### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBGCP6) # 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}}" "TUBGCP6" "tubulin, gamma complex associated protein 6" "22" "q13.31-q13.33" "unknown" "NG_032160.1" "UD_132463832606" "" "https://www.LOVD.nl/TUBGCP6" "" "1" "18127" "85378" "610053" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TUBGCP6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-26 21:42:49" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022146" "TUBGCP6" "tubulin, gamma complex associated protein 6" "001" "NM_020461.3" "" "NP_065194.2" "" "" "" "-512" "5507" "5460" "50683400" "50656118" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "01113" "MCCRP1" "microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1)" "AR" "251270" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "06885" "AMD" "dysplasia, acromesomelic" "" "" "" "" "" "00006" "2021-12-16 18:32:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TUBGCP6" "01113" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00017599" "" "" "" "1" "" "00006" "{PMID:Casey 2014:24824133}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "yes" "Ireland" "" "0" "" "" "Irish Traveller" "" "00050428" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00146561" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00274288" "" "" "" "2" "" "03383" "{PMID:Hull 2019:31077665}" "2 generation family, 2 affected" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "GC21023 Pt7" "00293155" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293156" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314891" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio72" "00374879" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0689" "00374880" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4323" "00383739" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "Family GC21033" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 7" "00383740" "" "" "" "1" "" "00000" "{PMID:Hull 2019:31077665}" "brother of Pt 7, Family GC21033" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pt 8" "00396709" "" "" "" "1" "" "00006" "{PMID:Díaz-Gonzalez 2021:33106379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "India" "" "0" "" "" "" "Pat2" "00408981" "" "" "" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "no patient number in publication, consecutive numbers given" "F" "" "" "" "0" "" "" "Old Order Amish and Mennonite" "10" "00422358" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "M" "" "" "" "0" "" "" "" "P10" "00422359" "" "" "" "1" "" "00000" "{PMID:Shurygina 2020:33137195}" "" "F" "" "" "" "0" "" "" "" "P11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00017599" "00332" "00050428" "00198" "00146561" "00198" "00274288" "00139" "00274288" "04240" "00293155" "00198" "00293156" "00198" "00314891" "00198" "00374879" "00198" "00374880" "00198" "00383739" "04214" "00383740" "04214" "00396709" "06885" "00408981" "01113" "00422358" "04214" "00422359" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00332, 01113, 04214, 04240, 06885 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015958" "00332" "00017599" "00006" "Isolated (sporadic)" "" "see paper; normal situs, EM revealed that, typically, both inner and outer dynein arms are absent" "" "" "" "" "" "" "" "" "" "" "" "0000037040" "00198" "00050428" "00006" "Isolated (sporadic)" "" "generalized hypotonia, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000119302" "00198" "00146561" "01807" "Unknown" "" "Microcephaly (HP:0000252); Abnormality of prenatal development or birth (HP:0001197)" "" "" "" "" "" "" "" "" "" "" "" "0000209230" "04240" "00274288" "03383" "Familial" "17y" "exudative vitreoretinopathy (HP:0030490), microcephaly (HP:0000252), rod-cone dystrophy (HP:0000510)" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "familial exudative vitreoretinopathy" "" "0000238649" "00198" "00314891" "00006" "Unknown" "8y" "Developmental delay, sleep disturbances, hypotonia, abnormal gait, chronic constipation, microcephaly, abnormal limb posturing, arachnodactyly, no true language skills, Angelman-like phenotype, no seizures, no regression." "14d" "" "" "" "" "" "" "" "" "" "" "0000270089" "00198" "00374879" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270090" "00198" "00374880" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000277524" "04214" "00383739" "00000" "Familial, autosomal recessive" "17y" "Loss of photoreceptors outside of fovea on OCT lack of peripheral vascularisation with fibrotic ridge. Rod-cone dysfunction Moderate learning difficulties" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000277525" "04214" "00383740" "00000" "Familial, autosomal recessive" "14y" "Lack of peripheral vascularisation on FFA with fibrotic ridge. Rod-cone dysfunction Moderate learning difficulties" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy associated with microcephaly" "" "0000289870" "06885" "00396709" "00006" "Familial, autosomal recessive" "07y" "see paper; ..., severe short stature; acromesomelia; mild bowed forearm; brachydactyly; hypoplasia hand phalanges; no hyperlordosis; no talipes equinovarus; toes short, broad, sandal gap; no nail aplasia/hypoplasia; triangular face, broad nasal bridge, pointed chin, synophrys, hypertelorism low set ears; hirsutism; radiology normal skull, anterior beaking vertebral bodies of thoracolumbar junction, mild acetabular irregularity, mesomelia, mildly bowed radius and ulna, relatively large epiphyses, metaphyseal irregularity, brachydactyly, advanced bone age, premature fusion epiphyses hands and knees" "" "" "" "" "" "" "" "" "AMD4" "acromesomelic dysplasia" "" "0000301099" "01113" "00408981" "00000" "Familial, autosomal recessive" "" "congenital pachygyric microcephaly; global developmental delay; chorioretinopathy and retinal detachment" "" "" "" "" "" "" "" "" "microcephaly and chorioretinopathy, autosomal recessive, type 1 (MCCRP-1)" "" "" "0000313572" "04214" "00422358" "00000" "Familial, autosomal recessive" "17y" "family history of retinal disease: sister; family history of microcephaly: sister; head circumference<1st percentile (45 cm at 12y); age at first visit (years): 2age at last visit (years): 17; follow up (years): 15; birth weight (kg): 2.89; intellectual disability: ; epilepsy: no; growth retardation: yes; lymphedema: no; additional symptoms: wide nose with broad nasal root, downslanting palpebral fissures, fifth finger clinodactyly, constipation, aggressive and self-injurious behaviors" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000313573" "04214" "00422359" "00000" "Familial, autosomal recessive" "24y" "family history of retinal disease: brother; family history of microcephaly: brother; head circumference<1st percentile (46.5 cm at 17y); age at first visit (years): 9age at last visit (years): 24; follow up (years): 15; birth weight (kg): 3.06; intellectual disability: ; epilepsy: no; growth retardation: yes; lymphedema: yes; additional symptoms: broad, depressed nasal bridge, mild micrognathia, upslanting palpebral fissures, high arched palate, bifid uvula, secondary amenorrhea, urinary incontinence, constipation, mild kyphosis and lordosis, multiple pigmented nevi, increased muscle tone, decreased strength" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000017582" "00017599" "1" "00006" "00006" "2014-06-20 23:46:41" "00006" "2014-06-21 21:46:02" "arraySNP;SEQ;SEQ-NG-I" "DNA" "" "" "0000050373" "00050428" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000147416" "00146561" "0" "01807" "01807" "2017-12-29 11:40:12" "" "" "SEQ" "DNA" "" "" "0000275446" "00274288" "1" "03383" "03383" "2019-12-27 21:33:36" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000294323" "00293155" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294324" "00293156" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316065" "00314891" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000376073" "00374879" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376074" "00374880" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000384964" "00383739" "1" "00000" "03840" "2021-09-29 12:36:52" "" "" "SEQ" "DNA" "blood" "candidate gene sequencing" "0000384965" "00383740" "1" "00000" "03840" "2021-09-29 12:36:52" "" "" "SEQ" "DNA" "blood" "candidate gene sequencing" "0000397952" "00396709" "1" "00006" "00006" "2021-12-16 