### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUBB8) # 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}}" "TUBB8" "tubulin, beta 8 class VIII" "10" "p15.3" "unknown" "NG_046777.1" "UD_132319281558" "" "https://www.LOVD.nl/TUBB8" "" "1" "20773" "347688" "616768" "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/TUBB8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-23 17:00:56" "00006" "2025-04-10 10:28:03" ## 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}}" "00022136" "TUBB8" "tubulin, beta 8, transcript variant 1" "001" "NM_177987.2" "" "NP_817124.1" "" "" "" "1" "1504" "1335" "95178" "92828" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05372" "OZEMA2;OOMD" "ocyte/zygote/embryo maturation arrest, type 2" "AD;AR" "616780" "" "" "" "00006" "2017-12-29 16:12:22" "00006" "2024-11-08 11:48:51" "05450" "OZEMA;OOMD" "ocyte/zygote/embryo maturation arrest" "" "" "" "" "" "00006" "2018-07-09 09:38:13" "00006" "2024-11-08 11:43:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TUBB8" "05372" "TUBB8" "05450" ## Individuals ## Do not remove or alter this header ## ## Count = 66 "{{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}}" "00168068" "" "" "" "5" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "4-generation family, 5 affecteds (5F)" "F" "no" "China" "" "0" "" "" "Han Chinese" "Familiy 1" "00168080" "" "" "" "3" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "3-generation family, 3 affected (3F)" "F" "no" "China" "" "0" "" "" "Han Chinese" "Family 2" "00168081" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 3" "00168082" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "?" "China" "" "0" "" "" "" "Family 4" "00168083" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 5" "00168084" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "3-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 6" "00168086" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 8" "00168087" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "?" "China" "" "0" "" "" "" "Family 9" "00168088" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "?" "China" "" "0" "" "" "" "Family 7" "00168089" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "yes" "China" "" "0" "" "" "" "Family 10" "00168090" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 11" "00168091" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 12" "00168092" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 13" "00168094" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 14" "00168095" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 15" "00168096" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 16" "00168097" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Family 17" "00168098" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "Han Chinese" "Family 18" "00168099" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "Han Chinese" "Family 19" "00168100" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "Han Chinese" "Family 20" "00168101" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "Han Chinese" "Family 21" "00168102" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "no" "China" "" "0" "" "" "Han Chinese" "Family 22" "00168103" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "Han Chinese" "Family 23" "00168104" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "" "" "0" "" "" "" "Family 24" "00168105" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "" "Family 25" "00168106" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "" "Family 26" "00168107" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "Han Chinese" "Family 27" "00168108" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "" "Family 28" "00168109" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "" "Family 29" "00168110" "" "" "" "1" "" "02535" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "F" "" "China" "" "0" "" "" "" "Family 30" "00296618" "" "" "" "5" "" "00006" "{PMID:Feng 2016:26789871}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam1PatIII5" "00296619" "" "" "" "2" "" "00006" "{PMID:Feng 2016:26789871}" "2-generation family, 2 affected (2F)" "F" "" "China" "" "0" "" "" "" "Fam2PatII2" "00296620" "" "" "" "1" "" "00006" "{PMID:Feng 2016:26789871}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam3" "00296621" "" "" "" "1" "" "00006" "{PMID:Feng 2016:26789871}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam4" "00296622" "" "" "" "1" "" "00006" "{PMID:Feng 2016:26789871}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam5" "00296623" "" "" "" "1" "" "00006" "{PMID:Feng 2016:26789871}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam6" "00296624" "" "" "" "1" "" "00006" "{PMID:Feng 2016:26789871}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam7" "00296625" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam1" "00296626" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam2" "00296627" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam3" "00296628" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam4" "00296629" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam5" "00296630" "" "" "" "2" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam6" "00296631" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam7" "00296632" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 2 affected (2F)" "F" "" "China" "" "0" "" "" "" "Fam8" "00296633" "" "" "" "1" "" "00006" "{PMID:Feng 2016:27273344}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam9" "00296634" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam1" "00296635" "" "" "" "2" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 2 affected (2F)" "F" "" "China" "" "0" "" "" "" "Fam2" "00296636" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam3" "00296637" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam4" "00296638" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam5" "00296639" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam6" "00296640" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam7" "00296641" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam8" "00296642" "" "" "" "1" "" "00006" "{PMID:Chen 2017:27989988}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam9" "00296643" "" "" "" "1" "" "00006" "{PMID:Huang 2017:28652098}" "3-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam1" "00296644" "" "" "" "1" "" "00006" "{PMID:Huang 2017:28652098}" "3-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam2" "00296645" "" "" "" "1" "" "00006" "{PMID:Huang 2017:28652098}" "2-generation family, 1 affected female" "F" "" "China" "" "0" "" "" "" "Fam3" "00296646" "" "" "" "1" "" "00006" "{PMID:Yuan 2018:29704226}" "2-generation family, 1 affected" "F" "no" "China" "" "0" "" "" "" "Pat1" "00296647" "" "" "" "1" "" "00006" "{PMID:Xiang 2018:29877102}" "2-generation family, 2 affected sisters, unaffected non-carrier mother" "F" "no" "China" "" "0" "" "" "" "Fam" "00296648" "" "" "" "1" "" "00006" "{PMID:Wang 2018:29671363}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "China" "" "0" "" "" "" "Fam" "00296649" "" "" "" "1" "" "00006" "{PMID:Lanuza-Lopez 2020:32063091}" "4-generation family, 3 affected sisters" "F" "" "Mexico" "" "0" "" "" "" "Fam1" "00296651" "" "" "" "1" "" "00006" "{PMID:Lanuza-Lopez 2020:32063091}" "2-generation family, 1 affected" "F" "" "Mexico" "" "0" "" "" "" "Fam2" "00296653" "" "" "" "1" "" "00006" "{PMID:Lanuza-Lopez 2020:32063091}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "" "Mexico" "" "0" "" "" "" "Fam3" "00464628" "" "" "" "2" "" "00764" "" "2-generation family, 2 affected sisters; sister (ID:00464630) has primary infertility and recurrent ICSI failure." "F" "yes" "Egypt" "" "0" "" "" "" "2246_Case1" "00464630" "" "" "00464628" "1" "" "00764" "" "sister (ID:00464628) has seven years of primary infertility, normal karyotype, and recurrent failed ICSI." "F" "yes" "Egypt" "" "0" "" "" "" "2250_Case1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00168068" "05450" "00168080" "05450" "00168081" "05450" "00168082" "05450" "00168083" "05450" "00168084" "05450" "00168086" "05450" "00168087" "05450" "00168088" "05450" "00168089" "05450" "00168090" "05450" "00168091" "05450" "00168092" "05450" "00168094" "05450" "00168095" "05450" "00168096" "05450" "00168097" "05450" "00168098" "05450" "00168099" "05450" "00168100" "05450" "00168101" "05450" "00168102" "05450" "00168103" "05450" "00168104" "05450" "00168105" "05450" "00168106" "05450" "00168107" "05450" "00168108" "05450" "00168109" "05450" "00168110" "05450" "00296618" "05370" "00296619" "05370" "00296620" "05370" "00296621" "05370" "00296622" "05370" "00296623" "05370" "00296624" "05370" "00296625" "05370" "00296626" "05370" "00296627" "05370" "00296628" "05370" "00296629" "05370" "00296630" "05370" "00296631" "05370" "00296632" "05370" "00296633" "05370" "00296634" "05370" "00296635" "05370" "00296636" "05370" "00296637" "05370" "00296638" "05370" "00296639" "05370" "00296640" "05370" "00296641" "05370" "00296642" "05370" "00296643" "05370" "00296644" "05370" "00296645" "05370" "00296646" "05370" "00296647" "05370" "00296648" "05370" "00296649" "05370" "00296651" "05370" "00296653" "05370" "00464628" "05370" "00464630" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05370, 05372, 05450 ## Count = 69 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000132933" "05450" "00168068" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132944" "05450" "00168080" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132945" "05450" "00168081" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132946" "05450" "00168082" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132947" "05450" "00168083" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132948" "05450" "00168084" "02535" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000132950" "05450" "00168086" "02535" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000132951" "05450" "00168087" "02535" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000132952" "05450" "00168088" "02535" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000132953" "05450" "00168089" "02535" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000132954" "05450" "00168090" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132955" "05450" "00168091" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132956" "05450" "00168092" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132958" "05450" "00168094" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132959" "05450" "00168095" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132960" "05450" "00168095" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132961" "05450" "00168095" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132962" "05450" "00168096" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132963" "05450" "00168097" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132964" "05450" "00168098" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132965" "05450" "00168099" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132966" "05450" "00168100" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132967" "05450" "00168101" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132968" "05450" "00168102" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132969" "05450" "00168103" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132970" "05450" "00168104" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132971" "05450" "00168105" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132972" "05450" "00168106" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132973" "05450" "00168107" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132974" "05450" "00168108" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