### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIF5A)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"KIF5A"	"kinesin family member 5A"	"12"	"q13.13"	"unknown"	"NG_008155.1"	"UD_132118662627"	""	"http://www.LOVD.nl/KIF5A"	""	"1"	"6323"	"3798"	"602821"	"1"	"1"	"0"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/KIF5A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-06-15 10:54:54"	"00006"	"2026-04-13 18:23:33"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00010584"	"KIF5A"	"kinesin family member 5A"	"001"	"NM_004984.2"	""	"NP_004975.2"	""	""	""	"-208"	"3689"	"3099"	"57943847"	"57978554"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00213"	"SPG10"	"paraplegia, spastic, autosomal dominant, type 10 (SPG-10)"	"AD"	"604187"	""	""	""	"00008"	"2013-10-02 11:35:03"	"00006"	"2021-12-10 21:51:32"
"00325"	"SPG"	"paraplegia, spastic (SPG)"	""	""	""	""	""	"00006"	"2014-02-15 22:29:17"	"00006"	"2016-11-28 13:01:43"
"04255"	"ALS"	"sclerosis, lateral, amyotrophic (ALS)"	""	""	""	""	""	"00015"	"2015-05-08 11:45:27"	"00006"	"2015-12-08 23:53:05"
"05113"	"CMT"	"Charcot-Marie-Tooth disease (CMT)"	""	""	""	""	""	"00006"	"2016-01-11 01:40:57"	""	""
"05123"	"SMA"	"atrophy, muscular, spinal (SMA)"	""	""	""	""	""	"00006"	"2016-01-24 01:41:54"	""	""
"05356"	"ataxia"	"ataxia"	""	""	""	""	""	"00006"	"2017-12-21 19:14:03"	""	""
"05556"	"NEIMY"	"myoclonus, intractable, neonatal  (NEIMY)"	"AD"	"617235"	""	"autosomal dominant"	""	"00006"	"2019-02-04 17:02:51"	"00006"	"2021-12-10 21:51:32"
"05557"	"ALS25"	"sclerosis, lateral, amyotrophic, type 25 (ALS25)"	"AD"	"617921"	""	"autosomal dominant"	""	"00006"	"2019-02-04 17:04:42"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"KIF5A"	"00213"
"KIF5A"	"05556"
"KIF5A"	"05557"


## Individuals ## Do not remove or alter this header ##
## Count = 36
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00003009"	""	""	""	"1"	""	"00130"	"{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}"	""	"M"	""	""	""	"0"	""	""	""	"Pat1mov;Pat12"
"00003010"	""	""	""	"1"	""	"00130"	"{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}"	""	"F"	""	""	""	"0"	""	""	""	"Pat2mov;Pat14"
"00003011"	""	""	""	"1"	""	"00130"	"{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}"	""	"F"	""	""	""	"0"	""	""	""	"Pat3mov;Pat13"
"00039353"	""	""	""	"1"	""	"01330"	""	""	""	""	"Greece"	""	"0"	""	""	""	""
"00039354"	""	""	""	"1"	""	"01330"	""	""	""	""	"Greece"	""	"0"	""	""	""	""
"00132963"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00154962"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00218999"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"M"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat9"
"00227944"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00230655"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00245883"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00263901"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00275591"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00290769"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290770"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290771"	""	""	""	"15"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00324664"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"Germany"	""	"0"	""	""	""	"173622"
"00327003"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00332421"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	""	""	""	""	""
"00398668"	""	""	""	"1"	""	"04188"	"{PMID:Ferese 2021:34354735}"	"2-generation family, 2 affected siblings, affected mother"	"M"	""	"Italy"	">60y"	""	""	""	""	"1141"
"00410545"	""	""	""	"1"	""	"00006"	"{PMID:Schuermans 2022:35606766}"	"analysis 329 adult patients suffering from undiagnosed rare disease"	"M"	""	"Belgium"	""	"0"	""	""	""	"Pat7"
"00432374"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	""	""	""	""	""
"00444162"	""	""	""	"1"	""	"01709"	""	""	"M"	"?"	"Brazil"	""	"0"	""	""	""	""
"00444163"	""	""	""	"1"	""	"01709"	""	""	"M"	"?"	"Brazil"	""	"0"	""	""	""	""
"00469038"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00472903"	""	""	""	"1"	""	"04614"	""	""	"M"	"?"	"Spain"	""	""	""	""	""	""
"00472972"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"Fam9615172Pat69"
"00473168"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, family history"	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Fam104733Pat320"
"00473236"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, family history"	"M"	"no"	"Iran"	""	"0"	""	""	""	"Fam111707Pat435"
"00473293"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, family history"	"M"	"yes"	"Iran"	""	"0"	""	""	""	"Fam202331Pat530"
"00473402"	""	""	""	"1"	""	"00006"	"{PMID:Molaei 2025:41315541}"	"analysis 2009 neuromuscular disorder individuals; patient, no family history"	"F"	"no"	"Iran"	""	"0"	""	""	""	"Fam208518Pat691"
"00476146"	""	""	""	"1"	""	"00006"	"{PMID:Beecroft 2020:32153140}"	"analysis 2249 neurology patients"	"M"	""	"(Australia);(New Zealand)"	""	"0"	""	""	""	"DH152"
"00476147"	""	""	""	"1"	""	"00006"	"{PMID:Beecroft 2020:32153140}"	"analysis 2249 neurology patients"	"M"	""	"(Australia);(New Zealand)"	""	"0"	""	""	""	"BE1203"
"00476535"	""	""	""	"1"	""	"00006"	"{PMID:Beecroft 2020:32153140}"	"analysis 2249 neurology patients"	"M"	""	"(Australia);(New Zealand)"	""	"0"	""	""	""	"JD153"
"00476536"	""	""	""	"1"	""	"00006"	"{PMID:Beecroft 2020:32153140}"	"analysis 2249 neurology patients"	"M"	""	"(Australia);(New Zealand)"	""	"0"	""	""	""	"SH1204"
"00476537"	""	""	""	"1"	""	"00006"	"{PMID:Beecroft 2020:32153140}"	"analysis 2249 neurology patients"	"M"	""	"(Australia);(New Zealand)"	""	"0"	""	""	""	"AA1205"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 36
"{{individualid}}"	"{{diseaseid}}"
"00003009"	"00213"
"00003010"	"00213"
"00003011"	"00213"
"00039353"	"00213"
"00039354"	"00213"
"00132963"	"00198"
"00154962"	"00198"
"00218999"	"05113"
"00227944"	"00198"
"00230655"	"00198"
"00245883"	"00198"
"00263901"	"00198"
"00275591"	"00198"
"00290769"	"00198"
"00290770"	"00198"
"00290771"	"00198"
"00324664"	"00213"
"00327003"	"00198"
"00332421"	"00213"
"00398668"	"00213"
"00410545"	"00198"
"00432374"	"04255"
"00444162"	"00325"
"00444163"	"00325"
"00469038"	"00198"
"00472903"	"00213"
"00472972"	"05113"
"00473168"	"05356"
"00473236"	"05113"
"00473293"	"04255"
"00473402"	"05123"
"00476146"	"00325"
"00476147"	"00325"
"00476535"	"00198"
"00476536"	"00198"
"00476537"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00213, 00325, 04255, 05113, 05123, 05356, 05556, 05557
## Count = 29
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000001860"	"00213"	"00003009"	"00130"	"Familial, autosomal dominant"	""	"hereditary spastic paraplegia"	"<00y03m"	""	""	""	""	""	""	""	""	"hereditary spastic paraplegia"	""
"0000001861"	"00213"	"00003010"	"00130"	"Familial, autosomal dominant"	""	"hereditary spastic paraplegia"	"29y"	""	""	""	""	""	""	""	"SPG10"	"hereditary spastic paraplegia"	""
"0000001862"	"00213"	"00003011"	"00130"	"Familial, autosomal dominant"	""	"hereditary spastic paraplegia"	"47y"	""	""	""	""	""	""	""	""	"hereditary spastic paraplegia"	""
"0000029695"	"00213"	"00039353"	"01330"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000029696"	"00213"	"00039354"	"01330"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000105724"	"00198"	"00132963"	"01807"	"Unknown"	""	"Abnormality of movement (HP:0100022); Polyneuropathy (HP:0001271)"	""	""	""	""	""	""	""	""	""	""	""
"0000127694"	"00198"	"00154962"	"01807"	"Unknown"	""	"HP:0001258 (Spastic paraplegia)"	""	""	""	""	""	""	""	""	""	""	""
"0000167556"	"05113"	"00218999"	"00006"	"Unknown"	""	"CMT2 + pyramidal; no family history"	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth diseae"	""
"0000171935"	"00198"	"00227944"	"01807"	"Unknown"	""	"Spastic paraplegia (HP:0001258); Cognitive impairment (HP:0100543)"	""	""	""	""	""	""	""	""	""	""	""
"0000173135"	"00198"	"00230655"	"01807"	"Unknown"	""	"HP:0001258 (Spastic paraplegia)"	""	""	""	""	""	""	""	""	""	""	""