19:13:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000410246" "00408981" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000423669" "00422358" "1" "00000" "03840" "2022-11-09 18:36:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" "0000423670" "00422359" "1" "00000" "03840" "2022-11-09 18:36:37" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next-generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000017582" "ADRA1D" "0000017582" "AGXT" "0000017582" "DYX1C1" "0000017582" "EIF3CL" "0000017582" "IRF5" "0000017582" "LPHN3" "0000017582" "MYO18B" "0000017582" "PTPRJ" "0000017582" "STARD9" "0000017582" "TUBGCP6" "0000316065" "GRIN1" "0000316065" "TUBGCP6" "0000376073" "TUBGCP6" "0000376074" "TUBGCP6" "0000384964" "TUBGCP6" "0000384965" "TUBGCP6" "0000410246" "TUBGCP6" "0000423669" "TUBGCP6" "0000423670" "TUBGCP6" ## 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 = 179 "{{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}}" "0000037591" "3" "50" "22" "50659598" "50659598" "subst" "0.020101" "00006" "TUBGCP6_000001" "g.50659598C>T" "" "{PMID:Casey 2014:24824133}" "" "" "" "Unknown" "" "" "0" "" "" "g.50221169C>T" "" "VUS" "" "0000079353" "0" "90" "22" "47182944" "51666786" "del" "0" "00006" "ALG12_000022" "g.47182944_51666786del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.56 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000240213" "3" "70" "22" "50658072" "50658072" "subst" "0" "01807" "TUBGCP6_000002" "g.50658072C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.50219643C>T" "" "likely pathogenic" "" "0000247701" "0" "10" "22" "50664612" "50664612" "subst" "0.781121" "02330" "TUBGCP6_000034" "g.50664612A>G" "" "" "" "TUBGCP6(NM_020461.4):c.1700T>C (p.L567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50226183A>G" "" "benign" "" "0000247702" "0" "10" "22" "50658053" "50658053" "subst" "0.964389" "02330" "TUBGCP6_000011" "g.50658053A>G" "" "" "" "TUBGCP6(NM_020461.4):c.4315+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219624A>G" "" "benign" "" "0000247706" "0" "10" "22" "50667859" "50667859" "subst" "0.0130423" "02330" "TUBGCP6_000038" "g.50667859A>G" "" "" "" "TUBGCP6(NM_020461.4):c.1264T>C (p.L422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50229430A>G" "" "benign" "" "0000247709" "0" "10" "22" "50682578" "50682578" "subst" "0.00370584" "02330" "TUBGCP6_000052" "g.50682578A>G" "" "" "" "TUBGCP6(NM_020461.4):c.311T>C (p.L104P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244149A>G" "" "benign" "" "0000248401" "0" "10" "22" "50664612" "50664612" "subst" "0.781121" "02325" "TUBGCP6_000034" "g.50664612A>G" "" "" "" "TUBGCP6(NM_020461.4):c.1700T>C (p.L567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50226183A>G" "" "benign" "" "0000248461" "0" "10" "22" "50658053" "50658053" "subst" "0.964389" "02325" "TUBGCP6_000011" "g.50658053A>G" "" "" "" "TUBGCP6(NM_020461.4):c.4315+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219624A>G" "" "benign" "" "0000254967" "0" "30" "22" "50659212" "50659212" "subst" "1.71343E-5" "01943" "TUBGCP6_000019" "g.50659212A>G" "" "" "" "TUBGCP6(NM_020461.3):c.3576T>C (p.S1192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220783A>G" "" "likely benign" "" "0000256484" "0" "50" "22" "50682300" "50682300" "subst" "0.000837528" "01943" "TUBGCP6_000042" "g.50682300A>G" "" "" "" "TUBGCP6(NM_020461.3):c.589T>C (p.S197P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50243871A>G" "" "VUS" "" "0000311037" "0" "10" "22" "50682879" "50682879" "subst" "0.0103118" "02330" "TUBGCP6_000045" "g.50682879T>C" "" "" "" "TUBGCP6(NM_020461.4):c.10A>G (p.I4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244450T>C" "" "benign" "" "0000311038" "0" "10" "22" "50662558" "50662558" "subst" "8.17127E-6" "02330" "TUBGCP6_000033" "g.50662558G>T" "" "" "" "TUBGCP6(NM_020461.4):c.2270+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50224129G>T" "" "benign" "" "0000311039" "0" "10" "22" "50682865" "50682865" "subst" "0.349187" "02330" "TUBGCP6_000044" "g.50682865G>A" "" "" "" "TUBGCP6(NM_020461.4):c.24C>T (p.F8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244436G>A" "" "benign" "" "0000311040" "0" "10" "22" "50660137" "50660137" "subst" "0.0432415" "02330" "TUBGCP6_000032" "g.50660137G>A" "" "" "" "TUBGCP6(NM_020461.4):c.2651C>T (p.A884V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221708G>A" "" "benign" "" "0000311041" "0" "10" "22" "50659598" "50659598" "subst" "0.020101" "02330" "TUBGCP6_000001" "g.50659598C>T" "" "" "" "TUBGCP6(NM_020461.4):c.3190G>A (p.G1064R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221169C>T" "" "benign" "" "0000311042" "0" "10" "22" "50659481" "50659481" "subst" "0.00182754" "02330" "TUBGCP6_000026" "g.50659481G>A" "" "" "" "TUBGCP6(NM_020461.4):c.3307C>T (p.R1103W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221052G>A" "" "benign" "" "0000311043" "0" "10" "22" "50659380" "50659380" "subst" "0.0206465" "02330" "TUBGCP6_000025" "g.50659380G>A" "" "" "" "TUBGCP6(NM_020461.4):c.3408C>T (p.H1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220951G>A" "" "benign" "" "0000311044" "0" "10" "22" "50659347" "50659347" "subst" "0.0125217" "02330" "TUBGCP6_000024" "g.50659347G>A" "" "" "" "TUBGCP6(NM_020461.4):c.3441C>T (p.N1147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220918G>A" "" "benign" "" "0000311045" "0" "10" "22" "50659292" "50659292" "subst" "0.00240674" "02330" "TUBGCP6_000021" "g.50659292C>T" "" "" "" "TUBGCP6(NM_020461.4):c.3496G>A (p.D1166N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220863C>T" "" "benign" "" "0000311046" "0" "10" "22" "50659275" "50659275" "subst" "0.0200239" "02330" "TUBGCP6_000020" "g.50659275C>T" "" "" "" "TUBGCP6(NM_020461.4):c.3513G>A (p.L1171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220846C>T" "" "benign" "" "0000311047" "0" "30" "22" "50659056" "50659056" "subst" "0.00268566" "02330" "TUBGCP6_000017" "g.50659056G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3732C>T (p.H1244=), TUBGCP6(NM_020461.4):c.3732C>T (p.H1244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220627G>A" "" "likely benign" "" "0000311048" "0" "10" "22" "50658698" "50658698" "subst" "0.142413" "02330" "TUBGCP6_000015" "g.50658698T>A" "" "" "" "TUBGCP6(NM_020461.4):c.4090A>T (p.S1364C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220269T>A" "" "benign" "" "0000311049" "0" "10" "22" "50658424" "50658424" "subst" "0.427117" "02330" "TUBGCP6_000014" "g.50658424T>C" "" "" "" "TUBGCP6(NM_020461.4):c.4129A>G (p.T1377A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219995T>C" "" "benign" "" "0000311050" "0" "30" "22" "50658233" "50658233" "subst" "0.000273365" "02330" "TUBGCP6_000013" "g.50658233C>G" "" "" "" "TUBGCP6(NM_020461.4):c.4168-13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219804C>G" "" "likely benign" "" "0000311051" "0" "30" "22" "50657884" "50657884" "subst" "0.00178316" "02330" "TUBGCP6_000009" "g.50657884G>T" "" "" "" "TUBGCP6(NM_020461.3):c.4317C>A (p.S1439=), TUBGCP6(NM_020461.4):c.4317C>A (p.S1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219455G>T" "" "likely benign" "" "0000311052" "0" "10" "22" "50657884" "50657884" "subst" "0.00250401" "02330" "TUBGCP6_000010" "g.50657884G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4317C>T (p.S1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219455G>A" "" "benign" "" "0000311054" "0" "10" "22" "50657225" "50657225" "subst" "0.00286561" "02330" "TUBGCP6_000007" "g.50657225G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4728C>T (p.H1576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218796G>A" "" "benign" "" "0000311055" "0" "10" "22" "50657219" "50657219" "subst" "0.0114131" "02330" "TUBGCP6_000006" "g.50657219G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4734C>T (p.S1578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218790G>A" "" "benign" "" "0000311056" "0" "10" "22" "50657189" "50657189" "subst" "0.00261252" "02330" "TUBGCP6_000005" "g.50657189G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4764C>T (p.P1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218760G>A" "" "benign" "" "0000311057" "0" "10" "22" "50657118" "50657118" "subst" "0.00719651" "02330" "TUBGCP6_000004" "g.50657118G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4821+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218689G>A" "" "benign" "" "0000311058" "0" "10" "22" "50657010" "50657010" "subst" "0.995575" "02330" "TUBGCP6_000003" "g.50657010C>G" "" "" "" "TUBGCP6(NM_020461.4):c.4861G>C (p.V1621L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218581C>G" "" "benign" "" "0000311059" "0" "30" "22" "50656647" "50656647" "subst" "0.00202807" "02330" "TUBGCP6_000049" "g.50656647G>A" "" "" "" "TUBGCP6(NM_020461.3):c.5139C>T (p.H1713=), TUBGCP6(NM_020461.4):c.5139C>T (p.H1713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218218G>A" "" "likely benign" "" "0000311060" "0" "10" "22" "50656534" "50656534" "subst" "0.00167755" "02330" "TUBGCP6_000048" "g.50656534C>T" "" "" "" "TUBGCP6(NM_020461.4):c.5181G>A (p.T1727=, p.