" "" "0000278563" "0" "50" "2" "241658482" "241658482" "subst" "0.000321735" "02330" "KIF1A_000081" "g.241658482C>T" "" "" "" "KIF1A(NM_001244008.2):c.5155G>A (p.V1719M), KIF1A(NM_004321.8):c.4852G>A (p.V1618M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719065C>T" "" "VUS" "" "0000278564" "0" "10" "2" "241722445" "241722445" "subst" "0.218869" "02330" "KIF1A_000061" "g.241722445G>A" "" "" "" "KIF1A(NM_001244008.2):c.864+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240783028G>A" "" "benign" "" "0000278565" "0" "10" "2" "241722045" "241722048" "del" "0" "02330" "KIF1A_000133" "g.241722045_241722048del" "" "" "" "KIF1A(NM_001244008.2):c.865-20_865-17delCTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240782628_240782631del" "" "benign" "" "0000281788" "0" "10" "2" "241696871" "241696873" "del" "0" "02325" "KIF1A_000110" "g.241696871_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2745_2747del (p.(Glu917del)), KIF1A(NM_001244008.1):c.2751_2753delGGA (p.E917del), KIF1A(NM_001244008.2):c.2751_2753delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456del" "" "benign" "" "0000281789" "0" "30" "2" "241685184" "241685184" "subst" "0.00211885" "02325" "KIF1A_000101" "g.241685184G>C" "" "" "" "KIF1A(NM_001244008.1):c.3345C>G (p.A1115=), KIF1A(NM_001244008.2):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745767G>C" "" "likely benign" "" "0000281790" "0" "10" "2" "241680802" "241680802" "subst" "0.348669" "02325" "KIF1A_000060" "g.241680802G>A" "" "" "" "KIF1A(NM_001244008.2):c.3641-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240741385G>A" "" "benign" "" "0000281791" "0" "10" "2" "241679488" "241679488" "subst" "0.00228652" "02325" "KIF1A_000041" "g.241679488G>A" "" "" "" "KIF1A(NM_001244008.1):c.3888C>T (p.R1296=), KIF1A(NM_001244008.2):c.3888C>T (p.(Arg1296=), p.R1296=), KIF1A(NM_001379631.1):c.3963C>T (p.R1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240740071G>A" "" "benign" "" "0000281792" "0" "30" "2" "241659323" "241659323" "subst" "0.00261756" "02325" "KIF1A_000084" "g.241659323C>T" "" "" "" "KIF1A(NM_001244008.1):c.4889G>A (p.(Arg1630Gln)), KIF1A(NM_001244008.2):c.4889G>A (p.R1630Q), KIF1A(NM_004321.8):c.4586G>A (p.R1529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719906C>T" "" "likely benign" "" "0000285799" "0" "30" "2" "241700814" "241700814" "subst" "0.000830887" "02326" "KIF1A_000124" "g.241700814G>A" "" "" "" "KIF1A(NM_001244008.1):c.2117-20C>T, KIF1A(NM_001244008.2):c.2117-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240761397G>A" "" "likely benign" "" "0000285800" "0" "30" "2" "241697866" "241697866" "subst" "0.000310742" "02326" "KIF1A_000118" "g.241697866C>A" "" "" "" "KIF1A(NM_001244008.1):c.2493G>T (p.V831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240758449C>A" "" "likely benign" "" "0000285801" "0" "50" "2" "241696966" "241696966" "subst" "0" "02326" "KIF1A_000117" "g.241696966G>C" "" "" "" "KIF1A(NM_001244008.1):c.2628C>G (p.C876W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757549G>C" "" "VUS" "" "0000285802" "0" "10" "2" "241696868" "241696873" "del" "0" "02326" "KIF1A_000112" "g.241696868_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2748_2753del (p.(Glu916_Glu917del)), KIF1A(NM_001244008.1):c.2748_2753delGGAGGA (p.E916_E917del), KIF1A(NM_001244008.2):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757451_240757456del" "" "benign" "" "0000285803" "0" "10" "2" "241696871" "241696873" "del" "0" "02326" "KIF1A_000110" "g.241696871_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2745_2747del (p.(Glu917del)), KIF1A(NM_001244008.1):c.2751_2753delGGA (p.E917del), KIF1A(NM_001244008.2):c.2751_2753delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456del" "" "benign" "" "0000285805" "0" "10" "2" "241689833" "241689833" "subst" "0.0209905" "02326" "KIF1A_000057" "g.241689833G>A" "" "" "" "KIF1A(NM_001244008.1):c.2977+13C>T, KIF1A(NM_001244008.2):c.2977+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240750416G>A" "" "benign" "" "0000285806" "0" "30" "2" "241658469" "241658469" "subst" "0.000281087" "02326" "KIF1A_000080" "g.241658469G>A" "" "" "" "KIF1A(NM_001244008.1):c.5168C>T (p.A1723V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719052G>A" "" "likely benign" "" "0000290263" "0" "30" "2" "241712544" "241712544" "subst" "4.91985E-5" "01943" "KIF1A_000131" "g.241712544G>A" "" "" "" "KIF1A(NM_001244008.1):c.1167C>T (p.G389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240773127G>A" "" "likely benign" "" "0000290264" "0" "30" "2" "241710381" "241710381" "subst" "0.000306992" "01943" "KIF1A_000025" "g.241710381C>A" "" "" "" "KIF1A(NM_001244008.1):c.1341+7G>T, KIF1A(NM_001244008.2):c.1341+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240770964C>A" "" "likely benign" "" "0000290265" "0" "30" "2" "241702576" "241702576" "subst" "5.83781E-5" "01943" "KIF1A_000126" "g.241702576G>A" "" "" "" "KIF1A(NM_001244008.1):c.1949+7C>T (p.(=)), KIF1A(NM_001244008.2):c.1949+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240763159G>A" "" "likely benign" "" "0000290266" "0" "30" "2" "241727627" "241727627" "subst" "0.00290137" "01943" "KIF1A_000045" "g.241727627C>A" "" "" "" "KIF1A(NM_001244008.1):c.204G>T (p.A68=), KIF1A(NM_001244008.2):c.204G>T (p.A68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240788210C>A" "" "likely benign" "" "0000290267" "0" "30" "2" "241700207" "241700207" "subst" "1.69069E-5" "01943" "KIF1A_000121" "g.241700207G>A" "" "" "" "KIF1A(NM_001244008.1):c.2319C>T (p.P773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240760790G>A" "" "likely benign" "" "0000290268" "0" "30" "2" "241696915" "241696915" "subst" "5.57165E-5" "01943" "KIF1A_000116" "g.241696915G>A" "" "" "" "KIF1A(NM_001244008.1):c.2679C>T (p.P893=), KIF1A(NM_001244008.2):c.2679C>T (p.P893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757498G>A" "" "likely benign" "" "0000290269" "0" "10" "2" "241696868" "241696873" "del" "0" "01943" "KIF1A_000112" "g.241696868_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2748_2753del (p.(Glu916_Glu917del)), KIF1A(NM_001244008.1):c.2748_2753delGGAGGA (p.E916_E917del), KIF1A(NM_001244008.2):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757451_240757456del" "" "benign" "" "0000290270" "0" "10" "2" "241696871" "241696873" "del" "0" "01943" "KIF1A_000110" "g.241696871_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2745_2747del (p.(Glu917del)), KIF1A(NM_001244008.1):c.2751_2753delGGA (p.E917del), KIF1A(NM_001244008.2):c.2751_2753delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456del" "" "benign" "" "0000290273" "0" "30" "2" "241689865" "241689865" "subst" "0.00203801" "01943" "KIF1A_000104" "g.241689865C>G" "" "" "" "KIF1A(NM_001244008.1):c.2958G>C (p.V986=), KIF1A(NM_001244008.2):c.2958G>C (p.V986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240750448C>G" "" "likely benign" "" "0000290274" "0" "70" "2" "241727527" "241727527" "subst" "0" "01943" "KIF1A_000138" "g.241727527C>T" "" "" "" "KIF1A(NM_001244008.1):c.304G>A (p.G102S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240788110C>T" "" "likely pathogenic" "" "0000290275" "0" "50" "2" "241685573" "241685573" "subst" "0.00140034" "01943" "KIF1A_000103" "g.241685573C>T" "" "" "" "KIF1A(NM_001244008.1):c.3085G>A (p.V1029M), KIF1A(NM_001244008.2):c.3085G>A (p.V1029M), KIF1A(NM_004321.8):c.2782G>A (p.V928M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240746156C>T" "" "VUS" "" "0000290276" "0" "50" "2" "241737139" "241737139" "subst" "0" "01943" "KIF1A_000141" "g.241737139G>A" "" "" "" "KIF1A(NM_001244008.1):c.31C>T (p.R11W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240797722G>A" "" "VUS" "" "0000290277" "0" "30" "2" "241685283" "241685283" "subst" "0.000858045" "01943" "KIF1A_000033" "g.241685283G>A" "" "" "" "KIF1A(NM_001244008.1):c.3246C>T (p.A1082=), KIF1A(NM_001244008.2):c.3246C>T (p.A1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745866G>A" "" "likely benign" "" "0000290278" "0" "30" "2" "241685270" "241685270" "subst" "0.00369162" "01943" "KIF1A_000043" "g.241685270G>A" "" "" "" "KIF1A(NM_001244008.1):c.3259C>T (p.P1087S, p.(Pro1087Ser)), KIF1A(NM_001244008.2):c.3259C>T (p.P1087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745853G>A" "" "likely benign" "" "0000290279" "0" "30" "2" "241685199" "241685199" "subst" "0.000545292" "01943" "KIF1A_000005" "g.241685199C>T" "" "" "" "KIF1A(NM_001244008.1):c.3330G>A (p.A1110=), KIF1A(NM_001244008.2):c.3330G>A (p.A1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745782C>T" "" "likely benign" "" "0000290280" "0" "30" "2" "241685184" "241685184" "subst" "0.00211885" "01943" "KIF1A_000101" "g.241685184G>C" "" "" "" "KIF1A(NM_001244008.1):c.3345C>G (p.A1115=), KIF1A(NM_001244008.2):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240745767G>C" "" "likely benign" "" "0000290281" "0" "50" "2" "241679756" "241679756" "subst" "8.1418E-6" "01943" "KIF1A_000097" "g.241679756G>A" "" "" "" "KIF1A(NM_001244008.1):c.3775C>T (p.R1259C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240740339G>A" "" "VUS" "" "0000290282" "0" "30" "2" "241676509" "241676509" "subst" "4.06111E-6" "01943" "KIF1A_000095" "g.241676509G>A" "" "" "" "KIF1A(NM_001244008.1):c.3978C>T (p.S1326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240737092G>A" "" "likely benign" "" "0000290283" "0" "50" "2" "241664736" "241664736" "subst" "2.07156E-5" "01943" "KIF1A_000094" "g.241664736C>T" "" "" "" "KIF1A(NM_001244008.1):c.4208G>A (p.R1403H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240725319C>T" "" "VUS" "" "0000290284" "0" "30" "2" "241662083" "241662083" "subst" "4.31146E-5" "01943" "KIF1A_000092" "g.241662083G>A" "" "" "" "KIF1A(NM_001244008.1):c.4465-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240722666G>A" "" "likely benign" "" "0000290285" "0" "50" "2" "241662027" "241662027" "subst" "5.65087E-5" "01943" "KIF1A_000012" "g.241662027G>A" "" "" "" "KIF1A(NM_001244008.1):c.4511C>T (p.T1504I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240722610G>A" "" "VUS" "" "0000290286" "0" "50" "2" "241661926" "241661926" "subst" "0.000557759" "01943" "KIF1A_000091" "g.241661926G>A" "" "" "" "KIF1A(NM_001244008.1):c.4612C>T (p.R1538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240722509G>A" "" "VUS" "" "0000290287" "0" "30" "2" "241660450" "241660450" "subst" "0.000507593" "01943" "KIF1A_000088" "g.241660450G>A" "" "" "" "KIF1A(NM_001244008.1):c.4749C>T (p.S1583=), KIF1A(NM_001244008.2):c.4749C>T (p.S1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240721033G>A" "" "likely benign" "" "0000290288" "0" "50" "2" "241660428" "241660428" "subst" "0.000144889" "01943" "KIF1A_000087" "g.241660428G>A" "" "" "" "KIF1A(NM_001244008.1):c.4771C>T (p.R1591W), KIF1A(NM_001244008.2):c.4771C>T (p.R1591W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240721011G>A" "" "VUS" "" "0000290289" "0" "30" "2" "241660409" "241660409" "subst" "5.42164E-5" "01943" "KIF1A_000086" "g.241660409G>A" "" "" "" "KIF1A(NM_001244008.1):c.4790C>T (p.P1597L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240720992G>A" "" "likely benign" "" "0000290290" "0" "30" "2" "241659289" "241659289" "subst" "4.10176E-6" "01943" "KIF1A_000083" "g.241659289C>G" "" "" "" "KIF1A(NM_001244008.1):c.4923G>C (p.E1641D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719872C>G" "" "likely benign" "" "0000290291" "0" "30" "2" "241659274" "241659274" "subst" "8.20291E-6" "01943" "KIF1A_000082" "g.241659274C>T" "" "" "" "KIF1A(NM_001244008.1):c.4938G>A (p.K1646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719857C>T" "" "likely benign" "" "0000290292" "0" "50" "2" "241725798" "241725800" "del" "0" "01943" "KIF1A_000137" "g.241725798_241725800del" "" "" "" "KIF1A(NM_001244008.1):c.563_565delCCT (p.S188del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240786381_240786383del" "" "VUS" "" "0000290293" "0" "30" "2" "241725781" "241725781" "subst" "0" "01943" "KIF1A_000136" "g.241725781C>T" "" "" "" "KIF1A(NM_001244008.1):c.579G>A (p.Q193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240786364C>T" "" "likely benign" "" "0000290294" "0" "90" "2" "241723155" "241723155" "subst" "0" "01943" "KIF1A_000134" "g.241723155C>T" "" "" "" "KIF1A(NM_001244008.1):c.798+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240783738C>T" "" "pathogenic" "" "0000328248" "0" "30" "2" "241696840" "241696840" "subst" "0" "01804" "KIF1A_000108" "g.241696840A>C" "" "" "" "KIF1A(NM_001244008.1):c.2754T>G (p.(Asp918Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757423A>C" "" "likely benign" "" "0000328249" "0" "50" "2" "241696871" "241696873" "dup" "0" "01804" "KIF1A_000109" "g.241696871_241696873dup" "" "" "" "KIF1A(NM_001244008.1):c.2748_2750dup (p.(Glu917dup)), KIF1A(NM_001244008.1):c.2751_2753dupGGA (p.E917dup), KIF1A(NM_001244008.2):c.2751_2753dupGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456dup" "" "VUS" "" "0000328252" "0" "50" "2" "241696868" "241696873" "del" "0" "01804" "KIF1A_000112" "g.241696868_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2748_2753del (p.(Glu916_Glu917del)), KIF1A(NM_001244008.1):c.2748_2753delGGAGGA (p.E916_E917del), KIF1A(NM_001244008.2):c.2..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757451_240757456del" "" "VUS" "" "0000328253" "0" "50" "2" "241696871" "241696873" "del" "0" "01804" "KIF1A_000114" "g.241696871_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2745_2747del (p.(Glu917del)), KIF1A(NM_001244008.1):c.2751_2753delGGA (p.E917del), KIF1A(NM_001244008.2):c.2751_2753delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456del" "" "VUS" "" "0000328256" "0" "50" "2" "241700169" "241700169" "subst" "3.85975E-5" "01804" "KIF1A_000120" "g.241700169G>A" "" "" "" "KIF1A(NM_001244008.1):c.2357C>T (p.(Thr786Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240760752G>A" "" "VUS" "" "0000328257" "0" "50" "2" "241706713" "241706713" "del" "0" "01804" "KIF1A_000129" "g.241706713del" "" "" "" "KIF1A(NM_001244008.1):c.1547delT (p.(Leu516ArgfsTer25))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240767296del" "" "VUS" "" "0000328258" "0" "50" "2" "241710398" "241710398" "del" "0" "01804" "KIF1A_000130" "g.241710398del" "" "" "" "KIF1A(NM_001244008.1):c.1333del (p.(Arg445AspfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240770981del" "" "VUS" "" "0000328259" "0" "30" "2" "241727629" "241727629" "subst" "2.84863E-5" "01804" "KIF1A_000139" "g.241727629C>T" "" "" "" "KIF1A(NM_001244008.1):c.202G>A (p.(Ala68Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240788212C>T" "" "likely benign" "" "0000336338" "0" "70" "2" "241715279" "241715279" "subst" "0" "01807" "KIF1A_000132" "g.241715279C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.240775862C>T" "" "likely pathogenic" "" "0000337607" "0" "10" "2" "241680802" "241680802" "subst" "0.348669" "02327" "KIF1A_000060" "g.241680802G>A" "" "" "" "KIF1A(NM_001244008.2):c.3641-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240741385G>A" "" "benign" "" "0000337609" "0" "10" "2" "241689833" "241689833" "subst" "0.0209905" "02327" "KIF1A_000057" "g.241689833G>A" "" "" "" "KIF1A(NM_001244008.1):c.2977+13C>T, KIF1A(NM_001244008.2):c.2977+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240750416G>A" "" "benign" "" "0000337610" "0" "10" "2" "241722445" "241722445" "subst" "0.218869" "02327" "KIF1A_000061" "g.241722445G>A" "" "" "" "KIF1A(NM_001244008.2):c.864+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240783028G>A" "" "benign" "" "0000340850" "0" "10" "2" "241713646" "241713646" "subst" "0.373585" "02327" "KIF1A_000063" "g.241713646A>G" "" "" "" "KIF1A(NM_001244008.2):c.991T>C (p.L331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240774229A>G" "" "benign" "" "0000340990" "0" "10" "2" "241660387" "241660387" "subst" "0.00353509" "02327" "KIF1A_000038" "g.241660387G>T" "" "" "" "KIF1A(NM_001244008.1):c.4812C>A (p.T1604=), KIF1A(NM_001244008.2):c.4812C>A (p.T1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240720970G>T" "" "benign" "" "0000341557" "0" "50" "2" "241727628" "241727628" "subst" "2.0346E-5" "02327" "KIF1A_000158" "g.241727628G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240788211G>A" "" "VUS" "" "0000341904" "0" "90" "2" "241737133" "241737133" "subst" "0" "02327" "KIF1A_000160" "g.241737133G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240797716G>A" "" "pathogenic" "" "0000341929" "0" "50" "2" "241662960" "241662960" "subst" "0" "02327" "KIF1A_000146" "g.241662960C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240723543C>T" "" "VUS" "" "0000342047" "0" "90" "2" "241725861" "241725861" "subst" "0" "02327" "KIF1A_000156" "g.241725861G>A" "" "" "" "KIF1A(NM_001244008.2):c.499C>T (p.R167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240786444G>A" "" "pathogenic" "" "0000342097" "0" "50" "2" "241656788" "241656788" "subst" "8.26009E-6" "02327" "KIF1A_000142" "g.241656788C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240717371C>T" "" "VUS" "" "0000342617" "0" "90" "2" "241715280" "241715280" "subst" "0" "02327" "KIF1A_000074" "g.241715280G>A" "" "" "" "KIF1A(NM_004321.8):c.946C>T (p.R316W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240775863G>A" "" "pathogenic" "" "0000342703" "0" "50" "2" "241712663" "241712663" "subst" "0" "02327" "KIF1A_000151" "g.241712663G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240773246G>A" "" "VUS" "" "0000342774" "0" "70" "2" "241712573" "241712573" "subst" "8.12869E-6" "02327" "KIF1A_000150" "g.241712573G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240773156G>A" "" "likely pathogenic" "" "0000343650" "0" "70" "2" "241724493" "241724493" "subst" "0" "02327" "KIF1A_000155" "g.241724493A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240785076A>T" "" "likely pathogenic" "" "0000344922" "0" "50" "2" "241702638" "241702638" "subst" "0" "02327" "KIF1A_000078" "g.241702638G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240763221G>A" "" "VUS" "" "0000345518" "0" "30" "2" "241702163" "241702163" "subst" "3.33014E-5" "02327" "KIF1A_000149" "g.241702163C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240762746C>T" "" "likely benign" "" "0000348868" "0" "50" "2" "241723198" "241723198" "subst" "0" "02327" "KIF1A_000154" "g.241723198G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240783781G>C" "" "VUS" "" "0000349110" "0" "90" "2" "241728663" "241728663" "subst" "0" "02327" "KIF1A_000159" "g.241728663G>A" "" "" "" "KIF1A(NM_001244008.2):c.173C>T (p.S58L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240789246G>A" "" "pathogenic" "" "0000349461" "0" "50" "2" "241713615" "241713615" "subst" "0" "02327" "KIF1A_000152" "g.241713615G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240774198G>A" "" "VUS" "" "0000349915" "0" "50" "2" "241663432" "241663432" "subst" "0" "02327" "KIF1A_000147" "g.241663432G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240724015G>C" "" "VUS" "" "0000350345" "0" "50" "2" "241658494" "241658494" "subst" "2.0357E-5" "02327" "KIF1A_000144" "g.241658494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719077C>T" "" "VUS" "" "0000351070" "0" "50" "2" "241658418" "241658418" "subst" "4.12729E-6" "02327" "KIF1A_000143" "g.241658418C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240719001C>T" "" "VUS" "" "0000351071" "0" "10" "2" "241696871" "241696873" "del" "0" "02327" "KIF1A_000110" "g.241696871_241696873del" "" "" "" "KIF1A(NM_001244008.1):c.2745_2747del (p.(Glu917del)), KIF1A(NM_001244008.1):c.2751_2753delGGA (p.E917del), KIF1A(NM_001244008.2):c.2751_2753delGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240757454_240757456del" "" "benign" "" "0000351072" "0" "50" "2" "241727612" "241727612" "subst" "0" "02327" "KIF1A_000157" "g.241727612C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.240788195C>T" "" "VUS" "" "0000368380" "0" "70" "2" "241715312" "241715312" "subst" "0" "01807" "KIF1A_000161" "g.241715312G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.240775895G>A" "" "likely pathogenic" "" "0000440889" "0" "90" "2" "241715306" "241715306" "subst" "0" "01807" "KIF1A_000073" "g.241715306C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.240775889C>T" "" "pathogenic" "" "0000442478" "0" "50" "2" "241697865" "241697865" "subst" "3.31917E-5" "01164" "KIF1A_000163" "g.241697865G>A" "" "" "" "" "" "Germline" "" "rs757726053" "0" "" "" "g.240758448G>A" "" "VUS" "ACMG" "0000442705" "0" "50" "2" "241680732" "241680732" "subst" "0.0001058" "01164" "KIF1A_000162" "g.241680732C>T" "" "" "" "" "" "Germline" "" "rs200257048" "0" "" "" "g.240741315C>T" "" "VUS" "ACMG" "0000459005" "0" "70" "2" "241737081" "241737081" "subst" "0" "03208" "KIF1A_000164" "g.241737081A>G" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.240797664A>G" "" "VUS" "" "0000459007" "0" "70" "2" "241728669" "241728669" "subst" "0" "03208" "KIF1A_000165" "g.241728669T>C" "Pennings et al, submitted 2019" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.240789252T>C" "" "VUS" "" "0000459009" "21" "70" "2" "241727610" "241727610" "subst" "0" "03208" "KIF1A_000077" "g.241727610T>C" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline" "" "" "0" "" "" "g.240788193T>C" "" "VUS" "" "0000459010" "0" "70" "2" "241727599" "241727599" "subst" "0" "03208" "KIF1A_000169" "g.241727599C>T" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "De novo" "" "" "0" "" "" "g.240788182C>T" "" "VUS" "" "0000459011" "0" "70" "2" "241727514" "241727514" "subst" "0" "03208" "KIF1A_000168" "g.241727514G>T" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "De novo" "yes" "" "0" "" "" "g.240788097G>T" "" "likely pathogenic" "" "0000459012" "0" "70" "2" "241725860" "241725860" "subst" "0" "03208" "KIF1A_000167" "g.241725860C>T" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240786443C>T" "" "likely pathogenic" "" "0000459013" "0" "70" "2" "241725842" "241725842" "subst" "0" "03208" "KIF1A_000166" "g.241725842A>G" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.240786425A>G" "" "likely pathogenic" "" "0000459014" "0" "70" "2" "241723198" "241723198" "subst" "0" "03208" "KIF1A_000154" "g.241723198G>C" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.240783781G>C" "" "VUS" "" "0000459030" "21" "70" "2" "241723181" "241723181" "subst" "0" "03208" "KIF1A_000170" "g.241723181G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.240783764G>A" "" "VUS" "" "0000459031" "0" "70" "2" "241712663" "241712663" "subst" "0" "03208" "KIF1A_000151" "g.241712663G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.240773246G>A" "" "VUS" "" "0000459032" "21" "70" "2" "241709059" "241709059" "subst" "0" "03208" "KIF1A_000174" "g.241709059G>C" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240769642G>C" "" "VUS" "" "0000459033" "0" "70" "2" "241702638" "241702638" "subst" "0" "03208" "KIF1A_000078" "g.241702638G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.240763221G>A" "" "VUS" "" "0000459034" "0" "70" "2" "241697805" "241697805" "subst" "4.09437E-6" "03208" "KIF1A_000148" "g.241697805G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240758388G>A" "" "VUS" "" "0000459035" "0" "70" "2" "241689943" "241689943" "subst" "0" "03208" "KIF1A_000173" "g.241689943G>T" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240750526G>T" "" "VUS" "" "0000459036" "0" "70" "2" "241663432" "241663432" "subst" "0" "03208" "KIF1A_000147" "g.241663432G>C" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240724015G>C" "" "VUS" "" "0000459037" "0" "70" "2" "241661946" "241661946" "del" "0" "03208" "KIF1A_000172" "g.241661946del" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.240722529del" "" "VUS" "" "0000459038" "0" "70" "2" "241658597" "241658597" "dup" "0" "03208" "KIF1A_000171" "g.241658597dup" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.240719180dup" "" "VUS" "" "0000459039" "0" "70" "2" "241661946" "241661946" "del" "0" "03208" "KIF1A_000172" "g.241661946del" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240722529del" "" "VUS" "" "0000498905" "0" "70" "2" "241653181" "241759725" "del" "0" "03208" "KIF1A_000175" "g.