"0000185719"	"00198"	"00245883"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Tall stature (HP:0000098); Pachygyria (HP:0001302); Exotropia (HP:0000577); Astigmatism (HP:0000483); Nystagmus (HP:0000639)"	""	""	""	""	""	""	""	""	""	""	""
"0000201808"	"00198"	"00263901"	"01807"	"Unknown"	""	"Polyneuropathy (HP:0001271)"	""	""	""	""	""	""	""	""	""	""	""
"0000210211"	"00198"	"00275591"	"01807"	"Unknown"	""	"Spastic paraplegia (HP:0001258)"	""	""	""	""	""	""	""	""	""	""	""
"0000243164"	"00213"	"00324664"	"01164"	"Unknown"	"60y"	"Lower limb spasticity, Spastic paraparesis, Spastic gait, Decreased vibratory sense in the lower limbs"	""	""	""	""	""	""	""	""	""	""	""
"0000245482"	"00198"	"00327003"	"01807"	"Unknown"	""	"Ataxia (HP:0001251); Spastic paraplegia (HP:0001258)"	""	""	""	""	""	""	""	""	""	""	""
"0000291834"	"00213"	"00398668"	"04188"	"Familial, autosomal dominant"	"60y"	"Peripheral neuropathy (HP:0009830), Spastic paraplegia (HP:0001258), No decreased nerve conduction velocity (-HP:0000762)"	"40y"	""	"Peripheral neuropathy (HP:0009830), Spastic paraplegia (HP:0001258), No decreased nerve conduction velocity (-HP:0000762)"	""	""	""	""	""	"SPG10"	"CMT"	""
"0000302648"	"00198"	"00410545"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., onset adulthood, axonal polyneuropathy, spastic paraplegia, no family history"	""	""	""	""	""	""	""	""	"SPG10"	""	""
"0000354191"	"00198"	"00469038"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000357698"	"00213"	"00472903"	"04614"	"Familial, autosomal dominant"	"36?"	"Gait disturbance since birth; mother and brother also affected. Required orthopedic shoes as a child; unable to run.\r\nWorsening gait for over 10 years, with increased clumsiness in the right leg. Denies sensory disturbances."	"05y"	"46y"	"Chilhood onset"	""	""	""	""	""	"Spastic paraplegia 10, autosomal dominant"	"Gait disturbance"	""
"0000357767"	"05113"	"00472972"	"00006"	"Unknown"	"29y"	"Febrile convulsions; Muscle weakness; Difficulty walking & climbing stairs; Facial weakness, mild; Muscle wasting; Hand tremor; Foot drop; Pes cavus; Abnormal gait; An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position) (based on HPO nomenclature). EMG-NCV: chronic demyelinating sensorimotor polyneuropathy"	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000357963"	"05356"	"00473168"	"00006"	"Unknown"	"6y"	"onset 4-5 month; Flat feet; Abnormal gait; Neuropathy, lower limbs; Spasticity, lower limbs; Ataxia; Feet deformity."	""	""	""	""	""	""	""	""	""	"hereditary ataxia"	""
"0000358031"	"05113"	"00473236"	"00006"	"Unknown"	"23y"	"onset at the age 15y with lower limb neuropathy, distal; Hand tremor; Lower muscle weakness, due to neuropathy; Difficulty to walk on heels & tip-toes; EMG-NCV: compatible with chronic axonal sensorimotor polyneuropathy. No parental consanguinity, in the presence of family history suspected genetic etiology."	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""
"0000358088"	"04255"	"00473293"	"00006"	"Familial, autosomal dominant"	"66y"	"onset 64y, Muscle weakness, extended from lower to upper limbs, lower>upper; Difficulty rising from seated position; Muscle atrophy; Imbalance; Dizziness; Speech problem; Dysarthria; Dysphagia, intermittent; Ataxia; EMG-NCV: early stage of MND. Consanguineous parents."	""	""	""	""	""	""	""	""	""	"amyotrophic lateral sclerosis"	""
"0000358197"	"05123"	"00473402"	"00006"	"Unknown"	"48y"	"Sporadic case, started 7y, muscle cramp after exercise, fasciculation, mild muscle atrophy in distal upper limb, no facial weakness, motor neuron disease reported in EDX, non specific white matter lesions reported in brain MRI"	""	""	""	""	""	""	""	""	""	"spinal myscular atrophy"	""
"0000360820"	"00325"	"00476146"	"00006"	"Familial, autosomal dominant"	"43y"	"details not specified; ncorrelation clinical diagnosis with genetic diagnosis"	""	""	""	""	""	""	""	""	""	"hereditary spastic paraplegia"	""
"0000360821"	"00325"	"00476147"	"00006"	"Familial, autosomal dominant"	"60y"	"details not specified; ncorrelation clinical diagnosis with genetic diagnosis"	""	""	""	""	""	""	""	""	""	"hereditary spastic paraplegia"	""
"0000361209"	"00198"	"00476535"	"00006"	"Familial, autosomal dominant"	"61y"	"details not specified; ncorrelation clinical diagnosis with genetic diagnosis"	""	""	""	""	""	""	""	""	""	"peripheral nerve disorder"	""
"0000361210"	"00198"	"00476536"	"00006"	"Familial, autosomal dominant"	"27y"	"details not specified; ncorrelation clinical diagnosis with genetic diagnosis"	""	""	""	""	""	""	""	""	""	"peripheral nerve disorder"	""
"0000361211"	"00198"	"00476537"	"00006"	"Familial, autosomal dominant"	"43y"	"details not specified; ncorrelation clinical diagnosis with genetic diagnosis"	""	""	""	""	""	""	""	""	""	"peripheral nerve disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 36
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000002915"	"00003009"	"1"	"00130"	"00008"	"2013-10-02 11:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000002916"	"00003010"	"1"	"00130"	"00008"	"2013-10-02 11:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000002917"	"00003011"	"1"	"00130"	"00008"	"2013-10-02 11:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000039591"	"00039353"	"1"	"01330"	"01330"	"2015-06-13 11:38:16"	""	""	"SEQ"	"DNA"	""	""
"0000039592"	"00039354"	"1"	"01330"	"01330"	"2015-06-13 11:41:40"	""	""	"SEQ"	"DNA"	""	""
"0000133797"	"00132963"	"0"	"01807"	"01807"	"2017-11-10 16:51:16"	""	""	"SEQ"	"DNA"	""	""
"0000155824"	"00154962"	"0"	"01807"	"01807"	"2018-03-07 04:00:37"	""	""	"SEQ"	"DNA"	""	""
"0000220071"	"00218999"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000229030"	"00227944"	"1"	"01807"	"01807"	"2019-03-15 19:53:48"	""	""	"SEQ"	"DNA"	""	""
"0000231751"	"00230655"	"1"	"01807"	"01807"	"2019-04-19 10:37:24"	""	""	"SEQ"	"DNA"	""	""
"0000246995"	"00245883"	"1"	"01807"	"01807"	"2019-07-11 09:47:40"	""	""	"SEQ"	"DNA"	""	""
"0000265012"	"00263901"	"1"	"01807"	"01807"	"2019-08-30 19:56:42"	""	""	"SEQ"	"DNA"	""	""
"0000276749"	"00275591"	"1"	"01807"	"01807"	"2020-01-09 21:04:00"	""	""	"SEQ"	"DNA"	""	""
"0000291937"	"00290769"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291938"	"00290770"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291939"	"00290771"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000325872"	"00324664"	"1"	"01164"	"01164"	"2020-12-21 17:10:26"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000328218"	"00327003"	"1"	"01807"	"01807"	"2021-01-18 14:12:01"	""	""	"SEQ"	"DNA"	""	""
"0000333645"	"00332421"	"1"	"01741"	"01741"	"2021-02-19 10:01:49"	""	""	"SEQ"	"DNA"	""	""
"0000399909"	"00398668"	"1"	"04188"	"04188"	"2022-01-09 13:13:06"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000411810"	"00410545"	"1"	"00006"	"00006"	"2022-05-29 10:39:10"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000433814"	"00432374"	"1"	"01741"	"01741"	"2023-02-22 12:18:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000445660"	"00444162"	"1"	"01709"	"01709"	"2023-12-19 18:11:56"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000445661"	"00444163"	"1"	"01709"	"01709"	"2023-12-19 20:18:00"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000470706"	"00469038"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000474572"	"00472903"	"1"	"04614"	"04614"	"2026-03-06 11:19:46"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole exome sequencing"
"0000474641"	"00472972"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000474837"	"00473168"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000474905"	"00473236"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000474962"	"00473293"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000475071"	"00473402"	"1"	"00006"	"00006"	"2026-03-06 17:24:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000477790"	"00476146"	"1"	"00006"	"00006"	"2026-04-13 18:16:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"336-gene panel"
"0000477791"	"00476147"	"1"	"00006"	"00006"	"2026-04-13 18:16:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"464-gene panel"
"0000478179"	"00476535"	"1"	"00006"	"00006"	"2026-04-13 18:16:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"336-gene panel"