(Thr1727Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218105C>T" "" "benign" "" "0000311061" "0" "10" "22" "50656428" "50656428" "subst" "0.0858194" "02330" "TUBGCP6_000047" "g.50656428G>A" "" "" "" "TUBGCP6(NM_020461.4):c.5287C>T (p.R1763W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50217999G>A" "" "benign" "" "0000311062" "0" "10" "22" "50682208" "50682208" "subst" "0.0110671" "02330" "TUBGCP6_000040" "g.50682208G>A" "" "" "" "TUBGCP6(NM_020461.4):c.681C>T (p.D227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50243779G>A" "" "benign" "" "0000312879" "0" "10" "22" "50682865" "50682865" "subst" "0.349187" "02325" "TUBGCP6_000044" "g.50682865G>A" "" "" "" "TUBGCP6(NM_020461.4):c.24C>T (p.F8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244436G>A" "" "benign" "" "0000312880" "0" "10" "22" "50658424" "50658424" "subst" "0.427117" "02325" "TUBGCP6_000014" "g.50658424T>C" "" "" "" "TUBGCP6(NM_020461.4):c.4129A>G (p.T1377A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219995T>C" "" "benign" "" "0000312881" "0" "10" "22" "50657010" "50657010" "subst" "0.995575" "02325" "TUBGCP6_000003" "g.50657010C>G" "" "" "" "TUBGCP6(NM_020461.4):c.4861G>C (p.V1621L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218581C>G" "" "benign" "" "0000319105" "0" "30" "22" "50667872" "50667872" "subst" "0.000151082" "01943" "TUBGCP6_000039" "g.50667872G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1251C>T (p.P417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50229443G>A" "" "likely benign" "" "0000319106" "0" "30" "22" "50666463" "50666463" "subst" "0.00094665" "01943" "TUBGCP6_000037" "g.50666463G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1291-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50228034G>A" "" "likely benign" "" "0000319107" "0" "30" "22" "50664767" "50664767" "subst" "2.04568E-5" "01943" "TUBGCP6_000036" "g.50664767C>T" "" "" "" "TUBGCP6(NM_020461.3):c.1642G>A (p.A548T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50226338C>T" "" "likely benign" "" "0000319108" "0" "50" "22" "50664718" "50664718" "subst" "8.12757E-6" "01943" "TUBGCP6_000035" "g.50664718C>T" "" "" "" "TUBGCP6(NM_020461.3):c.1691G>A (p.R564Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50226289C>T" "" "VUS" "" "0000319109" "0" "30" "22" "50660064" "50660064" "subst" "0.000342515" "01943" "TUBGCP6_000031" "g.50660064C>T" "" "" "" "TUBGCP6(NM_020461.3):c.2724G>A (p.P908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221635C>T" "" "likely benign" "" "0000319110" "0" "50" "22" "50660057" "50660057" "subst" "0" "01943" "TUBGCP6_000030" "g.50660057G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2731C>T (p.Q911*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221628G>A" "" "VUS" "" "0000319111" "0" "30" "22" "50659993" "50659993" "subst" "1.82335E-5" "01943" "TUBGCP6_000029" "g.50659993G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2795C>T (p.S932L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221564G>A" "" "likely benign" "" "0000319112" "0" "30" "22" "50659797" "50659797" "subst" "0.00141591" "01943" "TUBGCP6_000028" "g.50659797G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2991C>T (p.S997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221368G>A" "" "likely benign" "" "0000319113" "0" "50" "22" "50659595" "50659595" "subst" "0.000442625" "01943" "TUBGCP6_000027" "g.50659595C>T" "" "" "" "TUBGCP6(NM_020461.3):c.3193G>A (p.E1065K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50221166C>T" "" "VUS" "" "0000319114" "0" "30" "22" "50659329" "50659329" "subst" "0.000629498" "01943" "TUBGCP6_000023" "g.50659329G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3459C>T (p.P1153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220900G>A" "" "likely benign" "" "0000319115" "0" "30" "22" "50659293" "50659293" "subst" "5.74991E-5" "01943" "TUBGCP6_000022" "g.50659293G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3495C>T (p.S1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220864G>A" "" "likely benign" "" "0000319116" "0" "30" "22" "50659098" "50659098" "subst" "0" "01943" "TUBGCP6_000018" "g.50659098C>T" "" "" "" "TUBGCP6(NM_020461.3):c.3690G>A (p.S1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220669C>T" "" "likely benign" "" "0000319117" "0" "30" "22" "50659056" "50659056" "subst" "0.00268566" "01943" "TUBGCP6_000017" "g.50659056G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3732C>T (p.H1244=), TUBGCP6(NM_020461.4):c.3732C>T (p.H1244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220627G>A" "" "likely benign" "" "0000319118" "0" "30" "22" "50659047" "50659047" "subst" "0.000187114" "01943" "TUBGCP6_000016" "g.50659047G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3741C>T (p.D1247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50220618G>A" "" "likely benign" "" "0000319119" "0" "30" "22" "50658162" "50658162" "subst" "6.5162E-5" "01943" "TUBGCP6_000012" "g.50658162G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4226C>T (p.A1409V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219733G>A" "" "likely benign" "" "0000319120" "0" "10" "22" "50657884" "50657884" "subst" "0.00178316" "01943" "TUBGCP6_000009" "g.50657884G>T" "" "" "" "TUBGCP6(NM_020461.3):c.4317C>A (p.S1439=), TUBGCP6(NM_020461.4):c.4317C>A (p.S1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50219455G>T" "" "benign" "" "0000319121" "0" "30" "22" "50657008" "50657008" "subst" "0.000678669" "01943" "TUBGCP6_000051" "g.50657008C>T" "" "" "" "TUBGCP6(NM_020461.3):c.4863G>A (p.L1621=), TUBGCP6(NM_020461.4):c.4863G>A (p.V1621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218579C>T" "" "likely benign" "" "0000319122" "0" "30" "22" "50656972" "50656972" "subst" "0" "01943" "TUBGCP6_000050" "g.50656972C>T" "" "" "" "TUBGCP6(NM_020461.3):c.4899G>A (p.Q1633=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218543C>T" "" "likely benign" "" "0000319123" "0" "30" "22" "50656647" "50656647" "subst" "0.00202807" "01943" "TUBGCP6_000049" "g.50656647G>A" "" "" "" "TUBGCP6(NM_020461.3):c.5139C>T (p.H1713=), TUBGCP6(NM_020461.4):c.5139C>T (p.H1713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50218218G>A" "" "likely benign" "" "0000319124" "0" "50" "22" "50682234" "50682234" "subst" "0.000601729" "01943" "TUBGCP6_000041" "g.50682234C>A" "" "" "" "TUBGCP6(NM_020461.3):c.655G>T (p.V219L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50243805C>A" "" "VUS" "" "0000319125" "0" "30" "22" "50682800" "50682800" "subst" "0.000516466" "01943" "TUBGCP6_000043" "g.50682800C>T" "" "" "" "TUBGCP6(NM_020461.3):c.89G>A (p.R30Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50244371C>T" "" "likely benign" "" "0000347202" "0" "50" "22" "50665234" "50665234" "subst" "9.80931E-6" "02327" "TUBGCP6_000046" "g.50665234A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50226805A>C" "" "VUS" "" "0000572313" "0" "30" "22" "50656263" "50656263" "dup" "0" "02330" "TUBGCP6_000053" "g.50656263dup" "" "" "" "TUBGCP6(NM_020461.3):c.5369-7dupT, TUBGCP6(NM_020461.4):c.5369-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50217834dup" "" "likely benign" "" "0000572314" "0" "30" "22" "50656263" "50656263" "dup" "0" "01943" "TUBGCP6_000053" "g.50656263dup" "" "" "" "TUBGCP6(NM_020461.3):c.5369-7dupT, TUBGCP6(NM_020461.4):c.5369-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50217834dup" "" "likely benign" "" "0000572316" "0" "30" "22" "50656736" "50656736" "subst" "0.000760494" "01804" "TUBGCP6_000055" "g.50656736T>C" "" "" "" "TUBGCP6(NM_020461.3):c.5050A>G (p.