(?_241653181)_(241759725_?)del" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000499790" "21" "70" "2" "241727625" "241727625" "subst" "0" "03208" "KIF1A_000176" "g.241727625G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240788208G>A" "" "VUS" "" "0000500686" "0" "70" "2" "241723198" "241723198" "subst" "0" "03208" "KIF1A_000154" "g.241723198G>C" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.240783781G>C" "" "VUS" "" "0000500687" "0" "70" "2" "241723181" "241723181" "subst" "0" "03208" "KIF1A_000170" "g.241723181G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "De novo" "yes" "" "0" "" "" "g.240783764G>A" "" "VUS" "" "0000500688" "0" "70" "2" "241723181" "241723181" "subst" "0" "03208" "KIF1A_000170" "g.241723181G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "De novo" "yes" "" "0" "" "" "g.240783764G>A" "" "VUS" "" "0000500689" "0" "70" "2" "241697805" "241697805" "subst" "4.09437E-6" "03208" "KIF1A_000148" "g.241697805G>A" "" "{PMID:Pennings 2019:31488895}, {DOI:Pennings 2019:10.1038/s41431-019-0497-z}" "" "" "" "Germline" "yes" "" "0" "" "" "g.240758388G>A" "" "VUS" "" "0000515312" "0" "30" "2" "241656788" "241656788" "subst" "0" "01804" "KIF1A_000177" "g.241656788C>G" "" "" "" "KIF1A(NM_001244008.1):c.5369G>C (p.(Arg1790Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240717371C>G" "" "likely benign" "" "0000515313" "0" "30" "2" "241657516" "241657516" "subst" "0" "01943" "KIF1A_000178" "g.241657516T>C" "" "" "" "KIF1A(NM_001244008.1):c.5284A>G (p.M1762V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240718099T>C" "" "likely benign" "" "0000515314" "0" "30" "2" "241657568" "241657568" "subst" "6.94499E-5" "01943" "KIF1A_000179" "g.241657568C>T" "" "" "" "KIF1A(NM_001244008.1):c.5232G>A (p.A1744=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240718151C>T" "" "likely benign" "" "0000515315" "0" "30" "2" "241658426" "241658426" "subst" "4.10475E-6" "02330" "KIF1A_000180" "g.241658426G>C" "" "" "" "KIF1A(NM_001244008.2):c.5211C>G (p.L1737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719009G>C" "" "likely benign" "" "0000515316" "0" "30" "2" "241658567" "241658567" "subst" "0.000167339" "02330" "KIF1A_000181" "g.241658567C>T" "" "" "" "KIF1A(NM_001244008.2):c.5070G>A (p.T1690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719150C>T" "" "likely benign" "" "0000515317" "0" "30" "2" "241659214" "241659214" "subst" "5.63024E-5" "01943" "KIF1A_000182" "g.241659214A>G" "" "" "" "KIF1A(NM_001244008.1):c.4998T>C (p.P1666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719797A>G" "" "likely benign" "" "0000515318" "0" "30" "2" "241659286" "241659286" "subst" "4.10196E-5" "02330" "KIF1A_000183" "g.241659286G>A" "" "" "" "KIF1A(NM_001244008.1):c.4926C>T (p.A1642=), KIF1A(NM_001244008.2):c.4926C>T (p.A1642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719869G>A" "" "likely benign" "" "0000515320" "0" "50" "2" "241659314" "241659314" "subst" "0" "02330" "KIF1A_000185" "g.241659314C>A" "" "" "" "KIF1A(NM_001244008.2):c.4898G>T (p.S1633I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719897C>A" "" "VUS" "" "0000515321" "0" "50" "2" "241659338" "241659338" "subst" "2.51269E-5" "02325" "KIF1A_000186" "g.241659338G>A" "" "" "" "KIF1A(NM_001244008.2):c.4874C>T (p.P1625L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719921G>A" "" "VUS" "" "0000515322" "0" "10" "2" "241660387" "241660387" "subst" "0.00353509" "01943" "KIF1A_000038" "g.241660387G>T" "" "" "" "KIF1A(NM_001244008.1):c.4812C>A (p.T1604=), KIF1A(NM_001244008.2):c.4812C>A (p.T1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240720970G>T" "" "benign" "" "0000515323" "0" "50" "2" "241660389" "241660389" "subst" "0" "01804" "KIF1A_000187" "g.241660389T>C" "" "" "" "KIF1A(NM_004321.6):c.4507A>G (p.(Thr1503Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240720972T>C" "" "VUS" "" "0000515324" "0" "50" "2" "241660428" "241660428" "subst" "0.000144889" "02330" "KIF1A_000087" "g.241660428G>A" "" "" "" "KIF1A(NM_001244008.1):c.4771C>T (p.R1591W), KIF1A(NM_001244008.2):c.4771C>T (p.R1591W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240721011G>A" "" "VUS" "" "0000515325" "0" "30" "2" "241661251" "241661251" "subst" "2.09165E-5" "01943" "KIF1A_000188" "g.241661251G>A" "" "" "" "KIF1A(NM_001244008.1):c.4716C>T (p.H1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240721834G>A" "" "likely benign" "" "0000515326" "0" "30" "2" "241661306" "241661306" "subst" "3.87017E-5" "01943" "KIF1A_000089" "g.241661306G>A" "" "" "" "KIF1A(NM_001244008.1):c.4666-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240721889G>A" "" "likely benign" "" "0000515327" "0" "10" "2" "241661319" "241661319" "subst" "0.00840935" "02330" "KIF1A_000046" "g.241661319G>A" "" "" "" "KIF1A(NM_001244008.2):c.4666-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240721902G>A" "" "benign" "" "0000515328" "0" "70" "2" "241661946" "241661946" "del" "0" "02327" "KIF1A_000172" "g.241661946del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240722529del" "" "likely pathogenic" "" "0000515329" "0" "30" "2" "241661964" "241661964" "subst" "0" "01943" "KIF1A_000189" "g.241661964C>G" "" "" "" "KIF1A(NM_001244008.1):c.4574G>C (p.G1525A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240722547C>G" "" "likely benign" "" "0000515330" "0" "30" "2" "241662017" "241662017" "subst" "0" "01943" "KIF1A_000190" "g.241662017C>A" "" "" "" "KIF1A(NM_001244008.1):c.4521G>T (p.R1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240722600C>A" "" "likely benign" "" "0000515332" "0" "50" "2" "241664787" "241664787" "subst" "0" "01943" "KIF1A_000191" "g.241664787T>C" "" "" "" "KIF1A(NM_001244008.1):c.4157A>G (p.K1386R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240725370T>C" "" "VUS" "" "0000515333" "0" "10" "2" "241679464" "241679464" "subst" "0.012936" "02330" "KIF1A_000040" "g.241679464A>G" "" "" "" "KIF1A(NM_001244008.2):c.3901+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240740047A>G" "" "benign" "" "0000515334" "0" "30" "2" "241679488" "241679488" "subst" "0.00228652" "01943" "KIF1A_000041" "g.241679488G>A" "" "" "" "KIF1A(NM_001244008.1):c.3888C>T (p.R1296=), KIF1A(NM_001244008.2):c.3888C>T (p.(Arg1296=), p.R1296=), KIF1A(NM_001379631.1):c.3963C>T (p.R1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240740071G>A" "" "likely benign" "" "0000515335" "0" "50" "2" "241679560" "241679560" "subst" "0" "02330" "KIF1A_000192" "g.241679560C>T" "" "" "" "KIF1A(NM_001244008.2):c.3817-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240740143C>T" "" "VUS" "" "0000515336" "0" "30" "2" "241679737" "241679737" "subst" "8.14637E-6" "01804" "KIF1A_000193" "g.241679737A>G" "" "" "" "KIF1A(NM_001244008.1):c.3794T>C (p.(Met1265Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240740320A>G" "" "likely benign" "" "0000515337" "0" "30" "2" "241680694" "241680694" "subst" "3.69126E-5" "01943" "KIF1A_000194" "g.241680694G>A" "" "" "" "KIF1A(NM_001244008.1):c.3741C>T (p.A1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240741277G>A" "" "likely benign" "" "0000515338" "0" "30" "2" "241680764" "241680764" "subst" "4.85376E-5" "01943" "KIF1A_000195" "g.241680764C>T" "" "" "" "KIF1A(NM_001244008.1):c.3671G>A (p.R1224Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240741347C>T" "" "likely benign" "" "0000515339" "0" "30" "2" "241680767" "241680767" "subst" "0.000207504" "01943" "KIF1A_000196" "g.241680767G>A" "" "" "" "KIF1A(NM_001244008.1):c.3668C>T (p.T1223M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240741350G>A" "" "likely benign" "" "0000515340" "0" "50" "2" "241683449" "241683449" "subst" "0.000385878" "02325" "KIF1A_000099" "g.241683449A>G" "" "" "" "KIF1A(NM_001244008.1):c.3494T>C (p.I1165T), KIF1A(NM_001244008.2):c.3494T>C (p.I1165T, p.(Ile1165Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240744032A>G" "" "VUS" "" "0000515341" "0" "30" "2" "241684870" "241684870" "subst" "0" "02327" "KIF1A_000197" "g.241684870G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745453G>C" "" "likely benign" "" "0000515342" "0" "30" "2" "241685184" "241685184" "subst" "0.00211885" "02326" "KIF1A_000101" "g.241685184G>C" "" "" "" "KIF1A(NM_001244008.1):c.3345C>G (p.A1115=), KIF1A(NM_001244008.2):c.3345C>G (p.A1115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745767G>C" "" "likely benign" "" "0000515343" "0" "30" "2" "241685199" "241685199" "subst" "0.000545292" "02330" "KIF1A_000005" "g.241685199C>T" "" "" "" "KIF1A(NM_001244008.1):c.3330G>A (p.A1110=), KIF1A(NM_001244008.2):c.3330G>A (p.A1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745782C>T" "" "likely benign" "" "0000515344" "0" "10" "2" "241685247" "241685247" "subst" "0.00452866" "02330" "KIF1A_000198" "g.241685247G>A" "" "" "" "KIF1A(NM_001244008.2):c.3282C>T (p.H1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745830G>A" "" "benign" "" "0000515345" "0" "10" "2" "241685270" "241685270" "subst" "0.00369162" "02330" "KIF1A_000043" "g.241685270G>A" "" "" "" "KIF1A(NM_001244008.1):c.3259C>T (p.P1087S, p.(Pro1087Ser)), KIF1A(NM_001244008.2):c.3259C>T (p.P1087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745853G>A" "" "benign" "" "0000515346" "0" "30" "2" "241685270" "241685270" "subst" "0.00369162" "01804" "KIF1A_000043" "g.241685270G>A" "" "" "" "KIF1A(NM_001244008.1):c.3259C>T (p.P1087S, p.(Pro1087Ser)), KIF1A(NM_001244008.2):c.3259C>T (p.P1087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745853G>A" "" "likely benign" "" "0000515347" "0" "30" "2" "241685270" "241685270" "subst" "0.00369162" "02326" "KIF1A_000043" "g.241685270G>A" "" "" "" "KIF1A(NM_001244008.1):c.3259C>T (p.P1087S, p.(Pro1087Ser)), KIF1A(NM_001244008.2):c.3259C>T (p.P1087S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240745853G>A" "" "likely benign" "" "0000515348" "0" "30" "2" "241685573" "241685573" "subst" "0.00140034" "02326" "KIF1A_000103" "g.241685573C>T" "" "" "" "KIF1A(NM_001244008.1):c.3085G>A (p.V1029M), KIF1A(NM_001244008.2):c.3085G>A (p.V1029M), KIF1A(NM_004321.8):c.2782G>A (p.V928M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240746156C>T" "" "likely benign" "" "0000515349" "0" "30" "2" "241689904" "241689904" "subst" "8.12836E-6" "01943" "KIF1A_000199" "g.241689904G>A" "" "" "" "KIF1A(NM_001244008.1):c.2919C>T (p.I973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240750487G>A" "" "likely benign" "" "0000515350" "0" "30" "2" "241689925" "241689925" "subst" "0.000817273" "01943" "KIF1A_000200" "g.241689925G>C" "" "" "" "KIF1A(NM_001244008.1):c.2898C>G (p.P966=), KIF1A(NM_001244008.2):c.2898C>G (p.P966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240750508G>C" "" "likely benign" "" "0000515351" "0" "30" "2" "241696716" "241696716" "subst" "0" "02330" "KIF1A_000201" "g.241696716C>T" "" "" "" "KIF1A(NM_001244008.2):c.2858+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757299C>T" "" "likely benign" "" "0000515352" "0" "50" "2" "241696781" "241696781" "subst" "0.0016682" "02330" "KIF1A_000105" "g.241696781C>T" "" "" "" "KIF1A(NM_001244008.1):c.2813G>A (p.R938Q), KIF1A(NM_001244008.2):c.2813G>A (p.R938Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757364C>T" "" "VUS" "" "0000515353" "0" "30" "2" "241696781" "241696781" "subst" "0.0016682" "01943" "KIF1A_000105" "g.241696781C>T" "" "" "" "KIF1A(NM_001244008.1):c.2813G>A (p.R938Q), KIF1A(NM_001244008.2):c.2813G>A (p.R938Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757364C>T" "" "likely benign" "" "0000515354" "0" "30" "2" "241696781" "241696781" "subst" "0.0016682" "02326" "KIF1A_000105" "g.241696781C>T" "" "" "" "KIF1A(NM_001244008.1):c.2813G>A (p.R938Q), KIF1A(NM_001244008.2):c.2813G>A (p.R938Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757364C>T" "" "likely benign" "" "0000515355" "0" "50" "2" "241696840" "241696842" "del" "0" "01943" "KIF1A_000202" "g.241696840_241696842del" "" "" "" "KIF1A(NM_001244008.1):c.2754_2756delTGA (p.D918del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757423_240757425del" "" "VUS" "" "0000515357" "0" "10" "2" "241696871" "241696873" "dup" "0" "02330" "KIF1A_000109" "g.241696871_241696873dup" "" "" "" "KIF1A(NM_001244008.1):c.2748_2750dup (p.(Glu917dup)), KIF1A(NM_001244008.1):c.2751_2753dupGGA (p.E917dup), KIF1A(NM_001244008.2):c.2751_2753dupGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757454_240757456dup" "" "benign" "" "0000515358" "0" "10" "2" "241696871" "241696873" "dup" "0" "01943" "KIF1A_000109" "g.241696871_241696873dup" "" "" "" "KIF1A(NM_001244008.1):c.2748_2750dup (p.(Glu917dup)), KIF1A(NM_001244008.1):c.2751_2753dupGGA (p.E917dup), KIF1A(NM_001244008.2):c.2751_2753dupGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757454_240757456dup" "" "benign" "" "0000515359" "0" "30" "2" "241696871" "241696873" "dup" "0" "02326" "KIF1A_000109" "g.241696871_241696873dup" "" "" "" "KIF1A(NM_001244008.1):c.2748_2750dup (p.(Glu917dup)), KIF1A(NM_001244008.1):c.2751_2753dupGGA (p.E917dup), KIF1A(NM_001244008.2):c.2751_2753dupGGA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240757454_240757456dup" "" "likely benign" "" "0000515360" "0" "10" "2" "241697884" "241697884" "subst" "0.00183009" "01943" "KIF1A_000021" "g.241697884G>A" "" "" "" "KIF1A(NM_001244008.1):c.2475C>T (p.Y825=), KIF1A(NM_001379631.1):c.2550C>T (p.Y850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240758467G>A" "" "benign" "" "0000515361" "0" "30" "2" "241700087" "241700087" "subst" "0" "01943" "KIF1A_000204" "g.241700087C>T" "" "" "" "KIF1A(NM_001244008.1):c.2439G>A (p.K813=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240760670C>T" "" "likely benign" "" "0000515362" "0" "30" "2" "241700764" "241700764" "subst" "6.94654E-5" "01804" "KIF1A_000205" "g.241700764G>A" "" "" "" "KIF1A(NM_001244008.1):c.2147C>T (p.(Ala716Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240761347G>A" "" "likely benign" "" "0000515363" "0" "30" "2" "241702161" "241702163" "dup" "0" "01943" "KIF1A_000206" "g.241702161_241702163dup" "" "" "" "KIF1A(NM_001244008.1):c.2101_2103dupGAG (p.E701dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240762744_240762746dup" "" "likely benign" "" "0000515364" "0" "30" "2" "241702576" "241702576" "subst" "5.83781E-5" "01804" "KIF1A_000126" "g.241702576G>A" "" "" "" "KIF1A(NM_001244008.1):c.1949+7C>T (p.(=)), KIF1A(NM_001244008.2):c.1949+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240763159G>A" "" "likely benign" "" "0000515365" "0" "30" "2" "241708610" "241708610" "subst" "0.000460648" "02330" "KIF1A_000207" "g.241708610G>A" "" "" "" "KIF1A(NM_001244008.2):c.1437C>T (p.A479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240769193G>A" "" "likely benign" "" "0000515366" "0" "30" "2" "241709025" "241709025" "subst" "0.000942895" "02330" "KIF1A_000208" "g.241709025C>T" "" "" "" "KIF1A(NM_001244008.2):c.1421+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240769608C>T" "" "likely benign" "" "0000515367" "0" "30" "2" "241710412" "241710412" "subst" "4.48076E-5" "01943" "KIF1A_000209" "g.241710412G>A" "" "" "" "KIF1A(NM_001244008.1):c.1317C>T (p.S439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240770995G>A" "" "likely benign" "" "0000515368" "0" "30" "2" "241710563" "241710563" "subst" "0.000138728" "01943" "KIF1A_000210" "g.241710563C>T" "" "" "" "KIF1A(NM_001330290.1):c.1241G>A (p.R414H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240771146C>T" "" "likely benign" "" "0000515369" "0" "30" "2" "241710589" "241710589" "subst" "0" "02330" "KIF1A_000211" "g.241710589G>A" "" "" "" "KIF1A(NM_001244008.2):c.1208-68C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240771172G>A" "" "likely benign" "" "0000515370" "0" "30" "2" "241712031" "241712031" "subst" "0.000414699" "02330" "KIF1A_000212" "g.241712031G>A" "" "" "" "KIF1A(NM_001244008.2):c.1181-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240772614G>A" "" "likely benign" "" "0000515371" "0" "90" "2" "241713630" "241713632" "del" "0" "02327" "KIF1A_000213" "g.241713630_241713632del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240774213_240774215del" "" "pathogenic" "" "0000515372" "0" "90" "2" "241715312" "241715312" "subst" "0" "02327" "KIF1A_000161" "g.241715312G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240775895G>A" "" "pathogenic" "" "0000515373" "0" "30" "2" "241722450" "241722450" "subst" "2.44057E-5" "02330" "KIF1A_000214" "g.241722450G>A" "" "" "" "KIF1A(NM_001244008.2):c.864+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240783033G>A" "" "likely benign" "" "0000515374" "0" "30" "2" "241722476" "241722476" "subst" "0.000548861" "01943" "KIF1A_000215" "g.241722476G>A" "" "" "" "KIF1A(NM_001244008.1):c.849C>T (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240783059G>A" "" "likely benign" "" "0000515375" "0" "70" "2" "241722504" "241722504" "subst" "0" "02327" "KIF1A_000216" "g.241722504G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240783087G>A" "" "likely pathogenic" "" "0000515376" "0" "90" "2" "241723181" "241723181" "subst" "0" "02327" "KIF1A_000170" "g.241723181G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240783764G>A" "" "pathogenic" "" "0000515377" "0" "50" "2" "241723191" "241723191" "subst" "0" "02325" "KIF1A_000217" "g.241723191C>G" "" "" "" "KIF1A(NM_001244008.2):c.763G>C (p.A255P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240783774C>G" "" "VUS" "" "0000515378" "0" "30" "2" "241724401" "241724401" "subst" "2.03232E-5" "02330" "KIF1A_000218" "g.241724401C>G" "" "" "" "KIF1A(NM_001244008.1):c.720+5G>C, KIF1A(NM_001244008.2):c.720+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240784984C>G" "" "likely benign" "" "0000515379" "0" "30" "2" "241724401" "241724401" "subst" "2.03232E-5" "01943" "KIF1A_000218" "g.241724401C>G" "" "" "" "KIF1A(NM_001244008.1):c.720+5G>C, KIF1A(NM_001244008.2):c.720+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240784984C>G" "" "likely benign" "" "0000515380" "0" "30" "2" "241724412" "241724412" "subst" "0.000239769" "01943" "KIF1A_000219" "g.241724412C>T" "" "" "" "KIF1A(NM_001244008.1):c.714G>A (p.T238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240784995C>T" "" "likely benign" "" "0000515381" "0" "50" "2" "241725861" "241725861" "subst" "0" "02330" "KIF1A_000156" "g.241725861G>A" "" "" "" "KIF1A(NM_001244008.2):c.499C>T (p.R167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240786444G>A" "" "VUS" "" "0000515382" "0" "70" "2" "241725861" "241725861" "subst" "0" "02329" "KIF1A_000156" "g.241725861G>A" "" "" "" "KIF1A(NM_001244008.2):c.499C>T (p.R167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240786444G>A" "" "likely pathogenic" "" "0000515383" "0" "70" "2" "241725893" "241725893" "subst" "0" "01804" "KIF1A_000220" "g.241725893T>A" "" "" "" "KIF1A(NM_001244008.1):c.467A>T (p.(Asp156Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240786476T>A" "" "likely pathogenic" "" "0000515384" "0" "30" "2" "241725938" "241725938" "subst" "4.09729E-6" "01804" "KIF1A_000221" "g.241725938G>A" "" "" "" "KIF1A(NM_001244008.1):c.430-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240786521G>A" "" "likely benign" "" "0000515385" "0" "10" "2" "241726704" "241726704" "subst" "0.00485054" "02330" "KIF1A_000028" "g.241726704G>A" "" "" "" "KIF1A(NM_001244008.2):c.393C>T (p.N131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240787287G>A" "" "benign" "" "0000515386" "0" "50" "2" "241726707" "241726707" "subst" "4.06554E-6" "01804" "KIF1A_000222" "g.241726707G>C" "" "" "" "KIF1A(NM_001244008.1):c.390C>G (p.(Ile130Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240787290G>C" "" "VUS" "" "0000515387" "0" "30" "2" "241727461" "241727461" "subst" "0" "01943" "KIF1A_000223" "g.241727461T>C" "" "" "" "KIF1A(NM_001244008.1):c.363+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788044T>C" "" "likely benign" "" "0000515388" "0" "30" "2" "241727461" "241727461" "subst" "0" "01804" "KIF1A_000223" "g.241727461T>C" "" "" "" "KIF1A(NM_001244008.1):c.363+7A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788044T>C" "" "likely benign" "" "0000515389" "0" "90" "2" "241727514" "241727514" "subst" "0" "02327" "KIF1A_000168" "g.241727514G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788097G>T" "" "pathogenic" "" "0000515390" "0" "10" "2" "241727597" "241727597" "subst" "0.00959254" "02330" "KIF1A_000224" "g.241727597G>A" "" "" "" "KIF1A(NM_001244008.2):c.234C>T (p.G78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788180G>A" "" "benign" "" "0000515391" "0" "90" "2" "241727608" "241727608" "subst" "6.50872E-5" "01804" "KIF1A_000225" "g.241727608G>A" "" "" "" "KIF1A(NM_001244008.1):c.223C>T (p.