132975" "05450" "00168108" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132976" "05450" "00168109" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000132977" "05450" "00168110" "02535" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "0000224025" "05370" "00296618" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224026" "05370" "00296619" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224027" "05370" "00296620" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224028" "05370" "00296621" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224029" "05370" "00296622" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224030" "05370" "00296623" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224031" "05370" "00296624" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224032" "05370" "00296625" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224033" "05370" "00296626" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224034" "05370" "00296627" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224035" "05370" "00296628" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224036" "05370" "00296629" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224037" "05370" "00296630" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224038" "05370" "00296631" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224039" "05370" "00296632" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224040" "05370" "00296633" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224041" "05370" "00296634" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224042" "05370" "00296635" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224043" "05370" "00296636" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224044" "05370" "00296637" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224045" "05370" "00296638" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224046" "05370" "00296639" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224047" "05370" "00296640" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224048" "05370" "00296641" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224049" "05370" "00296642" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224050" "05370" "00296643" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224051" "05370" "00296644" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224052" "05370" "00296645" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224053" "05370" "00296646" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224054" "05370" "00296647" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224055" "05370" "00296648" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224056" "05370" "00296649" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224058" "05370" "00296651" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000224060" "05370" "00296653" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD2" "female infertility" "0000350619" "05895" "00464628" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "Female infertility (HP:0008222)" "" "0000350620" "05370" "00464630" "00764" "Familial, autosomal recessive" "" "Female infertility (HP:0008222)" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 66 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000168940" "00168068" "1" "02535" "02535" "2018-07-19 13:56:42" "" "" "PCR;SEQ" "DNA" "" "" "0000168953" "00168080" "1" "02535" "02535" "2018-07-20 04:59:16" "" "" "PCR;SEQ" "DNA" "" "" "0000168954" "00168081" "1" "02535" "02535" "2018-07-20 05:02:42" "" "" "PCR;SEQ" "DNA" "" "" "0000168955" "00168082" "1" "02535" "02535" "2018-07-20 05:06:30" "" "" "PCR;SEQ" "DNA" "" "" "0000168956" "00168083" "1" "02535" "02535" "2018-07-20 05:15:08" "" "" "PCR;SEQ" "DNA" "" "" "0000168957" "00168084" "1" "02535" "02535" "2018-07-20 05:18:12" "" "" "PCR;SEQ" "DNA" "" "" "0000168959" "00168086" "1" "02535" "02535" "2018-07-20 05:33:43" "" "" "PCR;SEQ" "DNA" "" "" "0000168960" "00168087" "1" "02535" "02535" "2018-07-20 05:38:32" "" "" "PCR;SEQ" "DNA" "" "" "0000168961" "00168088" "1" "02535" "02535" "2018-07-20 05:45:03" "" "" "PCR;SEQ" "DNA" "" "" "0000168962" "00168089" "1" "02535" "02535" "2018-07-20 05:49:35" "" "" "PCR;SEQ" "DNA" "" "" "0000168963" "00168090" "1" "02535" "02535" "2018-07-20 05:52:46" "" "" "PCR;SEQ" "DNA" "" "" "0000168964" "00168091" "1" "02535" "02535" "2018-07-20 05:55:44" "" "" "PCR;SEQ" "DNA" "" "" "0000168965" "00168092" "1" "02535" "02535" "2018-07-20 06:00:08" "" "" "PCR;SEQ" "DNA" "" "" "0000168966" "00168094" "1" "02535" "02535" "2018-07-20 06:19:46" "" "" "PCR;SEQ" "DNA" "" "" "0000168967" "00168095" "1" "02535" "02535" "2018-07-20 06:23:56" "" "" "PCR;SEQ" "DNA" "" "" "0000168968" "00168096" "1" "02535" "02535" "2018-07-20 06:26:49" "" "" "PCR;SEQ" "DNA" "" "" "0000168969" "00168097" "1" "02535" "02535" "2018-07-20 06:30:05" "" "" "PCR;SEQ" "DNA" "" "" "0000168970" "00168098" "1" "02535" "02535" "2018-07-20 06:54:32" "" "" "PCR;SEQ" "DNA" "" "" "0000168971" "00168099" "1" "02535" "02535" "2018-07-20 06:57:55" "" "" "PCR;SEQ" "DNA" "" "" "0000168972" "00168100" "1" "02535" "02535" "2018-07-20 07:01:06" "" "" "PCR;SEQ" "DNA" "" "" "0000168973" "00168101" "1" "02535" "02535" "2018-07-20 07:04:10" "" "" "PCR" "DNA" "" "" "0000168974" "00168102" "1" "02535" "02535" "2018-07-20 07:07:23" "" "" "PCR;SEQ" "DNA" "" "" "0000168975" "00168103" "1" "02535" "02535" "2018-07-20 07:11:30" "" "" "PCR;SEQ" "DNA" "" "" "0000168976" "00168104" "1" "02535" "02535" "2018-07-20 07:14:24" "" "" "PCR;SEQ" "DNA" "" "" "0000168977" "00168105" "1" "02535" "02535" "2018-07-20 07:17:50" "" "" "PCR;SEQ" "DNA" "" "" "0000168978" "00168106" "1" "02535" "02535" "2018-07-20 07:24:57" "" "" "PCR;SEQ" "DNA" "" "" "0000168979" "00168107" "1" "02535" "02535" "2018-07-20 07:27:44" "" "" "PCR;SEQ" "DNA" "" "" "0000168980" "00168108" "1" "02535" "02535" "2018-07-20 