"0000478180"	"00476536"	"1"	"00006"	"00006"	"2026-04-13 18:16:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"464-gene panel"
"0000478181"	"00476537"	"1"	"00006"	"00006"	"2026-04-13 18:16:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"464-gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{geneid}}"
"0000002915"	"KIF5A"
"0000002916"	"KIF5A"
"0000002917"	"KIF5A"
"0000039591"	"KIF5A"
"0000039592"	"KIF5A"
"0000220071"	"KIF5A"
"0000325872"	"KIF5A"
"0000333645"	"KIF5A"
"0000399909"	"KIF5A"
"0000433814"	"KIF5A"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 155
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000021289"	"1"	"70"	"12"	"57961298"	"57961298"	"subst"	"0"	"00130"	"KIF5A_000004"	"g.57961298G>A"	""	"{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.57567515G>A"	""	"likely pathogenic"	""
"0000021290"	"1"	"70"	"12"	"57962782"	"57962782"	"subst"	"0"	"00130"	"KIF5A_000005"	"g.57962782G>A"	""	"{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}"	""	""	"-"	"Unknown"	"?"	""	"0"	""	""	"g.57568999G>A"	""	"likely pathogenic"	""
"0000021291"	"1"	"70"	"12"	"57957995"	"57957995"	"subst"	"0"	"00130"	"KIF5A_000003"	"g.57957995G>A"	""	"{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.57564212G>A"	""	"likely pathogenic"	""
"0000067192"	"0"	"70"	"12"	"57962776"	"57962776"	"subst"	"0"	"01330"	"KIF5A_000001"	"g.57962776C>G"	""	""	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.57568993C>G"	""	"likely pathogenic"	""
"0000067193"	"0"	"50"	"12"	"57974790"	"57974790"	"subst"	"0"	"01330"	"KIF5A_000002"	"g.57974790C>T"	""	""	""	""	""	"De novo"	"?"	""	"0"	""	""	"g.57581007C>T"	""	"VUS"	""
"0000223225"	"0"	"70"	"12"	"57961280"	"57961280"	"subst"	"0"	"01807"	"KIF5A_000006"	"g.57961280T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57567497T>A"	""	"likely pathogenic"	""
"0000247180"	"0"	"50"	"12"	"57970157"	"57970157"	"subst"	"0"	"02330"	"KIF5A_000028"	"g.57970157A>C"	""	""	""	"KIF5A(NM_004984.4):c.2194A>C (p.K732Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57576374A>C"	""	"VUS"	""
"0000250810"	"0"	"30"	"12"	"57975281"	"57975281"	"subst"	"0.000982773"	"02326"	"KIF5A_000032"	"g.57975281A>G"	""	""	""	"KIF5A(NM_004984.3):c.2839A>G (p.T947A), KIF5A(NM_004984.4):c.2839A>G (p.T947A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581498A>G"	""	"likely benign"	""
"0000254029"	"0"	"30"	"12"	"57975281"	"57975281"	"subst"	"0.000982773"	"01943"	"KIF5A_000032"	"g.57975281A>G"	""	""	""	"KIF5A(NM_004984.3):c.2839A>G (p.T947A), KIF5A(NM_004984.4):c.2839A>G (p.T947A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581498A>G"	""	"likely benign"	""
"0000278590"	"0"	"30"	"12"	"57963454"	"57963454"	"subst"	"0.000633489"	"02330"	"KIF5A_000012"	"g.57963454C>T"	""	""	""	"KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57569671C>T"	""	"likely benign"	""
"0000278591"	"0"	"10"	"12"	"57969558"	"57969558"	"subst"	"0.00935077"	"02330"	"KIF5A_000027"	"g.57969558C>T"	""	""	""	"KIF5A(NM_004984.4):c.2023+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57575775C>T"	""	"benign"	""
"0000278592"	"0"	"30"	"12"	"57975211"	"57975211"	"subst"	"0.00405764"	"02330"	"KIF5A_000020"	"g.57975211G>A"	""	""	""	"KIF5A(NM_004984.3):c.2769G>A (p.R923=), KIF5A(NM_004984.4):c.2769G>A (p.R923=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581428G>A"	""	"likely benign"	""
"0000278593"	"0"	"50"	"12"	"57975366"	"57975366"	"subst"	"3.6642E-5"	"02330"	"KIF5A_000033"	"g.57975366G>A"	""	""	""	"KIF5A(NM_004984.4):c.2909+15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581583G>A"	""	"VUS"	""
"0000278594"	"0"	"10"	"12"	"57975700"	"57975700"	"subst"	"0.011167"	"02330"	"KIF5A_000021"	"g.57975700C>T"	""	""	""	"KIF5A(NM_004984.4):c.2957C>T (p.P986L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581917C>T"	""	"benign"	""
"0000278595"	"0"	"10"	"12"	"57963020"	"57963020"	"subst"	"0.00793219"	"02330"	"KIF5A_000026"	"g.57963020G>T"	""	""	""	"KIF5A(NM_004984.4):c.820-19G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57569237G>T"	""	"benign"	""
"0000285818"	"0"	"30"	"12"	"57975700"	"57975700"	"subst"	"0.011167"	"02326"	"KIF5A_000021"	"g.57975700C>T"	""	""	""	"KIF5A(NM_004984.4):c.2957C>T (p.P986L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581917C>T"	""	"likely benign"	""
"0000290324"	"0"	"30"	"12"	"57971508"	"57971508"	"subst"	"3.65556E-5"	"01943"	"KIF5A_000029"	"g.57971508G>A"	""	""	""	"KIF5A(NM_004984.3):c.2313G>A (p.E771=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57577725G>A"	""	"likely benign"	""
"0000290325"	"0"	"30"	"12"	"57975211"	"57975211"	"subst"	"0.00405764"	"01943"	"KIF5A_000020"	"g.57975211G>A"	""	""	""	"KIF5A(NM_004984.3):c.2769G>A (p.R923=), KIF5A(NM_004984.4):c.2769G>A (p.R923=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581428G>A"	""	"likely benign"	""
"0000290326"	"0"	"30"	"12"	"57975217"	"57975217"	"subst"	"3.25087E-5"	"01943"	"KIF5A_000030"	"g.57975217C>A"	""	""	""	"KIF5A(NM_004984.3):c.2775C>A (p.G925=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581434C>A"	""	"likely benign"	""
"0000290327"	"0"	"30"	"12"	"57975245"	"57975245"	"subst"	"1.21841E-5"	"01943"	"KIF5A_000031"	"g.57975245C>T"	""	""	""	"KIF5A(NM_004984.3):c.2803C>T (p.P935S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581462C>T"	""	"likely benign"	""
"0000290328"	"0"	"30"	"12"	"57976959"	"57976959"	"subst"	"0"	"01943"	"KIF5A_000034"	"g.57976959C>T"	""	""	""	"KIF5A(NM_004984.3):c.3096C>T (p.S1032=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57583176C>T"	""	"likely benign"	""
"0000290329"	"0"	"30"	"12"	"57961409"	"57961409"	"subst"	"0.00118986"	"01943"	"KIF5A_000025"	"g.57961409G>A"	""	""	""	"KIF5A(NM_004984.3):c.714+8G>A, KIF5A(NM_004984.4):c.714+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57567626G>A"	""	"likely benign"	""
"0000338442"	"0"	"10"	"12"	"57977003"	"57977003"	"subst"	"0.251706"	"02327"	"KIF5A_000022"	"g.57977003C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57583220C>T"	""	"benign"	""
"0000338443"	"0"	"10"	"12"	"57977040"	"57977040"	"subst"	"0"	"02327"	"KIF5A_000023"	"g.57977040C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57583257C>A"	""	"benign"	""
"0000340251"	"0"	"10"	"12"	"57975211"	"57975211"	"subst"	"0.00405764"	"02327"	"KIF5A_000020"	"g.57975211G>A"	""	""	""	"KIF5A(NM_004984.3):c.2769G>A (p.R923=), KIF5A(NM_004984.4):c.2769G>A (p.R923=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581428G>A"	""	"benign"	""
"0000341070"	"0"	"30"	"12"	"57965933"	"57965933"	"subst"	"0"	"02327"	"KIF5A_000015"	"g.57965933G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57572150G>A"	""	"likely benign"	""
"0000342207"	"0"	"70"	"12"	"57961298"	"57961298"	"subst"	"0"	"02327"	"KIF5A_000004"	"g.57961298G>A"	""	""	""	"KIF5A(NM_004984.4):c.611G>A (p.R204Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57567515G>A"	""	"likely pathogenic"	""
"0000342208"	"0"	"90"	"12"	"57961297"	"57961297"	"subst"	"0"	"02327"	"KIF5A_000009"	"g.57961297C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57567514C>T"	""	"pathogenic"	""
"0000342638"	"0"	"50"	"12"	"57963187"	"57963187"	"subst"	"0"	"02327"	"KIF5A_000011"	"g.57963187G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57569404G>A"	""	"VUS"	""
"0000342750"	"0"	"30"	"12"	"57963454"	"57963454"	"subst"	"0.000633489"	"02327"	"KIF5A_000012"	"g.57963454C>T"	""	""	""	"KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57569671C>T"	""	"likely benign"	""
"0000342841"	"0"	"50"	"12"	"57963874"	"57963874"	"subst"	"1.63075E-5"	"02327"	"KIF5A_000013"	"g.57963874C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57570091C>T"	""	"VUS"	""
"0000345526"	"0"	"50"	"12"	"57970085"	"57970085"	"subst"	"0"	"02327"	"KIF5A_000017"	"g.57970085G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57576302G>T"	""	"VUS"	""
"0000345563"	"0"	"50"	"12"	"57972039"	"57972039"	"subst"	"8.12949E-6"	"02327"	"KIF5A_000019"	"g.57972039G>A"	""	""	""	"KIF5A(NM_004984.4):c.2452G>A (p.E818K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57578256G>A"	""	"VUS"	""