(Arg75Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788191G>A" "" "pathogenic" "" "0000515392" "0" "70" "2" "241727625" "241727625" "subst" "0" "02330" "KIF1A_000176" "g.241727625G>A" "" "" "" "KIF1A(NM_001244008.2):c.206C>T (p.S69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788208G>A" "" "likely pathogenic" "" "0000515393" "0" "30" "2" "241727627" "241727627" "subst" "0.00290137" "02330" "KIF1A_000045" "g.241727627C>A" "" "" "" "KIF1A(NM_001244008.1):c.204G>T (p.A68=), KIF1A(NM_001244008.2):c.204G>T (p.A68=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240788210C>A" "" "likely benign" "" "0000515394" "0" "50" "2" "241728726" "241728726" "subst" "0" "02330" "KIF1A_000226" "g.241728726A>G" "" "" "" "KIF1A(NM_001244008.1):c.110T>C (p.I37T), KIF1A(NM_001244008.2):c.110T>C (p.I37T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240789309A>G" "" "VUS" "" "0000515395" "0" "50" "2" "241737081" "241737081" "subst" "0" "02327" "KIF1A_000164" "g.241737081A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240797664A>G" "" "VUS" "" "0000515396" "0" "50" "2" "241737132" "241737132" "subst" "0" "02327" "KIF1A_000227" "g.241737132C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240797715C>T" "" "VUS" "" "0000607845" "0" "70" "2" "241659198" "241659198" "subst" "0" "02327" "KIF1A_000229" "g.241659198G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719781G>A" "" "likely pathogenic" "" "0000607846" "0" "50" "2" "241659270" "241659270" "subst" "0" "01804" "KIF1A_000230" "g.241659270G>A" "" "" "" "KIF1A(NM_001244008.1):c.4942C>T (p.(Pro1648Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719853G>A" "" "VUS" "" "0000607847" "0" "30" "2" "241659323" "241659323" "subst" "0.00261756" "02330" "KIF1A_000084" "g.241659323C>T" "" "" "" "KIF1A(NM_001244008.1):c.4889G>A (p.(Arg1630Gln)), KIF1A(NM_001244008.2):c.4889G>A (p.R1630Q), KIF1A(NM_004321.8):c.4586G>A (p.R1529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719906C>T" "" "likely benign" "" "0000607850" "0" "50" "2" "241680789" "241680789" "subst" "0" "01943" "KIF1A_000234" "g.241680789C>T" "" "" "" "KIF1A(NM_001244008.1):c.3646G>A (p.A1216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240741372C>T" "" "VUS" "" "0000607851" "0" "50" "2" "241713648" "241713648" "subst" "0" "01804" "KIF1A_000235" "g.241713648G>A" "" "" "" "KIF1A(NM_001244008.1):c.989C>T (p.(Ala330Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240774231G>A" "" "VUS" "" "0000607852" "0" "90" "2" "241724474" "241724474" "subst" "0" "02327" "KIF1A_000238" "g.241724474G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240785057G>C" "" "pathogenic" "" "0000607853" "0" "30" "2" "241737182" "241737182" "subst" "0.00106497" "02330" "KIF1A_000239" "g.241737182C>T" "" "" "" "KIF1A(NM_001244008.2):c.-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240797765C>T" "" "likely benign" "" "0000621002" "0" "10" "2" "241658594" "241658594" "subst" "0.00043719" "02330" "KIF1A_000228" "g.241658594C>T" "" "" "" "KIF1A(NM_001244008.1):c.5043G>A (p.G1681=), KIF1A(NM_001244008.2):c.5043G>A (p.G1681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719177C>T" "" "benign" "" "0000621003" "0" "10" "2" "241664801" "241664801" "subst" "0.0385556" "02330" "KIF1A_000048" "g.241664801C>T" "" "" "" "KIF1A(NM_001244008.2):c.4143G>A (p.P1381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240725384C>T" "" "benign" "" "0000621004" "0" "30" "2" "241676473" "241676473" "subst" "0.00032903" "01943" "KIF1A_000232" "g.241676473G>A" "" "" "" "KIF1A(NM_001244008.1):c.4007+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240737056G>A" "" "likely benign" "" "0000621005" "0" "50" "2" "241685573" "241685573" "subst" "0.00140034" "02325" "KIF1A_000103" "g.241685573C>T" "" "" "" "KIF1A(NM_001244008.1):c.3085G>A (p.V1029M), KIF1A(NM_001244008.2):c.3085G>A (p.V1029M), KIF1A(NM_004321.8):c.2782G>A (p.V928M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240746156C>T" "" "VUS" "" "0000621006" "0" "30" "2" "241715348" "241715348" "subst" "0.000138224" "02330" "KIF1A_000236" "g.241715348G>T" "" "" "" "KIF1A(NM_001244008.1):c.883-5C>A, KIF1A(NM_001244008.2):c.883-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240775931G>T" "" "likely benign" "" "0000621007" "0" "30" "2" "241724401" "241724401" "subst" "4.47111E-5" "02330" "KIF1A_000237" "g.241724401C>T" "" "" "" "KIF1A(NM_001244008.2):c.720+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240784984C>T" "" "likely benign" "" "0000631919" "0" "70" "2" "241713616" "241713616" "subst" "0" "01807" "KIF1A_000240" "g.241713616T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.240774199T>C" "" "likely pathogenic" "" "0000650518" "1" "30" "2" "241655038" "241655038" "subst" "0" "03575" "KIF1A_000241" "g.241655038C>T" "130/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "130 heterozygous; {DB:CLININrs3732338}" "Germline" "" "rs3732338" "0" "" "" "g.240715621C>T" "" "likely benign" "" "0000650519" "1" "50" "2" "241660428" "241660428" "subst" "0.000144889" "03575" "KIF1A_000087" "g.241660428G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201139273}" "Germline" "" "rs201139273" "0" "" "" "g.240721011G>A" "" "VUS" "" "0000650520" "1" "30" "2" "241689833" "241689833" "subst" "0.0209905" "03575" "KIF1A_000057" "g.241689833G>A" "150/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "150 heterozygous; {DB:CLININrs116600932}" "Germline" "" "rs116600932" "0" "" "" "g.240750416G>A" "" "likely benign" "" "0000653480" "0" "50" "2" "241713667" "241713667" "subst" "0" "01164" "KIF1A_000242" "g.241713667T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.240774250T>C" "" "VUS" "ACMG" "0000654603" "0" "30" "2" "241658469" "241658469" "subst" "0.000281087" "01943" "KIF1A_000080" "g.241658469G>A" "" "" "" "KIF1A(NM_001244008.1):c.5168C>T (p.A1723V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719052G>A" "" "likely benign" "" "0000654604" "0" "30" "2" "241658594" "241658594" "subst" "0.00043719" "01943" "KIF1A_000228" "g.241658594C>T" "" "" "" "KIF1A(NM_001244008.1):c.5043G>A (p.G1681=), KIF1A(NM_001244008.2):c.5043G>A (p.G1681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719177C>T" "" "likely benign" "" "0000654605" "0" "30" "2" "241659285" "241659285" "subst" "0.00034885" "02325" "KIF1A_000011" "g.241659285C>T" "" "" "" "KIF1A(NM_001244008.2):c.4927G>A (p.D1643N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240719868C>T" "" "likely benign" "" "0000654606" "0" "30" "2" "241661900" "241661900" "subst" "9.03418E-5" "01943" "KIF1A_000243" "g.241661900G>A" "" "" "" "KIF1A(NM_001244008.1):c.4638C>T (p.N1546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240722483G>A" "" "likely benign" "" "0000654607" "0" "30" "2" "241679524" "241679524" "subst" "0.00143868" "02330" "KIF1A_000096" "g.241679524A>G" "" "" "" "KIF1A(NM_001244008.1):c.3852T>C (p.H1284=), KIF1A(NM_001244008.2):c.3852T>C (p.H1284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240740107A>G" "" "likely benign" "" "0000654608" "0" "30" "2" "241715348" "241715348" "subst" "0.000138224" "01943" "KIF1A_000236" "g.241715348G>T" "" "" "" "KIF1A(NM_001244008.1):c.883-5C>A, KIF1A(NM_001244008.2):c.883-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.240775931G>T" "" "likely benign" "" "0000669623" "3" "30" "2" "241655038" "241655038" "subst" "0" "03575" "KIF1A_000241" "g.241655038C>T" "8/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs3732338}" "Germline" "" "rs3732338" "0" "" "" "g.240715621C>T" "" "likely benign" "" "0000669624" "3" "30" "2" "241689833" "241689833" "subst" "0.0209905" "03575" "KIF1A_000057" "g.241689833G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs116600932}" "Germline" "" "rs116600932" "0" "" "" "g.240750416G>A" "" "likely benign" "" "0000673886" "0" "70" "2" "241737133" "241737133" "subst" "0" "03730" "KIF1A_000160" "g.241737133G>A" "" "" "" "g.22593C>T" "" "De novo" "-" "" "0" "" "" "g.240797716G>A" "" "likely pathogenic" "ACMG" "0000673887" "0" "70" "2" "241725753" "241725753" "subst" "0" "03730" "KIF1A_000244" "g.241725753T>C" "" "" "" "g.33973A>G" "" "De novo" "" "" "0" "" "" "g.240786336T>C" "" "likely pathogenic" "" "0000673888" "0" "70" "2" "241723155" "241723155" "subst" "0" "03730" "KIF1A_000246" "g.241723155C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.240783738C>A" "" "pathogenic (dominant)" "ACMG" "0000673889" "0" "70" "2" "241715309" "241715309" "subst" "0" "03730" "KIF1A_000245" "g.241715309T>C" "" "" "" "g.44417A>G" "" "De novo" "" "" "0" "" "" "g.240775892T>C" "" "likely pathogenic (dominant)" "ACMG" "0000676580" "0" "30" "2" "241663402" "241663402" "subst" "0.000162771" "01943" "KIF1A_000247" "g.241663402C>T" "" "" "" "KIF1A(NM_001244008.1):c.4308G>A (p.A1436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676581" "0" "30" "2" "241679488" "241679488" "subst" "0.00228652" "02326" "KIF1A_000041" "g.241679488G>A" "" "" "" "KIF1A(NM_001244008.1):c.3888C>T (p.R1296=), KIF1A(NM_001244008.2):c.3888C>T (p.(Arg1296=), p.R1296=), KIF1A(NM_001379631.1):c.3963C>T (p.R1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676582" "0" "50" "2" "241685172" "241685172" "subst" "0" "02330" "KIF1A_000248" "g.241685172G>A" "" "" "" "KIF1A(NM_001244008.2):c.3357C>T (p.D1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676583" "0" "30" "2" "241685557" "241685557" "subst" "4.07954E-5" "01943" "KIF1A_000249" "g.241685557C>T" "" "" "" "KIF1A(NM_001244008.1):c.3101G>A (p.R1034H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676584" "0" "30" "2" "241689865" "241689865" "subst" "0.00203801" "02326" "KIF1A_000104" "g.241689865C>G" "" "" "" "KIF1A(NM_001244008.1):c.2958G>C (p.V986=), KIF1A(NM_001244008.2):c.2958G>C (p.V986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676585" "0" "30" "2" "241706336" "241706336" "subst" "0" "01943" "KIF1A_000250" "g.241706336G>A" "" "" "" "KIF1A(NM_001244008.1):c.1680C>T (p.S560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676586" "0" "30" "2" "241725739" "241725739" "subst" "0" "02330" "KIF1A_000251" "g.241725739T>A" "" "" "" "KIF1A(NM_001244008.2):c.608+13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676587" "0" "30" "2" "241726674" "241726674" "subst" "0.00039066" "01943" "KIF1A_000252" "g.241726674G>A" "" "" "" "KIF1A(NM_001244008.1):c.423C>T (p.S141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688715" "0" "30" "2" "241685586" "241685586" "subst" "0.000922375" "02326" "KIF1A_000253" "g.241685586G>C" "" "" "" "KIF1A(NM_001244008.1):c.3072C>G (p.S1024=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688716" "0" "50" "2" "241686714" "241686714" "subst" "0" "02325" "KIF1A_000254" "g.241686714C>A" "" "" "" "KIF1A(NM_004321.8):c.2699G>T (p.G900V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688717" "0" "30" "2" "241721999" "241721999" "subst" "9.7956E-5" "02330" "KIF1A_000255" "g.241721999C>T" "" "" "" "KIF1A(NM_001244008.2):c.882+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718671" "0" "30" "2" "241659337" "241659337" "subst" "0.00133073" "01943" "KIF1A_000256" "g.241659337C>T" "" "" "" "KIF1A(NM_001244008.1):c.4875G>A (p.P1625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718672" "0" "30" "2" "241661321" "241661321" "subst" "6.4804E-5" "02330" "KIF1A_000257" "g.241661321G>A" "" "" "" "KIF1A(NM_001244008.2):c.4666-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718673" "0" "50" "2" "241679505" "241679505" "subst" "0.000194679" "02329" "KIF1A_000233" "g.241679505G>A" "" "" "" "KIF1A(NM_001244008.1):c.3871C>T (p.R1291C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718674" "0" "30" "2" "241680754" "241680754" "subst" "0.000591116" "02326" "KIF1A_000098" "g.241680754C>T" "" "" "" "KIF1A(NM_001244008.1):c.3681G>A (p.P1227=), KIF1A(NM_001244008.2):c.3681G>A (p.P1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718675" "0" "10" "2" "241689925" "241689925" "subst" "0.000817273" "02330" "KIF1A_000200" "g.241689925G>C" "" "" "" "KIF1A(NM_001244008.1):c.2898C>G (p.P966=), KIF1A(NM_001244008.2):c.2898C>G (p.P966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000718676" "0" "30" "2" "241697021" "241697021" "subst" "0" "02330" "KIF1A_000258" "g.241697021G>A" "" "" "" "KIF1A(NM_001244008.2):c.2583-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718677" "0" "50" "2" "241706365" "241706365" "subst" "6.97756E-5" "02330" "KIF1A_000259" "g.241706365C>T" "" "" "" "KIF1A(NM_001244008.2):c.1651G>A (p.V551I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718678" "0" "30" "2" "241715299" "241715299" "subst" "2.43667E-5" "01943" "KIF1A_000260" "g.241715299G>A" "" "" "" "KIF1A(NM_001244008.1):c.927C>T (p.S309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718679" "0" "50" "2" "241724458" "241724458" "subst" "0" "02330" "KIF1A_000261" "g.241724458A>G" "" "" "" "KIF1A(NM_001244008.2):c.668T>C (p.I223T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718680" "0" "50" "2" "241728726" "241728726" "subst" "0" "02329" "KIF1A_000226" "g.241728726A>G" "" "" "" "KIF1A(NM_001244008.1):c.110T>C (p.I37T), KIF1A(NM_001244008.2):c.110T>C (p.I37T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786901" "0" "90" "2" "241727535" "241727535" "subst" "0" "00006" "KIF1A_000004" "g.241727535G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.240788118G>A" "" "pathogenic" "" "0000787320" "0" "50" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.3705-3C>A (r.spl)" "" "Germline" "" "rs879129733" "0" "" "" "" "" "VUS" "" "0000787321" "0" "50" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.3728C>T (Ala1243Val)" "" "Germline" "" "rs876661146" "0" "" "" "" "{CV-RCV:000213368.1}" "VUS" "" "0000787430" "0" "50" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "Large dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000791007" "0" "70" "2" "241715291" "241715291" "subst" "0" "01164" "KIF1A_000262" "g.241715291G>T" "" "" "" "" "ACMG: PS2_MOD, PM1, PM2_SUP, PP2, PP3" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000800521" "0" "30" "2" "241658409" "241658409" "subst" "5.00977E-5" "02330" "KIF1A_000263" "g.241658409G>A" "" "" "" "KIF1A(NM_001244008.2):c.5214+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800522" "0" "30" "2" "241685453" "241685453" "subst" "0" "02325" "KIF1A_000264" "g.241685453C>T" "" "" "" "KIF1A(NM_004321.8):c.2899+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800523" "0" "50" "2" "241697789" "241697789" "subst" "0" "02329" "KIF1A_000265" "g.241697789C>T" "" "" "" "KIF1A(NM_001244008.1):c.2570G>A (p.R857Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800524" "0" "30" "2" "241697866" "241697866" "subst" "0.000310742" "01943" "KIF1A_000118" "g.241697866C>A" "" "" "" "KIF1A(NM_001244008.1):c.2493G>T (p.V831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800525" "0" "50" "2" "241702174" "241702174" "subst" "4.15731E-5" "02330" "KIF1A_000266" "g.241702174G>A" "" "" "" "KIF1A(NM_001244008.2):c.2078C>T (p.P693L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800526" "0" "30" "2" "241706348" "241706348" "subst" "0" "01943" "KIF1A_000267" "g.241706348G>A" "" "" "" "KIF1A(NM_001244008.1):c.1668C>T (p.S556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800527" "0" "30" "2" "241710564" "241710564" "subst" "0.000159138" "01943" "KIF1A_000268" "g.241710564G>A" "" "" "" "KIF1A(NM_001330290.1):c.1240C>T (p.R414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800528" "0" "50" "2" "241715300" "241715300" "subst" "0" "02327" "KIF1A_000269" "g.241715300G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800529" "0" "30" "2" "241724432" "241724432" "subst" "2.43797E-5" "01943" "KIF1A_000270" "g.241724432C>T" "" "" "" "KIF1A(NM_001244008.1):c.694G>A (p.A232T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800530" "0" "50" "2" "241726691" "241726691" "subst" "8.13233E-6" "02330" "KIF1A_000271" "g.241726691C>T" "" "" "" "KIF1A(NM_001244008.2):c.406G>A (p.D136N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800531" "0" "90" "2" "241737139" "241737139" "subst" "0" "02326" "KIF1A_000141" "g.241737139G>A" "" "" "" "KIF1A(NM_001244008.1):c.31C>T (p.R11W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000832507" "0" "90" "2" "241657468" "241657468" "subst" "3.01324E-5" "04188" "KIF1A_000272" "g.241657468G>A" "" "{PMID:Ferese 2021:34354735}" "" "" "ACMG: PM2-PP2-PP3-PP4" "Unknown" "" "" "" "" "" "g.240718051G>A" "SCV000952911.2" "likely pathogenic (recessive)" "ACMG" "0000837049" "0" "70" "2" "241737132" "241737132" "subst" "0" "02494" "KIF1A_000227" "g.241737132C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000849816" "0" "30" "2" "241659286" "241659286" "subst" "4.10196E-5" "02326" "KIF1A_000183" "g.241659286G>A" "" "" "" "KIF1A(NM_001244008.1):c.4926C>T (p.A1642=), KIF1A(NM_001244008.2):c.4926C>T (p.A1642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849817" "0" "10" "2" "241684840" "241684840" "subst" "2.44628E-5" "02326" "KIF1A_000100" "g.241684840G>A" "" "" "" "KIF1A(NM_001244008.1):c.3465+4C>T, KIF1A(NM_001244008.2):c.3465+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000849818" "0" "50" "2" "241712558" "241712558" "subst" "4.07315E-6" "02329" "KIF1A_000273" "g.241712558C>T" "" "" "" "KIF1A(NM_001244008.1):c.1153G>A (p.A385T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849819" "0" "30" "2" "241722001" "241722001" "subst" "0" "02330" "KIF1A_000274" "g.241722001G>C" "" "" "" "KIF1A(NM_001244008.2):c.882+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849820" "0" "50" "2" "241723193" "241723193" "subst" "0" "01943" "KIF1A_000071" "g.241723193C>T" "" "" "" "KIF1A(NM_001244008.1):c.761G>A (p.R254Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858453" "0" "30" "2" "241725734" "241725734" "subst" "8.17735E-6" "02330" "KIF1A_000275" "g.241725734G>A" "" "" "" "KIF1A(NM_001244008.2):c.608+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885059" "0" "50" "2" "241658482" "241658482" "subst" "0.000321735" "02325" "KIF1A_000081" "g.241658482C>T" "" "" "" "KIF1A(NM_001244008.2):c.5155G>A (p.V1719M), KIF1A(NM_004321.8):c.4852G>A (p.V1618M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885060" "0" "50" "2" "241662027" "241662027" "subst" "5.65087E-5" "02329" "KIF1A_000012" "g.241662027G>A" "" "" "" "KIF1A(NM_001244008.1):c.4511C>T (p.T1504I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885061" "0" "30" "2" "241679524" "241679524" "subst" "0.00143868" "02326" "KIF1A_000096" "g.241679524A>G" "" "" "" "KIF1A(NM_001244008.1):c.3852T>C (p.H1284=), KIF1A(NM_001244008.2):c.3852T>C (p.H1284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885062" "0" "30" "2" "241683343" "241683343" "subst" "8.58229E-5" "02330" "KIF1A_000276" "g.241683343G>A" "" "" "" "KIF1A(NM_001244008.2):c.3584+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885063" "0" "30" "2" "241685199" "241685199" "subst" "0.000545292" "02326" "KIF1A_000005" "g.241685199C>T" "" "" "" "KIF1A(NM_001244008.1):c.3330G>A (p.A1110=), KIF1A(NM_001244008.2):c.3330G>A (p.A1110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885064" "0" "50" "2" "241685258" "241685258" "subst" "3.70422E-5" "02330" "KIF1A_000277" "g.241685258C>G" "" "" "" "KIF1A(NM_001244008.2):c.3271G>C (p.A1091P, p.(Ala1091Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885065" "0" "30" "2" "241685283" "241685283" "subst" "0.000858045" "02326" "KIF1A_000033" "g.241685283G>A" "" "" "" "KIF1A(NM_001244008.1):c.3246C>T (p.A1082=), KIF1A(NM_001244008.2):c.3246C>T (p.A1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885066" "0" "50" "2" "241696890" "241696890" "subst" "0" "02325" "KIF1A_000278" "g.241696890C>T" "" "" "" "KIF1A(NM_004321.8):c.2555+887G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885067" "0" "30" "2" "241696915" "241696915" "subst" "5.57165E-5" "02330" "KIF1A_000116" "g.241696915G>A" "" "" "" "KIF1A(NM_001244008.1):c.2679C>T (p.P893=), KIF1A(NM_001244008.2):c.2679C>T (p.P893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885068" "0" "30" "2" "241700724" "241700724" "subst" "4.06441E-5" "02326" "KIF1A_000279" "g.241700724C>T" "" "" "" "KIF1A(NM_001244008.1):c.2187G>A (p.T729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885069" "0" "30" "2" "241706348" "241706348" "subst" "0" "02326" "KIF1A_000267" "g.241706348G>A" "" "" "" "KIF1A(NM_001244008.1):c.1668C>T (p.S556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885070" "0" "70" "2" "241712529" "241712529" "subst" "0" "02327" "KIF1A_000280" "g.241712529A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885071" "0" "50" "2" "241722487" "241722487" "subst" "0" "02325" "KIF1A_000281" "g.241722487T>C" "" "" "" "KIF1A(NM_004321.8):c.838A>G (p.K280E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885072" "0" "50" "2" "241725931" "241725931" "subst" "0" "02330" "KIF1A_000282" "g.241725931C>T" "" "" "" "KIF1A(NM_001244008.2):c.430-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911648" "0" "50" "2" "241656825" "241656825" "subst" "0" "02325" "KIF1A_000283" "g.241656825T>C" "" "" "" "KIF1A(NM_004321.8):c.5031-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911649" "0" "30" "2" "241661233" "241661233" "subst" "0.000114105" "02326" "KIF1A_000284" "g.241661233G>A" "" "" "" "KIF1A(NM_001244008.1):c.4734C>T (p.S1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911650" "0" "30" "2" "241666333" "241666333" "subst" "3.70911E-5" "02330" "KIF1A_000285" "g.241666333C>T" "" "" "" "KIF1A(NM_001379631.1):c.4107G>A (p.A1369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911651" "0" "50" "2" "241685201" "241685201" "subst" "0" "02325" "KIF1A_000286" "g.241685201C>T" "" "" "" "KIF1A(NM_004321.8):c.3025G>A (p.A1009T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911652" "0" "30" "2" "241686737" "241686737" "subst" "0.00391103" "02326" "KIF1A_000020" "g.241686737G>A" "" "" "" "KIF1A(NM_001244008.1):c.2979C>T (p.A993=), KIF1A(NM_001244008.2):c.2979C>T (p.A993=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911653" "0" "10" "2" "241710594" "241710594" "subst" "0" "02330" "KIF1A_000287" "g.241710594C>T" "" "" "" "KIF1A(NM_001379631.1):c.1210G>A (p.V404M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911654" "0" "50" "2" "241724483" "241724483" "subst" "0" "02327" "KIF1A_000288" "g.241724483T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911655" "0" "50" "2" "241728672" "241728672" "subst" "0" "02327" "KIF1A_000289" "g.241728672G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000919327" "0" "90" "2" "241724479" "241724479" "subst" "0" "03779" "KIF1A_000079" "g.241724479C>T" "" "" "" "" "" "Unknown" "" "rs672601368" "0" "" "" "" "" "pathogenic" "" "0000922701" "0" "70" "2" "241659409" "241659409" "subst" "0" "00006" "KIF1A_000290" "g.241659409G>A" "" "{PMID:Gostain 2020:32960281}" "" "NM_004321.6:c.4566-66C>T" "" "De novo" "" "" "0" "" "" "g.240719992G>A" "" "VUS" "" "0000923665" "0" "50" "2" "241666360" "241666360" "subst" "0" "02330" "KIF1A_000291" "g.241666360G>T" "" "" "" "KIF1A(NM_001379631.1):c.4083-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923666" "0" "90" "2" "241728663" "241728663" "subst" "0" "02329" "KIF1A_000159" "g.241728663G>A" "" "" "" "KIF1A(NM_001244008.2):c.173C>T (p.S58L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927677" "0" "90" "2" "241715306" "241715306" "subst" "0" "03779" "KIF1A_000073" "g.241715306C>T" "" "" "" "" "" "Unknown" "" "rs1064793161" "0" "" "" "" "" "pathogenic" "" "0000928568" "0" "30" "2" "241702775" "241702775" "subst" "0" "02330" "KIF1A_000292" "g.241702775A>G" "" "" "" "KIF1A(NM_001379631.1):c.1844-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928569" "0" "50" "2" "241715277" "241715277" "subst" "0" "02329" "KIF1A_000293" "g.241715277C>T" "" "" "" "KIF1A(NM_001379631.1):c.949G>A (p.E317K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947806" "0" "50" "2" "241659255" "241659255" "subst" "0" "02330" "KIF1A_000294" "g.241659255C>T" "" "" "" "KIF1A(NM_001379631.1):c.5032G>A (p.A1678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947807" "0" "30" "2" "241679103" "241679103" "subst" "0" "02330" "KIF1A_000295" "g.241679103G>A" "" "" "" "KIF1A(NM_001379636.1):c.3599-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947808" "0" "50" "2" "241682385" "241682385" "subst" "2.89872E-5" "02330" "KIF1A_000296" "g.241682385G>A" "" "" "" "KIF1A(NM_001379631.1):c.3676C>T (p.R1226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962008" "0" "50" "2" "241664736" "241664736" "subst" "2.07156E-5" "02327" "KIF1A_000094" "g.241664736C>T" "" "" "" "KIF1A(NM_001244008.1):c.4208G>A (p.R1403H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962018" "0" "30" "2" "241712544" "241712544" "subst" "4.91985E-5" "02326" "KIF1A_000131" "g.241712544G>A" "" "" "" "KIF1A(NM_001244008.1):c.1167C>T (p.G389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962019" "0" "90" "2" "241715280" "241715280" "subst" "0" "02325" "KIF1A_000074" "g.241715280G>A" "" "" "" "KIF1A(NM_004321.8):c.946C>T (p.R316W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962020" "0" "30" "2" "241715346" "241715346" "subst" "6.90872E-5" "02325" "KIF1A_000297" "g.241715346G>A" "" "" "" "KIF1A(NM_004321.8):c.883-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972000" "0" "70" "2" "241723205" "241723205" "subst" "0" "01164" "KIF1A_000298" "g.241723205G>A" "" "" "" "" "ACMG: PM1, PP3_MOD, PS2_SUP, PM2_SUP, PM5_SUP, PP2" "De novo" "-" "" "0" "" "" "g.240783788G>A" "" "likely pathogenic (dominant)" "ACMG" "0000975132" "0" "50" "2" "241658532" "241658532" "subst" "1.62954E-5" "02330" "KIF1A_000299" "g.241658532C>T" "" "" "" "KIF1A(NM_001244008.1):c.5105G>A (p.