07:30:26" "" "" "PCR;SEQ" "DNA" "" "" "0000168981" "00168109" "1" "02535" "02535" "2018-07-20 07:33:02" "" "" "PCR;SEQ" "DNA" "" "" "0000168982" "00168110" "1" "02535" "02535" "2018-07-20 07:36:00" "" "" "PCR;SEQ" "DNA" "" "" "0000297728" "00296618" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297729" "00296619" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297730" "00296620" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297731" "00296621" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297732" "00296622" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297733" "00296623" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297734" "00296624" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000297735" "00296625" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297736" "00296626" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297737" "00296627" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297738" "00296628" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297739" "00296629" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297740" "00296630" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297741" "00296631" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297742" "00296632" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297743" "00296633" "1" "00006" "00006" "2020-04-08 19:13:50" "" "" "SEQ" "DNA" "" "" "0000297744" "00296634" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297745" "00296635" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297746" "00296636" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297747" "00296637" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297748" "00296638" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297749" "00296639" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297750" "00296640" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297751" "00296641" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297752" "00296642" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297753" "00296643" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297754" "00296644" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297755" "00296645" "1" "00006" "00006" "2020-04-08 19:44:50" "" "" "SEQ" "DNA" "" "" "0000297756" "00296646" "1" "00006" "00006" "2020-04-09 08:33:19" "" "" "SEQ" "DNA" "" "" "0000297757" "00296647" "1" "00006" "00006" "2020-04-09 08:37:59" "" "" "SEQ" "DNA" "" "" "0000297758" "00296648" "1" "00006" "00006" "2020-04-09 08:42:55" "" "" "SEQ" "DNA" "" "" "0000297759" "00296649" "1" "00006" "00006" "2020-04-09 09:06:53" "" "" "SEQ-NG" "DNA" "" "WES" "0000297761" "00296651" "1" "00006" "00006" "2020-04-09 09:12:35" "" "" "SEQ-NG" "DNA" "" "WES" "0000297763" "00296653" "1" "00006" "00006" "2020-04-09 09:16:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000466274" "00464628" "1" "00764" "00764" "2025-04-04 16:41:43" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "" "0000466276" "00464630" "1" "00764" "00764" "2025-04-04 18:31:27" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000297728" "TUBB8" "0000297729" "TUBB8" "0000297730" "TUBB8" "0000297731" "TUBB8" "0000297732" "TUBB8" "0000297733" "TUBB8" "0000297734" "TUBB8" "0000297735" "TUBB8" "0000297736" "TUBB8" "0000297737" "TUBB8" "0000297738" "TUBB8" "0000297739" "TUBB8" "0000297740" "TUBB8" "0000297741" "TUBB8" "0000297742" "TUBB8" "0000297743" "TUBB8" "0000297744" "TUBB8" "0000297745" "TUBB8" "0000297746" "TUBB8" "0000297747" "TUBB8" "0000297748" "TUBB8" "0000297749" "TUBB8" "0000297750" "TUBB8" "0000297751" "TUBB8" "0000297752" "TUBB8" "0000297753" "TUBB8" "0000297754" "TUBB8" "0000297755" "TUBB8" "0000297756" "TUBB8" "0000297757" "TUBB8" "0000297758" "TUBB8" "0000297759" "TUBB8" "0000297761" "TUBB8" "0000297763" "TUBB8" "0000466274" "TUBB8" "0000466276" "TUBB8" ## 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 = 80 "{{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}}" "0000319096" "0" "50" "10" "93948" "93948" "subst" "0" "01943" "TUBB8_000001" "g.93948G>T" "" "" "" "TUBB8(NM_177987.2):c.384C>A (p.D128E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48008G>T" "" "VUS" "" "0000379078" "11" "90" "10" "93569" "93569" "subst" "0" "02535" "TUBB8_000002" "g.93569C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47629C>T" "" "pathogenic (dominant)" "" "0000379089" "11" "90" "10" "93259" "93259" "subst" "0" "02535" "TUBB8_000003" "g.93259G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47319G>A" "" "pathogenic (dominant)" "" "0000379090" "11" "90" "10" "93332" "93332" "subst" "0" "02535" "TUBB8_000015" "g.93332G>C" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47392G>C" "" "pathogenic (dominant)" "" "0000379091" "3" "90" "10" "93449" "93449" "subst" "0" "02535" "TUBB8_000016" "g.93449C>G" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "incomplete penetrance or recessive" "Germline" "" "" "0" "" "" "g.47509C>G" "" "pathogenic (!)" "" "0000379092" "11" "90" "10" "93233" "93233" "subst" "0" "02535" "TUBB8_000011" "g.93233A>G" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47293A>G" "" "pathogenic (dominant)" "" "0000379093" "11" "90" "10" "94010" "94010" "subst" "0" "02535" "TUBB8_000023" "g.94010C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "" "" "0" "" "" "g.48070C>T" "" "pathogenic (dominant)" "" "0000379094" "21" "90" "10" "93911" "93911" "dup" "0" "02535" "TUBB8_000022" "g.93911dup" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "426dupG" "" "Germline" "" "" "0" "" "" "g.47971dup" "" "pathogenic (recessive)" "" "0000379096" "21" "90" "10" "93046" "93046" "subst" "0" "02535" "TUBB8_000005" "g.93046G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "two variants on 1 allele, pathogenicity uncertain" "Germline" "" "" "0" "" "" "g.47106G>A" "" "pathogenic" "" "0000379097" "21" "90" "10" "93018" "93044" "del" "0" "02535" "TUBB8_000004" "g.93018_93044del" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "two variants on 1 allele, pathogenicity uncertain" "Germline" "" "" "0" "" "" "g.47078_47104del" "" "pathogenic" "" "0000379098" "3" "90" "10" "93129" "93129" "dup" "0" "02535" "TUBB8_000009" "g.93129dup" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "1205dupG" "" "Germline" "" "" "0" "" "" "g.47189dup" "" "pathogenic (recessive)" "" "0000379099" "3" "90" "10" "93062" "93062" "subst" "0" "02535" "TUBB8_000006" "g.93062G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "" "" "0" "" "" "g.47122G>A" "" "pathogenic (recessive)" "" "0000379100" "3" "90" "10" "93611" "93611" "subst" "0" "02535" "TUBB8_000019" "g.93611G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline" "" "" "0" "" "" "g.47671G>A" "" "pathogenic (recessive)" "" "0000379101" "0" "90" "10" "93260" "93260" "subst" "0" "02535" "TUBB8_000012" "g.93260G>C" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.47320G>C" "" "pathogenic (dominant)" "" "0000379102" "0" "90" "10" "94040" "94040" "subst" "0" "02535" "TUBB8_000025" "g.94040C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.48100C>T" "" "pathogenic (dominant)" "" "0000379103" "0" "90" "10" "93597" "93597" "subst" "0" "02535" "TUBB8_000017" "g.93597C>G" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.47657C>G" "" "pathogenic (dominant)" "" "0000379104" "0" "90" "10" "93271" "93271" "subst" "0" "02535" "TUBB8_000013" "g.93271C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.47331C>T" "" "pathogenic (dominant)" "" "0000379105" "0" "90" "10" "94651" "94651" "subst" "0" "02535" "TUBB8_000026" "g.94651G>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.48711G>T" "" "pathogenic (dominant)" "" "0000379106" "0" "90" "10" "93259" "93259" "subst" "0" "02535" "TUBB8_000003" "g.93259G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "yes" "" "0" "" "" "g.47319G>A" "" "pathogenic (dominant)" "" "0000379107" "0" "90" "10" "95169" "95169" "subst" "0" "02535" "TUBB8_000027" "g.95169T>G" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.49229T>G" "" "pathogenic (dominant)" "" "0000379108" "0" "90" "10" "93805" "93805" "subst" "0" "02535" "TUBB8_000021" "g.93805G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.47865G>A" "" "pathogenic (dominant)" "" "0000379109" "0" "90" "10" "93610" "93610" "subst" "0" "02535" "TUBB8_000018" "g.93610C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47670C>T" "" "pathogenic (dominant)" "" "0000379110" "0" "90" "10" "93083" "93083" "subst" "0" "02535" "TUBB8_000007" "g.93083C>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47143C>A" "" "pathogenic (dominant)" "" "0000379111" "0" "90" "10" "93809" "93809" "subst" "0" "02535" "TUBB8_000024" "g.93809C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47869C>T" "" "pathogenic (dominant)" "" "0000379112" "0" "90" "10" "93569" "93569" "subst" "0" "02535" "TUBB8_000002" "g.93569C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47629C>T" "" "pathogenic (dominant)" "" "0000379113" "0" "90" "10" "93275" "93275" "subst" "0" "02535" "TUBB8_000014" "g.93275C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47335C>T" "" "pathogenic (dominant)" "" "0000379114" "0" "90" "10" "93732" "93732" "subst" "0" "02535" "TUBB8_000020" "g.93732A>C" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47792A>C" "" "pathogenic (dominant)" "" "0000379115" "0" "90" "10" "93161" "93161" "subst" "0" "02535" "TUBB8_000010" "g.93161G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47221G>A" "" "pathogenic (dominant)" "" "0000379116" "0" "90" "10" "95169" "95169" "subst" "0" "02535" "TUBB8_000027" "g.95169T>G" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49229T>G" "" "pathogenic (dominant)" "" "0000379117" "0" "90" "10" "93805" "93805" "subst" "0" "02535" "TUBB8_000021" "g.93805G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47865G>A" "" "pathogenic (dominant)" "" "0000379118" "0" "90" "10" "93104" "93104" "subst" "0" "02535" "TUBB8_000008" "g.93104C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "De novo" "" "" "0" "" "" "g.47164C>T" "" "pathogenic (dominant)" "" "0000379119" "0" "90" "10" "94040" "94040" "subst" "0" "02535" "TUBB8_000025" "g.94040C>T" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.48100C>T" "" "pathogenic (dominant)" "" "0000379120" "0" "90" "10" "93259" "93259" "subst" "0" "02535" "TUBB8_000003" "g.93259G>A" "1/87 cases" "{PMID:Chen 2019:30297906}, {DOI:Chen2019:10.1038/s41431-018-0283-3}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47319G>A" "" "pathogenic (dominant)" "" "0000541611" "0" "30" "10" "93394" "93394" "subst" "0" "01943" "TUBB8_000028" "g.93394G>A" "" "" "" "TUBB8(NM_177987.2):c.938C>T (p.A313V), TUBB8(NM_177987.3):c.938C>T (p.A313V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47454G>A" "" "likely benign" "" "0000541612" "0" "30" "10" "93416" "93416" "subst" "0" "01943" "TUBB8_000029" "g.93416G>A" "" "" "" "TUBB8(NM_177987.2):c.916C>T (p.R306C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47476G>A" "" "likely benign" "" "0000660388" "11" "90" "10" "93646" "93646" "subst" "0" "00006" "TUBB8_000049" "g.93646A>G" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47706A>G" "" "pathogenic (dominant)" "" "0000660389" "11" "90" "10" "93083" "93083" "subst" "0" "00006" "TUBB8_000039" "g.93083C>T" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47143C>T" "" "pathogenic (dominant)" "" "0000660390" "0" "90" "10" "93805" "93805" "subst" "0" "00006" "TUBB8_000021" "g.93805G>A" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "De novo" "" "" "0" "" "" "g.47865G>A" "" "pathogenic (dominant)" "" "0000660391" "0" "90" "10" "93547" "93547" "subst" "0" "00006" "TUBB8_000046" "g.93547C>T" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "De novo" "" "" "0" "" "" "g.47607C>T" "" "pathogenic (dominant)" "" "0000660392" "11" "90" "10" "93244" "93244" "subst" "0" "00006" "TUBB8_000041" "g.93244A>G" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "Germline" "" "" "0" "" "" "g.47304A>G" "" "pathogenic (dominant)" "" "0000660393" "11" "90" "10" "95174" "95174" "subst" "0" "00006" "TUBB8_000054" "g.95174C>T" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "Germline" "" "" "0" "" "" "g.49234C>T" "" "pathogenic (dominant)" "" "0000660394" "0" "90" "10" "93432" "93432" "subst" "0" "00006" "TUBB8_000044" "g.93432C>T" "1/24 cases" "{PMID:Feng 2016:26789871}" "" "" "" "De novo" "" "" "0" "" "" "g.47492C>T" "" "pathogenic (dominant)" "" "0000660395" "0" "90" "10" "93805" "93805" "subst" "0" "00006" "TUBB8_000021" "g.93805G>A" "" "{PMID:Feng 2016:27273344}" "" "" "" "De novo" "" "" "0" "" "" "g.47865G>A" "" "pathogenic (dominant)" "" "0000660396" "0" "90" "10" "93704" "93704" "subst" "0" "00006" "TUBB8_000050" "g.93704T>C" "" "{PMID:Feng 2016:27273344}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47764T>C" "" "pathogenic (dominant)" "" "0000660397" "11" "90" "10" "93619" "93619" "subst" "0" "00006" "TUBB8_000048" "g.93619G>A" "" "{PMID:Feng 2016:27273344}" "" "" "" "Germline" "" "" "0" "" "" "g.47679G>A" "" "pathogenic (dominant)" "" "0000660398" "0" "90" "10" "93569" "93569" "subst" "0" "00006" "TUBB8_000002" "g.93569C>T" "" "{PMID:Feng 2016:27273344}" "" "" "" "De novo" "" "" "0" "" "" "g.47629C>T" "" "pathogenic (dominant)" "" "0000660399" "0" "90" "10" "93548" "93548" "subst" "0" "00006" "TUBB8_000047" "g.93548G>A" "" "{PMID:Feng 2016:27273344}" "" "" "" "De novo" "" "" "0" "" "" "g.47608G>A" "" "pathogenic (dominant)" "" "0000660400" "0" "90" "10" "93479" "93479" "subst" "0" "00006" "TUBB8_000045" "g.93479T>G" "" "{PMID:Feng 2016:27273344}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47539T>G" "" "pathogenic (dominant)" "" "0000660401" "0" "90" "10" "93289" "93289" "subst" "0" "00006" "TUBB8_000042" "g.93289T>C" "" "{PMID:Feng 2016:27273344}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47349T>C" "" "pathogenic (dominant)" "" "0000660402" "3" "90" "10" "94812" "94832" "del" "0" "00006" "TUBB8_000031" "g.94812_94832del" "" "{PMID:Feng 2016:27273344}" "" "" "" "Germline" "yes" "" "0" "" "" "g.48872_48892del" "" "pathogenic (recessive)" "" "0000660403" "3" "90" "10" "93911" "93911" "dup" "0" "00006" "TUBB8_000022" "g.93911dup" "" "{PMID:Feng 2016:27273344}" "" "c.426_427insG" "" "Germline" "" "" "0" "" "" "g.47971dup" "" "pathogenic" "" "0000660404" "11" "90" "10" "94623" "94623" "subst" "0" "00006" "TUBB8_000052" "g.94623G>A" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline" "" "" "0" "" "" "g.48683G>A" "" "pathogenic (dominant)" "" "0000660405" "11" "90" "10" "93342" "93342" "subst" "0" "00006" "TUBB8_000043" "g.93342C>T" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline" "" "" "0" "" "" "g.47402C>T" "" "pathogenic (dominant)" "" "0000660406" "11" "90" "10" "95169" "95169" "subst" "0" "00006" "TUBB8_000027" "g.95169T>G" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline" "" "" "0" "" "" "g.49229T>G" "" "pathogenic (dominant)" "" "0000660407" "0" "90" "10" "93275" "93275" "subst" "0" "00006" "TUBB8_000014" "g.93275C>T" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47335C>T" "" "pathogenic (dominant)" "" "0000660408" "0" "90" "10" "93719" "93719" "subst" "0" "00006" "TUBB8_000051" "g.93719C>T" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47779C>T" "" "pathogenic (dominant)" "" "0000660409" "0" "90" "10" "93752" "93752" "subst" "0" "00006" "TUBB8_000032" "g.93752C>T" "" "{PMID:Chen 2017:27989988}" "" "" "" "De novo" "" "" "0" "" "" "g.47812C>T" "" "pathogenic (dominant)" "" "0000660410" "0" "90" "10" "95174" "95174" "subst" "0" "00006" "TUBB8_000034" "g.95174C>A" "" "{PMID:Chen 2017:27989988}" "" "" "" "De novo" "" "" "0" "" "" "g.49234C>A" "" "pathogenic (dominant)" "" "0000660411" "11" "90" "10" "95144" "95144" "subst" "0" "00006" "TUBB8_000053" "g.95144C>T" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline" "" "" "0" "" "" "g.49204C>T" "" "pathogenic (dominant)" "" "0000660412" "3" "90" "10" "92828" "95178" "del" "0" "00006" "TUBB8_000035" "g.(?_92828)_(95178_?)del" "" "{PMID:Chen 2017:27989988}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_46888)_(49238_?)del" "" "pathogenic (recessive)" "" "0000660413" "0" "50" "10" "93087" "93087" "subst" "0" "00006" "TUBB8_000040" "g.93087C>T" "" "{PMID:Chen 2017:27989988}" "" "" "" "De novo" "" "" "0" "" "" "g.47147C>T" "" "VUS" "" "0000660414" "11" "90" "10" "93797" "93797" "subst" "0" "00006" "TUBB8_000033" "g.93797C>T" "" "{PMID:Huang 2017:28652098}" "" "" "" "Germline" "" "" "0" "" "" "g.47857C>T" "" "pathogenic (dominant)" "" "0000660415" "11" "90" "10" "93797" "93797" "subst" "0" "00006" "TUBB8_000033" "g.93797C>T" "" "{PMID:Huang 2017:28652098}" "" "" "" "Germline" "" "" "0" "" "" "g.47857C>T" "" "pathogenic (dominant)" "" "0000660416" "11" "90" "10" "95174" "95174" "subst" "0" "00006" "TUBB8_000034" "g.95174C>A" "" "{PMID:Huang 2017:28652098}" "" "" "" "Germline" "" "" "0" "" "" "g.49234C>A" "" "pathogenic (dominant)" "" "0000660417" "3" "90" "10" "94010" "94010" "subst" "0" "00006" "TUBB8_000023" "g.94010C>T" "" "{PMID:Yuan 2018:29704226}" "" "" "parents not available" "Germline" "" "" "0" "" "" "g.48070C>T" "" "pathogenic (recessive)" "" "0000660418" "10" "90" "10" "93278" "93278" "subst" "0" "00006" "TUBB8_000036" "g.93278C>A" "" "{PMID:Xiang 2018:29877102}" "" "" "father not available" "Germline" "yes" "" "0" "" "" "g.47338C>A" "" "pathogenic (dominant)" "" "0000660419" "0" "90" "10" "94040" "94040" "subst" "0" "00006" "TUBB8_000025" "g.94040C>T" "" "{PMID:Wang 2018:29671363}" "" "" "" "De novo" "" "" "0" "" "" "g.48100C>T" "" "pathogenic (dominant)" "" "0000660421" "11" "90" "10" "93597" "93597" "subst" "0" "00006" "TUBB8_000017" "g.93597C>G" "" "{PMID:Lanuza-Lopez 2020:32063091}" "" "" "ACMG PS1, PM2, PP3 and