(Ile1684Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50218307T>C" "" "likely benign" "" "0000572317" "0" "30" "22" "50657008" "50657008" "subst" "0.000678669" "02330" "TUBGCP6_000051" "g.50657008C>T" "" "" "" "TUBGCP6(NM_020461.3):c.4863G>A (p.L1621=), TUBGCP6(NM_020461.4):c.4863G>A (p.V1621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50218579C>T" "" "likely benign" "" "0000572318" "0" "10" "22" "50657112" "50657112" "subst" "0.132737" "02330" "TUBGCP6_000056" "g.50657112C>T" "" "" "" "TUBGCP6(NM_020461.4):c.4821+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50218683C>T" "" "benign" "" "0000572319" "0" "30" "22" "50657611" "50657611" "subst" "0.00744607" "02330" "TUBGCP6_000057" "g.50657611G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4512C>T (p.V1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50219182G>A" "" "likely benign" "" "0000572320" "0" "50" "22" "50657765" "50657765" "subst" "3.30391E-5" "01943" "TUBGCP6_000058" "g.50657765G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4436C>T (p.T1479M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50219336G>A" "" "VUS" "" "0000572321" "0" "10" "22" "50657803" "50657803" "subst" "0.00139852" "02330" "TUBGCP6_000059" "g.50657803G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4398C>T (p.A1466=), TUBGCP6(NM_020461.4):c.4398C>T (p.A1466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50219374G>A" "" "benign" "" "0000572322" "0" "30" "22" "50657803" "50657803" "subst" "0.00139852" "01943" "TUBGCP6_000059" "g.50657803G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4398C>T (p.A1466=), TUBGCP6(NM_020461.4):c.4398C>T (p.A1466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50219374G>A" "" "likely benign" "" "0000572324" "0" "30" "22" "50657854" "50657854" "subst" "0.000916747" "01943" "TUBGCP6_000061" "g.50657854G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4347C>T (p.P1449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50219425G>A" "" "likely benign" "" "0000572325" "0" "30" "22" "50659094" "50659094" "subst" "0.0155336" "01804" "TUBGCP6_000062" "g.50659094C>T" "" "" "" "TUBGCP6(NM_020461.3):c.3694G>A (p.(Val1232Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50220665C>T" "" "likely benign" "" "0000572326" "0" "30" "22" "50659248" "50659248" "subst" "4.87432E-5" "01943" "TUBGCP6_000063" "g.50659248G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3540C>T (p.P1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50220819G>A" "" "likely benign" "" "0000572327" "0" "30" "22" "50659299" "50659299" "subst" "0.000182766" "01943" "TUBGCP6_000064" "g.50659299G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3489C>T (p.H1163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50220870G>A" "" "likely benign" "" "0000572328" "0" "30" "22" "50659500" "50659500" "subst" "7.31707E-5" "01804" "TUBGCP6_000065" "g.50659500A>C" "" "" "" "TUBGCP6(NM_020461.3):c.3288T>G (p.(Asp1096Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50221071A>C" "" "likely benign" "" "0000572330" "0" "30" "22" "50659745" "50659745" "subst" "7.74322E-5" "01804" "TUBGCP6_000066" "g.50659745C>T" "" "" "" "TUBGCP6(NM_020461.3):c.3043G>A (p.(Glu1015Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50221316C>T" "" "likely benign" "" "0000572332" "0" "30" "22" "50660184" "50660184" "subst" "1.75119E-5" "01943" "TUBGCP6_000067" "g.50660184G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2604C>T (p.P868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50221755G>A" "" "likely benign" "" "0000572334" "0" "30" "22" "50660971" "50660971" "subst" "0" "01804" "TUBGCP6_000069" "g.50660971C>T" "" "" "" "TUBGCP6(NM_020461.3):c.2321G>A (p.(Arg774Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50222542C>T" "" "likely benign" "" "0000572335" "0" "10" "22" "50662860" "50662860" "subst" "0.00104359" "02330" "TUBGCP6_000070" "g.50662860A>G" "" "" "" "TUBGCP6(NM_020461.4):c.2066-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50224431A>G" "" "benign" "" "0000572336" "0" "50" "22" "50666409" "50666409" "subst" "0.000347179" "01943" "TUBGCP6_000071" "g.50666409C>T" "" "" "" "TUBGCP6(NM_020461.3):c.1339G>A (p.V447I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50227980C>T" "" "VUS" "" "0000572337" "0" "30" "22" "50671814" "50671814" "subst" "6.10133E-5" "02330" "TUBGCP6_000072" "g.50671814C>T" "" "" "" "TUBGCP6(NM_020461.4):c.1047G>A (p.E349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50233385C>T" "" "likely benign" "" "0000572338" "0" "30" "22" "50678620" "50678620" "subst" "0.0205506" "02330" "HDAC10_000001" "g.50678620G>C" "" "" "" "TUBGCP6(NM_020461.4):c.905+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50240191G>C" "" "likely benign" "" "0000572339" "0" "30" "22" "50678682" "50678682" "subst" "4.88198E-5" "01943" "HDAC10_000002" "g.50678682C>T" "" "" "" "TUBGCP6(NM_020461.3):c.856G>A (p.A286T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50240253C>T" "" "likely benign" "" "0000572340" "0" "30" "22" "50678789" "50678789" "subst" "4.88365E-5" "01943" "HDAC10_000003" "g.50678789G>A" "" "" "" "TUBGCP6(NM_020461.3):c.749C>T (p.P250L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50240360G>A" "" "likely benign" "" "0000572341" "0" "50" "22" "50682554" "50682554" "subst" "2.84407E-5" "01804" "HDAC10_000004" "g.50682554T>C" "" "" "" "TUBGCP6(NM_020461.3):c.335A>G (p.(Asp112Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50244125T>C" "" "VUS" "" "0000572342" "0" "30" "22" "50682728" "50682728" "subst" "0.000686529" "01943" "HDAC10_000005" "g.50682728G>C" "" "" "" "TUBGCP6(NM_020461.3):c.161C>G (p.T54S), TUBGCP6(NM_020461.4):c.161C>G (p.T54S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50244299G>C" "" "likely benign" "" "0000572344" "0" "30" "22" "50687601" "50687601" "subst" "0" "01804" "HDAC10_000007" "g.50687601G>A" "" "" "" "HDAC10(NM_001159286.1):c.691-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50249172G>A" "" "likely benign" "" "0000618639" "0" "30" "22" "50657602" "50657602" "subst" "4.09813E-6" "01943" "TUBGCP6_000073" "g.50657602G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4521C>T (p.F1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50219173G>A" "" "likely benign" "" "0000624323" "0" "30" "22" "50666407" "50666407" "subst" "0" "01943" "TUBGCP6_000074" "g.50666407G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1341C>T (p.V447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50227978G>A" "" "likely benign" "" "0000629451" "21" "90" "22" "50662855" "50662855" "subst" "6.09097E-5" "03383" "TUBGCP6_000075" "g.50662855T>C" "" "{PMID:Hull 2019:31077665}" "" "" "" "Germline" "" "" "0" "" "" "g.50224426T>C" "" "likely pathogenic" "" "0000651012" "1" "50" "22" "50659595" "50659595" "subst" "0.000442625" "03575" "TUBGCP6_000027" "g.50659595C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs143759693}" "Germline" "" "rs143759693" "0" "" "" "g.50221166C>T" "" "VUS" "" "0000651013" "1" "50" "22" "50682644" "50682644" "subst" "0.000146474" "03575" "TUBGCP6_000076" "g.50682644A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs200360214}" "Germline" "" "rs200360214" "0" "" "" "g.50244215A>C" "" "VUS" "" "0000658978" "0" "30" "22" "50656456" "50656456" "subst" "0" "01943" "TUBGCP6_000077" "g.50656456G>C" "" "" "" "TUBGCP6(NM_020461.3):c.5259C>G (p.S1753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50218027G>C" "" "likely benign" "" "0000658979" "0" "30" "22" "50660298" "50660298" "subst" "0.000306412" "01943" "TUBGCP6_000078" "g.50660298C>G" "" "" "" "TUBGCP6(NM_020461.3):c.2490G>C (p.T830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50221869C>G" "" "likely benign" "" "0000658980" "0" "50" "22" "50678679" "50678679" "subst" "0" "01943" "HDAC10_000010" "g.50678679G>A" "" "" "" "TUBGCP6(NM_020461.3):c.859C>T (p.L287F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50240250G>A" "" "VUS" "" "0000681922" "0" "30" "22" "50657566" "50657566" "subst" "0" "01943" "TUBGCP6_000079" "g.50657566T>C" "" "" "" "TUBGCP6(NM_020461.3):c.4557A>G (p.A1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681923" "0" "30" "22" "50658686" "50658686" "subst" "0.000191132" "01943" "TUBGCP6_000080" "g.50658686C>T" "" "" "" "TUBGCP6(NM_020461.3):c.4102G>A (p.E1368K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681924" "0" "30" "22" "50659591" "50659591" "subst" "0" "01804" "TUBGCP6_000081" "g.50659591T>A" "" "" "" "TUBGCP6(NM_020461.3):c.3197A>T (p.