(Arg1702His)), KIF1A(NM_001379631.1):c.5180G>A (p.R1727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975133" "0" "30" "2" "241659181" "241659181" "subst" "0" "01804" "KIF1A_000300" "g.241659181C>T" "" "" "" "KIF1A(NM_001244008.2):c.5021+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975134" "0" "50" "2" "241659303" "241659303" "subst" "0" "02325" "KIF1A_000301" "g.241659303C>G" "" "" "" "KIF1A(NM_004321.8):c.4606G>C (p.E1536Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975135" "0" "30" "2" "241679488" "241679488" "subst" "0.00228652" "01804" "KIF1A_000041" "g.241679488G>A" "" "" "" "KIF1A(NM_001244008.1):c.3888C>T (p.R1296=), KIF1A(NM_001244008.2):c.3888C>T (p.(Arg1296=), p.R1296=), KIF1A(NM_001379631.1):c.3963C>T (p.R1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975136" "0" "30" "2" "241679768" "241679768" "subst" "1.22127E-5" "01804" "KIF1A_000302" "g.241679768C>T" "" "" "" "KIF1A(NM_001244008.2):c.3763G>A (p.(Val1255Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975137" "0" "50" "2" "241689869" "241689869" "subst" "0" "02325" "KIF1A_000303" "g.241689869C>T" "" "" "" "KIF1A(NM_004321.8):c.2651G>A (p.R884H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975138" "0" "50" "2" "241690226" "241690226" "subst" "0" "01804" "KIF1A_000304" "g.241690226G>C" "" "" "" "KIF1A(NM_001244008.2):c.2859-262C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975139" "0" "10" "2" "241697884" "241697884" "subst" "0.00183009" "02330" "KIF1A_000021" "g.241697884G>A" "" "" "" "KIF1A(NM_001244008.1):c.2475C>T (p.Y825=), KIF1A(NM_001379631.1):c.2550C>T (p.Y850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000975140" "0" "30" "2" "241702511" "241702511" "subst" "0" "01804" "KIF1A_000305" "g.241702511G>A" "" "" "" "KIF1A(NM_001244008.2):c.1950-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975141" "0" "50" "2" "241705184" "241705184" "subst" "0" "01804" "KIF1A_000306" "g.241705184C>T" "" "" "" "KIF1A(NM_001244008.2):c.1711G>A (p.(Gly571Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975142" "0" "30" "2" "241710561" "241710561" "subst" "0.000158995" "01804" "KIF1A_000307" "g.241710561C>T" "" "" "" "KIF1A(NM_001330290.2):c.1243G>A (p.(Gly415Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975143" "0" "50" "2" "241712554" "241712554" "subst" "8.1483E-6" "01804" "KIF1A_000308" "g.241712554T>C" "" "" "" "KIF1A(NM_001244008.2):c.1157A>G (p.(Gln386Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975144" "0" "30" "2" "241713416" "241713416" "subst" "0" "01804" "KIF1A_000309" "g.241713416A>C" "" "" "" "KIF1A(NM_001244008.2):c.1037+184T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975145" "0" "50" "2" "241723537" "241723537" "subst" "0" "01804" "KIF1A_000310" "g.241723537C>T" "" "" "" "KIF1A(NM_001244008.2):c.721-304G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975146" "0" "50" "2" "241724456" "241724456" "subst" "0" "01804" "KIF1A_000311" "g.241724456T>C" "" "" "" "KIF1A(NM_001244008.2):c.670A>G (p.(Ile224Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975147" "0" "50" "2" "241752341" "241752341" "subst" "0" "01804" "KIF1A_000312" "g.241752341A>T" "" "" "" "KIF1A(NM_001244008.2):c.-61+7198T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975148" "0" "30" "2" "241757189" "241757189" "subst" "0" "01804" "KIF1A_000313" "g.241757189C>T" "" "" "" "KIF1A(NM_001244008.2):c.-61+2350G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992724" "0" "50" "2" "241657498" "241657498" "subst" "8.28253E-6" "01804" "KIF1A_000314" "g.241657498C>T" "" "" "" "KIF1A(NM_001244008.1):c.5302G>A (p.(Ala1768Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992725" "0" "50" "2" "241658532" "241658532" "subst" "1.62954E-5" "01804" "KIF1A_000299" "g.241658532C>T" "" "" "" "KIF1A(NM_001244008.1):c.5105G>A (p.(Arg1702His)), KIF1A(NM_001379631.1):c.5180G>A (p.R1727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992726" "0" "30" "2" "241659241" "241659241" "subst" "2.06554E-5" "01804" "KIF1A_000315" "g.241659241G>T" "" "" "" "KIF1A(NM_001244008.1):c.4971C>A (p.(Asp1657Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992727" "0" "30" "2" "241659323" "241659323" "subst" "0.00261756" "01804" "KIF1A_000084" "g.241659323C>T" "" "" "" "KIF1A(NM_001244008.1):c.4889G>A (p.(Arg1630Gln)), KIF1A(NM_001244008.2):c.4889G>A (p.R1630Q), KIF1A(NM_004321.8):c.4586G>A (p.R1529Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992728" "0" "30" "2" "241661901" "241661901" "subst" "0" "01804" "KIF1A_000316" "g.241661901T>G" "" "" "" "KIF1A(NM_001244008.1):c.4637A>C (p.(Asn1546Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992729" "0" "50" "2" "241662040" "241662040" "subst" "5.82615E-5" "01804" "KIF1A_000317" "g.241662040C>G" "" "" "" "KIF1A(NM_001244008.1):c.4498G>C (p.(Glu1500Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992730" "0" "30" "2" "241664695" "241664695" "subst" "3.95163E-5" "01804" "KIF1A_000318" "g.241664695A>T" "" "" "" "KIF1A(NM_001244008.1):c.4249T>A (p.(Ser1417Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992731" "0" "10" "2" "241679488" "241679488" "subst" "0.00228652" "02330" "KIF1A_000041" "g.241679488G>A" "" "" "" "KIF1A(NM_001244008.1):c.3888C>T (p.R1296=), KIF1A(NM_001244008.2):c.3888C>T (p.(Arg1296=), p.R1296=), KIF1A(NM_001379631.1):c.3963C>T (p.R1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992732" "0" "50" "2" "241680681" "241680681" "subst" "0" "02330" "KIF1A_000319" "g.241680681C>A" "" "" "" "KIF1A(NM_001379631.1):c.3824+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992733" "0" "30" "2" "241684918" "241684918" "subst" "0" "01804" "KIF1A_000320" "g.241684918C>T" "" "" "" "KIF1A(NM_001244008.1):c.3391G>A (p.(Asp1131Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992734" "0" "30" "2" "241685564" "241685564" "subst" "2.33656E-5" "01804" "KIF1A_000321" "g.241685564T>A" "" "" "" "KIF1A(NM_001244008.1):c.3094A>T (p.(Met1032Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992735" "0" "30" "2" "241696745" "241696745" "subst" "0" "01804" "KIF1A_000322" "g.241696745A>G" "" "" "" "KIF1A(NM_001244008.1):c.2849T>C (p.(Leu950Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992736" "0" "30" "2" "241696761" "241696761" "subst" "0" "01804" "KIF1A_000323" "g.241696761G>C" "" "" "" "KIF1A(NM_001244008.1):c.2833C>G (p.(Pro945Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992737" "0" "50" "2" "241696862" "241696873" "del" "0" "02325" "KIF1A_000324" "g.241696862_241696873del" "" "" "" "KIF1A(NM_004321.8):c.2555+925_2555+936delGGAGGAGGAGGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992738" "0" "30" "2" "241702130" "241702130" "subst" "0" "02330" "KIF1A_000325" "g.241702130C>T" "" "" "" "KIF1A(NM_001379631.1):c.2191+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992739" "0" "50" "2" "241702713" "241702713" "subst" "0" "01804" "KIF1A_000326" "g.241702713C>A" "" "" "" "KIF1A(NM_001244008.1):c.1819G>T (p.(Glu607*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992740" "0" "50" "2" "241705169" "241705169" "subst" "0" "01804" "KIF1A_000327" "g.241705169C>T" "" "" "" "KIF1A(NM_001244008.1):c.1726G>A (p.(Val576Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992741" "0" "30" "2" "241710446" "241710446" "subst" "0" "01804" "KIF1A_000328" "g.241710446C>G" "" "" "" "KIF1A(NM_001244008.1):c.1283G>C (p.(Ser428Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992742" "0" "30" "2" "241710553" "241710553" "subst" "7.74935E-5" "02326" "KIF1A_000329" "g.241710553C>T" "" "" "" "KIF1A(NM_001330290.2):c.1251G>A (p.T417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992743" "0" "50" "2" "241712572" "241712572" "subst" "4.06534E-6" "01804" "KIF1A_000330" "g.241712572C>T" "" "" "" "KIF1A(NM_001244008.1):c.1139G>A (p.(Arg380Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992744" "0" "50" "2" "241725900" "241725900" "subst" "0" "01804" "KIF1A_000331" "g.241725900C>T" "" "" "" "KIF1A(NM_001244008.1):c.460G>A (p.(Val154Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992745" "0" "50" "2" "241728705" "241728705" "subst" "0" "01804" "KIF1A_000332" "g.241728705T>C" "" "" "" "KIF1A(NM_001244008.1):c.131A>G (p.(Lys44Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007487" "0" "70" "2" "241664688" "241664688" "subst" "0" "00006" "KIF1A_000333" "g.241664688C>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001244008.2:c.4256T>G" "" "Germline" "" "" "0" "" "" "g.240725271C>A" "" "VUS" "" "0001007537" "0" "70" "2" "241724408" "241724410" "del" "0" "00006" "KIF1A_000335" "g.241724408_241724410del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1456935687" "0" "" "" "g.240784991_240784993del" "" "VUS" "" "0001007565" "0" "70" "2" "241702670" "241702670" "subst" "0.000115388" "00006" "KIF1A_000334" "g.241702670G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs760338913" "0" "" "" "g.240763253G>A" "" "VUS" "" "0001013699" "0" "50" "2" "241662964" "241662964" "subst" "0" "02325" "KIF1A_000336" "g.241662964G>A" "" "" "" "KIF1A(NM_004321.8):c.4027C>T (p.R1343W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013700" "0" "50" "2" "241705184" "241705184" "subst" "0" "02325" "KIF1A_000337" "g.241705184C>G" "" "" "" "KIF1A(NM_004321.8):c.1684G>C (p.G562R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013701" "0" "30" "2" "241710463" "241710463" "subst" "2.84676E-5" "02330" "KIF1A_000338" "g.241710463G>A" "" "" "" "KIF1A(NM_001379631.1):c.1341C>T (p.R447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013702" "0" "30" "2" "241722476" "241722476" "subst" "0.000548861" "02326" "KIF1A_000215" "g.241722476G>A" "" "" "" "KIF1A(NM_001244008.1):c.849C>T (p.S283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024560" "0" "10" "2" "241727452" "241727452" "subst" "0.00214653" "02330" "KIF1A_000029" "g.241727452G>A" "" "" "" "KIF1A(NM_001379631.1):c.363+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033176" "0" "30" "2" "241659185" "241659185" "subst" "0" "01804" "KIF1A_000339" "g.241659185A>G" "" "" "" "KIF1A(NM_001244008.2):c.5021+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033177" "0" "50" "2" "241660418" "241660418" "subst" "0.000249174" "02325" "KIF1A_000340" "g.241660418G>A" "" "" "" "KIF1A(NM_004321.8):c.4478C>T (p.S1493L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033178" "0" "50" "2" "241676576" "241676576" "subst" "4.06151E-6" "01804" "KIF1A_000341" "g.241676576C>T" "" "" "" "KIF1A(NM_001244008.2):c.3911G>A (p.(Arg1304Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033179" "0" "50" "2" "241679731" "241679731" "subst" "1.63035E-5" "01804" "KIF1A_000342" "g.241679731G>T" "" "" "" "KIF1A(NM_001244008.2):c.3800C>A (p.(Thr1267Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033180" "0" "50" "2" "241683449" "241683449" "subst" "0.000385878" "01804" "KIF1A_000099" "g.241683449A>G" "" "" "" "KIF1A(NM_001244008.1):c.3494T>C (p.I1165T), KIF1A(NM_001244008.2):c.3494T>C (p.I1165T, p.(Ile1165Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033181" "0" "50" "2" "241685258" "241685258" "subst" "3.70422E-5" "01804" "KIF1A_000277" "g.241685258C>G" "" "" "" "KIF1A(NM_001244008.2):c.3271G>C (p.A1091P, p.(Ala1091Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033182" "0" "30" "2" "241685497" "241685497" "subst" "0" "01804" "KIF1A_000343" "g.241685497A>C" "" "" "" "KIF1A(NM_001244008.2):c.3161T>G (p.(Val1054Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033183" "0" "30" "2" "241705486" "241705486" "subst" "0" "01804" "KIF1A_000344" "g.241705486C>T" "" "" "" "KIF1A(NM_001244008.2):c.1685-276G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033184" "0" "30" "2" "241710439" "241710439" "subst" "8.13842E-6" "02326" "KIF1A_000345" "g.241710439G>A" "" "" "" "KIF1A(NM_001244008.1):c.1290C>T (p.H430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033185" "0" "30" "2" "241710544" "241710544" "subst" "8.15009E-6" "01804" "KIF1A_000346" "g.241710544T>G" "" "" "" "KIF1A(NM_001330290.2):c.1260A>C (p.(Glu420Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033186" "0" "50" "2" "241722018" "241722018" "subst" "0" "01804" "KIF1A_000347" "g.241722018C>G" "" "" "" "KIF1A(NM_001244008.2):c.871G>C (p.(Gly291Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033187" "0" "30" "2" "241723025" "241723025" "subst" "0" "01804" "KIF1A_000348" "g.241723025C>A" "" "" "" "KIF1A(NM_001244008.2):c.798+131G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033188" "0" "30" "2" "241752380" "241752380" "subst" "0" "01804" "KIF1A_000349" "g.241752380A>G" "" "" "" "KIF1A(NM_001244008.2):c.-61+7159T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045822" "0" "30" "2" "241679706" "241679706" "subst" "0.000302998" "02326" "KIF1A_000350" "g.241679706G>A" "" "" "" "KIF1A(NM_001244008.1):c.3816+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045823" "0" "30" "2" "241706353" "241706353" "subst" "0.000144506" "02326" "KIF1A_000127" "g.241706353C>T" "" "" "" "KIF1A(NM_001244008.1):c.1663G>A (p.D555N), KIF1A(NM_001244008.2):c.1663G>A (p.D555N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045824" "0" "30" "2" "241723199" "241723199" "subst" "0" "02326" "KIF1A_000351" "g.241723199C>T" "" "" "" "KIF1A(NM_001244008.1):c.755G>A (p.S252N)" "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 KIF1A ## Count = 1080 "{{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}}" "0000011769" "00023880" "30" "2674" "818" "2674" "818" "c.2674+818G>A" "r.(=)" "p.(=)" "" "0000011769" "00001365" "30" "2977" "818" "2977" "818" "c.2977+818G>A" "r.(=)" "p.(=)" "28i" "0000046854" "00023880" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Met)" "4" "0000046854" "00001365" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Met)" "4" "0000046855" "00023880" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.Thr99Met" "4" "0000046855" "00001365" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.Thr99Met" "4" "0000046856" "00023880" "90" "935" "0" "936" "0" "c.935_936delinsTG" "r.(?)" "p.Thr312Met" "11" "0000046856" "00001365" "90" "935" "0" "936" "0" "c.(935_936delinsTG)" "r.(?)" "p.Thr312Met" "11" "0000046890" "00023880" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Ala1009=)" "" "0000046890" "00001365" "00" "3330" "0" "3330" "0" "c.3330G>A" "r.(=)" "p.(=)" "" "0000046891" "00023880" "30" "5030" "36" "5030" "36" "c.5030+36G>C" "r.(=)" "p.(=)" "i" "0000046891" "00001365" "00" "5333" "36" "5333" "36" "c.5333+36G>C" "r.(=)" "p.(=)" "" "0000046892" "00023880" "30" "4911" "22" "4911" "22" "c.4911+22G>T" "r.(=)" "p.(=)" "i" "0000046892" "00001365" "00" "5214" "22" "5214" "22" "c.5214+22G>T" "r.(=)" "p.(=)" "" "0000046893" "00023880" "30" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595His)" "" "0000046893" "00001365" "00" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Arg1696His)" "" "0000046894" "00023880" "30" "4722" "0" "4722" "0" "c.4722G>A" "r.(?)" "p.(Pro1574=)" "" "0000046894" "00001365" "00" "5025" "0" "5025" "0" "c.5025G>A" "r.(=)" "p.(=)" "" "0000046895" "00023880" "30" "4718" "16" "4718" "16" "c.4718+16C>T" "r.(=)" "p.(=)" "i" "0000046895" "00001365" "00" "5021" "16" "5021" "16" "c.5021+16C>T" "r.(=)" "p.(=)" "" "0000046896" "00023880" "30" "4624" "0" "4624" "0" "c.4624G>A" "r.(?)" "p.(Asp1542Asn)" "" "0000046896" "00001365" "00" "4927" "0" "4927" "0" "c.4927G>A" "r.(?)" "p.(Asp1643Asn)" "" "0000046897" "00023880" "30" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Thr1403Ile)" "" "0000046897" "00001365" "00" "4511" "0" "4511" "0" "c.4511C>T" "r.(?)" "p.(Thr1504Ile)" "" "0000046898" "00023880" "30" "4034" "0" "4034" "0" "c.4034G>A" "r.(?)" "p.(Arg1345Gln)" "" "0000046898" "00001365" "00" "4337" "0" "4337" "0" "c.4337G>A" "r.(?)" "p.(Arg1446Gln)" "" "0000046899" "00023880" "30" "3819" "23" "3819" "23" "c.3819+23C>T" "r.(=)" "p.(=)" "i" "0000046899" "00001365" "00" "4122" "23" "4122" "23" "c.4122+23C>T" "r.(=)" "p.(=)" "" "0000046900" "00023880" "30" "3337" "16" "3337" "16" "c.3337+16G>A" "r.(=)" "p.(=)" "i" "0000046900" "00001365" "00" "3640" "16" "3640" "16" "c.3640+16G>A" "r.(=)" "p.(=)" "" "0000046901" "00023880" "30" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Ser1099Leu)" "" "0000046901" "00001365" "00" "3599" "0" "3599" "0" "c.3599C>T" "r.(?)" "p.(Ser1200Leu)" "" "0000046902" "00023880" "30" "3071" "71" "3071" "71" "c.3071+71G>A" "r.(=)" "p.(=)" "i" "0000046902" "00001365" "00" "3374" "71" "3374" "71" "c.3374+71G>A" "r.(=)" "p.(=)" "" "0000046903" "00023880" "30" "3071" "40" "3071" "40" "c.3071+40G>C" "r.(=)" "p.(=)" "i" "0000046903" "00001365" "00" "3374" "40" "3374" "40" "c.3374+40G>C" "r.(=)" "p.(=)" "" "0000046904" "00023880" "30" "2899" "10" "2899" "10" "c.2899+10C>A" "r.(=)" "p.(=)" "i" "0000046904" "00001365" "00" "3202" "10" "3202" "10" "c.3202+10C>A" "r.(=)" "p.(=)" "" "0000046905" "00023880" "30" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Ala892=)" "" "0000046905" "00001365" "00" "2979" "0" "2979" "0" "c.2979C>T" "r.(=)" "p.(=)" "" "0000046906" "00023880" "30" "2448" "0" "2448" "0" "c.2448C>T" "r.(?)" "p.(Tyr816=)" "" "0000046906" "00001365" "00" "2475" "0" "2475" "0" "c.2475C>T" "r.(=)" "p.(=)" "" "0000046907" "00023880" "30" "2089" "12" "2089" "12" "c.2089+12C>T" "r.(=)" "p.(=)" "i" "0000046907" "00001365" "00" "2116" "12" "2116" "12" "c.2116+12C>T" "r.(=)" "p.(=)" "" "0000046908" "00023880" "30" "1922" "33" "1922" "33" "c.1922+33C>T" "r.(=)" "p.(=)" "i" "0000046908" "00001365" "00" "1949" "33" "1949" "33" "c.1949+33C>T" "r.(=)" "p.(=)" "" "0000046909" "00023880" "30" "1741" "17" "1741" "17" "c.1741+17C>T" "r.(=)" "p.(=)" "i" "0000046909" "00001365" "00" "1768" "17" "1768" "17" "c.1768+17C>T" "r.(=)" "p.(=)" "" "0000046910" "00023880" "30" "1314" "7" "1314" "7" "c.1314+7G>T" "r.(=)" "p.(=)" "i" "0000046910" "00001365" "00" "1341" "7" "1341" "7" "c.1341+7G>T" "r.(=)" "p.(=)" "" "0000046911" "00023880" "30" "720" "30" "720" "30" "c.720+30C>A" "r.(=)" "p.(=)" "i" "0000046911" "00001365" "00" "720" "30" "720" "30" "c.720+30C>A" "r.(=)" "p.(=)" "" "0000046912" "00023880" "30" "608" "46" "608" "46" "c.608+46G>A" "r.(=)" "p.(=)" "i" "0000046912" "00001365" "00" "608" "46" "608" "46" "c.608+46G>A" "r.(=)" "p.(=)" "" "0000046913" "00023880" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asn131=)" "" "0000046913" "00001365" "00" "393" "0" "393" "0" "c.393C>T" "r.(=)" "p.(=)" "" "0000046914" "00023880" "30" "363" "16" "363" "16" "c.363+16C>T" "r.(=)" "p.(=)" "i" "0000046914" "00001365" "00" "363" "16" "363" "16" "c.363+16C>T" "r.(=)" "p.(=)" "" "0000046915" "00023880" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Thr46=)" "" "0000046915" "00001365" "00" "138" "0" "138" "0" "c.138G>A" "r.(=)" "p.(=)" "" "0000046916" "00023880" "30" "106" "35" "106" "35" "c.106+35A>G" "r.(=)" "p.(=)" "i" "0000046916" "00001365" "00" "106" "35" "106" "35" "c.106+35A>G" "r.(=)" "p.(=)" "" "0000046917" "00023880" "30" "3071" "35" "3071" "35" "c.3071+35G>A" "r.(=)" "p.(=)" "i" "0000046917" "00001365" "00" "3374" "35" "3374" "35" "c.3374+35G>A" "r.(=)" "p.(=)" "" "0000046918" "00023880" "30" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Ala981=)" "" "0000046918" "00001365" "00" "3246" "0" "3246" "0" "c.3246C>T" "r.(=)" "p.(=)" "" "0000046919" "00023880" "30" "2555" "715" "2555" "715" "c.2555+715C>G" "r.(=)" "p.(=)" "i" "0000046919" "00001365" "00" "2583" "-51" "2583" "-51" "c.2583-51C>G" "r.(=)" "p.(=)" "" "0000046920" "00023880" "30" "1470" "69" "1470" "69" "c.1470+69T>A" "r.