"0000345815"	"0"	"50"	"12"	"57960966"	"57960966"	"subst"	"0"	"02327"	"KIF5A_000008"	"g.57960966G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57567183G>A"	""	"VUS"	""
"0000346905"	"0"	"50"	"12"	"57958282"	"57958283"	"del"	"0"	"02327"	"KIF5A_000007"	"g.57958282_57958283del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57564499_57564500del"	""	"VUS"	""
"0000347222"	"0"	"50"	"12"	"57966454"	"57966454"	"subst"	"0"	"02327"	"KIF5A_000016"	"g.57966454T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57572671T>C"	""	"VUS"	""
"0000347293"	"0"	"50"	"12"	"57970103"	"57970103"	"subst"	"0"	"02327"	"KIF5A_000018"	"g.57970103C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57576320C>G"	""	"VUS"	""
"0000348341"	"0"	"70"	"12"	"57963052"	"57963052"	"subst"	"0"	"02327"	"KIF5A_000010"	"g.57963052C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57569269C>T"	""	"likely pathogenic"	""
"0000348631"	"0"	"10"	"12"	"57975700"	"57975700"	"subst"	"0.011167"	"02327"	"KIF5A_000021"	"g.57975700C>T"	""	""	""	"KIF5A(NM_004984.4):c.2957C>T (p.P986L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57581917C>T"	""	"benign"	""
"0000351296"	"0"	"70"	"12"	"57957995"	"57957995"	"subst"	"0"	"02327"	"KIF5A_000003"	"g.57957995G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.57564212G>A"	""	"likely pathogenic"	""
"0000356905"	"0"	"90"	"12"	"57965859"	"57965859"	"subst"	"0"	"01807"	"KIF5A_000024"	"g.57965859C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57572076C>T"	""	"pathogenic"	""
"0000454964"	"1"	"70"	"12"	"57962816"	"57962816"	"subst"	"0"	"00006"	"KIF5A_000035"	"g.57962816T>C"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	"ACMG pm1, pm2, pp3, pp4"	"Germline"	""	""	"0"	""	""	"g.57569033T>C"	""	"likely pathogenic"	"ACMG"
"0000470172"	"0"	"50"	"12"	"57960982"	"57960982"	"subst"	"0"	"01807"	"KIF5A_000036"	"g.57960982A>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57567199A>T"	""	"likely pathogenic"	""
"0000473832"	"0"	"50"	"12"	"57961301"	"57961301"	"subst"	"0"	"01807"	"KIF5A_000037"	"g.57961301G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57567518G>A"	""	"VUS"	""
"0000499835"	"0"	"90"	"12"	"57975253"	"57975253"	"del"	"0"	"01807"	"KIF5A_000038"	"g.57975253del"	""	""	""	"2811delC"	""	"Unknown"	""	""	"0"	""	""	"g.57581470del"	""	"pathogenic"	""
"0000548783"	"0"	"30"	"12"	"57940372"	"57940372"	"subst"	"0"	"02330"	"DCTN2_000001"	"g.57940372T>C"	""	""	""	"DCTN2(NM_001261412.2):c.36+439A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57546589T>C"	""	"likely benign"	""
"0000548784"	"0"	"30"	"12"	"57940858"	"57940858"	"subst"	"0"	"02330"	"DCTN2_000002"	"g.57940858G>A"	""	""	""	"DCTN2(NM_001261412.2):c.-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57547075G>A"	""	"likely benign"	""
"0000548785"	"0"	"30"	"12"	"57957314"	"57957314"	"subst"	"1.62434E-5"	"01943"	"KIF5A_000039"	"g.57957314T>C"	""	""	""	"KIF5A(NM_004984.3):c.217+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57563531T>C"	""	"likely benign"	""
"0000548786"	"0"	"70"	"12"	"57958739"	"57958739"	"subst"	"4.06105E-6"	"02325"	"KIF5A_000040"	"g.57958739C>T"	""	""	""	"KIF5A(NM_004984.4):c.484C>T (p.R162W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57564956C>T"	""	"likely pathogenic"	""
"0000548787"	"0"	"30"	"12"	"57960902"	"57960902"	"subst"	"0"	"01943"	"KIF5A_000041"	"g.57960902C>T"	""	""	""	"KIF5A(NM_004984.3):c.502-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57567119C>T"	""	"likely benign"	""
"0000548788"	"0"	"30"	"12"	"57961016"	"57961016"	"subst"	"4.06134E-6"	"02330"	"KIF5A_000042"	"g.57961016G>A"	""	""	""	"KIF5A(NM_004984.4):c.589+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57567233G>A"	""	"likely benign"	""
"0000548789"	"0"	"50"	"12"	"57963186"	"57963186"	"subst"	"0"	"02327"	"KIF5A_000043"	"g.57963186C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57569403C>T"	""	"VUS"	""
"0000548790"	"0"	"50"	"12"	"57963454"	"57963454"	"subst"	"0.000633489"	"01943"	"KIF5A_000012"	"g.57963454C>T"	""	""	""	"KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57569671C>T"	""	"VUS"	""
"0000548791"	"0"	"30"	"12"	"57963454"	"57963454"	"subst"	"0.000633489"	"02325"	"KIF5A_000012"	"g.57963454C>T"	""	""	""	"KIF5A(NM_004984.3):c.1105C>T (p.R369W), KIF5A(NM_004984.4):c.1105C>T (p.R369W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57569671C>T"	""	"likely benign"	""
"0000548792"	"0"	"50"	"12"	"57963455"	"57963455"	"subst"	"8.22538E-6"	"02327"	"KIF5A_000044"	"g.57963455G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57569672G>A"	""	"VUS"	""
"0000548793"	"0"	"50"	"12"	"57963455"	"57963455"	"subst"	"0"	"02330"	"KIF5A_000045"	"g.57963455G>T"	""	""	""	"KIF5A(NM_004984.4):c.1106G>T (p.R369L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57569672G>T"	""	"VUS"	""
"0000548794"	"0"	"50"	"12"	"57963456"	"57963456"	"subst"	"0"	"02330"	"KIF5A_000046"	"g.57963456G>C"	""	""	""	"KIF5A(NM_004984.4):c.1107G>C (p.R369=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57569673G>C"	""	"VUS"	""
"0000548795"	"0"	"30"	"12"	"57963817"	"57963817"	"subst"	"0"	"02330"	"KIF5A_000047"	"g.57963817C>T"	""	""	""	"KIF5A(NM_004984.4):c.1165C>T (p.L389=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57570034C>T"	""	"likely benign"	""
"0000548796"	"0"	"50"	"12"	"57963910"	"57963912"	"del"	"0"	"02329"	"KIF5A_000048"	"g.57963910_57963912del"	""	""	""	"KIF5A(NM_004984.4):c.1258_1260delGAG (p.E420del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57570127_57570129del"	""	"VUS"	""
"0000548797"	"0"	"50"	"12"	"57970116"	"57970116"	"subst"	"0"	"02327"	"KIF5A_000049"	"g.57970116G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57576333G>T"	""	"VUS"	""
"0000548798"	"0"	"30"	"12"	"57975281"	"57975281"	"subst"	"0.000982773"	"02330"	"KIF5A_000032"	"g.57975281A>G"	""	""	""	"KIF5A(NM_004984.3):c.2839A>G (p.T947A), KIF5A(NM_004984.4):c.2839A>G (p.T947A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57581498A>G"	""	"likely benign"	""
"0000548799"	"0"	"30"	"12"	"57975747"	"57975747"	"dup"	"0"	"02330"	"KIF5A_000050"	"g.57975747dup"	""	""	""	"KIF5A(NM_004984.4):c.2992+12dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57581964dup"	""	"likely benign"	""
"0000595591"	"0"	"70"	"12"	"57974956"	"57974956"	"subst"	"0"	"01807"	"KIF5A_000051"	"g.57974956G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57581173G>T"	""	"likely pathogenic"	""
"0000614321"	"0"	"50"	"12"	"57944106"	"57944106"	"subst"	"4.0622E-6"	"02330"	"DCTN2_000004"	"g.57944106C>T"	""	""	""	"KIF5A(NM_004984.4):c.52C>T (p.P18S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57550323C>T"	""	"VUS"	""
"0000614322"	"0"	"50"	"12"	"57961376"	"57961376"	"subst"	"0"	"02327"	"KIF5A_000052"	"g.57961376T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57567593T>C"	""	"VUS"	""
"0000614323"	"0"	"10"	"12"	"57963954"	"57963954"	"subst"	"0.00181315"	"02330"	"KIF5A_000054"	"g.57963954G>A"	""	""	""	"KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57570171G>A"	""	"benign"	""
"0000614324"	"0"	"50"	"12"	"57969883"	"57969883"	"subst"	"4.06072E-6"	"02326"	"KIF5A_000055"	"g.57969883A>C"	""	""	""	"KIF5A(NM_004984.4):c.2037A>C (p.E679D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57576100A>C"	""	"VUS"	""
"0000614325"	"0"	"10"	"12"	"57971848"	"57971848"	"subst"	"0.000808161"	"02330"	"KIF5A_000057"	"g.57971848G>A"	""	""	""	"KIF5A(NM_004984.4):c.2418G>A (p.T806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57578065G>A"	""	"benign"	""
"0000622948"	"0"	"90"	"12"	"57961298"	"57961298"	"subst"	"0"	"02330"	"KIF5A_000004"	"g.57961298G>A"	""	""	""	"KIF5A(NM_004984.4):c.611G>A (p.R204Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57567515G>A"	""	"pathogenic"	""
"0000622949"	"0"	"30"	"12"	"57963802"	"57963802"	"subst"	"0.000451903"	"02330"	"KIF5A_000053"	"g.57963802G>C"	""	""	""	"KIF5A(NM_004984.4):c.1150G>C (p.G384R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57570019G>C"	""	"likely benign"	""
"0000622950"	"0"	"30"	"12"	"57970617"	"57970617"	"subst"	"0.000641781"	"02330"	"KIF5A_000056"	"g.57970617G>A"	""	""	""	"KIF5A(NM_004984.3):c.2272G>A (p.E758K), KIF5A(NM_004984.4):c.2272G>A (p.E758K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57576834G>A"	""	"likely benign"	""
