### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF1C) # 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}}" "KIF1C" "kinesin family member 1C" "17" "p13.2" "unknown" "NC_000017.10" "UD_132438481952" "" "http://www.LOVD.nl/KIF1C" "" "1" "6317" "10749" "603060" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KIF1C_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-09-27 09:13:35" "00000" "2025-07-08 13:22:38" ## 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}}" "00010575" "KIF1C" "kinesin family member 1C" "001" "NM_006612.5" "" "NP_006603.2" "" "" "" "-357" "7560" "3312" "4901243" "4931694" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01972" "neuropathy (CCT5)" "neuropathy, sensory, with spastic paraplegia, hereditary, autosomal recessive" "AR" "256840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03020" "SPAX2;SPG58" "ataxia, spastic, type 2, autosomal dominant (SPAX-2, spastic paraplegia (SPG-58))" "AR" "611302" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIF1C" "03020" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00095132" "" "" "" "4" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents, patient 789IV-1" "F" "yes" "" "" "0" "added by student Anneliz de Leeuw" "" "" "" "00095133" "" "" "00095132" "1" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "brother of 789IV-1" "M" "yes" "" "" "0" "added by student Anneliz de Leeuw" "" "" "" "00095134" "" "" "" "2" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "4-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents, patient 803IV-1" "F" "yes" "" "" "0" "added by student Rachel van Loo" "" "" "" "00095135" "" "" "00095134" "1" "" "00006" "{PMID: Gaia Novarino 2014: 24482476}" "sister of 803IV-1" "F" "yes" "" "" "0" "added by student Rachel van Loo" "" "" "" "00095147" "" "" "" "4" "" "00006" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "5-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier parents" "F;M" "yes" "" "" "0" "" "" "" "" "00144672" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00164422" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00291790" "" "" "" "171" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291791" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291792" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304591" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00411970" "" "" "" "11" "" "00006" "{PMID:Wu 2012:22801503}" "3-generation family, 11 affected" "" "" "" "" "0" "" "" "Jew-Sephardic" "Fam2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00095132" "01972" "00095133" "01972" "00095134" "03020" "00095135" "03020" "00095147" "00198" "00144672" "00198" "00164422" "00198" "00291790" "00198" "00291791" "00198" "00291792" "00198" "00304591" "00198" "00411970" "04255" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01972, 03020, 04255 ## Count = 8 "{{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}}" "0000073527" "01972" "00095132" "00006" "Familial, autosomal recessive" "" "Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann\'s sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), No spinal abnormalities (-HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668), Ptosis (HP:0000508)" "04y" "" "" "" "" "" "" "" "" "" "" "0000073528" "01972" "00095133" "00006" "Familial, autosomal recessive" "" "Spasticity (HP:0001257), Dysarthria (HP:0001260), Chorea (HP:0002072), Myoclonus (HP:0001336), Ataxia (HP:0001251), Increased deep tendon reflexes (HP:0001347), Unknown Hoffmann\'s sign (?HP:0003487), Plantar reflex (HP:0002487), Motor deficit (HP:0002333), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), Normal vibration sense at ankles (-HP:0006938), No objective sensory loss (-HP:0010835), No skeletal deformities (-HP:0000924), No sphincter disturbances (-HP:0002839), White matter abnormalities (HP:0002500), Unknown spinal abnormalities (?HP:0002143), Delayed intellectual development (HP:0001263), Hypodontia (HP:0000668)" "03y" "" "" "" "" "" "" "" "" "" "" "0000073529" "03020" "00095134" "00006" "Familial, autosomal recessive" "" "Short stature (HP:0004322), Decreased head circumference (HP:0040195), Intention tremor (HP:0002080), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Poor fine motor