(Asn1066Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681925" "0" "30" "22" "50662638" "50662638" "subst" "6.09226E-5" "01943" "TUBGCP6_000082" "g.50662638G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2202C>T (p.Y734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681926" "0" "30" "22" "50664542" "50664542" "subst" "0" "01943" "TUBGCP6_000083" "g.50664542G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1770C>T (p.H590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681927" "0" "50" "22" "50665175" "50665175" "subst" "0.000385001" "01943" "TUBGCP6_000084" "g.50665175C>T" "" "" "" "TUBGCP6(NM_020461.3):c.1588G>A (p.E530K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681928" "0" "30" "22" "50682582" "50682582" "subst" "0" "01804" "HDAC10_000011" "g.50682582G>T" "" "" "" "TUBGCP6(NM_020461.3):c.307C>A (p.(Pro103Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693212" "0" "50" "22" "50657720" "50657720" "subst" "0" "01943" "TUBGCP6_000085" "g.50657720G>C" "" "" "" "TUBGCP6(NM_020461.3):c.4481C>G (p.A1494G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693213" "0" "50" "22" "50659061" "50659061" "subst" "2.43756E-5" "01943" "TUBGCP6_000086" "g.50659061C>T" "" "" "" "TUBGCP6(NM_020461.3):c.3727G>A (p.G1243R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698222" "1" "70" "22" "50665175" "50665175" "subst" "0.000385001" "00006" "TUBGCP6_000084" "g.50665175C>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.50226746C>T" "" "VUS" "" "0000698223" "2" "70" "22" "50656235" "50656236" "ins" "0" "00006" "TUBGCP6_000087" "g.50656235_50656236insCCCAAGT" "" "{PMID:Zhu 2015:25590979}" "" "" "" "Germline" "" "" "0" "" "" "g.50217806_50217807insCCCAAGT" "" "VUS" "" "0000728209" "0" "50" "22" "50656427" "50656427" "subst" "6.21406E-5" "01943" "TUBGCP6_000088" "g.50656427C>T" "" "" "" "TUBGCP6(NM_020461.3):c.5288G>A (p.R1763Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728210" "0" "50" "22" "50657603" "50657603" "subst" "0.000110609" "01943" "TUBGCP6_000089" "g.50657603A>T" "" "" "" "TUBGCP6(NM_020461.3):c.4520T>A (p.F1507Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728211" "0" "70" "22" "50657798" "50657798" "del" "0" "02329" "TUBGCP6_000008" "g.50657798del" "" "" "" "TUBGCP6(NM_020461.4):c.4403delA (p.D1468Vfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728212" "0" "50" "22" "50658442" "50658442" "subst" "0.000481703" "01943" "TUBGCP6_000090" "g.50658442G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4111C>T (p.P1371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728213" "0" "50" "22" "50659281" "50659281" "subst" "0" "01943" "TUBGCP6_000091" "g.50659281G>C" "" "" "" "TUBGCP6(NM_020461.3):c.3507C>G (p.I1169M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728214" "0" "30" "22" "50660301" "50660301" "subst" "0.00255344" "01943" "TUBGCP6_000092" "g.50660301G>C" "" "" "" "TUBGCP6(NM_020461.3):c.2487C>G (p.V829=), TUBGCP6(NM_020461.4):c.2487C>G (p.V829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728215" "0" "50" "22" "50662825" "50662825" "subst" "0" "01943" "TUBGCP6_000093" "g.50662825G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2090C>T (p.A697V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728216" "0" "30" "22" "50665428" "50665428" "subst" "1.67985E-5" "01943" "TUBGCP6_000094" "g.50665428G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1491C>T (p.T497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728217" "0" "30" "22" "50671799" "50671799" "subst" "0.000113942" "01943" "TUBGCP6_000095" "g.50671799T>C" "" "" "" "TUBGCP6(NM_020461.3):c.1062A>G (p.K354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728218" "0" "30" "22" "50682847" "50682847" "subst" "0.0009798" "01943" "HDAC10_000012" "g.50682847G>T" "" "" "" "TUBGCP6(NM_020461.3):c.42C>A (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787424" "1" "50" "22" "50659649" "50659649" "subst" "0.000113705" "00006" "TUBGCP6_000099" "g.50659649G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs538652140" "0" "" "" "g.50221220G>A" "" "VUS" "" "0000787425" "1" "50" "22" "50657256" "50657256" "subst" "0" "00006" "TUBGCP6_000098" "g.50657256A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.50218827A>C" "" "VUS" "" "0000787617" "2" "50" "22" "50656646" "50656646" "subst" "6.13828E-5" "00000" "TUBGCP6_000096" "g.50656646C>T" "" "0" "" "" "" "Germline" "" "rs748135189" "0" "" "" "g.50218217C>T" "" "VUS" "" "0000787618" "2" "50" "22" "50656981" "50656981" "subst" "0" "00000" "TUBGCP6_000097" "g.50656981G>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.50218552G>T" "" "VUS" "" "0000809667" "0" "30" "22" "50657892" "50657892" "subst" "6.21163E-5" "01943" "TUBGCP6_000100" "g.50657892G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4316-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809668" "0" "50" "22" "50660975" "50660975" "subst" "2.84898E-5" "01943" "TUBGCP6_000101" "g.50660975G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2317C>T (p.R773C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809669" "0" "50" "22" "50664302" "50664302" "subst" "0" "01943" "TUBGCP6_000102" "g.50664302T>A" "" "" "" "TUBGCP6(NM_020461.3):c.1904A>T (p.E635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809670" "0" "70" "22" "50664719" "50664719" "subst" "4.06379E-6" "01943" "TUBGCP6_000103" "g.50664719G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1690C>T (p.R564*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000809671" "0" "30" "22" "50664735" "50664735" "subst" "1.62669E-5" "01943" "TUBGCP6_000104" "g.50664735G>A" "" "" "" "TUBGCP6(NM_020461.3):c.1674C>T (p.H558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811803" "21" "70" "22" "50662855" "50662855" "subst" "6.09097E-5" "00000" "TUBGCP6_000075" "g.50662855T>C" "" "{PMID:Hull 2019:31077665}" "" "c.2066-6A>G, r.2065_2066ins2066-1_2066-5, p.(D689Vfs*2)" "heterozygous" "Germline" "?" "" "0" "" "" "g.50224426T>C" "" "likely pathogenic" "" "0000811804" "21" "70" "22" "50662855" "50662855" "subst" "6.09097E-5" "00000" "TUBGCP6_000075" "g.50662855T>C" "" "{PMID:Hull 2019:31077665}" "" "c.2066-6A>G, r.2065_2066ins2066-1_2066-5, p.(D689Vfs*2)" "heterozygous" "Germline" "?" "" "0" "" "" "g.50224426T>C" "" "likely pathogenic" "" "0000811805" "10" "70" "22" "50657659" "50657659" "subst" "0" "00000" "TUBGCP6_000105" "g.50657659T>G" "" "{PMID:Hull 2019:31077665}" "" "c.4485-21A>C" "heterozygous" "Germline" "?" "" "0" "" "" "g.50219230T>G" "" "likely pathogenic" "" "0000811806" "10" "70" "22" "50657659" "50657659" "subst" "0" "00000" "TUBGCP6_000105" "g.50657659T>G" "" "{PMID:Hull 2019:31077665}" "" "c.4485-21A>C" "heterozygous" "Germline" "?" "" "0" "" "" "g.50219230T>G" "" "likely pathogenic" "" "0000830192" "3" "50" "22" "50664251" "50664251" "subst" "8.17067E-6" "00006" "TUBGCP6_000106" "g.50664251C>T" "" "{PMID:Díaz-Gonzalez 2021:33106379}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000847522" "3" "70" "22" "50656167" "50656167" "subst" "0" "00000" "TUBGCP6_000107" "g.50656167A>C" "population-specific allele frequency: 0.99% (4/404)" "{PMID:Puffenberger 2012:22279524}" "" "TUBGCP6 c.5458T>G, p.Ter1820Gly" "homozygous" "Germline" "yes" "" "0" "" "" "g.50217738A>C" "" "likely pathogenic" "" "0000856196" "0" "30" "22" "50656812" "50656812" "subst" "0.000131482" "01943" "TUBGCP6_000108" "g.50656812G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4974C>T (p.A1658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856197" "0" "30" "22" "50660301" "50660301" "subst" "0.00255344" "02330" "TUBGCP6_000092" "g.50660301G>C" "" "" "" "TUBGCP6(NM_020461.3):c.2487C>G (p.V829=), TUBGCP6(NM_020461.4):c.2487C>G (p.V829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856198" "0" "50" "22" "50660498" "50660498" "subst" "4.06352E-5" "01943" "TUBGCP6_000114" "g.50660498G>A" "" "" "" "TUBGCP6(NM_020461.3):c.2443C>T (p.P815S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856199" "0" "30" "22" "50664471" "50664471" "subst" "4.06412E-5" "02330" "TUBGCP6_000115" "g.50664471C>T" "" "" "" "TUBGCP6(NM_020461.4):c.1833+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856200" "0" "50" "22" "50682590" "50682590" "subst" "1.62554E-5" "01943" "HDAC10_000014" "g.50682590G>C" "" "" "" "TUBGCP6(NM_020461.3):c.299C>G (p.P100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866891" "0" "30" "22" "50656942" "50656942" "subst" "0.000589421" "01943" "TUBGCP6_000109" "g.50656942G>A" "" "" "" "TUBGCP6(NM_020461.3):c.4929C>T (p.D1643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866892" "0" "30" "22" "50657722" "50657722" "subst" "0.000231719" "02330" "TUBGCP6_000110" "g.50657722G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4479C>T (p.A1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866893" "0" "30" "22" "50658167" "50658167" "subst" "0.000349739" "02330" "TUBGCP6_000111" "g.50658167C>T" "" "" "" "TUBGCP6(NM_020461.4):c.4221G>A (p.S1407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866894" "0" "30" "22" "50658460" "50658460" "subst" "0" "02330" "TUBGCP6_000112" "g.50658460T>C" "" "" "" "TUBGCP6(NM_020461.4):c.4109-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866895" "0" "30" "22" "50659082" "50659082" "subst" "5.68727E-5" "01943" "TUBGCP6_000113" "g.50659082G>A" "" "" "" "TUBGCP6(NM_020461.3):c.3706C>T (p.R1236W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866896" "0" "30" "22" "50671927" "50671927" "subst" "0" "01943" "TUBGCP6_000116" "g.50671927G>A" "" "" "" "TUBGCP6(NM_020461.3):c.934C>T (p.L312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866897" "0" "50" "22" "50678653" "50678653" "subst" "0.000109811" "01943" "HDAC10_000013" "g.50678653C>A" "" "" "" "TUBGCP6(NM_020461.3):c.885G>T (p.R295S), TUBGCP6(NM_020461.4):c.885G>T (p.R295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895792" "0" "30" "22" "50656245" "50656245" "subst" "4.07375E-6" "02330" "TUBGCP6_000117" "g.50656245G>A" "" "" "" "TUBGCP6(NM_020461.4):c.5380C>T (p.L1794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895793" "0" "30" "22" "50656734" "50656734" "subst" "0.000940511" "02330" "TUBGCP6_000118" "g.50656734G>A" "" "" "" "TUBGCP6(NM_020461.4):c.5052C>T (p.I1684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895794" "0" "30" "22" "50656897" "50656897" "subst" "7.34592E-5" "02330" "TUBGCP6_000119" "g.50656897G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4954+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895795" "0" "30" "22" "50659548" "50659548" "subst" "0.000683967" "02330" "TUBGCP6_000120" "g.50659548G>A" "" "" "" "TUBGCP6(NM_020461.4):c.3240C>T (p.H1080=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895796" "0" "30" "22" "50662986" "50662986" "subst" "4.06151E-5" "02330" "TUBGCP6_000121" "g.50662986G>A" "" "" "" "TUBGCP6(NM_020461.4):c.2019C>T (p.I673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895797" "0" "30" "22" "50664697" "50664697" "subst" "0.000130016" "02330" "TUBGCP6_000122" "g.50664697G>A" "" "" "" "TUBGCP6(NM_020461.4):c.1693+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895798" "0" "30" "22" "50682205" "50682205" "subst" "4.06577E-6" "02330" "HDAC10_000015" "g.50682205G>A" "" "" "" "TUBGCP6(NM_020461.4):c.684C>T (p.V228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895799" "0" "30" "22" "50682850" "50682850" "subst" "0" "02330" "HDAC10_000016" "g.50682850C>T" "" "" "" "TUBGCP6(NM_020461.4):c.39G>A (p.E13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000899415" "1" "70" "22" "50659625" "50659625" "subst" "4.06078E-6" "00000" "KIF11_000002" "g.50659625G>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.C3163T: p.H1055Y" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50221196G>A" "" "likely pathogenic" "" "0000899416" "1" "70" "22" "50659625" "50659625" "subst" "4.06078E-6" "00000" "KIF11_000002" "g.50659625G>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.C3163T:p.H1055Y" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50221196G>A" "" "likely pathogenic" "" "0000899418" "2" "70" "22" "50659223" "50659223" "subst" "0" "00000" "KIF11_000001" "g.50659223C>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.G3565T: p.G1189X" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50220794C>A" "" "likely pathogenic" "" "0000899419" "2" "70" "22" "50659223" "50659223" "subst" "0" "00000" "KIF11_000001" "g.50659223C>A" "" "{PMID:Shurygina 2020:33137195}" "" "TUBGCP6 c.C3163T:p.H1055Y" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50220794C>A" "" "likely pathogenic" "" "0000927224" "0" "30" "22" "50665287" "50665287" "subst" "0.000199054" "02330" "TUBGCP6_000123" "g.50665287G>C" "" "" "" "TUBGCP6(NM_020461.4):c.1492-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951632" "0" "30" "22" "50657065" "50657065" "subst" "0.000138377" "02330" "TUBGCP6_000124" "g.50657065G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4822-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951633" "0" "30" "22" "50659182" "50659182" "subst" "0" "02330" "TUBGCP6_000125" "g.50659182C>A" "" "" "" "TUBGCP6(NM_020461.4):c.3606G>T (p.V1202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951634" "0" "30" "22" "50678683" "50678683" "subst" "0.000174882" "02330" "HDAC10_000017" "g.50678683G>A" "" "" "" "TUBGCP6(NM_020461.4):c.855C>T (p.A285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970525" "0" "30" "22" "50656773" "50656773" "subst" "0.000114829" "02330" "TUBGCP6_000126" "g.50656773G>A" "" "" "" "TUBGCP6(NM_020461.4):c.5013C>T (p.H1671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970527" "0" "30" "22" "50658206" "50658206" "subst" "0.000354243" "02330" "TUBGCP6_000127" "g.50658206G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4182C>T (p.A1394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970528" "0" "30" "22" "50662558" "50662558" "subst" "0.000727243" "02330" "TUBGCP6_000128" "g.50662558G>A" "" "" "" "TUBGCP6(NM_020461.4):c.2270+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970529" "0" "30" "22" "50664533" "50664533" "subst" "0.00011777" "02330" "TUBGCP6_000129" "g.50664533G>A" "" "" "" "TUBGCP6(NM_020461.4):c.1779C>T (p.H593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970530" "0" "30" "22" "50665224" "50665224" "subst" "0.000121365" "02330" "TUBGCP6_000130" "g.50665224G>A" "" "" "" "TUBGCP6(NM_020461.4):c.1539C>T (p.C513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970531" "0" "30" "22" "50665476" "50665476" "subst" "0.00103427" "02330" "TUBGCP6_000131" "g.50665476A>G" "" "" "" "TUBGCP6(NM_020461.4):c.1443T>C (p.A481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970532" "0" "30" "22" "50678701" "50678701" "subst" "0.000984028" "02330" "HDAC10_000018" "g.50678701G>A" "" "" "" "TUBGCP6(NM_020461.4):c.837C>T (p.D279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970533" "0" "30" "22" "50682728" "50682728" "subst" "0.000686529" "02330" "HDAC10_000005" "g.50682728G>C" "" "" "" "TUBGCP6(NM_020461.3):c.161C>G (p.T54S), TUBGCP6(NM_020461.4):c.161C>G (p.T54S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984306" "0" "50" "22" "50656194" "50656194" "subst" "0" "01804" "TUBGCP6_000132" "g.50656194T>A" "" "" "" "TUBGCP6(NM_020461.4):c.5431A>T (p.(Asn1811Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984307" "0" "30" "22" "50656534" "50656534" "subst" "0.00167755" "01804" "TUBGCP6_000048" "g.50656534C>T" "" "" "" "TUBGCP6(NM_020461.4):c.5181G>A (p.T1727=, p.(Thr1727Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984308" "0" "30" "22" "50656847" "50656853" "del" "0" "01804" "TUBGCP6_000133" "g.50656847_50656853del" "" "" "" "TUBGCP6(NM_020461.4):c.4955-16_4955-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984309" "0" "50" "22" "50664270" "50664270" "subst" "5.29536E-5" "01804" "TUBGCP6_000134" "g.50664270G>A" "" "" "" "TUBGCP6(NM_020461.4):c.1936C>T (p.(Arg646Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006244" "0" "70" "22" "50659395" "50659395" "subst" "0" "02327" "TUBGCP6_000135" "g.50659395C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006245" "0" "30" "22" "50659499" "50659499" "subst" "0.000215225" "01804" "TUBGCP6_000136" "g.50659499C>T" "" "" "" "TUBGCP6(NM_020461.3):c.3289G>A (p.(Val1097Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006246" "0" "90" "22" "50662855" "50662855" "subst" "6.09097E-5" "02327" "TUBGCP6_000075" "g.50662855T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001043946" "0" "30" "22" "50655488" "50655488" "subst" "0.000861766" "01804" "TUBGCP6_000137" "g.50655488G>A" "" "" "" "SELENOO(NM_031454.2):c.1776G>A (p.(Pro592=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043947" "0" "50" "22" "50656182" "50656184" "del" "0" "01804" "TUBGCP6_000138" "g.50656182_50656184del" "" "" "" "TUBGCP6(NM_020461.4):c.5446_5448del (p.(Tyr1816del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043948" "0" "50" "22" "50658195" "50658195" "subst" "0" "02325" "TUBGCP6_000139" "g.50658195G>A" "" "" "" "TUBGCP6(NM_020461.4):c.4193C>T (p.P1398L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043949" "0" "30" "22" "50671932" "50671932" "subst" "0" "01804" "TUBGCP6_000140" "g.50671932G>C" "" "" "" "TUBGCP6(NM_020461.4):c.929C>G (p.