"0000630882"	"0"	"90"	"12"	"57966429"	"57966429"	"subst"	"4.06078E-6"	"01807"	"KIF5A_000058"	"g.57966429C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57572646C>T"	""	"pathogenic"	""
"0000648626"	"1"	"90"	"12"	"57961298"	"57961298"	"subst"	"0"	"03575"	"KIF5A_000004"	"g.57961298G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs387907287}"	"Germline"	""	"rs387907287"	"0"	""	""	"g.57567515G>A"	""	"pathogenic"	""
"0000648627"	"1"	"50"	"12"	"57963454"	"57963454"	"subst"	"0.000633489"	"03575"	"KIF5A_000012"	"g.57963454C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs140929639}"	"Germline"	""	"rs140929639"	"0"	""	""	"g.57569671C>T"	""	"VUS"	""
"0000648628"	"1"	"30"	"12"	"57975700"	"57975700"	"subst"	"0.011167"	"03575"	"KIF5A_000021"	"g.57975700C>T"	"15/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"15 heterozygous, no homozygous; {DB:CLININrs113247976}"	"Germline"	""	"rs113247976"	"0"	""	""	"g.57581917C>T"	""	"likely benign"	""
"0000657164"	"0"	"50"	"12"	"57939824"	"57939824"	"subst"	"0.000231481"	"02330"	"DCTN2_000005"	"g.57939824G>A"	""	""	""	"DCTN2(NM_001348065.2):c.221C>T (p.A74V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57546041G>A"	""	"VUS"	""
"0000657165"	"0"	"50"	"12"	"57966034"	"57966034"	"subst"	"0"	"02327"	"KIF5A_000059"	"g.57966034A>T"	""	""	""	"KIF5A(NM_004984.4):c.1553A>T (p.E518V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57572251A>T"	""	"VUS"	""
"0000657166"	"0"	"50"	"12"	"57966495"	"57966495"	"subst"	"1.21831E-5"	"02327"	"KIF5A_000060"	"g.57966495G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57572712G>A"	""	"VUS"	""
"0000657167"	"0"	"30"	"12"	"57971848"	"57971848"	"subst"	"0.000808161"	"02326"	"KIF5A_000057"	"g.57971848G>A"	""	""	""	"KIF5A(NM_004984.4):c.2418G>A (p.T806=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57578065G>A"	""	"likely benign"	""
"0000657168"	"0"	"50"	"12"	"57976415"	"57976415"	"subst"	"0"	"02327"	"KIF5A_000061"	"g.57976415A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.57582632A>G"	""	"VUS"	""
"0000679608"	"0"	"70"	"12"	"57957448"	"57957448"	"subst"	"0"	"02325"	"KIF5A_000062"	"g.57957448C>T"	""	""	""	"KIF5A(NM_004984.4):c.263C>T (p.T88I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000679609"	"0"	"30"	"12"	"57958726"	"57958726"	"subst"	"0.000462933"	"01943"	"KIF5A_000063"	"g.57958726C>T"	""	""	""	"KIF5A(NM_004984.3):c.471C>T (p.H157=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000679610"	"0"	"50"	"12"	"57966055"	"57966055"	"subst"	"0"	"02325"	"KIF5A_000064"	"g.57966055G>A"	""	""	""	"KIF5A(NM_004984.4):c.1569+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691398"	"0"	"70"	"12"	"57965859"	"57965859"	"subst"	"0"	"01943"	"KIF5A_000024"	"g.57965859C>T"	""	""	""	"KIF5A(NM_004984.3):c.1378C>T (p.R460*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000691399"	"0"	"50"	"12"	"57966055"	"57966055"	"subst"	"0"	"02327"	"KIF5A_000064"	"g.57966055G>A"	""	""	""	"KIF5A(NM_004984.4):c.1569+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000709027"	"0"	"70"	"12"	"57957883"	"57957899"	"del"	"0"	"01164"	"KIF5A_000065"	"g.57957883_57957899del"	""	""	""	""	"ACMG: PVS1, PM2: class 4"	"Germline"	"?"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000712150"	"0"	"50"	"12"	"57963382"	"57963382"	"subst"	"0"	"01807"	"KIF5A_000066"	"g.57963382A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000724163"	"0"	"30"	"12"	"57944072"	"57944072"	"subst"	"0"	"02330"	"DCTN2_000009"	"g.57944072C>T"	""	""	""	"KIF5A(NM_004984.4):c.18C>T (p.N6=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724164"	"0"	"50"	"12"	"57957445"	"57957445"	"subst"	"0"	"02330"	"KIF5A_000067"	"g.57957445A>G"	""	""	""	"KIF5A(NM_004984.4):c.260A>G (p.Q87R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724165"	"0"	"30"	"12"	"57963816"	"57963816"	"subst"	"8.1414E-6"	"02330"	"KIF5A_000068"	"g.57963816C>A"	""	""	""	"KIF5A(NM_004984.4):c.1164C>A (p.A388=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724166"	"0"	"30"	"12"	"57963954"	"57963954"	"subst"	"0.00181315"	"01943"	"KIF5A_000054"	"g.57963954G>A"	""	""	""	"KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724167"	"0"	"30"	"12"	"57963954"	"57963954"	"subst"	"0.00181315"	"02326"	"KIF5A_000054"	"g.57963954G>A"	""	""	""	"KIF5A(NM_004984.3):c.1293+9G>A, KIF5A(NM_004984.4):c.1293+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724168"	"0"	"30"	"12"	"57970540"	"57970540"	"subst"	"0.000865432"	"02326"	"KIF5A_000069"	"g.57970540G>A"	""	""	""	"KIF5A(NM_004984.4):c.2199-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000731365"	"0"	"90"	"12"	"57944150"	"57944151"	"del"	"0"	"01741"	"KIF5A_000070"	"g.57944150_57944151del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57550367_57550368del"	""	"pathogenic"	""
"0000805877"	"0"	"50"	"12"	"57962799"	"57962799"	"subst"	"0"	"02330"	"KIF5A_000071"	"g.57962799C>A"	""	""	""	"KIF5A(NM_004984.4):c.768C>A (p.N256K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805878"	"0"	"90"	"12"	"57965139"	"57965139"	"dup"	"0"	"01943"	"KIF5A_000072"	"g.57965139dup"	""	""	""	"KIF5A(NM_004984.3):c.1329dupG (p.K444Efs*38)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000805879"	"0"	"30"	"12"	"57969886"	"57969886"	"subst"	"0.000337042"	"01943"	"KIF5A_000073"	"g.57969886G>A"	""	""	""	"KIF5A(NM_004984.3):c.2040G>A (p.V680=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805880"	"0"	"50"	"12"	"57972039"	"57972039"	"subst"	"8.12949E-6"	"02329"	"KIF5A_000019"	"g.57972039G>A"	""	""	""	"KIF5A(NM_004984.4):c.2452G>A (p.E818K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000832575"	"21"	"90"	"12"	"57975310"	"57975312"	"del"	"1.2184E-5"	"04188"	"KIF5A_000074"	"g.57975310_57975312del"	""	"{PMID:Ferese 2021:34354735}"	""	"2868_2870delTCT"	"ACMG: PM1-PM2-PM4-PP3"	"Germline"	""	"rs575223790"	""	""	""	"g.57581527_57581529del"	"SCV001424521"	"likely pathogenic (dominant)"	"ACMG"
"0000853471"	"0"	"50"	"12"	"57963319"	"57963319"	"subst"	"0"	"02330"	"KIF5A_000077"	"g.57963319G>A"	""	""	""	"KIF5A(NM_004984.2):c.970G>A (p.(Ala324Thr)), KIF5A(NM_004984.4):c.970G>A (p.A324T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853472"	"0"	"50"	"12"	"57970086"	"57970086"	"subst"	"0"	"02327"	"KIF5A_000079"	"g.57970086A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853473"	"0"	"30"	"12"	"57970617"	"57970617"	"subst"	"0.000641781"	"01943"	"KIF5A_000056"	"g.57970617G>A"	""	""	""	"KIF5A(NM_004984.3):c.2272G>A (p.E758K), KIF5A(NM_004984.4):c.2272G>A (p.E758K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863081"	"0"	"50"	"12"	"57944106"	"57944106"	"subst"	"4.0622E-6"	"02327"	"DCTN2_000004"	"g.57944106C>T"	""	""	""	"KIF5A(NM_004984.4):c.52C>T (p.P18S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863083"	"0"	"50"	"12"	"57957481"	"57957481"	"subst"	"1.21825E-5"	"02326"	"KIF5A_000076"	"g.57957481G>A"	""	""	""	"KIF5A(NM_004984.4):c.291+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000863084"	"0"	"30"	"12"	"57965870"	"57965870"	"subst"	"0.000211497"	"02330"	"KIF5A_000078"	"g.57965870C>T"	""	""	""	"KIF5A(NM_004984.4):c.1389C>T (p.N463=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863085"	"0"	"30"	"12"	"57970616"	"57970616"	"subst"	"8.1242E-6"	"01943"	"KIF5A_000080"	"g.57970616C>T"	""	""	""	"KIF5A(NM_004984.3):c.2271C>T (p.H757=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863086"	"0"	"50"	"12"	"57971509"	"57971509"	"subst"	"0"	"02327"	"KIF5A_000081"	"g.57971509C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000869047"	"0"	"70"	"12"	"57963186"	"57963186"	"subst"	"0"	"00006"	"KIF5A_000043"	"g.57963186C>T"	""	"{PMID:Schuermans 2022:35606766}"	""	""	"ACMG PVS1, PM1, PM2, PP2, PP3"	"De novo"	""	""	"0"	""	""	"g.57569403C>T"	""	"likely pathogenic (recessive)"	""