coordination (HP:0007010), Spasticity (HP:0001257), Toe walking (HP:0040083), Dysarthria (HP:0001260), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474)" "02y06m" "" "" "" "" "" "" "" "" "" "" "0000073530" "03020" "00095135" "00006" "Familial, autosomal recessive" "" "Short stature (HP:0004322), Decreased head circumference (HP:0040195), Lower limb hyperreflexia (HP:0002395), Clonus (HP:0002169), Unsteady gate (HP:0002317), Dysarthria (HP:0001260), Toe walking (HP:0040083), Spasticity (HP:0001257), No amyotrophy (-HP:0003202), No fasciculations (-HP:0002380), No abnormality of skeletal morphology (-HP:0011842), No sphincter disturbances (-HP:0002839), No decreased Vibration sense at ankles (-HP:0006938), No white matter abnormalities (-HP:0002500), No abnormality of the spinal cord (-HP:0002143), No intellectual disability (-HP:0001249), No sensory impairment (-HP:0003474)" "02y06m" "" "" "" "" "" "" "" "" "" "" "0000073544" "00198" "00095147" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000117408" "00198" "00144672" "01807" "Unknown" "" "HP:0001258 (Spastic paraplegia)" "" "" "" "" "" "" "" "" "" "" "" "0000129481" "00198" "00164422" "01807" "Unknown" "" "Spastic ataxia (HP:0002497); Limb ataxia (HP:0002070); Head tremor (HP:0002346)" "" "" "" "" "" "" "" "" "" "" "" "0000303997" "04255" "00411970" "00006" "Familial, autosomal dominant" "" "see paper; ..., limb onset (no bulbar onset)" "" "" "" "" "" "" "" "" "ALS18" "amyotrophic lateral sclerosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095530" "00095132" "1" "00006" "00006" "2016-09-22 13:17:38" "" "" "arraySNP;SEQ-NG-I;SEQ-NG-R;PCR;RT-PCR;Western" "DNA" "Blood" "" "0000095531" "00095133" "1" "00006" "00006" "2016-09-22 13:56:36" "" "" "arraySNP;SEQ-NG-I;SEQ-NG-R;PCR;RT-PCR;Western" "DNA" "Blood" "" "0000095532" "00095134" "1" "00006" "00006" "2016-09-23 20:10:09" "" "" "SEQ" "DNA" "" "" "0000095533" "00095135" "1" "00006" "00006" "2016-09-23 20:21:19" "" "" "SEQ" "DNA" "" "" "0000095545" "00095147" "1" "00006" "00006" "2017-01-06 15:46:39" "" "" "arrayCNV" "DNA" "" "" "0000145529" "00144672" "0" "01807" "01807" "2017-12-21 13:08:44" "" "" "SEQ" "DNA" "" "" "0000165289" "00164422" "1" "01807" "01807" "2018-05-17 16:06:52" "" "" "SEQ" "DNA" "" "" "0000292958" "00291790" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292959" "00291791" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292960" "00291792" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305720" "00304591" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000413242" "00411970" "1" "00006" "00006" "2022-06-20 15:39:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000095530" "KIF1C" "0000095531" "KIF1C" "0000095532" "KIF1C" "0000095533" "KIF1C" "0000095545" "KIF1C" ## 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 = 85 "{{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}}" "0000154099" "3" "90" "17" "4904143" "4904143" "subst" "0" "00006" "KIF1C_000002" "g.4904143G>A" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "effect on RNA splicing shown schematically, effect not observed in heterozygous carriers" "Germline" "yes" "" "0" "" "" "g.5000848G>A" "" "pathogenic" "" "0000154100" "3" "90" "17" "4904143" "4904143" "subst" "0" "00006" "KIF1C_000002" "g.4904143G>A" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "effect on RNA splicing shown schematically, effect not observed in heterozygous carriers" "Germline" "yes" "" "0" "" "" "g.5000848G>A" "" "pathogenic" "" "0000154101" "3" "90" "17" "4925567" "4925567" "subst" "0" "00006" "KIF1C_000001" "g.4925567C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "C2191T (R731X)" "" "Germline" "yes" "" "0" "" "" "g.5022272C>T" "" "pathogenic" "" "0000154102" "3" "90" "17" "4925567" "4925567" "subst" "0" "00006" "KIF1C_000001" "g.4925567C>T" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "C2191T (R731X)" "" "Germline" "yes" "" "0" "" "" "g.5022272C>T" "" "pathogenic" "" "0000154115" "3" "90" "17" "" "" "" "" "00006" "KIF1C_000003" "g.(4908296_4910209(_(4918133_4923290)del" "" "{PMID:Novarino 2014:24482476}, {DOI:Novarino 2014:10.1126/science.1247363}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000237903" "0" "70" "17" "4903544" "4903544" "subst" "0" "01807" "KIF1C_000004" "g.4903544G>T" "" "" "" "Met1?" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5000249G>T" "" "likely pathogenic" "" "0000237904" "0" "70" "17" "4910381" "4910384" "del" "0" "01807" "KIF1C_000005" "g.4910381_4910384del" "" "" "" "1335+2_1335+5delTGGG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5007086_5007089del" "" "likely pathogenic" "" "0000256487" "0" "50" "17" "4906919" "4906919" "subst" "0" "01943" "KIF1C_000009" "g.4906919A>G" "" "" "" "KIF1C(NM_006612.5):c.733A>G (p.S245G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5003624A>G" "" "VUS" "" "0000290296" "0" "50" "17" "4908241" "4908241" "subst" "0.00341528" "01943" "KIF1C_000010" "g.4908241G>A" "" "" "" "KIF1C(NM_006612.5):c.1111G>A (p.A371T), KIF1C(NM_006612.6):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5004946G>A" "" "VUS" "" "0000290297" "0" "10" "17" "4910202" "4910202" "subst" "0.00251694" "01943" "KIF1C_000011" "g.4910202C>T" "" "" "" "KIF1C(NM_006612.5):c.1166-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5006907C>T" "" "benign" "" "0000290298" "0" "30" "17" "4910319" "4910319" "subst" "0.000810541" "01943" "KIF1C_000012" "g.4910319G>A" "" "" "" "KIF1C(NM_006612.5):c.1275G>A (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5007024G>A" "" "likely benign" "" "0000290299" "0" "30" "17" "4910336" "4910336" "subst" "0.000125596" "01943" "KIF1C_000013" "g.4910336C>T" "" "" "" "KIF1C(NM_006612.5):c.1292C>T (p.T431M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5007041C>T" "" "likely benign" "" "0000290300" "0" "30" "17" "4925475" "4925475" "subst" "0.00285367" "01943" "KIF1C_000014" "g.4925475C>T" "" "" "" "KIF1C(NM_006612.5):c.2099C>T (p.P700L), KIF1C(NM_006612.6):c.2099C>T (p.P700L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022180C>T" "" "likely benign" "" "0000290301" "0" "50" "17" "4925675" "4925675" "subst" "0.00143763" "01943" "KIF1C_000015" "g.4925675G>A" "" "" "" "KIF1C(NM_006612.5):c.2299G>A (p.G767R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022380G>A" "" "VUS" "" "0000290302" "0" "30" "17" "4925701" "4925701" "subst" "0.000964258" "01943" "KIF1C_000016" "g.4925701C>T" "" "" "" "KIF1C(NM_006612.5):c.2325C>T (p.A775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022406C>T" "" "likely benign" "" "0000290303" "0" "30" "17" "4925954" "4925954" "subst" "0.000490452" "01943" "KIF1C_000017" "g.4925954G>A" "" "" "" "KIF1C(NM_006612.5):c.2578G>A (p.A860T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022659G>A" "" "likely benign" "" "0000290304" "0" "30" "17" "4925995" "4925995" "subst" "0" "01943" "KIF1C_000018" "g.4925995C>T" "" "" "" "KIF1C(NM_006612.5):c.2619C>T (p.P873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5022700C>T" "" "likely benign" "" "0000290305" "0" "50" "17" "4927045" "4927045" "subst" "0" "01943" "KIF1C_000019" "g.4927045C>T" "" "" "" "KIF1C(NM_006612.5):c.2911C>T (p.P971S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023750C>T" "" "VUS" "" "0000290306" "0" "30" "17" "4927205" "4927205" "subst" "0.00184811" "01943" "KIF1C_000020" "g.4927205G>A" "" "" "" "KIF1C(NM_006612.5):c.3071G>A (p.R1024Q), KIF1C(NM_006612.6):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023910G>A" "" "likely benign" "" "0000290307" "0" "30" "17" "4927247" "4927247" "subst" "0" "01943" "KIF1C_000021" "g.4927247G>A" "" "" "" "KIF1C(NM_006612.5):c.3113G>A (p.G1038D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023952G>A" "" "likely benign" "" "0000290308" "0" "30" "17" "4904701" "4904701" "subst" "3.68002E-5" "01943" "KIF1C_000006" "g.4904701G>A" "" "" "" "KIF1C(NM_006612.5):c.363+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5001406G>A" "" "likely benign" "" "0000290309" "0" "50" "17" "4905817" "4905817" "subst" "1.21904E-5" "01943" "KIF1C_000007" "g.4905817G>A" "" "" "" "KIF1C(NM_006612.5):c.488G>A (p.R163Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5002522G>A" "" "VUS" "" "0000290310" "0" "50" "17" "4906918" "4906918" "subst" "0.000457236" "01943" "KIF1C_000008" "g.4906918C>G" "" "" "" "KIF1C(NM_006612.5):c.732C>G (p.I244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5003623C>G" "" "VUS" "" "0000342258" "0" "50" "17" "4906063" "4906063" "subst" "0" "02327" "KIF1C_000022" "g.4906063C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5002768C>T" "" "VUS" "" "0000348615" "0" "10" "17" "4926882" "4926882" "subst" "0.71772" "02327" "KIF1C_000024" "g.4926882A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5023587A>G" "" "benign" "" "0000351250" "0" "90" "17" "4918036" "4918036" "subst" "0" "02327" "KIF1C_000023" "g.4918036A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5014741A>G" "" "pathogenic" "" "0000368947" "0" "70" "17" "4908179" "4908182" "del" "0" "01807" "KIF1C_000026" "g.4908179_4908182del" "" "" "" "1049_1052delGCAA" "" "Unknown" "" "" "0" "" "" "g.5004884_5004887del" "" "likely pathogenic" "" "0000368948" "0" "70" "17" "4907370" "4907370" "subst" "0" "01807" "KIF1C_000025" "g.4907370T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.5004075T>G" "" "likely pathogenic" "" "0000562285" "0" "90" "17" "4901453" "4901453" "subst" "0" "01943" "INCA1_000001" "g.4901453T>G" "" "" "" "KIF1C(NM_006612.5):c.-149+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4998158T>G" "" "pathogenic" "" "0000562286" "0" "30" "17" "4903559" "4903559" "subst" "0.000327897" "01943" "INCA1_000002" "g.4903559G>A" "" "" "" "KIF1C(NM_006612.5):c.18G>A (p.V6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5000264G>A" "" "likely benign" "" "0000562287" "0" "30" "17" "4904509" "4904509" "subst" "0.00063974" "01943" "INCA1_000003" "g.4904509T>C" "" "" "" "KIF1C(NM_006612.5):c.184-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5001214T>C" "" "likely benign" "" "0000562288" "0" "50" "17" "4904556" "4904556" "subst" "8.12334E-6" "01943" "INCA1_000004" "g.4904556C>T" "" "" "" "KIF1C(NM_006612.5):c.223C>T (p.R75W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5001261C>T" "" "VUS" "" "0000562289" "0" "50" "17" "4907294" "4907294" "subst" "0.00110043" "01943" "KIF1C_000027" "g.4907294A>C" "" "" "" "KIF1C(NM_006612.5):c.866A>C (p.Q289P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5003999A>C" "" "VUS" "" "0000562290" "0" "50" "17" "4908266" "4908266" "subst" "0.00043455" "01943" "KIF1C_000028" "g.4908266C>G" "" "" "" "KIF1C(NM_006612.5):c.1136C>G (p.A379G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5004971C>G" "" "VUS" "" "0000562291" "0" "30" "17" "4910548" "4910548" "subst" "0.000627116" "01943" "KIF1C_000029" "g.4910548A>T" "" "" "" "KIF1C(NM_006612.5):c.1336-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5007253A>T" "" "likely benign" "" "0000562292" "0" "50" "17" "4910568" "4910568" "subst" "8.86166E-5" "01943" "KIF1C_000030" "g.4910568A>G" "" "" "" "KIF1C(NM_006612.5):c.1346A>G (p.K449R), KIF1C(NM_006612.6):c.1346A>G (p.K449R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5007273A>G" "" "VUS" "" "0000562293" "0" "30" "17" "4918035" "4918035" "subst" "0.000253459" "01943" "KIF1C_000031" "g.4918035C>T" "" "" "" "KIF1C(NM_006612.5):c.1572-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5014740C>T" "" "likely benign" "" "0000562295" "0" "30" "17" "4923780" "4923780" "subst" "0.00694543" "01943" "KIF1C_000033" "g.4923780T>A" "" "" "" "KIF1C(NM_006612.5):c.1751-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5020485T>A" "" "likely benign" "" "0000562296" "0" "50" "17" "4924127" "4924127" "subst" "0" "01943" "KIF1C_000034" "g.4924127G>A" "" "" "" "KIF1C(NM_006612.5):c.1964G>A (p.R655Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5020832G>A" "" "VUS" "" "0000562298" "0" "10" "17" "4926780" "4926780" "subst" "0.000936707" "01943" "KIF1C_000035" "g.4926780T>C" "" "" "" "KIF1C(NM_006612.5):c.2646T>C (p.N882=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023485T>C" "" "benign" "" "0000562299" "0" "50" "17" "4926868" "4926868" "subst" "0.00149424" "01943" "KIF1C_000036" "g.4926868C>T" "" "" "" "KIF1C(NM_006612.5):c.2734C>T (p.R912W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023573C>T" "" "VUS" "" "0000562300" "0" "50" "17" "4926883" "4926883" "subst" "6.57451E-5" "01943" "KIF1C_000037" "g.4926883C>A" "" "" "" "KIF1C(NM_006612.5):c.2749C>A (p.P917T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023588C>A" "" "VUS" "" "0000562301" "0" "50" "17" "4927049" "4927049" "subst" "0" "01943" "KIF1C_000038" "g.4927049C>T" "" "" "" "KIF1C(NM_006612.5):c.2915C>T (p.P972L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023754C>T" "" "VUS" "" "0000562302" "0" "50" "17" "4927054" "4927054" "subst" "8.38725E-5" "01943" "KIF1C_000039" "g.4927054G>A" "" "" "" "KIF1C(NM_006612.5):c.2920G>A (p.D974N), KIF1C(NM_006612.6):c.2920G>A (p.D974N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023759G>A" "" "VUS" "" "0000562303" "0" "30" "17" "4927139" "4927139" "subst" "0.00020126" "01943" "KIF1C_000040" "g.4927139C>T" "" "" "" "KIF1C(NM_006612.5):c.3005C>T (p.P1002L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023844C>T" "" "likely benign" "" "0000562304" "0" "30" "17" "4927205" "4927205" "subst" "0.00184811" "02325" "KIF1C_000020" "g.4927205G>A" "" "" "" "KIF1C(NM_006612.5):c.3071G>A (p.R1024Q), KIF1C(NM_006612.6):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023910G>A" "" "likely benign" "" "0000616690" "0" "30" "17" "4905750" "4905750" "subst" "0" "01943" "INCA1_000005" "g.4905750C>G" "" "" "" "KIF1C(NM_006612.5):c.430-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5002455C>G" "" "likely benign" "" "0000623717" "0" "30" "17" "4925857" "4925857" "subst" "0.000228447" "01943" "KIF1C_000041" "g.4925857G>A" "" "" "" "KIF1C(NM_006612.5):c.2481G>A (p.G827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022562G>A" "" "likely benign" "" "0000623718" "0" "30" "17" "4927262" "4927262" "subst" "0.000174777" "01943" "KIF1C_000042" "g.4927262C>T" "" "" "" "KIF1C(NM_006612.5):c.3128C>T (p.A1043V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5023967C>T" "" "likely benign" "" "0000649647" "1" "10" "17" "4904564" "4904564" "subst" "0.0857945" "03575" "KIF1C_000043" "g.4904564T>C" "171/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "171 heterozygous; {DB:CLININrs17707385}" "Germline" "" "rs17707385" "0" "" "" "g.5001269T>C" "" "benign" "" "0000649648" "1" "50" "17" "4925475" "4925475" "subst" "0.00285367" "03575" "KIF1C_000014" "g.4925475C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs148934699}" "Germline" "" "rs148934699" "0" "" "" "g.5022180C>T" "" "VUS" "" "0000649649" "1" "50" "17" "4926868" "4926868" "subst" "0.00149424" "03575" "KIF1C_000036" "g.4926868C>T" "2/2768 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs202232792}" "Germline" "" "rs202232792" "0" "" "" "g.5023573C>T" "" "VUS" "" "0000658190" "0" "30" "17" "4903273" "4903273" "subst" "0" "01943" "INCA1_000006" "g.4903273G>A" "" "" "" "KIF1C(NM_006612.5):c.-28+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4999978G>A" "" "likely benign" "" "0000658191" "0" "30" "17" "4910259" "4910259" "subst" "0" "01943" "KIF1C_000044" "g.4910259A>G" "" "" "" "KIF1C(NM_006612.5):c.1215A>G (p.S405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5006964A>G" "" "likely benign" "" "0000658192" "0" "50" "17" "4925846" "4925846" "subst" "0.000664702" "01943" "KIF1C_000045" "g.4925846G>A" "" "" "" "KIF1C(NM_006612.5):c.2470G>A (p.G824R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5022551G>A" "" "VUS" "" "0000669408" "3" "10" "17" "4904564" "4904564" "subst" "0.0857945" "03575" "KIF1C_000043" "g.4904564T>C" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs17707385}" "Germline" "" "rs17707385" "0" "" "" "g.5001269T>C" "" "benign" "" "0000680926" "0" "30" "17" "4908241" "4908241" "subst" "0.00341528" "02326" "KIF1C_000010" "g.4908241G>A" "" "" "" "KIF1C(NM_006612.5):c.1111G>A (p.A371T), KIF1C(NM_006612.6):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692400" "0" "30" "17" "4926994" "4926994" "subst" "0" "01943" "KIF1C_000046" "g.4926994G>A" "" "" "" "KIF1C(NM_006612.5):c.2860G>A (p.G954S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726513" "0" "70" "17" "4923327" "4923328" "del" "0" "02329" "KIF1C_000032" "g.4923327_4923328del" "" "" "" "KIF1C(NM_006612.6):c.1703_1704delCA (p.T568Ifs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726514" "0" "50" "17" "4925877" "4925877" "subst" "0" "02327" "KIF1C_000047" "g.4925877G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726515" "0" "50" "17" "4927045" "4927045" "subst" "0" "02327" "KIF1C_000019" "g.4927045C>T" "" "" "" "KIF1C(NM_006612.5):c.2911C>T (p.P971S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808100" "0" "30" "17" "4904603" "4904603" "subst" "0.000198983" "01943" "INCA1_000007" "g.4904603C>T" "" "" "" "KIF1C(NM_006612.5):c.270C>T (p.N90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808101" "0" "50" "17" "4907312" "4907312" "subst" "0.000389819" "01943" "KIF1C_000048" "g.4907312C>T" "" "" "" "KIF1C(NM_006612.5):c.884C>T (p.S295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808102" "0" "30" "17" "4908298" "4908298" "subst" "0.000203211" "01943" "KIF1C_000049" "g.4908298C>T" "" "" "" "KIF1C(NM_006612.5):c.1165+3C>T, KIF1C(NM_006612.6):c.1165+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808103" "0" "30" "17" "4908298" "4908298" "subst" "0.000203211" "02325" "KIF1C_000049" "g.4908298C>T" "" "" "" "KIF1C(NM_006612.5):c.1165+3C>T, KIF1C(NM_006612.6):c.1165+3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808104" "0" "30" "17" "4924146" "4924146" "subst" "0" "01943" "KIF1C_000050" "g.4924146C>T" "" "" "" "KIF1C(NM_006612.5):c.1983C>T (p.A661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808105" "0" "30" "17" "4925475" "4925475" "subst" "0.00285367" "02326" "KIF1C_000014" "g.4925475C>T" "" "" "" "KIF1C(NM_006612.5):c.2099C>T (p.P700L), KIF1C(NM_006612.6):c.2099C>T (p.P700L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808106" "0" "30" "17" "4925813" "4925813" "subst" "0" "01943" "KIF1C_000051" "g.4925813G>A" "" "" "" "KIF1C(NM_006612.5):c.2437G>A (p.G813S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808107" "0" "50" "17" "4927096" "4927096" "subst" "6.012E-6" "02325" "KIF1C_000052" "g.4927096C>T" "" "" "" "KIF1C(NM_006612.6):c.2962C>T (p.R988W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855001" "0" "30" "17" "4904700" "4904700" "subst" "2.86184E-5" "02325" "INCA1_000008" "g.4904700C>T" "" "" "" "KIF1C(NM_006612.6):c.363+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855002" "0" "50" "17" "4910568" "4910568" "subst" "8.86166E-5" "02329" "KIF1C_000030" "g.4910568A>G" "" "" "" "KIF1C(NM_006612.5):c.1346A>G (p.K449R), KIF1C(NM_006612.6):c.1346A>G (p.K449R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855003" "0" "50" "17" "4927054" "4927054" "subst" "8.38725E-5" "02329" "KIF1C_000039" "g.4927054G>A" "" "" "" "KIF1C(NM_006612.5):c.2920G>A (p.D974N), KIF1C(NM_006612.6):c.2920G>A (p.D974N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865365" "0" "30" "17" "4907313" "4907313" "subst" "0.00118977" "01943" "KIF1C_000053" "g.4907313G>A" "" "" "" "KIF1C(NM_006612.5):c.885G>A (p.S295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865366" "0" "50" "17" "4910793" "4910793" "subst" "2.83198E-5" "01943" "KIF1C_000054" "g.4910793G>A" "" "" "" "KIF1C(NM_006612.5):c.1447G>A (p.V483I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865367" "0" "30" "17" "4927205" "4927205" "subst" "0.00184811" "02326" "KIF1C_000020" "g.4927205G>A" "" "" "" "KIF1C(NM_006612.5):c.3071G>A (p.R1024Q), KIF1C(NM_006612.6):c.3071G>A (p.R1024Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000870700" "1" "50" "17" "4904685" "4904685" "subst" "0" "00006" "KIF1C_000055" "g.4904685A>Y" "" "{PMID:Wu 2012:22801503}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000894043" "0" "30" "17" "4904113" "4904113" "subst" "0.000609107" "02326" "INCA1_000009" "g.4904113C>T" "" "" "" "KIF1C(NM_006612.6):c.153C>T (p.T51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894044" "0" "10" "17" "4906156" "4906156" "subst" "0" "02326" "INCA1_000010" "g.4906156C>G" "" "" "" "KIF1C(NM_006612.6):c.720+19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894045" "0" "30" "17" "4923992" "4923992" "subst" "0.000812816" "02326" "KIF1C_000056" "g.4923992C>T" "" "" "" "KIF1C(NM_006612.6):c.1937+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914897" "0" "50" "17" "4927222" "4927222" "subst" "0.000115065" "02325" "KIF1C_000057" "g.4927222C>T" "" "" "" "KIF1C(NM_006612.6):c.3088C>T (p.R1030C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003421" "0" "50" "17" "4907156" "4907156" "subst" "4.06062E-6" "02325" "KIF1C_000058" "g.4907156A>G" "" "" "" "KIF1C(NM_006612.6):c.809A>G (p.N270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003423" "0" "30" "17" "4923380" "4923382" "del" "0" "02325" "KIF1C_000059" "g.4923380_4923382del" "" "" "" "KIF1C(NM_006612.6):c.1750+6_1750+8delAGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003427" "0" "30" "17" "4925481" "4925481" "subst" "0.00473445" "01804" "KIF1C_000060" "g.4925481C>T" "" "" "" "KIF1C(NM_006612.5):c.2105C>T (p.