(=)" "p.(=)" "i" "0000046920" "00001365" "00" "1497" "69" "1497" "69" "c.1497+69T>A" "r.(=)" "p.(=)" "" "0000046921" "00023880" "30" "608" "35" "608" "35" "c.608+35C>T" "r.(=)" "p.(=)" "i" "0000046921" "00001365" "00" "608" "35" "608" "35" "c.608+35C>T" "r.(=)" "p.(=)" "" "0000046922" "00023880" "30" "106" "24" "106" "24" "c.106+24C>T" "r.(=)" "p.(=)" "i" "0000046922" "00001365" "00" "106" "24" "106" "24" "c.106+24C>T" "r.(=)" "p.(=)" "" "0000046923" "00023880" "30" "4509" "0" "4509" "0" "c.4509C>A" "r.(?)" "p.(Thr1503=)" "" "0000046923" "00001365" "00" "4812" "0" "4812" "0" "c.4812C>A" "r.(=)" "p.(=)" "" "0000046924" "00023880" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "" "0000046924" "00001365" "00" "4604" "0" "4604" "0" "c.4604C>T" "r.(?)" "p.(Ala1535Val)" "" "0000046925" "00023880" "30" "3598" "11" "3598" "11" "c.3598+11T>C" "r.(=)" "p.(=)" "i" "0000046925" "00001365" "00" "3901" "11" "3901" "11" "c.3901+11T>C" "r.(=)" "p.(=)" "" "0000046926" "00023880" "10" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000046926" "00001365" "00" "3888" "0" "3888" "0" "c.3888C>T" "r.(=)" "p.(=)" "" "0000046927" "00023880" "30" "3446" "48" "3446" "48" "c.3446+48G>C" "r.(=)" "p.(=)" "i" "0000046927" "00001365" "00" "3749" "48" "3749" "48" "c.3749+48G>C" "r.(=)" "p.(=)" "" "0000046928" "00023880" "30" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Pro986Ser)" "" "0000046928" "00001365" "00" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Pro1087Ser)" "" "0000046929" "00023880" "30" "2674" "38" "2674" "38" "c.2674+38C>T" "r.(=)" "p.(=)" "i" "0000046929" "00001365" "00" "2977" "38" "2977" "38" "c.2977+38C>T" "r.(=)" "p.(=)" "" "0000046930" "00023880" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Ala68=)" "" "0000046930" "00001365" "00" "204" "0" "204" "0" "c.204G>T" "r.(=)" "p.(=)" "" "0000046931" "00023880" "30" "4363" "-18" "4363" "-18" "c.4363-18C>T" "r.(=)" "p.(=)" "i" "0000046931" "00001365" "00" "4666" "-18" "4666" "-18" "c.4666-18C>T" "r.(=)" "p.(=)" "" "0000046932" "00023880" "30" "4015" "17" "4015" "17" "c.4015+17C>T" "r.(=)" "p.(=)" "i" "0000046932" "00001365" "00" "4318" "17" "4318" "17" "c.4318+17C>T" "r.(=)" "p.(=)" "" "0000046933" "00023880" "10" "3840" "0" "3840" "0" "c.3840G>A" "r.(?)" "p.(Pro1280=)" "" "0000046933" "00001365" "00" "4143" "0" "4143" "0" "c.4143G>A" "r.(=)" "p.(=)" "" "0000046934" "00023880" "30" "363" "69" "363" "69" "c.363+69C>A" "r.(=)" "p.(=)" "i" "0000046934" "00001365" "00" "363" "69" "363" "69" "c.363+69C>A" "r.(=)" "p.(=)" "" "0000046935" "00023880" "30" "882" "72" "882" "72" "c.882+72T>C" "r.(=)" "p.(=)" "i" "0000046935" "00001365" "00" "882" "72" "882" "72" "c.882+72T>C" "r.(=)" "p.(=)" "" "0000046936" "00023880" "10" "3281" "47" "3281" "47" "c.3281+47C>T" "r.(=)" "p.(=)" "i" "0000046936" "00001365" "00" "3584" "47" "3584" "47" "c.3584+47C>T" "r.(=)" "p.(=)" "" "0000046937" "00023880" "10" "2556" "-18" "2556" "-18" "c.2556-18G>A" "r.(=)" "p.(=)" "i" "0000046937" "00001365" "00" "2859" "-18" "2859" "-18" "c.2859-18G>A" "r.(=)" "p.(=)" "" "0000046938" "00023880" "10" "959" "-39" "959" "-39" "c.959-39A>C" "r.(=)" "p.(=)" "i" "0000046938" "00001365" "00" "959" "-39" "959" "-39" "c.959-39A>C" "r.(=)" "p.(=)" "" "0000046939" "00023880" "10" "1476" "0" "1476" "0" "c.1476A>G" "r.(?)" "p.(Pro492=)" "" "0000046939" "00001365" "00" "1503" "0" "1503" "0" "c.1503A>G" "r.(=)" "p.(=)" "" "0000046940" "00023880" "10" "2760" "17" "2760" "17" "c.2760+17C>T" "r.(=)" "p.(=)" "i" "0000046940" "00001365" "00" "3063" "17" "3063" "17" "c.3063+17C>T" "r.(=)" "p.(=)" "" "0000046941" "00023880" "10" "2769" "0" "2769" "0" "c.2769C>T" "r.(?)" "p.(Ser923=)" "" "0000046941" "00001365" "00" "3072" "0" "3072" "0" "c.3072C>T" "r.(=)" "p.(=)" "" "0000046942" "00023880" "10" "2674" "13" "2674" "13" "c.2674+13C>T" "r.(=)" "p.(=)" "i" "0000046942" "00001365" "00" "2977" "13" "2977" "13" "c.2977+13C>T" "r.(=)" "p.(=)" "" "0000046943" "00023880" "10" "4440" "32" "4440" "32" "c.4440+32C>T" "r.(=)" "p.(=)" "i" "0000046943" "00001365" "00" "4743" "32" "4743" "32" "c.4743+32C>T" "r.(=)" "p.(=)" "" "0000046944" "00023880" "10" "2208" "0" "2208" "0" "c.2208C>T" "r.(?)" "p.(Ala736=)" "" "0000046944" "00001365" "00" "2235" "0" "2235" "0" "c.2235C>T" "r.(=)" "p.(=)" "" "0000046945" "00023880" "10" "3338" "-8" "3338" "-8" "c.3338-8C>T" "r.(=)" "p.(=)" "i" "0000046945" "00001365" "00" "3641" "-8" "3641" "-8" "c.3641-8C>T" "r.(=)" "p.(=)" "" "0000046946" "00023880" "10" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "i" "0000046946" "00001365" "00" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "" "0000046947" "00023880" "10" "3446" "42" "3446" "42" "c.3446+42C>G" "r.(=)" "p.(=)" "i" "0000046947" "00001365" "00" "3749" "42" "3749" "42" "c.3749+42C>G" "r.(=)" "p.(=)" "" "0000046948" "00023880" "10" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Leu331=)" "" "0000046948" "00001365" "00" "991" "0" "991" "0" "c.991T>C" "r.(=)" "p.(=)" "" "0000046949" "00023880" "10" "429" "22" "429" "22" "c.429+22T>C" "r.(=)" "p.(=)" "i" "0000046949" "00001365" "00" "429" "22" "429" "22" "c.429+22T>C" "r.(=)" "p.(=)" "" "0000046988" "00023880" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Ala1009=)" "" "0000046988" "00001365" "00" "3330" "0" "3330" "0" "c.3330G>A" "r.(=)" "p.(=)" "" "0000046989" "00023880" "30" "5030" "36" "5030" "36" "c.5030+36G>C" "r.(=)" "p.(=)" "i" "0000046989" "00001365" "00" "5333" "36" "5333" "36" "c.5333+36G>C" "r.(=)" "p.(=)" "" "0000046990" "00023880" "30" "4911" "22" "4911" "22" "c.4911+22G>T" "r.(=)" "p.(=)" "i" "0000046990" "00001365" "00" "5214" "22" "5214" "22" "c.5214+22G>T" "r.(=)" "p.(=)" "" "0000046991" "00023880" "30" "4784" "0" "4784" "0" "c.4784G>A" "r.(?)" "p.(Arg1595His)" "" "0000046991" "00001365" "00" "5087" "0" "5087" "0" "c.5087G>A" "r.(?)" "p.(Arg1696His)" "" "0000046992" "00023880" "30" "4722" "0" "4722" "0" "c.4722G>A" "r.(?)" "p.(Pro1574=)" "" "0000046992" "00001365" "00" "5025" "0" "5025" "0" "c.5025G>A" "r.(=)" "p.(=)" "" "0000046993" "00023880" "30" "4718" "16" "4718" "16" "c.4718+16C>T" "r.(=)" "p.(=)" "i" "0000046993" "00001365" "00" "5021" "16" "5021" "16" "c.5021+16C>T" "r.(=)" "p.(=)" "" "0000046994" "00023880" "30" "4624" "0" "4624" "0" "c.4624G>A" "r.(?)" "p.(Asp1542Asn)" "" "0000046994" "00001365" "00" "4927" "0" "4927" "0" "c.4927G>A" "r.(?)" "p.(Asp1643Asn)" "" "0000046995" "00023880" "30" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Thr1403Ile)" "" "0000046995" "00001365" "00" "4511" "0" "4511" "0" "c.4511C>T" "r.(?)" "p.(Thr1504Ile)" "" "0000046996" "00023880" "30" "4034" "0" "4034" "0" "c.4034G>A" "r.(?)" "p.(Arg1345Gln)" "" "0000046996" "00001365" "00" "4337" "0" "4337" "0" "c.4337G>A" "r.(?)" "p.(Arg1446Gln)" "" "0000046997" "00023880" "30" "3819" "23" "3819" "23" "c.3819+23C>T" "r.(=)" "p.(=)" "i" "0000046997" "00001365" "00" "4122" "23" "4122" "23" "c.4122+23C>T" "r.(=)" "p.(=)" "" "0000046998" "00023880" "30" "3337" "16" "3337" "16" "c.3337+16G>A" "r.(=)" "p.(=)" "i" "0000046998" "00001365" "00" "3640" "16" "3640" "16" "c.3640+16G>A" "r.(=)" "p.(=)" "" "0000046999" "00023880" "30" "3296" "0" "3296" "0" "c.3296C>T" "r.(?)" "p.(Ser1099Leu)" "" "0000046999" "00001365" "00" "3599" "0" "3599" "0" "c.3599C>T" "r.(?)" "p.(Ser1200Leu)" "" "0000047000" "00023880" "30" "3071" "71" "3071" "71" "c.3071+71G>A" "r.(=)" "p.(=)" "i" "0000047000" "00001365" "00" "3374" "71" "3374" "71" "c.3374+71G>A" "r.(=)" "p.(=)" "" "0000047001" "00023880" "30" "3071" "40" "3071" "40" "c.3071+40G>C" "r.(=)" "p.(=)" "i" "0000047001" "00001365" "00" "3374" "40" "3374" "40" "c.3374+40G>C" "r.(=)" "p.(=)" "" "0000047002" "00023880" "30" "2899" "10" "2899" "10" "c.2899+10C>A" "r.(=)" "p.(=)" "i" "0000047002" "00001365" "00" "3202" "10" "3202" "10" "c.3202+10C>A" "r.(=)" "p.(=)" "" "0000047003" "00023880" "30" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Ala892=)" "" "0000047003" "00001365" "00" "2979" "0" "2979" "0" "c.2979C>T" "r.(=)" "p.(=)" "" "0000047004" "00023880" "30" "2448" "0" "2448" "0" "c.2448C>T" "r.(?)" "p.(Tyr816=)" "" "0000047004" "00001365" "00" "2475" "0" "2475" "0" "c.2475C>T" "r.(=)" "p.(=)" "" "0000047005" "00023880" "30" "2089" "12" "2089" "12" "c.2089+12C>T" "r.(=)" "p.(=)" "i" "0000047005" "00001365" "00" "2116" "12" "2116" "12" "c.2116+12C>T" "r.(=)" "p.(=)" "" "0000047006" "00023880" "30" "1922" "33" "1922" "33" "c.1922+33C>T" "r.(=)" "p.(=)" "i" "0000047006" "00001365" "00" "1949" "33" "1949" "33" "c.1949+33C>T" "r.(=)" "p.(=)" "" "0000047007" "00023880" "30" "1741" "17" "1741" "17" "c.1741+17C>T" "r.(=)" "p.(=)" "i" "0000047007" "00001365" "00" "1768" "17" "1768" "17" "c.1768+17C>T" "r.(=)" "p.(=)" "" "0000047008" "00023880" "30" "1314" "7" "1314" "7" "c.1314+7G>T" "r.(=)" "p.(=)" "i" "0000047008" "00001365" "00" "1341" "7" "1341" "7" "c.1341+7G>T" "r.(=)" "p.(=)" "" "0000047009" "00023880" "30" "720" "30" "720" "30" "c.720+30C>A" "r.(=)" "p.(=)" "i" "0000047009" "00001365" "00" "720" "30" "720" "30" "c.720+30C>A" "r.(=)" "p.(=)" "" "0000047010" "00023880" "30" "608" "46" "608" "46" "c.608+46G>A" "r.(=)" "p.(=)" "i" "0000047010" "00001365" "00" "608" "46" "608" "46" "c.608+46G>A" "r.(=)" "p.(=)" "" "0000047011" "00023880" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asn131=)" "" "0000047011" "00001365" "00" "393" "0" "393" "0" "c.393C>T" "r.(=)" "p.(=)" "" "0000047012" "00023880" "30" "363" "16" "363" "16" "c.363+16C>T" "r.(=)" "p.(=)" "i" "0000047012" "00001365" "00" "363" "16" "363" "16" "c.363+16C>T" "r.(=)" "p.(=)" "" "0000047013" "00023880" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Thr46=)" "" "0000047013" "00001365" "00" "138" "0" "138" "0" "c.138G>A" "r.(=)" "p.(=)" "" "0000047014" "00023880" "30" "106" "35" "106" "35" "c.106+35A>G" "r.(=)" "p.(=)" "i" "0000047014" "00001365" "00" "106" "35" "106" "35" "c.106+35A>G" "r.(=)" "p.(=)" "" "0000047015" "00023880" "30" "3071" "35" "3071" "35" "c.3071+35G>A" "r.(=)" "p.(=)" "i" "0000047015" "00001365" "00" "3374" "35" "3374" "35" "c.3374+35G>A" "r.(=)" "p.(=)" "" "0000047016" "00023880" "30" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Ala981=)" "" "0000047016" "00001365" "00" "3246" "0" "3246" "0" "c.3246C>T" "r.(=)" "p.(=)" "" "0000047017" "00023880" "30" "2555" "715" "2555" "715" "c.2555+715C>G" "r.(=)" "p.(=)" "i" "0000047017" "00001365" "00" "2583" "-51" "2583" "-51" "c.2583-51C>G" "r.(=)" "p.(=)" "" "0000047018" "00023880" "30" "1470" "69" "1470" "69" "c.1470+69T>A" "r.(=)" "p.(=)" "i" "0000047018" "00001365" "00" "1497" "69" "1497" "69" "c.1497+69T>A" "r.(=)" "p.(=)" "" "0000047019" "00023880" "30" "608" "35" "608" "35" "c.608+35C>T" "r.(=)" "p.(=)" "i" "0000047019" "00001365" "00" "608" "35" "608" "35" "c.608+35C>T" "r.(=)" "p.(=)" "" "0000047020" "00023880" "30" "106" "24" "106" "24" "c.106+24C>T" "r.(=)" "p.(=)" "i" "0000047020" "00001365" "00" "106" "24" "106" "24" "c.106+24C>T" "r.(=)" "p.(=)" "" "0000047021" "00023880" "30" "4509" "0" "4509" "0" "c.4509C>A" "r.(?)" "p.(Thr1503=)" "" "0000047021" "00001365" "00" "4812" "0" "4812" "0" "c.4812C>A" "r.(=)" "p.(=)" "" "0000047022" "00023880" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "" "0000047022" "00001365" "00" "4604" "0" "4604" "0" "c.4604C>T" "r.(?)" "p.(Ala1535Val)" "" "0000047023" "00023880" "30" "3598" "11" "3598" "11" "c.3598+11T>C" "r.(=)" "p.(=)" "i" "0000047023" "00001365" "00" "3901" "11" "3901" "11" "c.3901+11T>C" "r.(=)" "p.(=)" "" "0000047024" "00023880" "10" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000047024" "00001365" "00" "3888" "0" "3888" "0" "c.3888C>T" "r.(=)" "p.(=)" "" "0000047025" "00023880" "30" "3446" "48" "3446" "48" "c.3446+48G>C" "r.(=)" "p.(=)" "i" "0000047025" "00001365" "00" "3749" "48" "3749" "48" "c.3749+48G>C" "r.(=)" "p.(=)" "" "0000047026" "00023880" "30" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Pro986Ser)" "" "0000047026" "00001365" "00" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Pro1087Ser)" "" "0000047027" "00023880" "30" "2674" "38" "2674" "38" "c.2674+38C>T" "r.(=)" "p.(=)" "i" "0000047027" "00001365" "00" "2977" "38" "2977" "38" "c.2977+38C>T" "r.(=)" "p.(=)" "" "0000047028" "00023880" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Ala68=)" "" "0000047028" "00001365" "00" "204" "0" "204" "0" "c.204G>T" "r.(=)" "p.(=)" "" "0000047029" "00023880" "30" "4363" "-18" "4363" "-18" "c.4363-18C>T" "r.(=)" "p.(=)" "i" "0000047029" "00001365" "00" "4666" "-18" "4666" "-18" "c.4666-18C>T" "r.(=)" "p.(=)" "" "0000047030" "00023880" "30" "4015" "17" "4015" "17" "c.4015+17C>T" "r.(=)" "p.(=)" "i" "0000047030" "00001365" "00" "4318" "17" "4318" "17" "c.4318+17C>T" "r.(=)" "p.(=)" "" "0000047031" "00023880" "10" "3840" "0" "3840" "0" "c.3840G>A" "r.(?)" 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"p.(Ala736=)" "" "0000047042" "00001365" "00" "2235" "0" "2235" "0" "c.2235C>T" "r.(=)" "p.(=)" "" "0000047043" "00023880" "10" "3338" "-8" "3338" "-8" "c.3338-8C>T" "r.(=)" "p.(=)" "i" "0000047043" "00001365" "00" "3641" "-8" "3641" "-8" "c.3641-8C>T" "r.(=)" "p.(=)" "" "0000047044" "00023880" "10" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "i" "0000047044" "00001365" "00" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "" "0000047045" "00023880" "10" "3446" "42" "3446" "42" "c.3446+42C>G" "r.(=)" "p.(=)" "i" "0000047045" "00001365" "00" "3749" "42" "3749" "42" "c.3749+42C>G" "r.(=)" "p.(=)" "" "0000047046" "00023880" "10" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Leu331=)" "" "0000047046" "00001365" "00" "991" "0" "991" "0" "c.991T>C" "r.(=)" "p.(=)" "" "0000047047" "00023880" "10" "429" "22" "429" "22" "c.429+22T>C" "r.(=)" "p.(=)" "i" "0000047047" "00001365" "00" "429" "22" "429" "22" "c.429+22T>C" "r.(=)" "p.(=)" "" "0000063218" "00023880" "10" "4016" "-44" "4016" "-44" "c.4016-44G>A" "r.(=)" "p.(=)" "" "0000063218" "00001365" "00" "4319" "-44" "4319" "-44" "c.4319-44G>A" "r.(=)" "p.(=)" "" "0000063219" "00023880" "00" "3446" "42" "3446" "42" "c.3446+42C>G" "r.(=)" "p.(=)" "" "0000063219" "00001365" "10" "3749" "42" "3749" "42" "c.3749+42C>G" "r.(?)" "p.(=)" "35i" "0000063220" "00023880" "10" "991" "0" "991" "0" "c.991T>C" "r.(=)" "p.(=)" "" "0000063220" "00001365" "00" "991" "0" "991" "0" "c.991T>C" "r.(=)" "p.(=)" "" "0000063221" "00023880" "10" "3705" "-61" "3705" "-61" "c.3705-61C>T" "r.(=)" "p.(=)" "" "0000063221" "00001365" "00" "4008" "-61" "4008" "-61" "c.4008-61C>T" "r.(=)" "p.(=)" "" "0000063222" "00023880" "10" "1922" "22" "1922" "22" "c.1922+22A>T" "r.(=)" "p.(=)" "" "0000063222" "00001365" "00" "1949" "22" "1949" "22" "c.1949+22A>T" "r.(=)" "p.(=)" "" "0000063223" "00023880" "50" "1550" "32" "1550" "32" "c.1550+32G>T" "r.(=)" "p.(=)" "" "0000063223" "00001365" "00" "1577" "32" "1577" "32" "c.1577+32G>T" "r.(=)" "p.(=)" "" "0000063224" "00023880" "10" "1395" "-50" "1395" "-50" "c.1395-50G>A" "r.(=)" "p.(=)" "" "0000063224" "00001365" "00" "1422" "-50" "1422" "-50" "c.1422-50G>A" "r.(=)" "p.(=)" "" "0000063225" "00023880" "10" "4566" "-25" "4566" "-25" "c.4566-25G>T" "r.(=)" "p.(=)" "" "0000063225" "00001365" "00" "4869" "-25" "4869" "-25" "c.4869-25G>T" "r.(=)" "p.(=)" "" "0000075855" "00023880" "00" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "" "0000075855" "00001365" "70" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "8" "0000075856" "00023880" "00" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Trp)" "" "0000075856" "00001365" "70" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Trp)" "8" "0000075857" "00023880" "00" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0000075857" "00001365" "70" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "11" "0000075858" "00023880" "00" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "" "0000075858" "00001365" "70" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "11" "0000075859" "00023880" "70" "444" "0" "444" "0" "c.444G>T" "r.(?)" "p.(Glu148Asp)" "" "0000075859" "00001365" "70" "444" "0" "444" "0" "c.444G>T" "r.(?)" "p.(Glu148Asp)" "6" "0000079345" "00023880" "00" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000079345" "00001365" "00" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000084846" "00023880" "50" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Tyr74Cys)" "4" "0000084846" "00001365" "50" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Tyr74Cys)" "4" "0000084847" "00023880" "90" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Gln623*)" "" "0000084847" "00001365" "90" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Gln632*)" "21" "0000130175" "00023880" "70" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "0000130175" "00001365" "70" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "0000174930" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174930" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174931" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174931" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174932" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174932" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174933" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174933" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174934" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174934" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174935" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174935" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174936" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174936" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174937" "00023880" "00" "2555" "1023" "2555" "1023" "c.2555+1023del" "r.(=)" "p.(=)" "" "0000174937" "00001365" "90" "2840" "0" "2840" "0" "c.2840del" "r.(?)" "p.(Leu947Argfs*4)" "27" "0000174938" "00023880" "00" "4968" "0" "4968" "0" "c.4968dup" "r.(?)" "p.(Ser1657Glnfs*7)" "" "0000174938" "00001365" "90" "5271" "0" "5271" "0" "c.5271dup" "r.(?)" "p.(Ser1758Glnfs*7)" "48" "0000245718" "00023880" "50" "3191" "0" "3191" "0" "c.3191T>C" "r.(?)" "p.(Ile1064Thr)" "" "0000245718" "00001365" "50" "3494" "0" "3494" "0" "c.3494T>C" "r.(?)" "p.(Ile1165Thr)" "" "0000245844" "00023880" "10" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Leu331=)" "" "0000245844" "00001365" "10" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Leu331=)" "" "0000246008" "00023880" "50" "750" "0" "750" "0" "c.750T>A" "r.(?)" "p.(Ala250=)" "" "0000246008" "00001365" "50" "750" "0" "750" "0" "c.750T>A" "r.(?)" "p.(Ala250=)" "" "0000246042" "00023880" "50" "1544" "0" "1544" "0" "c.1544T>C" "r.(?)" "p.(Ile515Thr)" "" "0000246042" "00001365" "50" "1571" "0" "1571" "0" "c.1571T>C" "r.(?)" "p.(Ile524Thr)" "" "0000253543" "00023880" "10" "3549" "0" "3549" "0" "c.3549T>C" "r.(?)" "p.(His1183=)" "" "0000253543" "00001365" "10" "3852" "0" "3852" "0" "c.3852T>C" "r.(?)" "p.(His1284=)" "" "0000255812" "00023880" "50" "3191" "0" "3191" "0" "c.3191T>C" "r.(?)" "p.(Ile1064Thr)" "" "0000255812" "00001365" "50" "3494" "0" "3494" "0" "c.3494T>C" "r.(?)" "p.(Ile1165Thr)" "" "0000278527" "00023880" "30" "1314" "7" "1314" "7" "c.1314+7G>T" "r.(=)" "p.(=)" "" "0000278527" "00001365" "30" "1341" "7" "1341" "7" "c.1341+7G>T" "r.(=)" "p.(=)" "" "0000278528" "00023880" "10" "1476" "0" "1476" "0" "c.1476A>G" "r.(?)" "p.(Pro492=)" "" "0000278528" "00001365" "10" "1503" "0" "1503" "0" "c.1503A>G" "r.(?)" "p.(Pro501=)" "" "0000278529" "00023880" "50" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "" "0000278529" "00001365" "50" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Asp555Asn)" "" "0000278530" "00023880" "10" "183" "15" "183" "15" "c.183+15C>T" "r.(=)" "p.(=)" "" "0000278530" "00001365" "10" "183" "15" "183" "15" "c.183+15C>T" "r.(=)" "p.(=)" "" "0000278531" "00023880" "30" "1922" "7" "1922" "7" "c.1922+7C>T" "r.(=)" "p.(=)" "" "0000278531" "00001365" "30" "1949" "7" "1949" "7" "c.1949+7C>T" "r.(=)" "p.(=)" "" "0000278532" "00023880" "30" "1923" "-12" "1923" "-12" "c.1923-12G>A" "r.(=)" "p.(=)" "" "0000278532" "00001365" "30" "1950" "-12" "1950" "-12" "c.1950-12G>A" "r.(=)" "p.(=)" "" "0000278533" "00023880" "30" "2090" "-20" "2090" "-20" "c.2090-20C>T" "r.(=)" "p.(=)" "" "0000278533" "00001365" "30" "2117" "-20" "2117" "-20" "c.2117-20C>T" "r.(=)" "p.(=)" "" "0000278534" "00023880" "10" "2208" "0" "2208" "0" "c.2208C>T" "r.(?)" "p.(Ala736=)" "" "0000278534" "00001365" "10" "2235" "0" "2235" "0" "c.2235C>T" "r.(?)" "p.(Ala745=)" "" "0000278535" "00023880" "10" "2239" "-20" "2239" "-20" "c.2239-20G>A" "r.(=)" "p.(=)" "" "0000278535" "00001365" "10" "2266" "-20" "2266" "-20" "c.2266-20G>A" "r.(=)" "p.(=)" "" "0000278536" "00023880" "30" "2284" "0" "2284" "0" "c.2284C>T" "r.(?)" "p.(Leu762=)" "" "0000278536" "00001365" "30" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Leu771=)" "" "0000278537" "00023880" "10" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Ala786=)" "" "0000278537" "00001365" "10" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Ala795=)" "" "0000278538" "00023880" "30" "2555" "877" "2555" "877" "c.2555+877C>T" "r.(=)" "p.(=)" "" "0000278538" "00001365" "30" "2694" "0" "2694" "0" "c.2694C>T" "r.(?)" "p.(Thr898=)" "" "0000278539" "00023880" "10" "2555" "931" "2555" "936" "c.2555+931_2555+936del" "r.(=)" "p.(=)" "" "0000278539" "00001365" "10" "2748" "0" "2753" "0" "c.2748_2753del" "r.(?)" "p.(Glu916_Glu917del)" "" "0000278540" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936del" "r.(=)" "p.(=)" "" "0000278540" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753del" "r.(?)" "p.(Glu917del)" "" "0000278543" "00023880" "10" "2556" "-18" "2556" "-18" "c.2556-18G>A" "r.(=)" "p.(=)" "" "0000278543" "00001365" "10" "2859" "-18" "2859" "-18" "c.2859-18G>A" "r.(=)" "p.(=)" "" "0000278544" "00023880" "30" "2655" "0" "2655" "0" "c.2655G>C" "r.(?)" "p.(Val885=)" "" "0000278544" "00001365" "30" "2958" "0" "2958" "0" "c.2958G>C" "r.(?)" "p.(Val986=)" "" "0000278545" "00023880" "10" "2674" "13" "2674" "13" "c.2674+13C>T" "r.(=)" "p.(=)" "" "0000278545" "00001365" "10" "2977" "13" "2977" "13" "c.2977+13C>T" "r.(=)" "p.(=)" "" "0000278546" "00023880" "10" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Ala892=)" "" "0000278546" "00001365" "10" "2979" "0" "2979" "0" "c.2979C>T" "r.(?)" "p.(Ala993=)" "" "0000278547" "00023880" "10" "2760" "17" "2760" "17" "c.2760+17C>T" "r.(=)" "p.(=)" "" "0000278547" "00001365" "10" "3063" "17" "3063" "17" "c.3063+17C>T" "r.(=)" "p.(=)" "" "0000278548" "00023880" "10" "2769" "0" "2769" "0" "c.2769C>T" "r.