"0000890709"	"0"	"30"	"12"	"57965870"	"57965870"	"subst"	"0.000211497"	"02326"	"KIF5A_000078"	"g.57965870C>T"	""	""	""	"KIF5A(NM_004984.4):c.1389C>T (p.N463=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890710"	"0"	"30"	"12"	"57969420"	"57969420"	"subst"	"4.06101E-6"	"02325"	"KIF5A_000082"	"g.57969420C>T"	""	""	""	"KIF5A(NM_004984.4):c.1906-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890711"	"0"	"30"	"12"	"57970592"	"57970592"	"subst"	"2.84329E-5"	"02330"	"KIF5A_000083"	"g.57970592C>T"	""	""	""	"KIF5A(NM_004984.4):c.2247C>T (p.Y749=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890712"	"0"	"30"	"12"	"57970617"	"57970617"	"subst"	"0.000641781"	"02325"	"KIF5A_000056"	"g.57970617G>A"	""	""	""	"KIF5A(NM_004984.3):c.2272G>A (p.E758K), KIF5A(NM_004984.4):c.2272G>A (p.E758K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000890713"	"0"	"50"	"12"	"57975733"	"57975733"	"subst"	"1.62437E-5"	"02327"	"KIF5A_000084"	"g.57975733A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913918"	"0"	"10"	"12"	"57958009"	"57958009"	"subst"	"0.00168478"	"02326"	"KIF5A_000085"	"g.57958009G>A"	""	""	""	"KIF5A(NM_004984.4):c.396+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000913919"	"0"	"10"	"12"	"57961409"	"57961409"	"subst"	"0.00118986"	"02330"	"KIF5A_000025"	"g.57961409G>A"	""	""	""	"KIF5A(NM_004984.3):c.714+8G>A, KIF5A(NM_004984.4):c.714+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000919457"	"0"	"50"	"12"	"57974844"	"57974844"	"subst"	"0"	"01741"	"KIF5A_000086"	"g.57974844G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	""
"0000925670"	"0"	"90"	"12"	"57965956"	"57965959"	"del"	"0"	"02325"	"KIF5A_000087"	"g.57965956_57965959del"	""	""	""	"KIF5A(NM_004984.4):c.1475_1478delAGGA (p.E492Gfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000925671"	"0"	"30"	"12"	"57975747"	"57975747"	"dup"	"0"	"02326"	"KIF5A_000050"	"g.57975747dup"	""	""	""	"KIF5A(NM_004984.4):c.2992+12dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000953803"	"0"	"70"	"12"	"57966423"	"57966423"	"subst"	"4.06081E-6"	"01709"	"KIF5A_000089"	"g.57966423C>T"	""	""	""	""	""	"Unknown"	""	"rs1318854821"	"0"	""	""	"g.57572640C>T"	""	"likely pathogenic"	"ACMG"
"0000953804"	"0"	"50"	"12"	"57963371"	"57963371"	"subst"	"0"	"01709"	"KIF5A_000088"	"g.57963371A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.57569588A>G"	""	"VUS"	"ACMG"
"0000967017"	"0"	"30"	"12"	"57957244"	"57957244"	"subst"	"0.000150249"	"02326"	"KIF5A_000090"	"g.57957244G>A"	""	""	""	"KIF5A(NM_004984.4):c.152G>A (p.R51H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967018"	"0"	"70"	"12"	"57962782"	"57962782"	"subst"	"0"	"02327"	"KIF5A_000005"	"g.57962782G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000980399"	"0"	"50"	"12"	"57957472"	"57957472"	"subst"	"0"	"01804"	"KIF5A_000091"	"g.57957472T>G"	""	""	""	"KIF5A(NM_004984.4):c.287T>G (p.(Met96Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980400"	"0"	"50"	"12"	"57957930"	"57957930"	"subst"	"0"	"01804"	"KIF5A_000092"	"g.57957930C>T"	""	""	""	"KIF5A(NM_004984.4):c.331C>T (p.(Arg111Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980401"	"0"	"50"	"12"	"57958280"	"57958280"	"subst"	"0"	"02327"	"KIF5A_000093"	"g.57958280A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980402"	"0"	"50"	"12"	"57970125"	"57970125"	"subst"	"0"	"02330"	"KIF5A_000094"	"g.57970125T>G"	""	""	""	"KIF5A(NM_004984.4):c.2162T>G (p.I721S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000980403"	"0"	"10"	"12"	"57970540"	"57970540"	"subst"	"0.000865432"	"02330"	"KIF5A_000069"	"g.57970540G>A"	""	""	""	"KIF5A(NM_004984.4):c.2199-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001000259"	"0"	"50"	"12"	"57963319"	"57963319"	"subst"	"0"	"01804"	"KIF5A_000077"	"g.57963319G>A"	""	""	""	"KIF5A(NM_004984.2):c.970G>A (p.(Ala324Thr)), KIF5A(NM_004984.4):c.970G>A (p.A324T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000260"	"0"	"50"	"12"	"57965844"	"57965844"	"subst"	"0"	"01804"	"KIF5A_000095"	"g.57965844C>T"	""	""	""	"KIF5A(NM_004984.2):c.1363C>T (p.(Leu455Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000261"	"0"	"50"	"12"	"57970125"	"57970125"	"subst"	"0"	"02329"	"KIF5A_000094"	"g.57970125T>G"	""	""	""	"KIF5A(NM_004984.4):c.2162T>G (p.I721S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000262"	"0"	"50"	"12"	"57970626"	"57970626"	"subst"	"0"	"01804"	"KIF5A_000096"	"g.57970626A>G"	""	""	""	"KIF5A(NM_004984.2):c.2281A>G (p.(Thr761Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015005"	"0"	"10"	"12"	"57958009"	"57958009"	"subst"	"0.00168478"	"02330"	"KIF5A_000085"	"g.57958009G>A"	""	""	""	"KIF5A(NM_004984.4):c.396+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001015006"	"0"	"30"	"12"	"57963802"	"57963802"	"subst"	"0.000451903"	"02325"	"KIF5A_000053"	"g.57963802G>C"	""	""	""	"KIF5A(NM_004984.4):c.1150G>C (p.G384R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015007"	"0"	"10"	"12"	"57963828"	"57963828"	"subst"	"0.00563435"	"02330"	"KIF5A_000097"	"g.57963828G>A"	""	""	""	"KIF5A(NM_004984.4):c.1176G>A (p.E392=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001015008"	"0"	"30"	"12"	"57963916"	"57963916"	"subst"	"0.000130817"	"02330"	"KIF5A_000098"	"g.57963916C>T"	""	""	""	"KIF5A(NM_004984.4):c.1264C>T (p.R422C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015009"	"0"	"50"	"12"	"57966034"	"57966034"	"subst"	"0"	"02325"	"KIF5A_000059"	"g.57966034A>T"	""	""	""	"KIF5A(NM_004984.4):c.1553A>T (p.E518V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026220"	"0"	"30"	"12"	"57969443"	"57969443"	"subst"	"6.49757E-5"	"02330"	"KIF5A_000099"	"g.57969443G>A"	""	""	""	"KIF5A(NM_004984.4):c.1926G>A (p.S642=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039393"	"0"	"50"	"12"	"57957931"	"57957931"	"subst"	"0"	"02325"	"KIF5A_000100"	"g.57957931G>C"	""	""	""	"KIF5A(NM_004984.4):c.332G>C (p.R111P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039394"	"0"	"50"	"12"	"57965883"	"57965883"	"subst"	"4.06669E-6"	"02325"	"KIF5A_000101"	"g.57965883C>T"	""	""	""	"KIF5A(NM_004984.4):c.1402C>T (p.R468W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039395"	"0"	"30"	"12"	"57968584"	"57968584"	"subst"	"0"	"01804"	"KIF5A_000102"	"g.57968584T>C"	""	""	""	"KIF5A(NM_004984.4):c.1717-283T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001054383"	"0"	"50"	"12"	"57944148"	"57944148"	"subst"	"0"	"01804"	"DCTN2_000014"	"g.57944148C>A"	""	""	""	"KIF5A(NM_004984.4):c.94C>A (p.(Pro32Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054384"	"0"	"50"	"12"	"57957481"	"57957481"	"subst"	"1.21825E-5"	"01804"	"KIF5A_000076"	"g.57957481G>A"	""	""	""	"KIF5A(NM_004984.4):c.291+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054385"	"0"	"30"	"12"	"57974872"	"57974872"	"subst"	"5.69018E-5"	"01804"	"KIF5A_000103"	"g.57974872G>A"	""	""	""	"KIF5A(NM_004984.4):c.2672G>A (p.(Arg891His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001058828"	"0"	"90"	"12"	"57961298"	"57961298"	"subst"	"0"	"00006"	"KIF5A_000004"	"g.57961298G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.57567515G>A"	""	"pathogenic"	""
"0001068968"	"0"	"70"	"12"	"57961383"	"57961383"	"subst"	"0"	"04614"	"KIF5A_000104"	"g.57961383C>G"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.57567600C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0001069235"	"0"	"50"	"12"	"57965176"	"57965176"	"subst"	"4.0621E-6"	"00006"	"KIF5A_000106"	"g.57965176A>G"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.57571393A>G"	"SCV006075007"	"VUS"	"ACMG"
"0001069303"	"0"	"50"	"12"	"57962799"	"57962801"	"del"	"0"	"00006"	"KIF5A_000105"	"g.57962799_57962801del"	""	"{PMID:Molaei 2025:41315541}"	""	"768_770delCAA"	"ACMG PM1, PM2, PM4"	"Germline"	""	""	"0"	""	""	"g.57569016_57569018del"	"SCV006075006"	"VUS"	"ACMG"
"0001069360"	"0"	"70"	"12"	"57976413"	"57976413"	"subst"	"0"	"00006"	"KIF5A_000109"	"g.57976413G>A"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PVS1_str, PM2, PP5"	"Germline"	""	""	"0"	""	""	"g.57582630G>A"	"SCV006075009"	"likely pathogenic"	"ACMG"
"0001069468"	"0"	"50"	"12"	"57976385"	"57976385"	"subst"	"0"	"00006"	"KIF5A_000108"	"g.57976385G>T"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PM2, PP3, PP2, PM1"	"Germline"	""	""	"0"	""	""	"g.57582602G>T"	"SCV006075008"	"VUS"	"ACMG"
"0001070123"	"0"	"50"	"12"	"57969522"	"57969522"	"subst"	"4.06157E-6"	"00006"	"KIF5A_000107"	"g.57969522G>A"	""	"{PMID:Molaei 2025:41315541}"	""	""	"ACMG PM2, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.57575739G>A"	"SCV001167090"	"VUS"	"ACMG"