(Thr702Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041987" "0" "30" "17" "4906157" "4906157" "del" "0" "02326" "INCA1_000011" "g.4906157del" "" "" "" "KIF1C(NM_006612.6):c.720+20delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046649" "0" "50" "17" "4927215" "4927215" "subst" "0" "02325" "KIF1C_000061" "g.4927215C>A" "" "" "" "KIF1C(NM_006612.6):c.3081C>A (p.H1027Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KIF1C ## Count = 85 "{{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}}" "0000154099" "00010575" "90" "183" "0" "183" "0" "c.183G>A" "r.[183_184ins?, 107_183del]" "p.(Ser61=)" "4" "0000154100" "00010575" "90" "183" "0" "183" "0" "c.183G>A" "r.[183_184ins?, 107_183del]" "p.(Ser61=)" "4" "0000154101" "00010575" "90" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731*)" "22" "0000154102" "00010575" "90" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731*)" "22" "0000154115" "00010575" "90" "1166" "-1" "1666" "1" "c.(1165+1_1166-1)_(1666+1_1667-1)del" "r.?" "p.?" "13i_18i" "0000237903" "00010575" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.0?" "3" "0000237904" "00010575" "70" "1335" "2" "1335" "5" "c.1335+2_1335+5del" "r.spl" "p.?" "14i" "0000256487" "00010575" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Ser245Gly)" "" "0000290296" "00010575" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000290297" "00010575" "10" "1166" "-8" "1166" "-8" "c.1166-8C>T" "r.(=)" "p.(=)" "" "0000290298" "00010575" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Pro425=)" "" "0000290299" "00010575" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Thr431Met)" "" "0000290300" "00010575" "30" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000290301" "00010575" "50" "2299" "0" "2299" "0" "c.2299G>A" "r.(?)" "p.(Gly767Arg)" "" "0000290302" "00010575" "30" "2325" "0" "2325" "0" "c.2325C>T" "r.(?)" "p.(Ala775=)" "" "0000290303" "00010575" "30" "2578" "0" "2578" "0" "c.2578G>A" "r.(?)" "p.(Ala860Thr)" "" "0000290304" "00010575" "30" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Pro873=)" "" "0000290305" "00010575" "50" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Pro971Ser)" "" "0000290306" "00010575" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024Gln)" "" "0000290307" "00010575" "30" "3113" "0" "3113" "0" "c.3113G>A" "r.(?)" "p.(Gly1038Asp)" "" "0000290308" "00010575" "30" "363" "5" "363" "5" "c.363+5G>A" "r.spl?" "p.?" "" "0000290309" "00010575" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "" "0000290310" "00010575" "50" "732" "0" "732" "0" "c.732C>G" "r.(?)" "p.(Ile244Met)" "" "0000342258" "00010575" "50" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000348615" "00010575" "10" "2748" "0" "2748" "0" "c.2748A>G" "r.(?)" "p.(Pro916=)" "" "0000351250" "00010575" "90" "1572" "-2" "1572" "-2" "c.1572-2A>G" "r.spl?" "p.?" "" "0000368947" "00010575" "70" "1049" "0" "1052" "0" "c.1049_1052del" "r.(?)" "p.(Cys350Leufs*12)" "" "0000368948" "00010575" "70" "940" "2" "940" "2" "c.940+2T>G" "r.spl" "p.?" "" "0000562285" "00010575" "90" "-149" "2" "-149" "2" "c.-149+2T>G" "r.spl?" "p.?" "" "0000562286" "00010575" "30" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Val6=)" "" "0000562287" "00010575" "30" "184" "-8" "184" "-8" "c.184-8T>C" "r.(=)" "p.(=)" "" "0000562288" "00010575" "50" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Trp)" "" "0000562289" "00010575" "50" "866" "0" "866" "0" "c.866A>C" "r.(?)" "p.(Gln289Pro)" "" "0000562290" "00010575" "50" "1136" "0" "1136" "0" "c.1136C>G" "r.(?)" "p.(Ala379Gly)" "" "0000562291" "00010575" "30" "1336" "-10" "1336" "-10" "c.1336-10A>T" "r.(=)" "p.(=)" "" "0000562292" "00010575" "50" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Lys449Arg)" "" "0000562293" "00010575" "30" "1572" "-3" "1572" "-3" "c.1572-3C>T" "r.spl?" "p.?" "" "0000562295" "00010575" "30" "1751" "-7" "1751" "-7" "c.1751-7T>A" "r.(=)" "p.(=)" "" "0000562296" "00010575" "50" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655Gln)" "" "0000562298" "00010575" "10" "2646" "0" "2646" "0" "c.2646T>C" "r.(?)" "p.(Asn882=)" "" "0000562299" "00010575" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000562300" "00010575" "50" "2749" "0" "2749" "0" "c.2749C>A" "r.