(?)" "p.(Ser923=)" "" "0000278548" "00001365" "10" "3072" "0" "3072" "0" "c.3072C>T" "r.(?)" "p.(Ser1024=)" "" "0000278549" "00023880" "30" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Val928Met)" "" "0000278549" "00001365" "30" "3085" "0" "3085" "0" "c.3085G>A" "r.(?)" "p.(Val1029Met)" "" "0000278550" "00023880" "30" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Ala981=)" "" "0000278550" "00001365" "30" "3246" "0" "3246" "0" "c.3246C>T" "r.(?)" "p.(Ala1082=)" "" "0000278551" "00023880" "10" "2985" "0" "2985" "0" "c.2985C>T" "r.(?)" "p.(Arg995=)" "" "0000278551" "00001365" "10" "3288" "0" "3288" "0" "c.3288C>T" "r.(?)" "p.(Arg1096=)" "" "0000278552" "00023880" "10" "3042" "0" "3042" "0" "c.3042C>G" "r.(?)" "p.(Ala1014=)" "" "0000278552" "00001365" "10" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000278553" "00023880" "10" "3162" "4" "3162" "4" "c.3162+4C>T" "r.spl?" "p.?" "" "0000278553" "00001365" "10" "3465" "4" "3465" "4" "c.3465+4C>T" "r.spl?" "p.?" "" "0000278554" "00023880" "10" "3338" "-8" "3338" "-8" "c.3338-8C>T" "r.(=)" "p.(=)" "" "0000278554" "00001365" "10" "3641" "-8" "3641" "-8" "c.3641-8C>T" "r.(=)" "p.(=)" "" "0000278555" "00023880" "50" "3378" "0" "3378" "0" "c.3378G>A" "r.(?)" "p.(Pro1126=)" "" "0000278555" "00001365" "50" "3681" "0" "3681" "0" "c.3681G>A" "r.(?)" "p.(Pro1227=)" "" "0000278556" "00023880" "10" "4015" "17" "4015" "17" "c.4015+17C>T" "r.(=)" "p.(=)" "" "0000278556" "00001365" "10" "4318" "17" "4318" "17" "c.4318+17C>T" "r.(=)" "p.(=)" "" "0000278557" "00023880" "10" "4016" "-8" "4016" "-8" "c.4016-8C>T" "r.(=)" "p.(=)" "" "0000278557" "00001365" "10" "4319" "-8" "4319" "-8" "c.4319-8C>T" "r.(=)" "p.(=)" "" "0000278558" "00023880" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Ala1434Val)" "" "0000278558" "00001365" "30" "4604" "0" "4604" "0" "c.4604C>T" "r.(?)" "p.(Ala1535Val)" "" "0000278559" "00023880" "10" "4446" "0" "4446" "0" "c.4446C>T" "r.(?)" "p.(Ser1482=)" "" "0000278559" "00001365" "10" "4749" "0" "4749" "0" "c.4749C>T" "r.(?)" "p.(Ser1583=)" "" "0000278560" "00023880" "10" "4509" "0" "4509" "0" "c.4509C>A" "r.(?)" "p.(Thr1503=)" "" "0000278560" "00001365" "10" "4812" "0" "4812" "0" "c.4812C>A" "r.(?)" "p.(Thr1604=)" "" "0000278561" "00023880" "30" "4518" "0" "4518" "0" "c.4518C>T" "r.(?)" "p.(Ser1506=)" "" "0000278561" "00001365" "30" "4821" "0" "4821" "0" "c.4821C>T" "r.(?)" "p.(Ser1607=)" "" "0000278562" "00023880" "10" "4718" "16" "4718" "16" "c.4718+16C>T" "r.(=)" "p.(=)" "" "0000278562" "00001365" "10" "5021" "16" "5021" "16" "c.5021+16C>T" "r.(=)" "p.(=)" "" "0000278563" "00023880" "50" "4852" "0" "4852" "0" "c.4852G>A" "r.(?)" "p.(Val1618Met)" "" "0000278563" "00001365" "50" "5155" "0" "5155" "0" "c.5155G>A" "r.(?)" "p.(Val1719Met)" "" "0000278564" "00023880" "10" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "" "0000278564" "00001365" "10" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "" "0000278565" "00023880" "10" "865" "-20" "865" "-17" "c.865-20_865-17del" "r.(=)" "p.(=)" "" "0000278565" "00001365" "10" "865" "-20" "865" "-17" "c.865-20_865-17del" "r.(=)" "p.(=)" "" "0000281788" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936del" "r.(=)" "p.(=)" "" "0000281788" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753del" "r.(?)" "p.(Glu917del)" "" "0000281789" "00023880" "30" "3042" "0" "3042" "0" "c.3042C>G" "r.(?)" "p.(Ala1014=)" "" "0000281789" "00001365" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000281790" "00023880" "10" "3338" "-8" "3338" "-8" "c.3338-8C>T" "r.(=)" "p.(=)" "" "0000281790" "00001365" "10" "3641" "-8" "3641" "-8" "c.3641-8C>T" "r.(=)" "p.(=)" "" "0000281791" "00023880" "10" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000281791" "00001365" "10" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Arg1296=)" "" "0000281792" "00023880" "30" "4586" "0" "4586" "0" "c.4586G>A" "r.(?)" "p.(Arg1529Gln)" "" "0000281792" "00001365" "30" "4889" "0" "4889" "0" "c.4889G>A" "r.(?)" "p.(Arg1630Gln)" "" "0000285799" "00023880" "30" "2090" "-20" "2090" "-20" "c.2090-20C>T" "r.(=)" "p.(=)" "" "0000285799" "00001365" "30" "2117" "-20" "2117" "-20" "c.2117-20C>T" "r.(=)" "p.(=)" "" "0000285800" "00023880" "30" "2466" "0" "2466" "0" "c.2466G>T" "r.(?)" "p.(Val822=)" "" "0000285800" "00001365" "30" "2493" "0" "2493" "0" "c.2493G>T" "r.(?)" "p.(Val831=)" "" "0000285801" "00023880" "50" "2555" "811" "2555" "811" "c.2555+811C>G" "r.(=)" "p.(=)" "" "0000285801" "00001365" "50" "2628" "0" "2628" "0" "c.2628C>G" "r.(?)" "p.(Cys876Trp)" "" "0000285802" "00023880" "10" "2555" "931" "2555" "936" "c.2555+931_2555+936del" "r.(=)" "p.(=)" "" "0000285802" "00001365" "10" "2748" "0" "2753" "0" "c.2748_2753del" "r.(?)" "p.(Glu916_Glu917del)" "" "0000285803" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936del" "r.(=)" "p.(=)" "" "0000285803" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753del" "r.(?)" "p.(Glu917del)" "" "0000285805" "00023880" "10" "2674" "13" "2674" "13" "c.2674+13C>T" "r.(=)" "p.(=)" "" "0000285805" "00001365" "10" "2977" "13" "2977" "13" "c.2977+13C>T" "r.(=)" "p.(=)" "" "0000285806" "00023880" "30" "4865" "0" "4865" "0" "c.4865C>T" "r.(?)" "p.(Ala1622Val)" "" "0000285806" "00001365" "30" "5168" "0" "5168" "0" "c.5168C>T" "r.(?)" "p.(Ala1723Val)" "" "0000290263" "00023880" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Gly389=)" "" "0000290263" "00001365" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Gly389=)" "" "0000290264" "00023880" "30" "1314" "7" "1314" "7" "c.1314+7G>T" "r.(=)" "p.(=)" "" "0000290264" "00001365" "30" "1341" "7" "1341" "7" "c.1341+7G>T" "r.(=)" "p.(=)" "" "0000290265" "00023880" "30" "1922" "7" "1922" "7" "c.1922+7C>T" "r.(=)" "p.(=)" "" "0000290265" "00001365" "30" "1949" "7" "1949" "7" "c.1949+7C>T" "r.(=)" "p.(=)" "" "0000290266" "00023880" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Ala68=)" "" "0000290266" "00001365" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Ala68=)" "" "0000290267" "00023880" "30" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Pro764=)" "" "0000290267" "00001365" "30" "2319" "0" "2319" "0" "c.2319C>T" "r.(?)" "p.(Pro773=)" "" "0000290268" "00023880" "30" "2555" "862" "2555" "862" "c.2555+862C>T" "r.(=)" "p.(=)" "" "0000290268" "00001365" "30" "2679" "0" "2679" "0" "c.2679C>T" "r.(?)" "p.(Pro893=)" "" "0000290269" "00023880" "10" "2555" "931" "2555" "936" "c.2555+931_2555+936del" "r.(=)" "p.(=)" "" "0000290269" "00001365" "10" "2748" "0" "2753" "0" "c.2748_2753del" "r.(?)" "p.(Glu916_Glu917del)" "" "0000290270" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936del" "r.(=)" "p.(=)" "" "0000290270" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753del" "r.(?)" "p.(Glu917del)" "" "0000290273" "00023880" "30" "2655" "0" "2655" "0" "c.2655G>C" "r.(?)" "p.(Val885=)" "" "0000290273" "00001365" "30" "2958" "0" "2958" "0" "c.2958G>C" "r.(?)" "p.(Val986=)" "" "0000290274" "00023880" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "" "0000290274" "00001365" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Ser)" "" "0000290275" "00023880" "50" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Val928Met)" "" "0000290275" "00001365" "50" "3085" "0" "3085" "0" "c.3085G>A" "r.(?)" "p.(Val1029Met)" "" "0000290276" "00023880" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000290276" "00001365" "50" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000290277" "00023880" "30" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Ala981=)" "" "0000290277" "00001365" "30" "3246" "0" "3246" "0" "c.3246C>T" "r.(?)" "p.(Ala1082=)" "" "0000290278" "00023880" "30" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Pro986Ser)" "" "0000290278" "00001365" "30" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Pro1087Ser)" "" "0000290279" "00023880" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Ala1009=)" "" "0000290279" "00001365" "30" "3330" "0" "3330" "0" "c.3330G>A" "r.(?)" "p.(Ala1110=)" "" "0000290280" "00023880" "30" "3042" "0" "3042" "0" "c.3042C>G" "r.(?)" "p.(Ala1014=)" "" "0000290280" "00001365" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000290281" "00023880" "50" "3472" "0" "3472" "0" "c.3472C>T" "r.(?)" "p.(Arg1158Cys)" "" "0000290281" "00001365" "50" "3775" "0" "3775" "0" "c.3775C>T" "r.(?)" "p.(Arg1259Cys)" "" "0000290282" "00023880" "30" "3675" "0" "3675" "0" "c.3675C>T" "r.(?)" "p.(Ser1225=)" "" "0000290282" "00001365" "30" "3978" "0" "3978" "0" "c.3978C>T" "r.(?)" "p.(Ser1326=)" "" "0000290283" "00023880" "50" "3905" "0" "3905" "0" "c.3905G>A" "r.(?)" "p.(Arg1302His)" "" "0000290283" "00001365" "50" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Arg1403His)" "" "0000290284" "00023880" "30" "4162" "-10" "4162" "-10" "c.4162-10C>T" "r.(=)" "p.(=)" "" "0000290284" "00001365" "30" "4465" "-10" "4465" "-10" "c.4465-10C>T" "r.(=)" "p.(=)" "" "0000290285" "00023880" "50" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Thr1403Ile)" "" "0000290285" "00001365" "50" "4511" "0" "4511" "0" "c.4511C>T" "r.(?)" "p.(Thr1504Ile)" "" "0000290286" "00023880" "50" "4309" "0" "4309" "0" "c.4309C>T" "r.(?)" "p.(Arg1437Cys)" "" "0000290286" "00001365" "50" "4612" "0" "4612" "0" "c.4612C>T" "r.(?)" "p.(Arg1538Cys)" "" "0000290287" "00023880" "30" "4446" "0" "4446" "0" "c.4446C>T" "r.(?)" "p.(Ser1482=)" "" "0000290287" "00001365" "30" "4749" "0" "4749" "0" "c.4749C>T" "r.(?)" "p.(Ser1583=)" "" "0000290288" "00023880" "50" "4468" "0" "4468" "0" "c.4468C>T" "r.(?)" "p.(Arg1490Trp)" "" "0000290288" "00001365" "50" "4771" "0" "4771" "0" "c.4771C>T" "r.(?)" "p.(Arg1591Trp)" "" "0000290289" "00023880" "30" "4487" "0" "4487" "0" "c.4487C>T" "r.(?)" "p.(Pro1496Leu)" "" "0000290289" "00001365" "30" "4790" "0" "4790" "0" "c.4790C>T" "r.(?)" "p.(Pro1597Leu)" "" "0000290290" "00023880" "30" "4620" "0" "4620" "0" "c.4620G>C" "r.(?)" "p.(Glu1540Asp)" "" "0000290290" "00001365" "30" "4923" "0" "4923" "0" "c.4923G>C" "r.(?)" "p.(Glu1641Asp)" "" "0000290291" "00023880" "30" "4635" "0" "4635" "0" "c.4635G>A" "r.(?)" "p.(Lys1545=)" "" "0000290291" "00001365" "30" "4938" "0" "4938" "0" "c.4938G>A" "r.(?)" "p.(Lys1646=)" "" "0000290292" "00023880" "50" "563" "0" "565" "0" "c.563_565del" "r.(?)" "p.(Ser188del)" "" "0000290292" "00001365" "50" "563" "0" "565" "0" "c.563_565del" "r.(?)" "p.(Ser188del)" "" "0000290293" "00023880" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Gln193=)" "" "0000290293" "00001365" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Gln193=)" "" "0000290294" "00023880" "90" "798" "1" "798" "1" "c.798+1G>A" "r.spl?" "p.?" "" "0000290294" "00001365" "90" "798" "1" "798" "1" "c.798+1G>A" "r.spl?" "p.?" "" "0000328248" "00023880" "30" "2555" "937" "2555" "937" "c.2555+937T>G" "r.(=)" "p.(=)" "" "0000328248" "00001365" "30" "2754" "0" "2754" "0" "c.2754T>G" "r.(?)" "p.(Asp918Glu)" "" "0000328249" "00023880" "50" "2555" "934" "2555" "936" "c.2555+934_2555+936dup" "r.(=)" "p.(=)" "" "0000328249" "00001365" "50" "2751" "0" "2753" "0" "c.2751_2753dup" "r.(?)" "p.(Glu917dup)" "" "0000328252" "00023880" "50" "2555" "931" "2555" "936" "c.2555+931_2555+936del" "r.(=)" "p.(=)" "" "0000328252" "00001365" "50" "2748" "0" "2753" "0" "c.2748_2753del" "r.(?)" "p.(Glu916_Glu917del)" "" "0000328253" "00023880" "50" "2555" "934" "2555" "936" "c.2555+934_2555+936del" "r.(=)" "p.(=)" "" "0000328253" "00001365" "50" "2751" "0" "2753" "0" "c.2751_2753del" "r.(?)" "p.(Glu917del)" "" "0000328256" "00023880" "50" "2330" "0" "2330" "0" "c.2330C>T" "r.(?)" "p.(Thr777Met)" "" "0000328256" "00001365" "50" "2357" "0" "2357" "0" "c.2357C>T" "r.(?)" "p.(Thr786Met)" "" "0000328257" "00023880" "50" "1520" "0" "1520" "0" "c.1520del" "r.(?)" "p.(Leu507ArgfsTer25)" "" "0000328257" "00001365" "50" "1547" "0" "1547" "0" "c.1547del" "r.(?)" "p.(Leu516ArgfsTer25)" "" "0000328258" "00023880" "50" "1306" "0" "1306" "0" "c.1306del" "r.(?)" "p.(Arg436AspfsTer2)" "" "0000328258" "00001365" "50" "1333" "0" "1333" "0" "c.1333del" "r.(?)" "p.(Arg445AspfsTer2)" "" "0000328259" "00023880" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Ala68Thr)" "" "0000328259" "00001365" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Ala68Thr)" "" "0000336338" "00023880" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Arg316Gln)" "" "0000337607" "00023880" "10" "3338" "-8" "3338" "-8" "c.3338-8C>T" "r.(=)" "p.(=)" "" "0000337607" "00001365" "10" "3641" "-8" "3641" "-8" "c.3641-8C>T" "r.(=)" "p.(=)" "" "0000337609" "00023880" "10" "2674" "13" "2674" "13" "c.2674+13C>T" "r.(=)" "p.(=)" "" "0000337609" "00001365" "10" "2977" "13" "2977" "13" "c.2977+13C>T" "r.(=)" "p.(=)" "" "0000337610" "00023880" "10" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "" "0000337610" "00001365" "10" "864" "16" "864" "16" "c.864+16C>T" "r.(=)" "p.(=)" "" "0000340850" "00023880" "10" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Leu331=)" "" "0000340850" "00001365" "10" "991" "0" "991" "0" "c.991T>C" "r.(?)" "p.(Leu331=)" "" "0000340990" "00023880" "10" "4509" "0" "4509" "0" "c.4509C>A" "r.(?)" "p.(Thr1503=)" "" "0000340990" "00001365" "10" "4812" "0" "4812" "0" "c.4812C>A" "r.(?)" "p.(Thr1604=)" "" "0000341557" "00023880" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0000341557" "00001365" "50" "203" "0" "203" "0" "c.203C>T" "r.(?)" "p.(Ala68Val)" "" "0000341904" "00023880" "90" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Cys)" "" "0000341904" "00001365" "90" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Cys)" "" "0000341929" "00023880" "50" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344His)" "" "0000341929" "00001365" "50" "4334" "0" "4334" "0" "c.4334G>A" "r.(?)" "p.(Arg1445His)" "" "0000342047" "00023880" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000342047" "00001365" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000342097" "00023880" "50" "5066" "0" "5066" "0" "c.5066G>A" "r.(?)" "p.(Arg1689Gln)" "" "0000342097" "00001365" "50" "5369" "0" "5369" "0" "c.5369G>A" "r.(?)" "p.(Arg1790Gln)" "" "0000342617" "00023880" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "" "0000342617" "00001365" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "" "0000342703" "00023880" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "0000342703" "00001365" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "0000342774" "00023880" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0000342774" "00001365" "70" "1138" "0" "1138" "0" "c.1138C>T" "r.(?)" "p.(Arg380Trp)" "" "0000343650" "00023880" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asn211Lys)" "" "0000343650" "00001365" "70" "633" "0" "633" "0" "c.633T>A" "r.(?)" "p.(Asn211Lys)" "" "0000344922" "00023880" "50" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Gln623Ter)" "" "0000344922" "00001365" "50" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Gln632Ter)" "" "0000345518" "00023880" "30" "2062" "0" "2062" "0" "c.2062G>A" "r.(?)" "p.(Glu688Lys)" "" "0000345518" "00001365" "30" "2089" "0" "2089" "0" "c.2089G>A" "r.(?)" "p.(Glu697Lys)" "" "0000348868" "00023880" "50" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Ser252Arg)" "" "0000348868" "00001365" "50" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Ser252Arg)" "" "0000349110" "00023880" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Leu)" "" "0000349110" "00001365" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Leu)" "" "0000349461" "00023880" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "" "0000349461" "00001365" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "" "0000349915" "00023880" "50" "3975" "0" "3975" "0" "c.3975C>G" "r.(?)" "p.(Tyr1325Ter)" "" "0000349915" "00001365" "50" "4278" "0" "4278" "0" "c.4278C>G" "r.(?)" "p.(Tyr1426Ter)" "" "0000350345" "00023880" "50" "4840" "0" "4840" "0" "c.4840G>A" "r.(?)" "p.(Val1614Met)" "" "0000350345" "00001365" "50" "5143" "0" "5143" "0" "c.5143G>A" "r.(?)" "p.(Val1715Met)" "" "0000351070" "00023880" "50" "4911" "5" "4911" "5" "c.4911+5G>A" "r.spl?" "p.?" "" "0000351070" "00001365" "50" "5214" "5" "5214" "5" "c.5214+5G>A" "r.spl?" "p.?" "" "0000351071" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936del" "r.(=)" "p.(=)" "" "0000351071" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753del" "r.(?)" "p.(Glu917del)" "" "0000351072" "00023880" "50" "219" "0" "219" "0" "c.219G>A" "r.(?)" "p.(Val73=)" "" "0000351072" "00001365" "50" "219" "0" "219" "0" "c.219G>A" "r.(?)" "p.(Val73=)" "" "0000368380" "00023880" "70" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Pro305Leu)" "" "0000440889" "00023880" "90" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0000442478" "00023880" "50" "2467" "0" "2467" "0" "c.2467C>T" "r.(?)" "p.Pro823Ser" "" "0000442705" "00023880" "50" "3400" "0" "3400" "0" "c.3400G>A" "r.(?)" "p.Asp1134Asn" "" "0000459005" "00023880" "70" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Met30Thr)" "2" "0000459005" "00001365" "70" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Met30Thr)" "2" "0000459007" "00023880" "70" "167" "0" "167" "0" "c.167A>G" "r.(?)" "p.(Tyr56Cys)" "3" "0000459009" "00023880" "70" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(Tyr74Cys)" "4" "0000459010" "00023880" "70" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Gly78Ser)" "4" "0000459011" "00023880" "70" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Thr106Asn)" "" "0000459011" "00001365" "70" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Thr106Asn)" "4" "0000459012" "00023880" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167His)" "6" "0000459012" "00001365" "70" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167His)" "" "0000459013" "00023880" "70" "518" "0" "518" "0" "c.518T>C" "r.(?)" "p.(Leu173Pro)" "6" "0000459013" "00001365" "70" "518" "0" "518" "0" "c.518T>C" "r.(?)" "p.(Leu173Pro)" "" "0000459014" "00023880" "70" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Ser252Arg)" "" "0000459014" "00001365" "70" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Ser252Arg)" "" "0000459030" "00023880" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000459030" "00001365" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000459031" "00023880" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "0000459031" "00001365" "70" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "0000459032" "00023880" "70" "1379" "0" "1379" "0" "c.1379C>G" "r.(?)" "p.(Ala460Gly)" "" "0000459032" "00001365" "70" "1406" "0" "1406" "0" "c.1406C>G" "r.(?)" "p.(Ala469Gly)" "" "0000459033" "00023880" "70" "1867" "0" "1867" "0" "c.1867C>T" "r.(?)" "p.(Gln623*)" "" "0000459033" "00001365" "70" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Gln632*)" "" "0000459034" "00023880" "70" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Cys)" "" "0000459034" "00001365" "70" "2554" "0" "2554" "0" "c.2554C>T" "r.(?)" "p.(Arg852Cys)" "" "0000459035" "00023880" "70" "2577" "0" "2577" "0" "c.2577C>A" "r.(?)" "p.(Asn859Lys)" "" "0000459035" "00001365" "70" "2880" "0" "2880" "0" "c.2880C>A" "r.(?)" "p.(Asn960Lys)" "" "0000459036" "00023880" "70" "3975" "0" "3975" "0" "c.3975C>G" "r.(?)" "p.(Tyr1325*)" "" "0000459036" "00001365" "70" "4278" "0" "4278" "0" "c.4278C>G" "r.(?)" "p.(Tyr1426*)" "" "0000459037" "00023880" "70" "4292" "0" "4292" "0" "c.4292del" "r.(?)" "p.(Pro1431Argfs*67)" "" "0000459037" "00001365" "70" "4595" "0" "4595" "0" "c.4595del" "r.(?)" "p.(Pro1532Argfs*67)" "" "0000459038" "00023880" "70" "4740" "0" "4740" "0" "c.4740dup" "r.(?)" "p.(Tyr1581Valfs*50)" "" "0000459038" "00001365" "70" "5043" "0" "5043" "0" "c.5043dup" "r.(?)" "p.(Tyr1682Valfs*50)" "" "0000459039" "00023880" "70" "4292" "0" "4292" "0" "c.4292del" "r.(?)" "p.(Pro1431Argfs*67)" "" "0000459039" "00001365" "70" "4595" "0" "4595" "0" "c.4595del" "r.(?)" "p.(Pro1532Argfs*67)" "" "0000498905" "00023880" "90" "-22556" "0" "8673" "0" "c.(?_-22556)_(*3600_?)del" "r.0?" "p.0?" "" "0000498905" "00001365" "90" "-247" "0" "8976" "0" "c.(?_-247)_(*3600_?)del" "r.0?" "p.0?" "" "0000499790" "00023880" "70" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Leu)" "" "0000499790" "00001365" "70" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Leu)" "" "0000500686" "00023880" "70" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Ser252Arg)" "8" "0000500686" "00001365" "70" "756" "0" "756" "0" "c.756C>G" "r.(?)" "p.(Ser252Arg)" "" "0000500687" "00023880" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000500687" "00001365" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000500688" "00023880" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000500688" "00001365" "70" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000500689" "00023880" "70" "2527" "0" "2527" "0" "c.2527C>T" "r.(?)" "p.(Arg843Cys)" "" "0000500689" "00001365" "70" "2554" "0" "2554" "0" "c.2554C>T" "r.(?)" "p.(Arg852Cys)" "" "0000515312" "00023880" "30" "5066" "0" "5066" "0" "c.5066G>C" "r.(?)" "p.(Arg1689Pro)" "" "0000515312" "00001365" "30" "5369" "0" "5369" "0" "c.5369G>C" "r.(?)" "p.(Arg1790Pro)" "" "0000515313" "00023880" "30" "4981" "0" "4981" "0" "c.4981A>G" "r.(?)" "p.(Met1661Val)" "" "0000515313" "00001365" "30" "5284" "0" "5284" "0" "c.5284A>G" "r.(?)" "p.(Met1762Val)" "" "0000515314" "00023880" "30" "4929" "0" "4929" "0" "c.4929G>A" "r.(?)" "p.(Ala1643=)" "" "0000515314" "00001365" "30" "5232" "0" "5232" "0" "c.5232G>A" "r.(?)" "p.(Ala1744=)" "" "0000515315" "00023880" "30" "4908" "0" "4908" "0" "c.4908C>G" "r.(?)" "p.(Leu1636=)" "" "0000515315" "00001365" "30" "5211" "0" "5211" "0" "c.5211C>G" "r.(?)" "p.(Leu1737=)" "" "0000515316" "00023880" "30" "4767" "0" "4767" "0" "c.4767G>A" "r.(?)" "p.(Thr1589=)" "" "0000515316" "00001365" "30" "5070" "0" "5070" "0" "c.5070G>A" "r.(?)" "p.(Thr1690=)" "" "0000515317" "00023880" "30" "4695" "0" "4695" "0" "c.4695T>C" "r.(?)" "p.(Pro1565=)" "" "0000515317" "00001365" "30" "4998" "0" "4998" "0" "c.4998T>C" "r.(?)" "p.(Pro1666=)" "" "0000515318" "00023880" "30" "4623" "0" "4623" "0" "c.4623C>T" "r.(?)" "p.(Ala1541=)" "" "0000515318" "00001365" "30" "4926" "0" "4926" "0" "c.4926C>T" "r.(?)" "p.(Ala1642=)" "" "0000515320" "00023880" "50" "4595" "0" "4595" "0" "c.4595G>T" "r.(?)" "p.(Ser1532Ile)" "" "0000515320" "00001365" "50" "4898" "0" "4898" "0" "c.4898G>T" "r.(?)" "p.(Ser1633Ile)" "" "0000515321" "00023880" "50" "4571" "0" "4571" "0" "c.4571C>T" "r.(?)" "p.(Pro1524Leu)" "" "0000515321" "00001365" "50" "4874" "0" "4874" "0" "c.4874C>T" "r.