PP4" "Germline" "yes" "" "0" "" "" "g.47657C>G" "{CV-SCV:000965681}" "likely pathogenic (dominant)" "ACMG" "0000660423" "11" "90" "10" "93487" "93487" "subst" "0" "00006" "TUBB8_000037" "g.93487C>G" "" "{PMID:Lanuza-Lopez 2020:32063091}" "" "" "ACMG PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.47547C>G" "{CV-SCV:001146970}" "VUS" "ACMG" "0000660424" "0" "90" "10" "93569" "93569" "subst" "0" "00006" "TUBB8_000002" "g.93569C>T" "" "{PMID:Lanuza-Lopez 2020:32063091}" "" "" "ACMG PS1, PM2, PM6, PP3" "De novo" "" "rs782269374" "0" "" "" "g.47629C>T" "{CV-SCV:000998849}" "likely pathogenic (dominant)" "ACMG" "0000660425" "21" "30" "10" "93603" "93603" "subst" "0" "00006" "TUBB8_000038" "g.93603C>T" "" "{PMID:Lanuza-Lopez 2020:32063091}" "" "" "variant homozygous in mother" "Germline" "" "rs6560827" "0" "" "" "g.47663C>T" "" "likely benign" "" "0000913374" "0" "70" "10" "93938" "93938" "subst" "0" "02329" "TUBB8_000055" "g.93938C>T" "" "" "" "TUBB8(NM_001389619.1):c.178G>A (p.G60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925225" "0" "30" "10" "93394" "93394" "subst" "0" "02325" "TUBB8_000028" "g.93394G>A" "" "" "" "TUBB8(NM_177987.2):c.938C>T (p.A313V), TUBB8(NM_177987.3):c.938C>T (p.A313V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979241" "0" "30" "10" "93930" "93930" "subst" "0" "01804" "TUBB8_000056" "g.93930C>G" "" "" "" "TUBB8(NM_177987.3):c.402G>C (p.(Gln134His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979242" "0" "30" "10" "93943" "93943" "subst" "0" "01804" "TUBB8_000057" "g.93943A>G" "" "" "" "TUBB8(NM_177987.3):c.389T>C (p.(Leu130Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979243" "0" "30" "10" "94004" "94004" "subst" "0" "01804" "TUBB8_000058" "g.94004C>T" "" "" "" "TUBB8(NM_177987.3):c.328G>A (p.(Ala110Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998610" "0" "50" "10" "93076" "93076" "subst" "0" "01804" "TUBB8_000059" "g.93076A>T" "" "" "" "TUBB8(NM_177987.2):c.1256T>A (p.(Val419Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014693" "0" "70" "10" "93797" "93797" "subst" "0" "02329" "TUBB8_000033" "g.93797C>T" "" "" "" "TUBB8(NM_177987.3):c.535G>A (p.V179M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001030198" "3" "70" "10" "93397" "93397" "subst" "0" "00764" "TUBB8_000060" "g.93397G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47457G>A" "" "likely pathogenic (recessive)" "ACMG" "0001030199" "3" "70" "10" "93397" "93397" "subst" "0" "00764" "TUBB8_000060" "g.93397G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.47457G>A" "" "likely pathogenic" "ACMG" ## 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 TUBB8 ## Count = 80 "{{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}}" "0000319096" "00022136" "50" "384" "0" "384" "0" "c.384C>A" "r.(?)" "p.(Asp128Glu)" "" "0000379078" "00022136" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Met)" "4" "0000379089" "00022136" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000379090" "00022136" "90" "1000" "0" "1000" "0" "c.1000C>G" "r.(?)" "p.(Gln334Glu)" "" "0000379091" "00022136" "90" "883" "0" "883" "0" "c.883G>C" "r.(?)" "p.(Asp295His)" "" "0000379092" "00022136" "90" "1099" "0" "1099" "0" "c.1099T>C" "r.(?)" "p.(Phe367Leu)" "" "0000379093" "00022136" "90" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Glu108Lys)" "" "0000379094" "00022136" "90" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Thr143Aspfs*12)" "" "0000379096" "00022136" "90" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Thr429Met)" "" "0000379097" "00022136" "90" "1301" "0" "1327" "0" "c.1301_1327del" "r.(?)" "p.(Glu434_Glu442del)" "" "0000379098" "00022136" "90" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.(Met403Hisfs*3)" "" "0000379099" "00022136" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Gln424*)" "" "0000379100" "00022136" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000379101" "00022136" "90" "1072" "0" "1072" "0" "c.1072C>G" "r.(?)" "p.(Pro358Ala)" "" "0000379102" "00022136" "90" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000379103" "00022136" "90" "735" "0" "735" "0" "c.735G>C" "r.(?)" "p.(Gln245His)" "" "0000379104" "00022136" "90" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Cys354Tyr)" "" "0000379105" "00022136" "90" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Pro61Thr)" "" "0000379106" "00022136" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000379107" "00022136" "90" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Ile4Leu)" "" "0000379108" "00022136" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ser176Leu)" "" "0000379109" "00022136" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000379110" "00022136" "90" "1249" "0" "1249" "0" "c.1249G>T" "r.(?)" "p.(Asp417Tyr)" "" "0000379111" "00022136" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Val175Met)" "" "0000379112" "00022136" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Met)" "" "0000379113" "00022136" "90" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Ile)" "" "0000379114" "00022136" "90" "600" "0" "600" "0" "c.600T>G" "r.(?)" "p.(Phe200Leu)" "" "0000379115" "00022136" "90" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Arg391Cys)" "" "0000379116" "00022136" "90" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Ile4Leu)" "" "0000379117" "00022136" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ser176Leu)" "" "0000379118" "00022136" "90" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Glu410Lys)" "" "0000379119" "00022136" "90" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000379120" "00022136" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Pro358Leu)" "" "0000541611" "00022136" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Ala313Val)" "" "0000541612" "00022136" "30" "916" "0" "916" "0" "c.916C>T" "r.(?)" "p.(Arg306Cys)" "" "0000660388" "00022136" "90" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Val229Ala)" "" "0000660389" "00022136" "90" "1249" "0" "1249" "0" "c.1249G>A" "r.