(Pro310Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043950" "0" "50" "22" "50678653" "50678653" "subst" "0.000109811" "02325" "HDAC10_000013" "g.50678653C>A" "" "" "" "TUBGCP6(NM_020461.3):c.885G>T (p.R295S), TUBGCP6(NM_020461.4):c.885G>T (p.R295S)" "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 TUBGCP6 ## Count = 179 "{{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}}" "0000037591" "00022146" "50" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Gly1064Arg)" "" "0000079353" "00022146" "90" "-983898" "0" "3478681" "0" "c.-983898_*3473221del" "r.0?" "p.0?" "" "0000240213" "00022146" "70" "4315" "1" "4315" "1" "c.4315+1G>A" "r.spl" "p.?" "" "0000247701" "00022146" "10" "1700" "0" "1700" "0" "c.1700T>C" "r.(?)" "p.(Leu567Ser)" "" "0000247702" "00022146" "10" "4315" "20" "4315" "20" "c.4315+20T>C" "r.(=)" "p.(=)" "" "0000247706" "00022146" "10" "1264" "0" "1264" "0" "c.1264T>C" "r.(?)" "p.(Leu422=)" "" "0000247709" "00022146" "10" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Leu104Pro)" "" "0000248401" "00022146" "10" "1700" "0" "1700" "0" "c.1700T>C" "r.(?)" "p.(Leu567Ser)" "" "0000248461" "00022146" "10" "4315" "20" "4315" "20" "c.4315+20T>C" "r.(=)" "p.(=)" "" "0000254967" "00022146" "30" "3576" "0" "3576" "0" "c.3576T>C" "r.(?)" "p.(Ser1192=)" "" "0000256484" "00022146" "50" "589" "0" "589" "0" "c.589T>C" "r.(?)" "p.(Ser197Pro)" "" "0000311037" "00022146" "10" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Ile4Val)" "" "0000311038" "00022146" "10" "2270" "12" "2270" "12" "c.2270+12C>A" "r.(=)" "p.(=)" "" "0000311039" "00022146" "10" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Phe8=)" "" "0000311040" "00022146" "10" "2651" "0" "2651" "0" "c.2651C>T" "r.(?)" "p.(Ala884Val)" "" "0000311041" "00022146" "10" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Gly1064Arg)" "" "0000311042" "00022146" "10" "3307" "0" "3307" "0" "c.3307C>T" "r.(?)" "p.(Arg1103Trp)" "" "0000311043" "00022146" "10" "3408" "0" "3408" "0" "c.3408C>T" "r.(?)" "p.(His1136=)" "" "0000311044" "00022146" "10" "3441" "0" "3441" "0" "c.3441C>T" "r.(?)" "p.(Asn1147=)" "" "0000311045" "00022146" "10" "3496" "0" "3496" "0" "c.3496G>A" "r.(?)" "p.(Asp1166Asn)" "" "0000311046" "00022146" "10" "3513" "0" "3513" "0" "c.3513G>A" "r.(?)" "p.(Leu1171=)" "" "0000311047" "00022146" "30" "3732" "0" "3732" "0" "c.3732C>T" "r.(?)" "p.(His1244=)" "" "0000311048" "00022146" "10" "4090" "0" "4090" "0" "c.4090A>T" "r.(?)" "p.(Ser1364Cys)" "" "0000311049" "00022146" "10" "4129" "0" "4129" "0" "c.4129A>G" "r.(?)" "p.(Thr1377Ala)" "" "0000311050" "00022146" "30" "4168" "-13" "4168" "-13" "c.4168-13G>C" "r.(=)" "p.(=)" "" "0000311051" "00022146" "30" "4317" "0" "4317" "0" "c.4317C>A" "r.(?)" "p.(Ser1439=)" "" "0000311052" "00022146" "10" "4317" "0" "4317" "0" "c.4317C>T" "r.(?)" "p.(Ser1439=)" "" "0000311054" "00022146" "10" "4728" "0" "4728" "0" "c.4728C>T" "r.(?)" "p.(His1576=)" "" "0000311055" "00022146" "10" "4734" "0" "4734" "0" "c.4734C>T" "r.(?)" "p.(Ser1578=)" "" "0000311056" "00022146" "10" "4764" "0" "4764" "0" "c.4764C>T" "r.(?)" "p.(Pro1588=)" "" "0000311057" "00022146" "10" "4821" "14" "4821" "14" "c.4821+14C>T" "r.(=)" "p.(=)" "" "0000311058" "00022146" "10" "4861" "0" "4861" "0" "c.4861=" "r.(=)" "p.(Leu1621=)" "" "0000311059" "00022146" "30" "5139" "0" "5139" "0" "c.5139C>T" "r.(?)" "p.(His1713=)" "" "0000311060" "00022146" "10" "5181" "0" "5181" "0" "c.5181G>A" "r.(?)" "p.(Thr1727=)" "" "0000311061" "00022146" "10" "5287" "0" "5287" "0" "c.5287C>T" "r.(?)" "p.(Arg1763Trp)" "" "0000311062" "00022146" "10" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Asp227=)" "" "0000312879" "00022146" "10" "24" "0" "24" "0" "c.24C>T" "r.(?)" "p.(Phe8=)" "" "0000312880" "00022146" "10" "4129" "0" "4129" "0" "c.4129A>G" "r.(?)" "p.(Thr1377Ala)" "" "0000312881" "00022146" "10" "4861" "0" "4861" "0" "c.4861=" "r.(=)" "p.(Leu1621=)" "" "0000319105" "00022146" "30" "1251" "0" "1251" "0" "c.1251C>T" "r.(?)" "p.(Pro417=)" "" "0000319106" "00022146" "30" "1291" "-6" "1291" "-6" "c.1291-6C>T" "r.(=)" "p.(=)" "" "0000319107" "00022146" "30" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Ala548Thr)" "" "0000319108" "00022146" "50" "1691" "0" "1691" "0" "c.1691G>A" "r.(?)" "p.(Arg564Gln)" "" "0000319109" "00022146" "30" "2724" "0" "2724" "0" "c.2724G>A" "r.(?)" "p.(Pro908=)" "" "0000319110" "00022146" "50" "2731" "0" "2731" "0" "c.2731C>T" "r.(?)" "p.(Gln911Ter)" "" "0000319111" "00022146" "30" "2795" "0" "2795" "0" "c.2795C>T" "r.(?)" "p.(Ser932Leu)" "" "0000319112" "00022146" "30" "2991" "0" "2991" "0" "c.2991C>T" "r.(?)" "p.(Ser997=)" "" "0000319113" "00022146" "50" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Glu1065Lys)" "" "0000319114" "00022146" "30" "3459" "0" "3459" "0" "c.3459C>T" "r.(?)" "p.(Pro1153=)" "" "0000319115" "00022146" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Ser1165=)" "" "0000319116" "00022146" "30" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Ser1230=)" "" "0000319117" "00022146" "30" "3732" "0" "3732" "0" "c.3732C>T" "r.(?)" "p.(His1244=)" "" "0000319118" "00022146" "30" "3741" "0" "3741" "0" "c.3741C>T" "r.(?)" "p.(Asp1247=)" "" "0000319119" "00022146" "30" "4226" "0" "4226" "0" "c.4226C>T" "r.(?)" "p.(Ala1409Val)" "" "0000319120" "00022146" "10" "4317" "0" "4317" "0" "c.4317C>A" "r.(?)" "p.(Ser1439=)" "" "0000319121" "00022146" "30" "4863" "0" "4863" "0" "c.4863G>A" "r.(?)" "p.(Leu1621=)" "" "0000319122" "00022146" "30" "4899" "0" "4899" "0" "c.4899G>A" "r.(?)" "p.(Gln1633=)" "" "0000319123" "00022146" "30" "5139" "0" "5139" "0" "c.5139C>T" "r.(?)" "p.(His1713=)" "" "0000319124" "00022146" "50" "655" "0" "655" "0" "c.655G>T" "r.(?)" "p.(Val219Leu)" "" "0000319125" "00022146" "30" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Arg30Gln)" "" "0000347202" "00022146" "50" "1529" "0" "1529" "0" "c.1529T>G" "r.(?)" "p.(Leu510Arg)" "" "0000572313" "00022146" "30" "5369" "-7" "5369" "-7" "c.5369-7dup" "r.(=)" "p.(=)" "" "0000572314" "00022146" "30" "5369" "-7" "5369" "-7" "c.5369-7dup" "r.(=)" "p.(=)" "" "0000572316" "00022146" "30" "5050" "0" "5050" "0" "c.5050A>G" "r.(?)" "p.(Ile1684Val)" "" "0000572317" "00022146" "30" "4863" "0" "4863" "0" "c.4863G>A" "r.(?)" "p.(Leu1621=)" "" "0000572318" "00022146" "10" "4821" "20" "4821" "20" "c.4821+20G>A" "r.(=)" "p.(=)" "" "0000572319" "00022146" "30" "4512" "0" "4512" "0" "c.4512C>T" "r.(?)" "p.(Val1504=)" "" "0000572320" "00022146" "50" "4436" "0" "4436" "0" "c.4436C>T" "r.(?)" "p.(Thr1479Met)" "" "0000572321" "00022146" "10" "4398" "0" "4398" "0" "c.4398C>T" "r.(?)" "p.(Ala1466=)" "" "0000572322" "00022146" "30" "4398" "0" "4398" "0" "c.4398C>T" "r.(?)" "p.(Ala1466=)" "" "0000572324" "00022146" "30" "4347" "0" "4347" "0" "c.4347C>T" "r.(?)" "p.(Pro1449=)" "" "0000572325" "00022146" "30" "3694" "0" "3694" "0" "c.3694G>A" "r.(?)" "p.(Val1232Met)" "" "0000572326" "00022146" "30" "3540" "0" "3540" "0" "c.3540C>T" "r.(?)" "p.(Pro1180=)" "" "0000572327" "00022146" "30" "3489" "0" "3489" "0" "c.3489C>T" "r.(?)" "p.(His1163=)" "" "0000572328" "00022146" "30" "3288" "0" "3288" "0" "c.3288T>G" "r.(?)" "p.(Asp1096Glu)" "" "0000572330" "00022146" "30" "3043" "0" "3043" "0" "c.3043G>A" "r.(?)" "p.(Glu1015Lys)" "" "0000572332" "00022146" "30" "2604" "0" "2604" "0" "c.2604C>T" "r.(?)" "p.(Pro868=)" "" "0000572334" "00022146" "30" "2321" "0" "2321" "0" "c.2321G>A" "r.(?)" "p.(Arg774Gln)" "" "0000572335" "00022146" "10" "2066" "-11" "2066" "-11" "c.2066-11T>C" "r.(=)" "p.(=)" "" "0000572336" "00022146" "50" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Val447Ile)" "" "0000572337" "00022146" "30" "1047" "0" "1047" "0" "c.1047G>A" "r.(?)" "p.(Glu349=)" "" "0000572338" "00022146" "30" "905" "13" "905" "13" "c.905+13C>G" "r.(=)" "p.(=)" "" "0000572339" "00022146" "30" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Ala286Thr)" "" "0000572340" "00022146" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Pro250Leu)" "" "0000572341" "00022146" "50" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Asp112Gly)" "" "0000572342" "00022146" "30" "161" "0" "161" "0" "c.161C>G" "r.(?)" "p.(Thr54Ser)" "" "0000572344" "00022146" "30" "-4713" "0" "-4713" "0" "c.-4713C>T" "r.(?)" "p.(=)" "" "0000618639" "00022146" "30" "4521" "0" "4521" "0" "c.4521C>T" "r.(?)" "p.(Phe1507=)" "" "0000624323" "00022146" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Val447=)" "" "0000629451" "00022146" "90" "2066" "-6" "2066" "-6" "c.2066-6A>G" "r.2065_2066ins2066-5_2066-1" "p.Asp689Valfs*2" "" "0000651012" "00022146" "50" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Glu1065Lys)" "" "0000651013" "00022146" "50" "245" "0" "245" "0" "c.245T>G" "r.(?)" "p.