(?)" "p.(Pro1625Leu)" "" "0000515322" "00023880" "10" "4509" "0" "4509" "0" "c.4509C>A" "r.(?)" "p.(Thr1503=)" "" "0000515322" "00001365" "10" "4812" "0" "4812" "0" "c.4812C>A" "r.(?)" "p.(Thr1604=)" "" "0000515323" "00023880" "50" "4507" "0" "4507" "0" "c.4507A>G" "r.(?)" "p.(Thr1503Ala)" "" "0000515323" "00001365" "50" "4810" "0" "4810" "0" "c.4810A>G" "r.(?)" "p.(Thr1604Ala)" "" "0000515324" "00023880" "50" "4468" "0" "4468" "0" "c.4468C>T" "r.(?)" "p.(Arg1490Trp)" "" "0000515324" "00001365" "50" "4771" "0" "4771" "0" "c.4771C>T" "r.(?)" "p.(Arg1591Trp)" "" "0000515325" "00023880" "30" "4413" "0" "4413" "0" "c.4413C>T" "r.(?)" "p.(His1471=)" "" "0000515325" "00001365" "30" "4716" "0" "4716" "0" "c.4716C>T" "r.(?)" "p.(His1572=)" "" "0000515326" "00023880" "30" "4363" "-5" "4363" "-5" "c.4363-5C>T" "r.spl?" "p.?" "" "0000515326" "00001365" "30" "4666" "-5" "4666" "-5" "c.4666-5C>T" "r.spl?" "p.?" "" "0000515327" "00023880" "10" "4363" "-18" "4363" "-18" "c.4363-18C>T" "r.(=)" "p.(=)" "" "0000515327" "00001365" "10" "4666" "-18" "4666" "-18" "c.4666-18C>T" "r.(=)" "p.(=)" "" "0000515328" "00023880" "70" "4292" "0" "4292" "0" "c.4292del" "r.(?)" "p.(Pro1431ArgfsTer67)" "" "0000515328" "00001365" "70" "4595" "0" "4595" "0" "c.4595del" "r.(?)" "p.(Pro1532ArgfsTer67)" "" "0000515329" "00023880" "30" "4271" "0" "4271" "0" "c.4271G>C" "r.(?)" "p.(Gly1424Ala)" "" "0000515329" "00001365" "30" "4574" "0" "4574" "0" "c.4574G>C" "r.(?)" "p.(Gly1525Ala)" "" "0000515330" "00023880" "30" "4218" "0" "4218" "0" "c.4218G>T" "r.(?)" "p.(Arg1406=)" "" "0000515330" "00001365" "30" "4521" "0" "4521" "0" "c.4521G>T" "r.(?)" "p.(Arg1507=)" "" "0000515332" "00023880" "50" "3854" "0" "3854" "0" "c.3854A>G" "r.(?)" "p.(Lys1285Arg)" "" "0000515332" "00001365" "50" "4157" "0" "4157" "0" "c.4157A>G" "r.(?)" "p.(Lys1386Arg)" "" "0000515333" "00023880" "10" "3598" "11" "3598" "11" "c.3598+11T>C" "r.(=)" "p.(=)" "" "0000515333" "00001365" "10" "3901" "11" "3901" "11" "c.3901+11T>C" "r.(=)" "p.(=)" "" "0000515334" "00023880" "30" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000515334" "00001365" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Arg1296=)" "" "0000515335" "00023880" "50" "3514" "-1" "3514" "-1" "c.3514-1G>A" "r.spl?" "p.?" "" "0000515335" "00001365" "50" "3817" "-1" "3817" "-1" "c.3817-1G>A" "r.spl?" "p.?" "" "0000515336" "00023880" "30" "3491" "0" "3491" "0" "c.3491T>C" "r.(?)" "p.(Met1164Thr)" "" "0000515336" "00001365" "30" "3794" "0" "3794" "0" "c.3794T>C" "r.(?)" "p.(Met1265Thr)" "" "0000515337" "00023880" "30" "3438" "0" "3438" "0" "c.3438C>T" "r.(?)" "p.(Ala1146=)" "" "0000515337" "00001365" "30" "3741" "0" "3741" "0" "c.3741C>T" "r.(?)" "p.(Ala1247=)" "" "0000515338" "00023880" "30" "3368" "0" "3368" "0" "c.3368G>A" "r.(?)" "p.(Arg1123Gln)" "" "0000515338" "00001365" "30" "3671" "0" "3671" "0" "c.3671G>A" "r.(?)" "p.(Arg1224Gln)" "" "0000515339" "00023880" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Thr1122Met)" "" "0000515339" "00001365" "30" "3668" "0" "3668" "0" "c.3668C>T" "r.(?)" "p.(Thr1223Met)" "" "0000515340" "00023880" "50" "3191" "0" "3191" "0" "c.3191T>C" "r.(?)" "p.(Ile1064Thr)" "" "0000515340" "00001365" "50" "3494" "0" "3494" "0" "c.3494T>C" "r.(?)" "p.(Ile1165Thr)" "" "0000515341" "00023880" "30" "3136" "0" "3136" "0" "c.3136C>G" "r.(?)" "p.(Pro1046Ala)" "" "0000515341" "00001365" "30" "3439" "0" "3439" "0" "c.3439C>G" "r.(?)" "p.(Pro1147Ala)" "" "0000515342" "00023880" "30" "3042" "0" "3042" "0" "c.3042C>G" "r.(?)" "p.(Ala1014=)" "" "0000515342" "00001365" "30" "3345" "0" "3345" "0" "c.3345C>G" "r.(?)" "p.(Ala1115=)" "" "0000515343" "00023880" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Ala1009=)" "" "0000515343" "00001365" "30" "3330" "0" "3330" "0" "c.3330G>A" "r.(?)" "p.(Ala1110=)" "" "0000515344" "00023880" "10" "2979" "0" "2979" "0" "c.2979C>T" "r.(?)" "p.(His993=)" "" "0000515344" "00001365" "10" "3282" "0" "3282" "0" "c.3282C>T" "r.(?)" "p.(His1094=)" "" "0000515345" "00023880" "10" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Pro986Ser)" "" "0000515345" "00001365" "10" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Pro1087Ser)" "" "0000515346" "00023880" "30" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Pro986Ser)" "" "0000515346" "00001365" "30" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Pro1087Ser)" "" "0000515347" "00023880" "30" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Pro986Ser)" "" "0000515347" "00001365" "30" "3259" "0" "3259" "0" "c.3259C>T" "r.(?)" "p.(Pro1087Ser)" "" "0000515348" "00023880" "30" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Val928Met)" "" "0000515348" "00001365" "30" "3085" "0" "3085" "0" "c.3085G>A" "r.(?)" "p.(Val1029Met)" "" "0000515349" "00023880" "30" "2616" "0" "2616" "0" "c.2616C>T" "r.(?)" "p.(Ile872=)" "" "0000515349" "00001365" "30" "2919" "0" "2919" "0" "c.2919C>T" "r.(?)" "p.(Ile973=)" "" "0000515350" "00023880" "30" "2595" "0" "2595" "0" "c.2595C>G" "r.(?)" "p.(Pro865=)" "" "0000515350" "00001365" "30" "2898" "0" "2898" "0" "c.2898C>G" "r.(?)" "p.(Pro966=)" "" "0000515351" "00023880" "30" "2555" "1061" "2555" "1061" "c.2555+1061G>A" "r.(=)" "p.(=)" "" "0000515351" "00001365" "30" "2858" "20" "2858" "20" "c.2858+20G>A" "r.(=)" "p.(=)" "" "0000515352" "00023880" "50" "2555" "996" "2555" "996" "c.2555+996G>A" "r.(=)" "p.(=)" "" "0000515352" "00001365" "50" "2813" "0" "2813" "0" "c.2813G>A" "r.(?)" "p.(Arg938Gln)" "" "0000515353" "00023880" "30" "2555" "996" "2555" "996" "c.2555+996G>A" "r.(=)" "p.(=)" "" "0000515353" "00001365" "30" "2813" "0" "2813" "0" "c.2813G>A" "r.(?)" "p.(Arg938Gln)" "" "0000515354" "00023880" "30" "2555" "996" "2555" "996" "c.2555+996G>A" "r.(=)" "p.(=)" "" "0000515354" "00001365" "30" "2813" "0" "2813" "0" "c.2813G>A" "r.(?)" "p.(Arg938Gln)" "" "0000515355" "00023880" "50" "2555" "937" "2555" "939" "c.2555+937_2555+939del" "r.(=)" "p.(=)" "" "0000515355" "00001365" "50" "2754" "0" "2756" "0" "c.2754_2756del" "r.(?)" "p.(Asp918del)" "" "0000515357" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936dup" "r.(=)" "p.(=)" "" "0000515357" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753dup" "r.(?)" "p.(Glu917dup)" "" "0000515358" "00023880" "10" "2555" "934" "2555" "936" "c.2555+934_2555+936dup" "r.(=)" "p.(=)" "" "0000515358" "00001365" "10" "2751" "0" "2753" "0" "c.2751_2753dup" "r.(?)" "p.(Glu917dup)" "" "0000515359" "00023880" "30" "2555" "934" "2555" "936" "c.2555+934_2555+936dup" "r.(=)" "p.(=)" "" "0000515359" "00001365" "30" "2751" "0" "2753" "0" "c.2751_2753dup" "r.(?)" "p.(Glu917dup)" "" "0000515360" "00023880" "10" "2448" "0" "2448" "0" "c.2448C>T" "r.(?)" "p.(Tyr816=)" "" "0000515360" "00001365" "10" "2475" "0" "2475" "0" "c.2475C>T" "r.(?)" "p.(Tyr825=)" "" "0000515361" "00023880" "30" "2412" "0" "2412" "0" "c.2412G>A" "r.(?)" "p.(Lys804=)" "" "0000515361" "00001365" "30" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(Lys813=)" "" "0000515362" "00023880" "30" "2120" "0" "2120" "0" "c.2120C>T" "r.(?)" "p.(Ala707Val)" "" "0000515362" "00001365" "30" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Ala716Val)" "" "0000515363" "00023880" "30" "2074" "0" "2076" "0" "c.2074_2076dup" "r.(?)" "p.(Glu692dup)" "" "0000515363" "00001365" "30" "2101" "0" "2103" "0" "c.2101_2103dup" "r.(?)" "p.(Glu701dup)" "" "0000515364" "00023880" "30" "1922" "7" "1922" "7" "c.1922+7C>T" "r.(=)" "p.(=)" "" "0000515364" "00001365" "30" "1949" "7" "1949" "7" "c.1949+7C>T" "r.(=)" "p.(=)" "" "0000515365" "00023880" "30" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Ala470=)" "" "0000515365" "00001365" "30" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(Ala479=)" "" "0000515366" "00023880" "30" "1394" "19" "1394" "19" "c.1394+19G>A" "r.(=)" "p.(=)" "" "0000515366" "00001365" "30" "1421" "19" "1421" "19" "c.1421+19G>A" "r.(=)" "p.(=)" "" "0000515367" "00023880" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(Ser430=)" "" "0000515367" "00001365" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(Ser439=)" "" "0000515368" "00023880" "30" "1181" "-42" "1181" "-42" "c.1181-42G>A" "r.(=)" "p.(=)" "" "0000515368" "00001365" "30" "1208" "-42" "1208" "-42" "c.1208-42G>A" "r.(=)" "p.(=)" "" "0000515369" "00023880" "30" "1181" "-68" "1181" "-68" "c.1181-68C>T" "r.(=)" "p.(=)" "" "0000515369" "00001365" "30" "1208" "-68" "1208" "-68" "c.1208-68C>T" "r.(=)" "p.(=)" "" "0000515370" "00023880" "30" "1180" "500" "1180" "500" "c.1180+500C>T" "r.(=)" "p.(=)" "" "0000515370" "00001365" "30" "1181" "-18" "1181" "-18" "c.1181-18C>T" "r.(=)" "p.(=)" "" "0000515371" "00023880" "90" "1007" "0" "1009" "0" "c.1007_1009del" "r.(?)" "p.(Ile336del)" "" "0000515371" "00001365" "90" "1007" "0" "1009" "0" "c.1007_1009del" "r.(?)" "p.(Ile336del)" "" "0000515372" "00023880" "90" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Pro305Leu)" "" "0000515372" "00001365" "90" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Pro305Leu)" "" "0000515373" "00023880" "30" "864" "11" "864" "11" "c.864+11C>T" "r.(=)" "p.(=)" "" "0000515373" "00001365" "30" "864" "11" "864" "11" "c.864+11C>T" "r.(=)" "p.(=)" "" "0000515374" "00023880" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000515374" "00001365" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0000515375" "00023880" "70" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ser274Leu)" "" "0000515375" "00001365" "70" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ser274Leu)" "" "0000515376" "00023880" "90" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000515376" "00001365" "90" "773" "0" "773" "0" "c.773C>T" "r.(?)" "p.(Thr258Met)" "" "0000515377" "00023880" "50" "763" "0" "763" "0" "c.763G>C" "r.(?)" "p.(Ala255Pro)" "" "0000515377" "00001365" "50" "763" "0" "763" "0" "c.763G>C" "r.(?)" "p.(Ala255Pro)" "" "0000515378" "00023880" "30" "720" "5" "720" "5" "c.720+5G>C" "r.spl?" "p.?" "" "0000515378" "00001365" "30" "720" "5" "720" "5" "c.720+5G>C" "r.spl?" "p.?" "" "0000515379" "00023880" "30" "720" "5" "720" "5" "c.720+5G>C" "r.spl?" "p.?" "" "0000515379" "00001365" "30" "720" "5" "720" "5" "c.720+5G>C" "r.spl?" "p.?" "" "0000515380" "00023880" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Thr238=)" "" "0000515380" "00001365" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Thr238=)" "" "0000515381" "00023880" "50" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000515381" "00001365" "50" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000515382" "00023880" "70" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000515382" "00001365" "70" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000515383" "00023880" "70" "467" "0" "467" "0" "c.467A>T" "r.(?)" "p.(Asp156Val)" "" "0000515383" "00001365" "70" "467" "0" "467" "0" "c.467A>T" "r.(?)" "p.(Asp156Val)" "" "0000515384" "00023880" "30" "430" "-8" "430" "-8" "c.430-8C>T" "r.(=)" "p.(=)" "" "0000515384" "00001365" "30" "430" "-8" "430" "-8" "c.430-8C>T" "r.(=)" "p.(=)" "" "0000515385" "00023880" "10" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asn131=)" "" "0000515385" "00001365" "10" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asn131=)" "" "0000515386" "00023880" "50" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Ile130Met)" "" "0000515386" "00001365" "50" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Ile130Met)" "" "0000515387" "00023880" "30" "363" "7" "363" "7" "c.363+7A>G" "r.(=)" "p.(=)" "" "0000515387" "00001365" "30" "363" "7" "363" "7" "c.363+7A>G" "r.(=)" "p.(=)" "" "0000515388" "00023880" "30" "363" "7" "363" "7" "c.363+7A>G" "r.(=)" "p.(=)" "" "0000515388" "00001365" "30" "363" "7" "363" "7" "c.363+7A>G" "r.(=)" "p.(=)" "" "0000515389" "00023880" "90" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Thr106Asn)" "" "0000515389" "00001365" "90" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Thr106Asn)" "" "0000515390" "00023880" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" "" "0000515390" "00001365" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" "" "0000515391" "00023880" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000515391" "00001365" "90" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000515392" "00023880" "70" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Leu)" "" "0000515392" "00001365" "70" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Leu)" "" "0000515393" "00023880" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Ala68=)" "" "0000515393" "00001365" "30" "204" "0" "204" "0" "c.204G>T" "r.(?)" "p.(Ala68=)" "" "0000515394" "00023880" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "" "0000515394" "00001365" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "" "0000515395" "00023880" "50" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Met30Thr)" "" "0000515395" "00001365" "50" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Met30Thr)" "" "0000515396" "00023880" "50" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "" "0000515396" "00001365" "50" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "" "0000607845" "00023880" "70" "4711" "0" "4711" "0" "c.4711C>T" "r.(?)" "p.(Arg1571Ter)" "" "0000607845" "00001365" "70" "5014" "0" "5014" "0" "c.5014C>T" "r.(?)" "p.(Arg1672Ter)" "" "0000607846" "00023880" "50" "4639" "0" "4639" "0" "c.4639C>T" "r.(?)" "p.(Pro1547Ser)" "" "0000607846" "00001365" "50" "4942" "0" "4942" "0" "c.4942C>T" "r.(?)" "p.(Pro1648Ser)" "" "0000607847" "00023880" "30" "4586" "0" "4586" "0" "c.4586G>A" "r.(?)" "p.(Arg1529Gln)" "" "0000607847" "00001365" "30" "4889" "0" "4889" "0" "c.4889G>A" "r.(?)" "p.(Arg1630Gln)" "" "0000607850" "00023880" "50" "3343" "0" "3343" "0" "c.3343G>A" "r.(?)" "p.(Ala1115Thr)" "" "0000607850" "00001365" "50" "3646" "0" "3646" "0" "c.3646G>A" "r.(?)" "p.(Ala1216Thr)" "" "0000607851" "00023880" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Ala330Val)" "" "0000607851" "00001365" "50" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Ala330Val)" "" "0000607852" "00023880" "90" "652" "0" "652" "0" "c.652C>G" "r.(?)" "p.(His218Asp)" "" "0000607852" "00001365" "90" "652" "0" "652" "0" "c.652C>G" "r.(?)" "p.(His218Asp)" "" "0000607853" "00023880" "30" "-13" "0" "-13" "0" "c.-13G>A" "r.(?)" "p.(=)" "" "0000607853" "00001365" "30" "-13" "0" "-13" "0" "c.-13G>A" "r.(?)" "p.(=)" "" "0000621002" "00023880" "10" "4740" "0" "4740" "0" "c.4740G>A" "r.(?)" "p.(Gly1580=)" "" "0000621002" "00001365" "10" "5043" "0" "5043" "0" "c.5043G>A" "r.(?)" "p.(Gly1681=)" "" "0000621003" "00023880" "10" "3840" "0" "3840" "0" "c.3840G>A" "r.(?)" "p.(Pro1280=)" "" "0000621003" "00001365" "10" "4143" "0" "4143" "0" "c.4143G>A" "r.(?)" "p.(Pro1381=)" "" "0000621004" "00023880" "30" "3704" "7" "3704" "7" "c.3704+7C>T" "r.(=)" "p.(=)" "" "0000621004" "00001365" "30" "4007" "7" "4007" "7" "c.4007+7C>T" "r.(=)" "p.(=)" "" "0000621005" "00023880" "50" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Val928Met)" "" "0000621005" "00001365" "50" "3085" "0" "3085" "0" "c.3085G>A" "r.(?)" "p.(Val1029Met)" "" "0000621006" "00023880" "30" "883" "-5" "883" "-5" "c.883-5C>A" "r.spl?" "p.?" "" "0000621006" "00001365" "30" "883" "-5" "883" "-5" "c.883-5C>A" "r.spl?" "p.?" "" "0000621007" "00023880" "30" "720" "5" "720" "5" "c.720+5G>A" "r.spl?" "p.?" "" "0000621007" "00001365" "30" "720" "5" "720" "5" "c.720+5G>A" "r.spl?" "p.?" "" "0000631919" "00023880" "70" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Thr341Ala)" "" "0000650518" "00023880" "30" "6816" "0" "6816" "0" "c.*1743G>A" "r.(=)" "p.(=)" "" "0000650518" "00001365" "30" "7119" "0" "7119" "0" "c.*1743G>A" "r.(=)" "p.(=)" "" "0000650519" "00023880" "50" "4468" "0" "4468" "0" "c.4468C>T" "r.(?)" "p.(Arg1490Trp)" "" "0000650519" "00001365" "50" "4771" "0" "4771" "0" "c.4771C>T" "r.(?)" "p.(Arg1591Trp)" "" "0000650520" "00023880" "30" "2674" "13" "2674" "13" "c.2674+13C>T" "r.(=)" "p.(=)" "" "0000650520" "00001365" "30" "2977" "13" "2977" "13" "c.2977+13C>T" "r.(=)" "p.(=)" "" "0000653480" "00023880" "50" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Arg324Gly)" "" "0000654603" "00023880" "30" "4865" "0" "4865" "0" "c.4865C>T" "r.(?)" "p.(Ala1622Val)" "" "0000654603" "00001365" "30" "5168" "0" "5168" "0" "c.5168C>T" "r.(?)" "p.(Ala1723Val)" "" "0000654604" "00023880" "30" "4740" "0" "4740" "0" "c.4740G>A" "r.(?)" "p.(Gly1580=)" "" "0000654604" "00001365" "30" "5043" "0" "5043" "0" "c.5043G>A" "r.(?)" "p.(Gly1681=)" "" "0000654605" "00023880" "30" "4624" "0" "4624" "0" "c.4624G>A" "r.(?)" "p.(Asp1542Asn)" "" "0000654605" "00001365" "30" "4927" "0" "4927" "0" "c.4927G>A" "r.(?)" "p.(Asp1643Asn)" "" "0000654606" "00023880" "30" "4335" "0" "4335" "0" "c.4335C>T" "r.(?)" "p.(Asn1445=)" "" "0000654606" "00001365" "30" "4638" "0" "4638" "0" "c.4638C>T" "r.(?)" "p.(Asn1546=)" "" "0000654607" "00023880" "30" "3549" "0" "3549" "0" "c.3549T>C" "r.(?)" "p.(His1183=)" "" "0000654607" "00001365" "30" "3852" "0" "3852" "0" "c.3852T>C" "r.(?)" "p.(His1284=)" "" "0000654608" "00023880" "30" "883" "-5" "883" "-5" "c.883-5C>A" "r.spl?" "p.?" "" "0000654608" "00001365" "30" "883" "-5" "883" "-5" "c.883-5C>A" "r.spl?" "p.?" "" "0000669623" "00023880" "30" "6816" "0" "6816" "0" "c.*1743G>A" "r.(=)" "p.(=)" "" "0000669623" "00001365" "30" "7119" "0" "7119" "0" "c.*1743G>A" "r.(=)" "p.(=)" "" "0000669624" "00023880" "30" "2674" "13" "2674" "13" "c.2674+13C>T" "r.(=)" "p.(=)" "" "0000669624" "00001365" "30" "2977" "13" "2977" "13" "c.2977+13C>T" "r.(=)" "p.(=)" "" "0000673886" "00023880" "70" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Arg13Cys)" "2" "0000673887" "00023880" "70" "607" "0" "607" "0" "c.607A>G" "r.(?)" "p.(Arg203Gly)" "6" "0000673888" "00023880" "70" "798" "1" "798" "1" "c.798+1G>T" "r.spl" "p.?" "8" "0000673889" "00023880" "70" "917" "0" "917" "0" "c.917A>G" "r.(?)" "p.(Tyr306Cys)" "11" "0000676580" "00023880" "30" "4005" "0" "4005" "0" "c.4005G>A" "r.(?)" "p.(Ala1335=)" "" "0000676580" "00001365" "30" "4308" "0" "4308" "0" "c.4308G>A" "r.(?)" "p.(Ala1436=)" "" "0000676581" "00023880" "30" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000676581" "00001365" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Arg1296=)" "" "0000676582" "00023880" "50" "3054" "0" "3054" "0" "c.3054C>T" "r.(?)" "p.(Asp1018=)" "" "0000676582" "00001365" "50" "3357" "0" "3357" "0" "c.3357C>T" "r.(?)" "p.(Asp1119=)" "" "0000676583" "00023880" "30" "2798" "0" "2798" "0" "c.2798G>A" "r.(?)" "p.(Arg933His)" "" "0000676583" "00001365" "30" "3101" "0" "3101" "0" "c.3101G>A" "r.(?)" "p.(Arg1034His)" "" "0000676584" "00023880" "30" "2655" "0" "2655" "0" "c.2655G>C" "r.(?)" "p.(Val885=)" "" "0000676584" "00001365" "30" "2958" "0" "2958" "0" "c.2958G>C" "r.(?)" "p.(Val986=)" "" "0000676585" "00023880" "30" "1653" "0" "1653" "0" "c.1653C>T" "r.(?)" "p.(Ser551=)" "" "0000676585" "00001365" "30" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Ser560=)" "" "0000676586" "00023880" "30" "608" "13" "608" "13" "c.608+13A>T" "r.(=)" "p.(=)" "" "0000676586" "00001365" "30" "608" "13" "608" "13" "c.608+13A>T" "r.(=)" "p.(=)" "" "0000676587" "00023880" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Ser141=)" "" "0000676587" "00001365" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Ser141=)" "" "0000688715" "00023880" "30" "2769" "0" "2769" "0" "c.2769C>G" "r.(?)" "p.(Ser923=)" "" "0000688715" "00001365" "30" "3072" "0" "3072" "0" "c.3072C>G" "r.(?)" "p.(Ser1024=)" "" "0000688716" "00023880" "50" "2699" "0" "2699" "0" "c.2699G>T" "r.(?)" "p.(Gly900Val)" "" "0000688716" "00001365" "50" "3002" "0" "3002" "0" "c.3002G>T" "r.(?)" "p.(Gly1001Val)" "" "0000688717" "00023880" "30" "882" "8" "882" "8" "c.882+8G>A" "r.(=)" "p.(=)" "" "0000688717" "00001365" "30" "882" "8" "882" "8" "c.882+8G>A" "r.(=)" "p.(=)" "" "0000718671" "00023880" "30" "4572" "0" "4572" "0" "c.4572G>A" "r.(?)" "p.(Pro1524=)" "" "0000718671" "00001365" "30" "4875" "0" "4875" "0" "c.4875G>A" "r.(?)" "p.(Pro1625=)" "" "0000718672" "00023880" "30" "4363" "-20" "4363" "-20" "c.4363-20C>T" "r.(=)" "p.(=)" "" "0000718672" "00001365" "30" "4666" "-20" "4666" "-20" "c.4666-20C>T" "r.(=)" "p.(=)" "" "0000718673" "00023880" "50" "3568" "0" "3568" "0" "c.3568C>T" "r.(?)" "p.(Arg1190Cys)" "" "0000718673" "00001365" "50" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Arg1291Cys)" "" "0000718674" "00023880" "30" "3378" "0" "3378" "0" "c.3378G>A" "r.(?)" "p.(Pro1126=)" "" "0000718674" "00001365" "30" "3681" "0" "3681" "0" "c.3681G>A" "r.(?)" "p.(Pro1227=)" "" "0000718675" "00023880" "10" "2595" "0" "2595" "0" "c.2595C>G" "r.(?)" "p.(Pro865=)" "" "0000718675" "00001365" "10" "2898" "0" "2898" "0" "c.2898C>G" "r.(?)" "p.(Pro966=)" "" "0000718676" "00023880" "30" "2555" "756" "2555" "756" "c.2555+756C>T" "r.(=)" "p.(=)" "" "0000718676" "00001365" "30" "2583" "-10" "2583" "-10" "c.2583-10C>T" "r.(=)" "p.(=)" "" "0000718677" "00023880" "50" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Val542Ile)" "" "0000718677" "00001365" "50" "1651" "0" "1651" "0" "c.1651G>A" "r.(?)" "p.(Val551Ile)" "" "0000718678" "00023880" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ser309=)" "" "0000718678" "00001365" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ser309=)" "" "0000718679" "00023880" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "" "0000718679" "00001365" "50" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Ile223Thr)" "" "0000718680" "00023880" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "" "0000718680" "00001365" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "" "0000786901" "00001365" "90" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Thr99Met)" "3" "0000787320" "00001365" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "35i" "0000787321" "00001365" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "36" "0000787430" "00001365" "50" "4565" "1" "14711" "0" "c.(1470+1_14711)_(4565+1_4566-1)dup" "r.?" "p.?" "15i_42i" "0000791007" "00023880" "70" "935" "0" "935" "0" "c.935C>A" "r.(?)" "p.(Thr312Asn)" "" "0000791007" "00001365" "70" "935" "0" "935" "0" "c.935C>A" "r.(?)" "p.(Thr312Asn)" "" "0000800521" "00023880" "30" "4911" "14" "4911" "14" "c.4911+14C>T" "r.(=)" "p.(=)" "" "0000800521" "00001365" "30" "5214" "14" "5214" "14" "c.5214+14C>T" "r.(=)" "p.(=)" "" "0000800522" "00023880" "30" "2899" "3" "2899" "3" "c.2899+3G>A" "r.spl?" "p.?" "" "0000800522" "00001365" "30" "3202" "3" "3202" "3" "c.3202+3G>A" "r.spl?" "p.?" "" "0000800523" "00023880" "50" "2543" "0" "2543" "0" "c.2543G>A" "r.