(?)" "p.(Asp417Asn)" "" "0000660390" "00022136" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ser176Leu)" "" "0000660391" "00022136" "90" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Arg262Gln)" "" "0000660392" "00022136" "90" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Met363Thr)" "" "0000660393" "00022136" "90" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Arg2Lys)" "" "0000660394" "00022136" "90" "900" "0" "900" "0" "c.900G>A" "r.(?)" "p.(Met300Ile)" "" "0000660395" "00022136" "90" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ser176Leu)" "" "0000660396" "00022136" "90" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Ile210Val)" "" "0000660397" "00022136" "90" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Thr238Met)" "" "0000660398" "00022136" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Met)" "" "0000660399" "00022136" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262Trp)" "" "0000660400" "00022136" "90" "853" "0" "853" "0" "c.853A>C" "r.(?)" "p.(Thr285Pro)" "" "0000660401" "00022136" "90" "1043" "0" "1043" "0" "c.1043A>G" "r.(?)" "p.(Asn348Ser)" "" "0000660402" "00022136" "90" "80" "0" "100" "0" "c.80_100del" "r.(?)" "p.(Glu27_Ala33del)" "" "0000660403" "00022136" "90" "426" "0" "426" "0" "c.426dup" "r.(?)" "p.(Thr143Aspfs*12)" "" "0000660404" "00022136" "90" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Pro70Leu)" "" "0000660405" "00022136" "90" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Met330Ile)" "" "0000660406" "00022136" "90" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Ile4Leu)" "" "0000660407" "00022136" "90" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Val353Ile)" "" "0000660408" "00022136" "90" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Glu205Lys)" "" "0000660409" "00022136" "90" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0000660410" "00022136" "90" "5" "0" "5" "0" "c.5G>T" "r.(?)" "p.(Arg2Met)" "" "0000660411" "00022136" "90" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Cys12Tyr)" "" "0000660412" "00022136" "90" "1" "0" "1504" "0" "c.(?_1)_(*169_?)del" "r.0" "p.0" "_1_4_" "0000660413" "00022136" "50" "1245" "0" "1245" "0" "c.1245G>A" "r.(?)" "p.(Met415Ile)" "" "0000660414" "00022136" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Val179Met)" "" "0000660415" "00022136" "90" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Val179Met)" "" "0000660416" "00022136" "90" "5" "0" "5" "0" "c.5G>T" "r.(?)" "p.(Arg2Met)" "" "0000660417" "00022136" "90" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Glu108Lys)" "" "0000660418" "00022136" "90" "1054" "0" "1054" "0" "c.1054G>T" "r.(?)" "p.(Ala352Ser)" "" "0000660419" "00022136" "90" "292" "0" "292" "0" "c.292G>A" "r.(?)" "p.(Gly98Arg)" "" "0000660421" "00022136" "90" "735" "0" "735" "0" "c.735G>C" "r.(?)" "p.(Gln245His)" "" "0000660423" "00022136" "90" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Arg282Pro)" "" "0000660424" "00022136" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Met)" "" "0000660425" "00022136" "30" "729" "0" "729" "0" "c.729G>A" "r.(=)" "p.(=)" "" "0000913374" "00022136" "70" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Gly132Ser)" "" "0000925225" "00022136" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Ala313Val)" "" "0000979241" "00022136" "30" "402" "0" "402" "0" "c.402G>C" "r.(?)" "p.(Gln134His)" "" "0000979242" "00022136" "30" "389" "0" "389" "0" "c.389T>C" "r.(?)" "p.(Leu130Pro)" "" "0000979243" "00022136" "30" "328" "0" "328" "0" "c.328G>A" "r.(?)" "p.(Ala110Thr)" "" "0000998610" "00022136" "50" "1256" "0" "1256" "0" "c.1256T>A" "r.(?)" "p.(Val419Glu)" "" "0001014693" "00022136" "70" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Val179Met)" "" "0001030198" "00022136" "70" "935" "0" "935" "0" "c.935C>T" "r.(935C>T)" "p.(Thr312Met)" "" "0001030199" "00022136" "70" "935" "0" "935" "0" "c.935C>T" "r.(935C>T)" "p.(Thr312Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 70 "{{screeningid}}" "{{variantid}}" "0000168940" "0000379078" "0000168953" "0000379089" "0000168954" "0000379090" "0000168955" "0000379091" "0000168956" "0000379092" "0000168957" "0000379093" "0000168957" "0000379094" "0000168959" "0000379096" "0000168959" "0000379097" "0000168960" "0000379098" "0000168961" "0000379099" "0000168962" "0000379100" "0000168963" "0000379101" "0000168964" "0000379102" "0000168965" "0000379103" "0000168966" "0000379104" "0000168967" "0000379105" "0000168968" "0000379106" "0000168969" "0000379107" "0000168970" "0000379108" "0000168971" "0000379109" "0000168972" "0000379110" "0000168973" "0000379111" "0000168974" "0000379112" "0000168975" "0000379113" "0000168976" "0000379114" "0000168977" "0000379115" "0000168978" "0000379116" "0000168979" "0000379117" "0000168980" "0000379118" "0000168981" "0000379119" "0000168982" "0000379120" "0000297728" "0000660388" "0000297729" "0000660389" "0000297730" "0000660390" "0000297731" "0000660391" "0000297732" "0000660392" "0000297733" "0000660393" "0000297734" "0000660394" "0000297735" "0000660395" "0000297736" "0000660396" "0000297737" "0000660397" "0000297738" "0000660398" "0000297739" "0000660399" "0000297740" "0000660400" "0000297741" "0000660401" "0000297742" "0000660402" "0000297743" "0000660403" "0000297744" "0000660404" "0000297745" "0000660405" "0000297746" "0000660406" "0000297747" "0000660407" "0000297748" "0000660408" "0000297749" "0000660409" "0000297749" "0000660413" "0000297750" "0000660410" "0000297751" "0000660411" "0000297752" "0000660412" "0000297753" "0000660414" "0000297754" "0000660415" "0000297755" "0000660416" "0000297756" "0000660417" "0000297757" "0000660418" "0000297758" "0000660419" "0000297759" "0000660421" "0000297759" "0000660425" "0000297761" "0000660423" "0000297763" "0000660424" "0000466274" "0001030198" "0000466276" "0001030199"