(Leu82Arg)" "" "0000658978" "00022146" "30" "5259" "0" "5259" "0" "c.5259C>G" "r.(?)" "p.(Ser1753=)" "" "0000658979" "00022146" "30" "2490" "0" "2490" "0" "c.2490G>C" "r.(?)" "p.(Thr830=)" "" "0000658980" "00022146" "50" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Leu287Phe)" "" "0000681922" "00022146" "30" "4557" "0" "4557" "0" "c.4557A>G" "r.(?)" "p.(Ala1519=)" "" "0000681923" "00022146" "30" "4102" "0" "4102" "0" "c.4102G>A" "r.(?)" "p.(Glu1368Lys)" "" "0000681924" "00022146" "30" "3197" "0" "3197" "0" "c.3197A>T" "r.(?)" "p.(Asn1066Ile)" "" "0000681925" "00022146" "30" "2202" "0" "2202" "0" "c.2202C>T" "r.(?)" "p.(Tyr734=)" "" "0000681926" "00022146" "30" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(His590=)" "" "0000681927" "00022146" "50" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Glu530Lys)" "" "0000681928" "00022146" "30" "307" "0" "307" "0" "c.307C>A" "r.(?)" "p.(Pro103Thr)" "" "0000693212" "00022146" "50" "4481" "0" "4481" "0" "c.4481C>G" "r.(?)" "p.(Ala1494Gly)" "" "0000693213" "00022146" "50" "3727" "0" "3727" "0" "c.3727G>A" "r.(?)" "p.(Gly1243Arg)" "" "0000698222" "00022146" "70" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Glu530Lys)" "" "0000698223" "00022146" "70" "5389" "0" "5390" "0" "c.5389_5390insACTTGGG" "r.(?)" "p.(Arg1797Hisfs*36)" "" "0000728209" "00022146" "50" "5288" "0" "5288" "0" "c.5288G>A" "r.(?)" "p.(Arg1763Gln)" "" "0000728210" "00022146" "50" "4520" "0" "4520" "0" "c.4520T>A" "r.(?)" "p.(Phe1507Tyr)" "" "0000728211" "00022146" "70" "4403" "0" "4403" "0" "c.4403del" "r.(?)" "p.(Asp1468ValfsTer7)" "" "0000728212" "00022146" "50" "4111" "0" "4111" "0" "c.4111C>T" "r.(?)" "p.(Pro1371Ser)" "" "0000728213" "00022146" "50" "3507" "0" "3507" "0" "c.3507C>G" "r.(?)" "p.(Ile1169Met)" "" "0000728214" "00022146" "30" "2487" "0" "2487" "0" "c.2487C>G" "r.(?)" "p.(Val829=)" "" "0000728215" "00022146" "50" "2090" "0" "2090" "0" "c.2090C>T" "r.(?)" "p.(Ala697Val)" "" "0000728216" "00022146" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Thr497=)" "" "0000728217" "00022146" "30" "1062" "0" "1062" "0" "c.1062A>G" "r.(?)" "p.(Lys354=)" "" "0000728218" "00022146" "30" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Ala14=)" "" "0000787424" "00022146" "50" "3139" "0" "3139" "0" "c.3139C>T" "r.(?)" "p.(Arg1047Trp)" "16" "0000787425" "00022146" "50" "4697" "0" "4697" "0" "c.4697T>G" "r.(?)" "p.(Leu1566Arg)" "21" "0000787617" "00022146" "50" "5140" "0" "5140" "0" "c.5140G>A" "r.(?)" "p.(Ala1714Thr)" "23" "0000787618" "00022146" "50" "4890" "0" "4890" "0" "c.4890C>A" "r.(?)" "p.(Phe1630Leu)" "22" "0000809667" "00022146" "30" "4316" "-7" "4316" "-7" "c.4316-7C>T" "r.(=)" "p.(=)" "" "0000809668" "00022146" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Cys)" "" "0000809669" "00022146" "50" "1904" "0" "1904" "0" "c.1904A>T" "r.(?)" "p.(Glu635Val)" "" "0000809670" "00022146" "70" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Arg564*)" "" "0000809671" "00022146" "30" "1674" "0" "1674" "0" "c.1674C>T" "r.(?)" "p.(His558=)" "" "0000811803" "00022146" "70" "2066" "-6" "2066" "-6" "c.2066-6A>G" "r.2065_2066ins2066-1_2066-5" "p.(Asp689Valfs*2)" "" "0000811804" "00022146" "70" "2066" "-6" "2066" "-6" "c.2066-6A>G" "r.2065_2066ins2066-1_2066-5" "p.(Asp689Valfs*2)" "" "0000811805" "00022146" "70" "4485" "-21" "4485" "-21" "c.4485-21A>C" "r.spl" "p.(?)" "" "0000811806" "00022146" "70" "4485" "-21" "4485" "-21" "c.4485-21A>C" "r.spl" "p.(?)" "" "0000830192" "00022146" "90" "1955" "0" "1955" "0" "c.1955G>A" "r.(?)" "p.(Arg652His)" "" "0000847522" "00022146" "70" "5458" "0" "5458" "0" "c.5458T>G" "r.(?)" "p.(Ter1820GlyextTer?)" "" "0000856196" "00022146" "30" "4974" "0" "4974" "0" "c.4974C>T" "r.(?)" "p.(Ala1658=)" "" "0000856197" "00022146" "30" "2487" "0" "2487" "0" "c.2487C>G" "r.(?)" "p.(Val829=)" "" "0000856198" "00022146" "50" "2443" "0" "2443" "0" "c.2443C>T" "r.(?)" "p.(Pro815Ser)" "" "0000856199" "00022146" "30" "1833" "8" "1833" "8" "c.1833+8G>A" "r.(=)" "p.(=)" "" "0000856200" "00022146" "50" "299" "0" "299" "0" "c.299C>G" "r.(?)" "p.(Pro100Arg)" "" "0000866891" "00022146" "30" "4929" "0" "4929" "0" "c.4929C>T" "r.(?)" "p.(Asp1643=)" "" "0000866892" "00022146" "30" "4479" "0" "4479" "0" "c.4479C>T" "r.(?)" "p.(Ala1493=)" "" "0000866893" "00022146" "30" "4221" "0" "4221" "0" "c.4221G>A" "r.(?)" "p.(Ser1407=)" "" "0000866894" "00022146" "30" "4109" "-16" "4109" "-16" "c.4109-16A>G" "r.(=)" "p.(=)" "" "0000866895" "00022146" "30" "3706" "0" "3706" "0" "c.3706C>T" "r.(?)" "p.(Arg1236Trp)" "" "0000866896" "00022146" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Leu312=)" "" "0000866897" "00022146" "50" "885" "0" "885" "0" "c.885G>T" "r.(?)" "p.(Arg295Ser)" "" "0000895792" "00022146" "30" "5380" "0" "5380" "0" "c.5380C>T" "r.(?)" "p.(Leu1794=)" "" "0000895793" "00022146" "30" "5052" "0" "5052" "0" "c.5052C>T" "r.(?)" "p.(Ile1684=)" "" "0000895794" "00022146" "30" "4954" "20" "4954" "20" "c.4954+20C>T" "r.(=)" "p.(=)" "" "0000895795" "00022146" "30" "3240" "0" "3240" "0" "c.3240C>T" "r.(?)" "p.(His1080=)" "" "0000895796" "00022146" "30" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Ile673=)" "" "0000895797" "00022146" "30" "1693" "19" "1693" "19" "c.1693+19C>T" "r.(=)" "p.(=)" "" "0000895798" "00022146" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Val228=)" "" "0000895799" "00022146" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Glu13=)" "" "0000899415" "00022146" "70" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(His1055Tyr)" "" "0000899416" "00022146" "70" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(His1055Tyr)" "" "0000899418" "00022146" "70" "3565" "0" "3565" "0" "c.3565G>T" "r.(?)" "p.(Gly1189*)" "" "0000899419" "00022146" "70" "3565" "0" "3565" "0" "c.3565G>T" "r.(?)" "p.(Gly1189*)" "" "0000927224" "00022146" "30" "1492" "-16" "1492" "-16" "c.1492-16C>G" "r.(=)" "p.(=)" "" "0000951632" "00022146" "30" "4822" "-16" "4822" "-16" "c.4822-16C>T" "r.(=)" "p.(=)" "" "0000951633" "00022146" "30" "3606" "0" "3606" "0" "c.3606G>T" "r.(?)" "p.(=)" "" "0000951634" "00022146" "30" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(=)" "" "0000970525" "00022146" "30" "5013" "0" "5013" "0" "c.5013C>T" "r.(?)" "p.(=)" "" "0000970527" "00022146" "30" "4182" "0" "4182" "0" "c.4182C>T" "r.(?)" "p.(=)" "" "0000970528" "00022146" "30" "2270" "12" "2270" "12" "c.2270+12C>T" "r.(=)" "p.(=)" "" "0000970529" "00022146" "30" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.(=)" "" "0000970530" "00022146" "30" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(=)" "" "0000970531" "00022146" "30" "1443" "0" "1443" "0" "c.1443T>C" "r.(?)" "p.(=)" "" "0000970532" "00022146" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(=)" "" "0000970533" "00022146" "30" "161" "0" "161" "0" "c.161C>G" "r.(?)" "p.(Thr54Ser)" "" "0000984306" "00022146" "50" "5431" "0" "5431" "0" "c.5431A>T" "r.(?)" "p.(Asn1811Tyr)" "" "0000984307" "00022146" "30" "5181" "0" "5181" "0" "c.5181G>A" "r.(?)" "p.(Thr1727=)" "" "0000984308" "00022146" "30" "4955" "-16" "4955" "-10" "c.4955-16_4955-10del" "r.(=)" "p.(=)" "" "0000984309" "00022146" "50" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Cys)" "" "0001006244" "00022146" "70" "3393" "0" "3393" "0" "c.3393G>A" "r.(?)" "p.(Trp1131*)" "" "0001006245" "00022146" "30" "3289" "0" "3289" "0" "c.3289G>A" "r.(?)" "p.(Val1097Met)" "" "0001006246" "00022146" "90" "2066" "-6" "2066" "-6" "c.2066-6A>G" "r.(=)" "p.(=)" "" "0001043946" "00022146" "30" "6137" "0" "6137" "0" "c.*677C>T" "r.(=)" "p.(=)" "" "0001043947" "00022146" "50" "5446" "0" "5448" "0" "c.5446_5448del" "r.(?)" "p.(Tyr1816del)" "" "0001043948" "00022146" "50" "4193" "0" "4193" "0" "c.4193C>T" "r.(?)" "p.(Pro1398Leu)" "" "0001043949" "00022146" "30" "929" "0" "929" "0" "c.929C>G" "r.(?)" "p.(Pro310Arg)" "" "0001043950" "00022146" "50" "885" "0" "885" "0" "c.885G>T" "r.(?)" "p.(Arg295Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000017582" "0000037591" "0000050373" "0000079353" "0000147416" "0000240213" "0000275446" "0000629451" "0000294323" "0000651012" "0000294324" "0000651013" "0000316065" "0000698222" "0000316065" "0000698223" "0000376073" "0000787424" "0000376073" "0000787617" "0000376074" "0000787425" "0000376074" "0000787618" "0000384964" "0000811803" "0000384964" "0000811804" "0000384965" "0000811805" "0000384965" "0000811806" "0000397952" "0000830192" "0000410246" "0000847522" "0000423669" "0000899415" "0000423669" "0000899418" "0000423670" "0000899416" "0000423670" "0000899419"