(?)" "p.(Arg848Gln)" "" "0000800523" "00001365" "50" "2570" "0" "2570" "0" "c.2570G>A" "r.(?)" "p.(Arg857Gln)" "" "0000800524" "00023880" "30" "2466" "0" "2466" "0" "c.2466G>T" "r.(?)" "p.(Val822=)" "" "0000800524" "00001365" "30" "2493" "0" "2493" "0" "c.2493G>T" "r.(?)" "p.(Val831=)" "" "0000800525" "00023880" "50" "2051" "0" "2051" "0" "c.2051C>T" "r.(?)" "p.(Pro684Leu)" "" "0000800525" "00001365" "50" "2078" "0" "2078" "0" "c.2078C>T" "r.(?)" "p.(Pro693Leu)" "" "0000800526" "00023880" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ser547=)" "" "0000800526" "00001365" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Ser556=)" "" "0000800527" "00023880" "30" "1181" "-43" "1181" "-43" "c.1181-43C>T" "r.(=)" "p.(=)" "" "0000800527" "00001365" "30" "1208" "-43" "1208" "-43" "c.1208-43C>T" "r.(=)" "p.(=)" "" "0000800528" "00023880" "50" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ser309Phe)" "" "0000800528" "00001365" "50" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ser309Phe)" "" "0000800529" "00023880" "30" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Ala232Thr)" "" "0000800529" "00001365" "30" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Ala232Thr)" "" "0000800530" "00023880" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Asp136Asn)" "" "0000800530" "00001365" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Asp136Asn)" "" "0000800531" "00023880" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000800531" "00001365" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000832507" "00001365" "90" "5332" "0" "5332" "0" "c.5332C>T" "r.(?)" "p.(Arg1778Trp)" "" "0000837049" "00001365" "70" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "" "0000849816" "00023880" "30" "4623" "0" "4623" "0" "c.4623C>T" "r.(?)" "p.(Ala1541=)" "" "0000849816" "00001365" "30" "4926" "0" "4926" "0" "c.4926C>T" "r.(?)" "p.(Ala1642=)" "" "0000849817" "00023880" "10" "3162" "4" "3162" "4" "c.3162+4C>T" "r.spl?" "p.?" "" "0000849817" "00001365" "10" "3465" "4" "3465" "4" "c.3465+4C>T" "r.spl?" "p.?" "" "0000849818" "00023880" "50" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Ala385Thr)" "" "0000849818" "00001365" "50" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Ala385Thr)" "" "0000849819" "00023880" "30" "882" "6" "882" "6" "c.882+6C>G" "r.(=)" "p.(=)" "" "0000849819" "00001365" "30" "882" "6" "882" "6" "c.882+6C>G" "r.(=)" "p.(=)" "" "0000849820" "00023880" "50" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "" "0000849820" "00001365" "50" "761" "0" "761" "0" "c.761G>A" "r.(?)" "p.(Arg254Gln)" "" "0000858453" "00023880" "30" "608" "18" "608" "18" "c.608+18C>T" "r.(=)" "p.(=)" "" "0000858453" "00001365" "30" "608" "18" "608" "18" "c.608+18C>T" "r.(=)" "p.(=)" "" "0000885059" "00023880" "50" "4852" "0" "4852" "0" "c.4852G>A" "r.(?)" "p.(Val1618Met)" "" "0000885059" "00001365" "50" "5155" "0" "5155" "0" "c.5155G>A" "r.(?)" "p.(Val1719Met)" "" "0000885060" "00023880" "50" "4208" "0" "4208" "0" "c.4208C>T" "r.(?)" "p.(Thr1403Ile)" "" "0000885060" "00001365" "50" "4511" "0" "4511" "0" "c.4511C>T" "r.(?)" "p.(Thr1504Ile)" "" "0000885061" "00023880" "30" "3549" "0" "3549" "0" "c.3549T>C" "r.(?)" "p.(His1183=)" "" "0000885061" "00001365" "30" "3852" "0" "3852" "0" "c.3852T>C" "r.(?)" "p.(His1284=)" "" "0000885062" "00023880" "30" "3281" "16" "3281" "16" "c.3281+16C>T" "r.(=)" "p.(=)" "" "0000885062" "00001365" "30" "3584" "16" "3584" "16" "c.3584+16C>T" "r.(=)" "p.(=)" "" "0000885063" "00023880" "30" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Ala1009=)" "" "0000885063" "00001365" "30" "3330" "0" "3330" "0" "c.3330G>A" "r.(?)" "p.(Ala1110=)" "" "0000885064" "00023880" "50" "2968" "0" "2968" "0" "c.2968G>C" "r.(?)" "p.(Ala990Pro)" "" "0000885064" "00001365" "50" "3271" "0" "3271" "0" "c.3271G>C" "r.(?)" "p.(Ala1091Pro)" "" "0000885065" "00023880" "30" "2943" "0" "2943" "0" "c.2943C>T" "r.(?)" "p.(Ala981=)" "" "0000885065" "00001365" "30" "3246" "0" "3246" "0" "c.3246C>T" "r.(?)" "p.(Ala1082=)" "" "0000885066" "00023880" "50" "2555" "887" "2555" "887" "c.2555+887G>A" "r.(=)" "p.(=)" "" "0000885066" "00001365" "50" "2704" "0" "2704" "0" "c.2704G>A" "r.(?)" "p.(Glu902Lys)" "" "0000885067" "00023880" "30" "2555" "862" "2555" "862" "c.2555+862C>T" "r.(=)" "p.(=)" "" "0000885067" "00001365" "30" "2679" "0" "2679" "0" "c.2679C>T" "r.(?)" "p.(Pro893=)" "" "0000885068" "00023880" "30" "2160" "0" "2160" "0" "c.2160G>A" "r.(?)" "p.(Thr720=)" "" "0000885068" "00001365" "30" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Thr729=)" "" "0000885069" "00023880" "30" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(Ser547=)" "" "0000885069" "00001365" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Ser556=)" "" "0000885070" "00023880" "70" "1180" "2" "1180" "2" "c.1180+2T>G" "r.spl?" "p.?" "" "0000885070" "00001365" "70" "1180" "2" "1180" "2" "c.1180+2T>G" "r.spl?" "p.?" "" "0000885071" "00023880" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Lys280Glu)" "" "0000885071" "00001365" "50" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Lys280Glu)" "" "0000885072" "00023880" "50" "430" "-1" "430" "-1" "c.430-1G>A" "r.spl?" "p.?" "" "0000885072" "00001365" "50" "430" "-1" "430" "-1" "c.430-1G>A" "r.spl?" "p.?" "" "0000911648" "00023880" "50" "5031" "-2" "5031" "-2" "c.5031-2A>G" "r.spl?" "p.?" "" "0000911648" "00001365" "50" "5334" "-2" "5334" "-2" "c.5334-2A>G" "r.spl?" "p.?" "" "0000911649" "00023880" "30" "4431" "0" "4431" "0" "c.4431C>T" "r.(?)" "p.(Ser1477=)" "" "0000911649" "00001365" "30" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Ser1578=)" "" "0000911650" "00023880" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(?)" "p.(Ala1243=)" "" "0000911650" "00001365" "30" "4032" "0" "4032" "0" "c.4032G>A" "r.(?)" "p.(Ala1344=)" "" "0000911651" "00023880" "50" "3025" "0" "3025" "0" "c.3025G>A" "r.(?)" "p.(Ala1009Thr)" "" "0000911651" "00001365" "50" "3328" "0" "3328" "0" "c.3328G>A" "r.(?)" "p.(Ala1110Thr)" "" "0000911652" "00023880" "30" "2676" "0" "2676" "0" "c.2676C>T" "r.(?)" "p.(Ala892=)" "" "0000911652" "00001365" "30" "2979" "0" "2979" "0" "c.2979C>T" "r.(?)" "p.(Ala993=)" "" "0000911653" "00023880" "10" "1181" "-73" "1181" "-73" "c.1181-73G>A" "r.(=)" "p.(=)" "" "0000911653" "00001365" "10" "1208" "-73" "1208" "-73" "c.1208-73G>A" "r.(=)" "p.(=)" "" "0000911654" "00023880" "50" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Ser215Gly)" "" "0000911654" "00001365" "50" "643" "0" "643" "0" "c.643A>G" "r.(?)" "p.(Ser215Gly)" "" "0000911655" "00023880" "50" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Ser55Tyr)" "" "0000911655" "00001365" "50" "164" "0" "164" "0" "c.164C>A" "r.(?)" "p.(Ser55Tyr)" "" "0000919327" "00001365" "90" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "0000922701" "00001365" "70" "4869" "-66" "4869" "-66" "c.4869-66C>T" "r.spl?" "p.?" "" "0000923665" "00023880" "50" "3705" "-3" "3705" "-3" "c.3705-3C>A" "r.spl?" "p.?" "" "0000923665" "00001365" "50" "4008" "-3" "4008" "-3" "c.4008-3C>A" "r.spl?" "p.?" "" "0000923666" "00023880" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Leu)" "" "0000923666" "00001365" "90" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Leu)" "" "0000927677" "00001365" "90" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0000928568" "00023880" "30" "1742" "-12" "1742" "-12" "c.1742-12T>C" "r.(=)" "p.(=)" "" "0000928568" "00001365" "30" "1769" "-12" "1769" "-12" "c.1769-12T>C" "r.(=)" "p.(=)" "" "0000928569" "00023880" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Glu317Lys)" "" "0000928569" "00001365" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Glu317Lys)" "" "0000947806" "00023880" "50" "4654" "0" "4654" "0" "c.4654G>A" "r.(?)" "p.(Ala1552Thr)" "" "0000947806" "00001365" "50" "4957" "0" "4957" "0" "c.4957G>A" "r.(?)" "p.(Ala1653Thr)" "" "0000947807" "00023880" "30" "3598" "372" "3598" "372" "c.3598+372C>T" "r.(=)" "p.(=)" "" "0000947807" "00001365" "30" "3901" "372" "3901" "372" "c.3901+372C>T" "r.(=)" "p.(=)" "" "0000947808" "00023880" "50" "3298" "0" "3298" "0" "c.3298C>T" "r.(?)" "p.(Arg1100Cys)" "" "0000947808" "00001365" "50" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Arg1201Cys)" "" "0000962008" "00023880" "50" "3905" "0" "3905" "0" "c.3905G>A" "r.(?)" "p.(Arg1302His)" "" "0000962008" "00001365" "50" "4208" "0" "4208" "0" "c.4208G>A" "r.(?)" "p.(Arg1403His)" "" "0000962018" "00023880" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Gly389=)" "" "0000962018" "00001365" "30" "1167" "0" "1167" "0" "c.1167C>T" "r.(?)" "p.(Gly389=)" "" "0000962019" "00023880" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "" "0000962019" "00001365" "90" "946" "0" "946" "0" "c.946C>T" "r.(?)" "p.(Arg316Trp)" "" "0000962020" "00023880" "30" "883" "-3" "883" "-3" "c.883-3C>T" "r.spl?" "p.?" "" "0000962020" "00001365" "30" "883" "-3" "883" "-3" "c.883-3C>T" "r.spl?" "p.?" "" "0000972000" "00023880" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Ala250Val)" "" "0000972000" "00001365" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Ala250Val)" "" "0000975132" "00023880" "50" "4802" "0" "4802" "0" "c.4802G>A" "r.(?)" "p.(Arg1601His)" "" "0000975132" "00001365" "50" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702His)" "" "0000975133" "00023880" "30" "4718" "10" "4718" "10" "c.4718+10G>A" "r.(=)" "p.(=)" "" "0000975133" "00001365" "30" "5021" "10" "5021" "10" "c.5021+10G>A" "r.(=)" "p.(=)" "" "0000975134" "00023880" "50" "4606" "0" "4606" "0" "c.4606G>C" "r.(?)" "p.(Glu1536Gln)" "" "0000975134" "00001365" "50" "4909" "0" "4909" "0" "c.4909G>C" "r.(?)" "p.(Glu1637Gln)" "" "0000975135" "00023880" "30" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000975135" "00001365" "30" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Arg1296=)" "" "0000975136" "00023880" "30" "3460" "0" "3460" "0" "c.3460G>A" "r.(?)" "p.(Val1154Met)" "" "0000975136" "00001365" "30" "3763" "0" "3763" "0" "c.3763G>A" "r.(?)" "p.(Val1255Met)" "" "0000975137" "00023880" "50" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884His)" "" "0000975137" "00001365" "50" "2954" "0" "2954" "0" "c.2954G>A" "r.(?)" "p.(Arg985His)" "" "0000975138" "00023880" "50" "2556" "-262" "2556" "-262" "c.2556-262C>G" "r.(=)" "p.(=)" "" "0000975138" "00001365" "50" "2859" "-262" "2859" "-262" "c.2859-262C>G" "r.(=)" "p.(=)" "" "0000975139" "00023880" "10" "2448" "0" "2448" "0" "c.2448C>T" "r.(?)" "p.(Tyr816=)" "" "0000975139" "00001365" "10" "2475" "0" "2475" "0" "c.2475C>T" "r.(?)" "p.(Tyr825=)" "" "0000975140" "00023880" "30" "1923" "-3" "1923" "-3" "c.1923-3C>T" "r.spl?" "p.?" "" "0000975140" "00001365" "30" "1950" "-3" "1950" "-3" "c.1950-3C>T" "r.spl?" "p.?" "" "0000975141" "00023880" "50" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Gly562Arg)" "" "0000975141" "00001365" "50" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Arg)" "" "0000975142" "00023880" "30" "1181" "-40" "1181" "-40" "c.1181-40G>A" "r.(=)" "p.(=)" "" "0000975142" "00001365" "30" "1208" "-40" "1208" "-40" "c.1208-40G>A" "r.(=)" "p.(=)" "" "0000975143" "00023880" "50" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0000975143" "00001365" "50" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "" "0000975144" "00023880" "30" "1037" "184" "1037" "184" "c.1037+184T>G" "r.(=)" "p.(=)" "" "0000975144" "00001365" "30" "1037" "184" "1037" "184" "c.1037+184T>G" "r.(=)" "p.(=)" "" "0000975145" "00023880" "50" "721" "-304" "721" "-304" "c.721-304G>A" "r.(=)" "p.(=)" "" "0000975145" "00001365" "50" "721" "-304" "721" "-304" "c.721-304G>A" "r.(=)" "p.(=)" "" "0000975146" "00023880" "50" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Ile224Val)" "" "0000975146" "00001365" "50" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Ile224Val)" "" "0000975147" "00023880" "50" "-15172" "0" "-15172" "0" "c.-15172T>A" "r.(?)" "p.(=)" "" "0000975147" "00001365" "50" "-61" "7198" "-61" "7198" "c.-61+7198T>A" "r.(=)" "p.(=)" "" "0000975148" "00023880" "30" "-20020" "0" "-20020" "0" "c.-20020G>A" "r.(?)" "p.(=)" "" "0000975148" "00001365" "30" "-61" "2350" "-61" "2350" "c.-61+2350G>A" "r.(=)" "p.(=)" "" "0000992724" "00023880" "50" "4999" "0" "4999" "0" "c.4999G>A" "r.(?)" "p.(Ala1667Thr)" "" "0000992724" "00001365" "50" "5302" "0" "5302" "0" "c.5302G>A" "r.(?)" "p.(Ala1768Thr)" "" "0000992725" "00023880" "50" "4802" "0" "4802" "0" "c.4802G>A" "r.(?)" "p.(Arg1601His)" "" "0000992725" "00001365" "50" "5105" "0" "5105" "0" "c.5105G>A" "r.(?)" "p.(Arg1702His)" "" "0000992726" "00023880" "30" "4668" "0" "4668" "0" "c.4668C>A" "r.(?)" "p.(Asp1556Glu)" "" "0000992726" "00001365" "30" "4971" "0" "4971" "0" "c.4971C>A" "r.(?)" "p.(Asp1657Glu)" "" "0000992727" "00023880" "30" "4586" "0" "4586" "0" "c.4586G>A" "r.(?)" "p.(Arg1529Gln)" "" "0000992727" "00001365" "30" "4889" "0" "4889" "0" "c.4889G>A" "r.(?)" "p.(Arg1630Gln)" "" "0000992728" "00023880" "30" "4334" "0" "4334" "0" "c.4334A>C" "r.(?)" "p.(Asn1445Thr)" "" "0000992728" "00001365" "30" "4637" "0" "4637" "0" "c.4637A>C" "r.(?)" "p.(Asn1546Thr)" "" "0000992729" "00023880" "50" "4195" "0" "4195" "0" "c.4195G>C" "r.(?)" "p.(Glu1399Gln)" "" "0000992729" "00001365" "50" "4498" "0" "4498" "0" "c.4498G>C" "r.(?)" "p.(Glu1500Gln)" "" "0000992730" "00023880" "30" "3946" "0" "3946" "0" "c.3946T>A" "r.(?)" "p.(Ser1316Thr)" "" "0000992730" "00001365" "30" "4249" "0" "4249" "0" "c.4249T>A" "r.(?)" "p.(Ser1417Thr)" "" "0000992731" "00023880" "10" "3585" "0" "3585" "0" "c.3585C>T" "r.(?)" "p.(Arg1195=)" "" "0000992731" "00001365" "10" "3888" "0" "3888" "0" "c.3888C>T" "r.(?)" "p.(Arg1296=)" "" "0000992732" "00023880" "50" "3446" "5" "3446" "5" "c.3446+5G>T" "r.spl?" "p.?" "" "0000992732" "00001365" "50" "3749" "5" "3749" "5" "c.3749+5G>T" "r.spl?" "p.?" "" "0000992733" "00023880" "30" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Asp1030Asn)" "" "0000992733" "00001365" "30" "3391" "0" "3391" "0" "c.3391G>A" "r.(?)" "p.(Asp1131Asn)" "" "0000992734" "00023880" "30" "2791" "0" "2791" "0" "c.2791A>T" "r.(?)" "p.(Met931Leu)" "" "0000992734" "00001365" "30" "3094" "0" "3094" "0" "c.3094A>T" "r.(?)" "p.(Met1032Leu)" "" "0000992735" "00023880" "30" "2555" "1032" "2555" "1032" "c.2555+1032T>C" "r.(=)" "p.(=)" "" "0000992735" "00001365" "30" "2849" "0" "2849" "0" "c.2849T>C" "r.(?)" "p.(Leu950Ser)" "" "0000992736" "00023880" "30" "2555" "1016" "2555" "1016" "c.2555+1016C>G" "r.(=)" "p.(=)" "" "0000992736" "00001365" "30" "2833" "0" "2833" "0" "c.2833C>G" "r.(?)" "p.(Pro945Ala)" "" "0000992737" "00023880" "50" "2555" "925" "2555" "936" "c.2555+925_2555+936del" "r.(=)" "p.(=)" "" "0000992737" "00001365" "50" "2742" "0" "2753" "0" "c.2742_2753del" "r.(?)" "p.(Glu914_Glu917del)" "" "0000992738" "00023880" "30" "2089" "6" "2089" "6" "c.2089+6G>A" "r.(=)" "p.(=)" "" "0000992738" "00001365" "30" "2116" "6" "2116" "6" "c.2116+6G>A" "r.(=)" "p.(=)" "" "0000992739" "00023880" "50" "1792" "0" "1792" "0" "c.1792G>T" "r.(?)" "p.(Glu598*)" "" "0000992739" "00001365" "50" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Glu607*)" "" "0000992740" "00023880" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Val567Ile)" "" "0000992740" "00001365" "50" "1726" "0" "1726" "0" "c.1726G>A" "r.(?)" "p.(Val576Ile)" "" "0000992741" "00023880" "30" "1256" "0" "1256" "0" "c.1256G>C" "r.(?)" "p.(Ser419Thr)" "" "0000992741" "00001365" "30" "1283" "0" "1283" "0" "c.1283G>C" "r.(?)" "p.(Ser428Thr)" "" "0000992742" "00023880" "30" "1181" "-32" "1181" "-32" "c.1181-32G>A" "r.(=)" "p.(=)" "" "0000992742" "00001365" "30" "1208" "-32" "1208" "-32" "c.1208-32G>A" "r.(=)" "p.(=)" "" "0000992743" "00023880" "50" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Arg380Gln)" "" "0000992743" "00001365" "50" "1139" "0" "1139" "0" "c.1139G>A" "r.(?)" "p.(Arg380Gln)" "" "0000992744" "00023880" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" "" "0000992744" "00001365" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" "" "0000992745" "00023880" "50" "131" "0" "131" "0" "c.131A>G" "r.(?)" "p.(Lys44Arg)" "" "0000992745" "00001365" "50" "131" "0" "131" "0" "c.131A>G" "r.(?)" "p.(Lys44Arg)" "" "0001007487" "00001365" "70" "4256" "0" "4256" "0" "c.4256G>T" "r.spl" "p.?" "" "0001007537" "00001365" "70" "718" "0" "720" "0" "c.718_720del" "r.(?)" "p.(Lys240del)" "" "0001007565" "00001365" "70" "1862" "0" "1862" "0" "c.1862C>T" "r.(?)" "p.(Thr621Met)" "" "0001013699" "00023880" "50" "4027" "0" "4027" "0" "c.4027C>T" "r.(?)" "p.(Arg1343Trp)" "" "0001013699" "00001365" "50" "4330" "0" "4330" "0" "c.4330C>T" "r.(?)" "p.(Arg1444Trp)" "" "0001013700" "00023880" "50" "1684" "0" "1684" "0" "c.1684G>C" "r.(?)" "p.(Gly562Arg)" "" "0001013700" "00001365" "50" "1711" "0" "1711" "0" "c.1711G>C" "r.(?)" "p.(Gly571Arg)" "" "0001013701" "00023880" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(=)" "" "0001013701" "00001365" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(=)" "" "0001013702" "00023880" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0001013702" "00001365" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Ser283=)" "" "0001024560" "00023880" "10" "363" "16" "363" "16" "c.363+16C>T" "r.(=)" "p.(=)" "" "0001024560" "00001365" "10" "363" "16" "363" "16" "c.363+16C>T" "r.(=)" "p.(=)" "" "0001033176" "00023880" "30" "4718" "6" "4718" "6" "c.4718+6T>C" "r.(=)" "p.(=)" "" "0001033176" "00001365" "30" "5021" "6" "5021" "6" "c.5021+6T>C" "r.(=)" "p.(=)" "" "0001033177" "00023880" "50" "4478" "0" "4478" "0" "c.4478C>T" "r.(?)" "p.(Ser1493Leu)" "" "0001033177" "00001365" "50" "4781" "0" "4781" "0" "c.4781C>T" "r.(?)" "p.(Ser1594Leu)" "" "0001033178" "00023880" "50" "3608" "0" "3608" "0" "c.3608G>A" "r.(?)" "p.(Arg1203Gln)" "" "0001033178" "00001365" "50" "3911" "0" "3911" "0" "c.3911G>A" "r.(?)" "p.(Arg1304Gln)" "" "0001033179" "00023880" "50" "3497" "0" "3497" "0" "c.3497C>A" "r.(?)" "p.(Thr1166Asn)" "" "0001033179" "00001365" "50" "3800" "0" "3800" "0" "c.3800C>A" "r.(?)" "p.(Thr1267Asn)" "" "0001033180" "00023880" "50" "3191" "0" "3191" "0" "c.3191T>C" "r.(?)" "p.(Ile1064Thr)" "" "0001033180" "00001365" "50" "3494" "0" "3494" "0" "c.3494T>C" "r.(?)" "p.(Ile1165Thr)" "" "0001033181" "00023880" "50" "2968" "0" "2968" "0" "c.2968G>C" "r.(?)" "p.(Ala990Pro)" "" "0001033181" "00001365" "50" "3271" "0" "3271" "0" "c.3271G>C" "r.(?)" "p.(Ala1091Pro)" "" "0001033182" "00023880" "30" "2858" "0" "2858" "0" "c.2858T>G" "r.(?)" "p.(Val953Gly)" "" "0001033182" "00001365" "30" "3161" "0" "3161" "0" "c.3161T>G" "r.(?)" "p.(Val1054Gly)" "" "0001033183" "00023880" "30" "1658" "-276" "1658" "-276" "c.1658-276G>A" "r.(=)" "p.(=)" "" "0001033183" "00001365" "30" "1685" "-276" "1685" "-276" "c.1685-276G>A" "r.(=)" "p.(=)" "" "0001033184" "00023880" "30" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(=)" "" "0001033184" "00001365" "30" "1290" "0" "1290" "0" "c.1290C>T" "r.(?)" "p.(=)" "" "0001033185" "00023880" "30" "1181" "-23" "1181" "-23" "c.1181-23A>C" "r.(=)" "p.(=)" "" "0001033185" "00001365" "30" "1208" "-23" "1208" "-23" "c.1208-23A>C" "r.(=)" "p.(=)" "" "0001033186" "00023880" "50" "871" "0" "871" "0" "c.871G>C" "r.(?)" "p.(Gly291Arg)" "" "0001033186" "00001365" "50" "871" "0" "871" "0" "c.871G>C" "r.(?)" "p.(Gly291Arg)" "" "0001033187" "00023880" "30" "798" "131" "798" "131" "c.798+131G>T" "r.(=)" "p.(=)" "" "0001033187" "00001365" "30" "798" "131" "798" "131" "c.798+131G>T" "r.(=)" "p.(=)" "" "0001033188" "00023880" "30" "-15211" "0" "-15211" "0" "c.-15211T>C" "r.(?)" "p.(=)" "" "0001033188" "00001365" "30" "-61" "7159" "-61" "7159" "c.-61+7159T>C" "r.(=)" "p.(=)" "" "0001045822" "00023880" "30" "3513" "9" "3513" "9" "c.3513+9C>T" "r.(=)" "p.(=)" "" "0001045822" "00001365" "30" "3816" "9" "3816" "9" "c.3816+9C>T" "r.(=)" "p.(=)" "" "0001045823" "00023880" "30" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(Asp546Asn)" "" "0001045823" "00001365" "30" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Asp555Asn)" "" "0001045824" "00023880" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Ser252Asn)" "" "0001045824" "00001365" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Ser252Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 200 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011769" "0000024261" "0000046854" "0000024267" "0000046890" "0000024267" "0000046891" "0000024267" "0000046892" "0000024267" "0000046893" "0000024267" "0000046894" "0000024267" "0000046895" "0000024267" "0000046896" "0000024267" "0000046897" "0000024267" "0000046898" "0000024267" "0000046899" "0000024267" "0000046900" "0000024267" "0000046901" "0000024267" "0000046902" "0000024267" "0000046903" "0000024267" "0000046904" "0000024267" "0000046905" "0000024267" "0000046906" "0000024267" "0000046907" "0000024267" "0000046908" "0000024267" "0000046909" "0000024267" "0000046910" "0000024267" "0000046911" "0000024267" "0000046912" "0000024267" "0000046913" "0000024267" "0000046914" "0000024267" "0000046915" "0000024267" "0000046916" "0000024267" "0000046917" "0000024267" "0000046918" "0000024267" "0000046919" "0000024267" "0000046920" 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"0000336338" "0000164778" "0000368380" "0000209931" "0000440889" "0000211060" "0000442478" "0000211243" "0000442705" "0000226665" "0000459005" "0000226666" "0000459007" "0000226668" "0000459009" "0000226669" "0000459010" "0000226670" "0000459011" "0000226671" "0000459012" "0000226672" "0000459013" "0000226673" "0000459014" "0000226689" "0000459030" "0000226690" "0000459031" "0000226691" "0000459032" "0000226692" "0000459033" "0000226693" "0000459034" "0000226694" "0000459035" "0000226695" "0000459036" "0000226696" "0000459037" "0000226697" "0000459038" "0000226698" "0000459039" "0000246318" "0000498905" "0000246956" "0000499790" "0000247801" "0000500686" "0000247802" "0000500687" "0000247803" "0000500688" "0000247804" "0000500689" "0000277175" "0000631919" "0000293829" "0000650518" "0000293830" "0000650519" "0000293831" "0000650520" "0000296769" "0000653480" "0000305935" "0000669623" "0000305936" "0000669624" "0000307284" "0000673886" "0000307285" "0000673887" "0000307286" "0000673888" "0000307287" "0000673889" "0000375550" "0000786901" "0000375969" "0000787320" "0000375970" "0000787321" "0000376079" "0000787430" "0000378294" "0000791007" "0000399860" "0000832507" "0000402812" "0000837049" "0000436339" "0000922701" "0000450073" "0000972000" "0000455353" "0001007537" "0000455380" "0001007487" "0000455420" "0001007565"