"0001073177"	"0"	"90"	"12"	"57961391"	"57961391"	"subst"	"0"	"00006"	"chr12_009385"	"g.57961391G>A"	""	"{PMID:Beecroft 2020:32153140}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57567608G>A"	""	"pathogenic (dominant)"	""
"0001073178"	"0"	"90"	"12"	"57965149"	"57965149"	"subst"	"0"	"00006"	"chr12_009386"	"g.57965149C>T"	""	"{PMID:Beecroft 2020:32153140}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57571366C>T"	""	"pathogenic (dominant)"	""
"0001073566"	"0"	"90"	"12"	"57962756"	"57962756"	"subst"	"0"	"00006"	"chr12_009388"	"g.57962756C>A"	""	"{PMID:Beecroft 2020:32153140}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57568973C>A"	""	"pathogenic (dominant)"	""
"0001073567"	"0"	"90"	"12"	"57963058"	"57963058"	"subst"	"0"	"00006"	"chr12_009389"	"g.57963058G>A"	""	"{PMID:Beecroft 2020:32153140}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57569275G>A"	""	"pathogenic (dominant)"	""
"0001073568"	"0"	"90"	"12"	"57961378"	"57961378"	"subst"	"0"	"00006"	"chr12_009390"	"g.57961378G>A"	""	"{PMID:Beecroft 2020:32153140}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.57567595G>A"	""	"pathogenic (dominant)"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes KIF5A
## Count = 155
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000021289"	"00010584"	"70"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.(?)"	"p.(Arg204Gln)"	""
"0000021290"	"00010584"	"70"	"751"	"0"	"751"	"0"	"c.751G>A"	"r.(?)"	"p.(Glu251Lys)"	"-"
"0000021291"	"00010584"	"70"	"396"	"0"	"396"	"0"	"c.396G>A"	"r.396_397ins396+1_397-1"	"p.?"	"-"
"0000067192"	"00010584"	"70"	"745"	"0"	"745"	"0"	"c.745C>G"	"r.(?)"	"p.(Leu249Val)"	"9"
"0000067193"	"00010584"	"50"	"2590"	"0"	"2590"	"0"	"c.2590C>T"	"r.(?)"	"p.(Arg864*)"	"24"
"0000223225"	"00010584"	"70"	"593"	"0"	"593"	"0"	"c.593T>A"	"r.(?)"	"p.(Met198Lys)"	""
"0000247180"	"00010584"	"50"	"2194"	"0"	"2194"	"0"	"c.2194A>C"	"r.(?)"	"p.(Lys732Gln)"	""
"0000250810"	"00010584"	"30"	"2839"	"0"	"2839"	"0"	"c.2839A>G"	"r.(?)"	"p.(Thr947Ala)"	""
"0000254029"	"00010584"	"30"	"2839"	"0"	"2839"	"0"	"c.2839A>G"	"r.(?)"	"p.(Thr947Ala)"	""
"0000278590"	"00010584"	"30"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Arg369Trp)"	""
"0000278591"	"00010584"	"10"	"2023"	"18"	"2023"	"18"	"c.2023+18C>T"	"r.(=)"	"p.(=)"	""
"0000278592"	"00010584"	"30"	"2769"	"0"	"2769"	"0"	"c.2769G>A"	"r.(?)"	"p.(Arg923=)"	""
"0000278593"	"00010584"	"50"	"2909"	"15"	"2909"	"15"	"c.2909+15G>A"	"r.(=)"	"p.(=)"	""
"0000278594"	"00010584"	"10"	"2957"	"0"	"2957"	"0"	"c.2957C>T"	"r.(?)"	"p.(Pro986Leu)"	""
"0000278595"	"00010584"	"10"	"820"	"-19"	"820"	"-19"	"c.820-19G>T"	"r.(=)"	"p.(=)"	""
"0000285818"	"00010584"	"30"	"2957"	"0"	"2957"	"0"	"c.2957C>T"	"r.(?)"	"p.(Pro986Leu)"	""
"0000290324"	"00010584"	"30"	"2313"	"0"	"2313"	"0"	"c.2313G>A"	"r.(?)"	"p.(Glu771=)"	""
"0000290325"	"00010584"	"30"	"2769"	"0"	"2769"	"0"	"c.2769G>A"	"r.(?)"	"p.(Arg923=)"	""
"0000290326"	"00010584"	"30"	"2775"	"0"	"2775"	"0"	"c.2775C>A"	"r.(?)"	"p.(Gly925=)"	""
"0000290327"	"00010584"	"30"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Pro935Ser)"	""
"0000290328"	"00010584"	"30"	"3096"	"0"	"3096"	"0"	"c.3096C>T"	"r.(?)"	"p.(Ser1032=)"	""
"0000290329"	"00010584"	"30"	"714"	"8"	"714"	"8"	"c.714+8G>A"	"r.(=)"	"p.(=)"	""
"0000338442"	"00010584"	"10"	"3135"	"5"	"3135"	"5"	"c.*36+5C>T"	"r.spl?"	"p.?"	""
"0000338443"	"00010584"	"10"	"3135"	"42"	"3135"	"42"	"c.*36+42C>A"	"r.(=)"	"p.(=)"	""
"0000340251"	"00010584"	"10"	"2769"	"0"	"2769"	"0"	"c.2769G>A"	"r.(?)"	"p.(Arg923=)"	""
"0000341070"	"00010584"	"30"	"1452"	"0"	"1452"	"0"	"c.1452G>A"	"r.(?)"	"p.(Val484=)"	""
"0000342207"	"00010584"	"70"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.(?)"	"p.(Arg204Gln)"	""
"0000342208"	"00010584"	"90"	"610"	"0"	"610"	"0"	"c.610C>T"	"r.(?)"	"p.(Arg204Trp)"	""
"0000342638"	"00010584"	"50"	"968"	"0"	"968"	"0"	"c.968G>A"	"r.(?)"	"p.(Arg323Gln)"	""
"0000342750"	"00010584"	"30"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Arg369Trp)"	""
"0000342841"	"00010584"	"50"	"1222"	"0"	"1222"	"0"	"c.1222C>T"	"r.(?)"	"p.(Arg408Cys)"	""
"0000345526"	"00010584"	"50"	"2122"	"0"	"2122"	"0"	"c.2122G>T"	"r.(?)"	"p.(Glu708Ter)"	""
"0000345563"	"00010584"	"50"	"2452"	"0"	"2452"	"0"	"c.2452G>A"	"r.(?)"	"p.(Glu818Lys)"	""
"0000345815"	"00010584"	"50"	"559"	"0"	"559"	"0"	"c.559G>A"	"r.(?)"	"p.(Gly187Arg)"	""
"0000346905"	"00010584"	"50"	"436"	"0"	"437"	"0"	"c.436_437del"	"r.(?)"	"p.(Leu146SerfsTer25)"	""
"0000347222"	"00010584"	"50"	"1661"	"0"	"1661"	"0"	"c.1661T>C"	"r.(?)"	"p.(Leu554Pro)"	""
"0000347293"	"00010584"	"50"	"2140"	"0"	"2140"	"0"	"c.2140C>G"	"r.(?)"	"p.(Leu714Val)"	""
"0000348341"	"00010584"	"70"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Pro278Leu)"	""
"0000348631"	"00010584"	"10"	"2957"	"0"	"2957"	"0"	"c.2957C>T"	"r.(?)"	"p.(Pro986Leu)"	""
"0000351296"	"00010584"	"70"	"396"	"0"	"396"	"0"	"c.396G>A"	"r.(?)"	"p.(Lys132=)"	""
"0000356905"	"00010584"	"90"	"1378"	"0"	"1378"	"0"	"c.1378C>T"	"r.(?)"	"p.(Arg460*)"	""
"0000454964"	"00010584"	"70"	"785"	"0"	"785"	"0"	"c.785T>C"	"r.(?)"	"p.(Leu262Pro)"	""
"0000470172"	"00010584"	"50"	"575"	"0"	"575"	"0"	"c.575A>T"	"r.(?)"	"p.(His192Leu)"	""
"0000473832"	"00010584"	"50"	"614"	"0"	"614"	"0"	"c.614G>A"	"r.(?)"	"p.(Ser205Asn)"	""
"0000499835"	"00010584"	"90"	"2811"	"0"	"2811"	"0"	"c.2811del"	"r.(?)"	"p.(Thr938Profs*110)"	""
"0000548783"	"00010584"	"30"	"-3683"	"0"	"-3683"	"0"	"c.-3683T>C"	"r.(?)"	"p.(=)"	""
"0000548784"	"00010584"	"30"	"-3197"	"0"	"-3197"	"0"	"c.-3197G>A"	"r.(?)"	"p.(=)"	""
"0000548785"	"00010584"	"30"	"217"	"5"	"217"	"5"	"c.217+5T>C"	"r.spl?"	"p.?"	""
"0000548786"	"00010584"	"70"	"484"	"0"	"484"	"0"	"c.484C>T"	"r.(?)"	"p.(Arg162Trp)"	""
"0000548787"	"00010584"	"30"	"502"	"-7"	"502"	"-7"	"c.502-7C>T"	"r.(=)"	"p.(=)"	""
"0000548788"	"00010584"	"30"	"589"	"20"	"589"	"20"	"c.589+20G>A"	"r.(=)"	"p.(=)"	""
"0000548789"	"00010584"	"50"	"967"	"0"	"967"	"0"	"c.967C>T"	"r.(?)"	"p.(Arg323Trp)"	""
"0000548790"	"00010584"	"50"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Arg369Trp)"	""
"0000548791"	"00010584"	"30"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Arg369Trp)"	""
"0000548792"	"00010584"	"50"	"1106"	"0"	"1106"	"0"	"c.1106G>A"	"r.(?)"	"p.(Arg369Gln)"	""
"0000548793"	"00010584"	"50"	"1106"	"0"	"1106"	"0"	"c.1106G>T"	"r.(?)"	"p.(Arg369Leu)"	""
"0000548794"	"00010584"	"50"	"1107"	"0"	"1107"	"0"	"c.1107G>C"	"r.(?)"	"p.(Arg369=)"	""
"0000548795"	"00010584"	"30"	"1165"	"0"	"1165"	"0"	"c.1165C>T"	"r.(?)"	"p.(Leu389=)"	""
"0000548796"	"00010584"	"50"	"1258"	"0"	"1260"	"0"	"c.1258_1260del"	"r.(?)"	"p.(Glu420del)"	""
"0000548797"	"00010584"	"50"	"2153"	"0"	"2153"	"0"	"c.2153G>T"	"r.(?)"	"p.(Arg718Leu)"	""
"0000548798"	"00010584"	"30"	"2839"	"0"	"2839"	"0"	"c.2839A>G"	"r.(?)"	"p.(Thr947Ala)"	""
"0000548799"	"00010584"	"30"	"2992"	"12"	"2992"	"12"	"c.2992+12dup"	"r.(=)"	"p.(=)"	""
"0000595591"	"00010584"	"70"	"2755"	"1"	"2755"	"1"	"c.2755+1G>T"	"r.spl"	"p.?"	""
"0000614321"	"00010584"	"50"	"52"	"0"	"52"	"0"	"c.52C>T"	"r.(?)"	"p.(Pro18Ser)"	""
"0000614322"	"00010584"	"50"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Leu230Pro)"	""
"0000614323"	"00010584"	"10"	"1293"	"9"	"1293"	"9"	"c.1293+9G>A"	"r.(=)"	"p.(=)"	""
"0000614324"	"00010584"	"50"	"2037"	"0"	"2037"	"0"	"c.2037A>C"	"r.(?)"	"p.(Glu679Asp)"	""
"0000614325"	"00010584"	"10"	"2418"	"0"	"2418"	"0"	"c.2418G>A"	"r.(?)"	"p.(Thr806=)"	""
"0000622948"	"00010584"	"90"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.(?)"	"p.(Arg204Gln)"	""
"0000622949"	"00010584"	"30"	"1150"	"0"	"1150"	"0"	"c.1150G>C"	"r.(?)"	"p.(Gly384Arg)"	""
"0000622950"	"00010584"	"30"	"2272"	"0"	"2272"	"0"	"c.2272G>A"	"r.(?)"	"p.(Glu758Lys)"	""
"0000630882"	"00010584"	"90"	"1636"	"0"	"1636"	"0"	"c.1636C>T"	"r.(?)"	"p.(Arg546*)"	""
"0000648626"	"00010584"	"90"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.(?)"	"p.(Arg204Gln)"	""
"0000648627"	"00010584"	"50"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Arg369Trp)"	""
"0000648628"	"00010584"	"30"	"2957"	"0"	"2957"	"0"	"c.2957C>T"	"r.(?)"	"p.(Pro986Leu)"	""