(?)" "p.(Pro917Thr)" "" "0000562301" "00010575" "50" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Pro972Leu)" "" "0000562302" "00010575" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Asp974Asn)" "" "0000562303" "00010575" "30" "3005" "0" "3005" "0" "c.3005C>T" "r.(?)" "p.(Pro1002Leu)" "" "0000562304" "00010575" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024Gln)" "" "0000616690" "00010575" "30" "430" "-9" "430" "-9" "c.430-9C>G" "r.(=)" "p.(=)" "" "0000623717" "00010575" "30" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(Gly827=)" "" "0000623718" "00010575" "30" "3128" "0" "3128" "0" "c.3128C>T" "r.(?)" "p.(Ala1043Val)" "" "0000649647" "00010575" "10" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "" "0000649648" "00010575" "50" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000649649" "00010575" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" "" "0000658190" "00010575" "30" "-28" "8" "-28" "8" "c.-28+8G>A" "r.(=)" "p.(=)" "" "0000658191" "00010575" "30" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ser405=)" "" "0000658192" "00010575" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Gly824Arg)" "" "0000669408" "00010575" "10" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "" "0000680926" "00010575" "30" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000692400" "00010575" "30" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Gly954Ser)" "" "0000726513" "00010575" "70" "1703" "0" "1704" "0" "c.1703_1704del" "r.(?)" "p.(Thr568IlefsTer18)" "" "0000726514" "00010575" "50" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Arg834Gln)" "" "0000726515" "00010575" "50" "2911" "0" "2911" "0" "c.2911C>T" "r.(?)" "p.(Pro971Ser)" "" "0000808100" "00010575" "30" "270" "0" "270" "0" "c.270C>T" "r.(?)" "p.(Asn90=)" "" "0000808101" "00010575" "50" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ser295Leu)" "" "0000808102" "00010575" "30" "1165" "3" "1165" "3" "c.1165+3C>T" "r.spl?" "p.?" "" "0000808103" "00010575" "30" "1165" "3" "1165" "3" "c.1165+3C>T" "r.spl?" "p.?" "" "0000808104" "00010575" "30" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Ala661=)" "" "0000808105" "00010575" "30" "2099" "0" "2099" "0" "c.2099C>T" "r.(?)" "p.(Pro700Leu)" "" "0000808106" "00010575" "30" "2437" "0" "2437" "0" "c.2437G>A" "r.(?)" "p.(Gly813Ser)" "" "0000808107" "00010575" "50" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Arg988Trp)" "" "0000855001" "00010575" "30" "363" "4" "363" "4" "c.363+4C>T" "r.spl?" "p.?" "" "0000855002" "00010575" "50" "1346" "0" "1346" "0" "c.1346A>G" "r.(?)" "p.(Lys449Arg)" "" "0000855003" "00010575" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Asp974Asn)" "" "0000865365" "00010575" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Ser295=)" "" "0000865366" "00010575" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Val483Ile)" "" "0000865367" "00010575" "30" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Arg1024Gln)" "" "0000870700" "00010575" "50" "352" "0" "352" "0" "c.352A>Y" "r.(?)" "p.(Ile118Leu)" "" "0000894043" "00010575" "30" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Thr51=)" "" "0000894044" "00010575" "10" "720" "19" "720" "19" "c.720+19C>G" "r.(=)" "p.(=)" "" "0000894045" "00010575" "30" "1937" "19" "1937" "19" "c.1937+19C>T" "r.(=)" "p.(=)" "" "0000914897" "00010575" "50" "3088" "0" "3088" "0" "c.3088C>T" "r.(?)" "p.(Arg1030Cys)" "" "0001003421" "00010575" "50" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Asn270Ser)" "" "0001003423" "00010575" "30" "1750" "6" "1750" "8" "c.1750+6_1750+8del" "r.(=)" "p.(=)" "" "0001003427" "00010575" "30" "2105" "0" "2105" "0" "c.2105C>T" "r.(?)" "p.(Thr702Ile)" "" "0001041987" "00010575" "30" "720" "20" "720" "20" "c.720+20del" "r.(=)" "p.(=)" "" "0001046649" "00010575" "50" "3081" "0" "3081" "0" "c.3081C>A" "r.(?)" "p.(His1027Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000095530" "0000154099" "0000095531" "0000154100" "0000095532" "0000154101" "0000095533" "0000154102" "0000095545" "0000154115" "0000145529" "0000237903" "0000145529" "0000237904" "0000165289" "0000368947" "0000165289" "0000368948" "0000292958" "0000649647" "0000292959" "0000649648" "0000292960" "0000649649" "0000305720" "0000669408" "0000413242" "0000870700"