"0000657164"	"00010584"	"50"	"-4231"	"0"	"-4231"	"0"	"c.-4231G>A"	"r.(?)"	"p.(=)"	""
"0000657165"	"00010584"	"50"	"1553"	"0"	"1553"	"0"	"c.1553A>T"	"r.(?)"	"p.(Glu518Val)"	""
"0000657166"	"00010584"	"50"	"1702"	"0"	"1702"	"0"	"c.1702G>A"	"r.(?)"	"p.(Gly568Arg)"	""
"0000657167"	"00010584"	"30"	"2418"	"0"	"2418"	"0"	"c.2418G>A"	"r.(?)"	"p.(Thr806=)"	""
"0000657168"	"00010584"	"50"	"3020"	"3"	"3020"	"3"	"c.3020+3A>G"	"r.spl?"	"p.?"	""
"0000679608"	"00010584"	"70"	"263"	"0"	"263"	"0"	"c.263C>T"	"r.(?)"	"p.(Thr88Ile)"	""
"0000679609"	"00010584"	"30"	"471"	"0"	"471"	"0"	"c.471C>T"	"r.(?)"	"p.(His157=)"	""
"0000679610"	"00010584"	"50"	"1569"	"5"	"1569"	"5"	"c.1569+5G>A"	"r.spl?"	"p.?"	""
"0000691398"	"00010584"	"70"	"1378"	"0"	"1378"	"0"	"c.1378C>T"	"r.(?)"	"p.(Arg460Ter)"	""
"0000691399"	"00010584"	"50"	"1569"	"5"	"1569"	"5"	"c.1569+5G>A"	"r.spl?"	"p.?"	""
"0000709027"	"00010584"	"70"	"292"	"-8"	"300"	"0"	"c.292-8_300del"	"r.spl"	"p.?"	""
"0000712150"	"00010584"	"50"	"1033"	"0"	"1033"	"0"	"c.1033A>G"	"r.(?)"	"p.(Lys345Glu)"	""
"0000724163"	"00010584"	"30"	"18"	"0"	"18"	"0"	"c.18C>T"	"r.(?)"	"p.(Asn6=)"	""
"0000724164"	"00010584"	"50"	"260"	"0"	"260"	"0"	"c.260A>G"	"r.(?)"	"p.(Gln87Arg)"	""
"0000724165"	"00010584"	"30"	"1164"	"0"	"1164"	"0"	"c.1164C>A"	"r.(?)"	"p.(Ala388=)"	""
"0000724166"	"00010584"	"30"	"1293"	"9"	"1293"	"9"	"c.1293+9G>A"	"r.(=)"	"p.(=)"	""
"0000724167"	"00010584"	"30"	"1293"	"9"	"1293"	"9"	"c.1293+9G>A"	"r.(=)"	"p.(=)"	""
"0000724168"	"00010584"	"30"	"2199"	"-4"	"2199"	"-4"	"c.2199-4G>A"	"r.spl?"	"p.?"	""
"0000731365"	"00010584"	"90"	"96"	"0"	"97"	"0"	"c.96_97del"	"r.(?)"	"p.(Ile33Phefs*17)"	""
"0000805877"	"00010584"	"50"	"768"	"0"	"768"	"0"	"c.768C>A"	"r.(?)"	"p.(Asn256Lys)"	""
"0000805878"	"00010584"	"90"	"1329"	"0"	"1329"	"0"	"c.1329dup"	"r.(?)"	"p.(Lys444Glufs*38)"	""
"0000805879"	"00010584"	"30"	"2040"	"0"	"2040"	"0"	"c.2040G>A"	"r.(?)"	"p.(Val680=)"	""
"0000805880"	"00010584"	"50"	"2452"	"0"	"2452"	"0"	"c.2452G>A"	"r.(?)"	"p.(Glu818Lys)"	""
"0000832575"	"00010584"	"90"	"2868"	"0"	"2870"	"0"	"c.2868_2870del"	"r.(?)"	"p.(Leu957del)"	""
"0000853471"	"00010584"	"50"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.(?)"	"p.(Ala324Thr)"	""
"0000853472"	"00010584"	"50"	"2123"	"0"	"2123"	"0"	"c.2123A>G"	"r.(?)"	"p.(Glu708Gly)"	""
"0000853473"	"00010584"	"30"	"2272"	"0"	"2272"	"0"	"c.2272G>A"	"r.(?)"	"p.(Glu758Lys)"	""
"0000863081"	"00010584"	"50"	"52"	"0"	"52"	"0"	"c.52C>T"	"r.(?)"	"p.(Pro18Ser)"	""
"0000863083"	"00010584"	"50"	"291"	"5"	"291"	"5"	"c.291+5G>A"	"r.spl?"	"p.?"	""
"0000863084"	"00010584"	"30"	"1389"	"0"	"1389"	"0"	"c.1389C>T"	"r.(?)"	"p.(Asn463=)"	""
"0000863085"	"00010584"	"30"	"2271"	"0"	"2271"	"0"	"c.2271C>T"	"r.(?)"	"p.(His757=)"	""
"0000863086"	"00010584"	"50"	"2314"	"0"	"2314"	"0"	"c.2314C>T"	"r.(?)"	"p.(Arg772*)"	""
"0000869047"	"00010584"	"70"	"967"	"0"	"967"	"0"	"c.967C>T"	"r.(?)"	"p.(Arg323Trp)"	""
"0000890709"	"00010584"	"30"	"1389"	"0"	"1389"	"0"	"c.1389C>T"	"r.(?)"	"p.(Asn463=)"	""
"0000890710"	"00010584"	"30"	"1906"	"-3"	"1906"	"-3"	"c.1906-3C>T"	"r.spl?"	"p.?"	""
"0000890711"	"00010584"	"30"	"2247"	"0"	"2247"	"0"	"c.2247C>T"	"r.(?)"	"p.(Tyr749=)"	""
"0000890712"	"00010584"	"30"	"2272"	"0"	"2272"	"0"	"c.2272G>A"	"r.(?)"	"p.(Glu758Lys)"	""
"0000890713"	"00010584"	"50"	"2990"	"0"	"2990"	"0"	"c.2990A>T"	"r.(?)"	"p.(Asn997Ile)"	""
"0000913918"	"00010584"	"10"	"396"	"14"	"396"	"14"	"c.396+14G>A"	"r.(=)"	"p.(=)"	""
"0000913919"	"00010584"	"10"	"714"	"8"	"714"	"8"	"c.714+8G>A"	"r.(=)"	"p.(=)"	""
"0000919457"	"00010584"	"50"	"2644"	"0"	"2644"	"0"	"c.2644G>A"	"r.(?)"	"p.(Ala882Thr)"	""
"0000925670"	"00010584"	"90"	"1475"	"0"	"1478"	"0"	"c.1475_1478del"	"r.(?)"	"p.(Glu492Glyfs*4)"	""
"0000925671"	"00010584"	"30"	"2992"	"12"	"2992"	"12"	"c.2992+12dup"	"r.(=)"	"p.(=)"	""
"0000953803"	"00010584"	"70"	"1630"	"0"	"1630"	"0"	"c.1630C>T"	"r.(?)"	"p.(Arg544*)"	"15"
"0000953804"	"00010584"	"50"	"1022"	"0"	"1022"	"0"	"c.1022A>G"	"r.(?)"	"p.(Gln341Arg)"	"11"
"0000967017"	"00010584"	"30"	"152"	"0"	"152"	"0"	"c.152G>A"	"r.(?)"	"p.(Arg51His)"	""
"0000967018"	"00010584"	"70"	"751"	"0"	"751"	"0"	"c.751G>A"	"r.(?)"	"p.(Glu251Lys)"	""
"0000980399"	"00010584"	"50"	"287"	"0"	"287"	"0"	"c.287T>G"	"r.(?)"	"p.(Met96Arg)"	""
"0000980400"	"00010584"	"50"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.(?)"	"p.(Arg111*)"	""
"0000980401"	"00010584"	"50"	"434"	"0"	"434"	"0"	"c.434A>T"	"r.(?)"	"p.(Asp145Val)"	""
"0000980402"	"00010584"	"50"	"2162"	"0"	"2162"	"0"	"c.2162T>G"	"r.(?)"	"p.(Ile721Ser)"	""
"0000980403"	"00010584"	"10"	"2199"	"-4"	"2199"	"-4"	"c.2199-4G>A"	"r.spl?"	"p.?"	""
"0001000259"	"00010584"	"50"	"970"	"0"	"970"	"0"	"c.970G>A"	"r.(?)"	"p.(Ala324Thr)"	""
"0001000260"	"00010584"	"50"	"1363"	"0"	"1363"	"0"	"c.1363C>T"	"r.(?)"	"p.(=)"	""
"0001000261"	"00010584"	"50"	"2162"	"0"	"2162"	"0"	"c.2162T>G"	"r.(?)"	"p.(Ile721Ser)"	""
"0001000262"	"00010584"	"50"	"2281"	"0"	"2281"	"0"	"c.2281A>G"	"r.(?)"	"p.(Thr761Ala)"	""
"0001015005"	"00010584"	"10"	"396"	"14"	"396"	"14"	"c.396+14G>A"	"r.(=)"	"p.(=)"	""
"0001015006"	"00010584"	"30"	"1150"	"0"	"1150"	"0"	"c.1150G>C"	"r.(?)"	"p.(Gly384Arg)"	""
"0001015007"	"00010584"	"10"	"1176"	"0"	"1176"	"0"	"c.1176G>A"	"r.(?)"	"p.(=)"	""
"0001015008"	"00010584"	"30"	"1264"	"0"	"1264"	"0"	"c.1264C>T"	"r.(?)"	"p.(Arg422Cys)"	""
"0001015009"	"00010584"	"50"	"1553"	"0"	"1553"	"0"	"c.1553A>T"	"r.(?)"	"p.(Glu518Val)"	""
"0001026220"	"00010584"	"30"	"1926"	"0"	"1926"	"0"	"c.1926G>A"	"r.(?)"	"p.(=)"	""
"0001039393"	"00010584"	"50"	"332"	"0"	"332"	"0"	"c.332G>C"	"r.(?)"	"p.(Arg111Pro)"	""
"0001039394"	"00010584"	"50"	"1402"	"0"	"1402"	"0"	"c.1402C>T"	"r.(?)"	"p.(Arg468Trp)"	""
"0001039395"	"00010584"	"30"	"1717"	"-283"	"1717"	"-283"	"c.1717-283T>C"	"r.(=)"	"p.(=)"	""
"0001054383"	"00010584"	"50"	"94"	"0"	"94"	"0"	"c.94C>A"	"r.(?)"	"p.(Pro32Thr)"	""
"0001054384"	"00010584"	"50"	"291"	"5"	"291"	"5"	"c.291+5G>A"	"r.spl?"	"p.?"	""
"0001054385"	"00010584"	"30"	"2672"	"0"	"2672"	"0"	"c.2672G>A"	"r.(?)"	"p.(Arg891His)"	""
"0001058828"	"00010584"	"90"	"611"	"0"	"611"	"0"	"c.611G>A"	"r.(?)"	"p.(Arg204Gln)"	""
"0001068968"	"00010584"	"70"	"696"	"0"	"696"	"0"	"c.696C>G"	"r.(?)"	"p.(Asp232Glu)"	"8"
"0001069235"	"00010584"	"50"	"1362"	"4"	"1362"	"4"	"c.1362+4A>G"	"r.spl"	"p.?"	""
"0001069303"	"00010584"	"50"	"768"	"0"	"770"	"0"	"c.768_770del"	"r.(?)"	"p.(Asn256del)"	""
"0001069360"	"00010584"	"70"	"3020"	"1"	"3020"	"1"	"c.3020+1G>A"	"r.spl"	"p.?"	""
"0001069468"	"00010584"	"50"	"2993"	"0"	"2993"	"0"	"c.2993G>T"	"r.(?)"	"p.(Gly998Val)"	""
"0001070123"	"00010584"	"50"	"2005"	"0"	"2005"	"0"	"c.2005G>A"	"r.(?)"	"p.(Ala669Thr)"	""
"0001073177"	"00010584"	"90"	"704"	"0"	"704"	"0"	"c.704G>A"	"r.(?)"	"p.(Gly235Glu)"	"8"
"0001073178"	"00010584"	"90"	"1339"	"0"	"1339"	"0"	"c.1339C>T"	"r.(?)"	"p.(Gln447Ter)"	"13"
"0001073566"	"00010584"	"90"	"725"	"0"	"725"	"0"	"c.725C>A"	"r.(?)"	"p.(Thr242Asn)"	"9"
"0001073567"	"00010584"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"10"
"0001073568"	"00010584"	"90"	"691"	"0"	"691"	"0"	"c.691G>A"	"r.(?)"	"p.(Val231Met)"	"8"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 36
"{{screeningid}}"	"{{variantid}}"
"0000002915"	"0000021289"
"0000002916"	"0000021290"
"0000002917"	"0000021291"
"0000039591"	"0000067192"
"0000039592"	"0000067193"
"0000133797"	"0000223225"
"0000155824"	"0000356905"
"0000220071"	"0000454964"
"0000229030"	"0000470172"
"0000231751"	"0000473832"
"0000246995"	"0000499835"
"0000265012"	"0000595591"
"0000276749"	"0000630882"
"0000291937"	"0000648626"
"0000291938"	"0000648627"
"0000291939"	"0000648628"
"0000325872"	"0000709027"
"0000328218"	"0000712150"
"0000333645"	"0000731365"
"0000399909"	"0000832575"
"0000411810"	"0000869047"
"0000433814"	"0000919457"
"0000445660"	"0000953803"
"0000445661"	"0000953804"
"0000470706"	"0001058828"
"0000474572"	"0001068968"
"0000474641"	"0001070123"
"0000474837"	"0001069235"
"0000474905"	"0001069303"
"0000474962"	"0001069360"
"0000475071"	"0001069468"
"0000477790"	"0001073177"
"0000477791"	"0001073178"
"0000478179"	"0001073566"
"0000478180"	"0001073567"
"0000478181"	"0001073568"