### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SOHLH1) # 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}}" "SOHLH1" "spermatogenesis and oogenesis specific basic helix-loop-helix 1" "9" "q34.3" "unknown" "NG_033784.1" "UD_132610901463" "" "https://www.LOVD.nl/SOHLH1" "" "1" "27845" "402381" "610224" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SOHLH1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-19 11:14:06" "00000" "2026-01-20 18:57:21" ## 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}}" "00020015" "SOHLH1" "transcript variant 2" "002" "NM_001012415.2" "" "NP_001012415.2" "" "" "" "-61" "1926" "987" "138591374" "138585253" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "04188" "ODG" "dysgenesis, ovarian (ODG)" "" "" "" "" "" "00006" "2015-02-14 15:50:42" "00006" "2019-08-08 15:42:52" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05856" "ODG5" "dysgenesis, ovarian, type 5 (ODG5)" "AR" "617690" "" "" "" "00006" "2020-10-19 11:11:29" "" "" "05857" "SPGF32" "spermatogenic failure, type 32 (SPGF32)" "AD" "618115" "" "" "" "00006" "2020-10-19 11:13:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "SOHLH1" "04188" "SOHLH1" "05562" "SOHLH1" "05856" "SOHLH1" "05857" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00314810" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314811" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314812" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314813" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314814" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314815" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314816" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "3-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamBPatA101" "00314817" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314818" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314819" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314820" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314821" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314822" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314823" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314824" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314825" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314826" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314827" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314828" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314829" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314830" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "analysis 96 cases nonobstructive azoospermia" "M" "" "Korea" "" "0" "" "" "" "" "00314831" "" "" "" "1" "" "00006" "{PMID:Choi 2010:20506135}" "3-generation family, 1 affected" "M" "" "Korea" "" "0" "" "" "" "FamAPatA33" "00314833" "" "" "" "2" "" "00006" "{PMID:Bayram 2015:25774885}" "2-generation family, 2 affected sister, unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "FamHOU1852PatBAB4619/4620" "00314834" "" "" "" "2" "" "00006" "{PMID:Bayram 2015:25774885}" "2-generation family, 2 affected sister, unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "FamCF1374Pat03/04" "00314835" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat1" "00314836" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00314810" "00201" "00314811" "00201" "00314812" "00201" "00314813" "00201" "00314814" "00201" "00314815" "00201" "00314816" "00201" "00314817" "00201" "00314818" "00201" "00314819" "00201" "00314820" "00201" "00314821" "00201" "00314822" "00201" "00314823" "00201" "00314824" "00201" "00314825" "00201" "00314826" "00201" "00314827" "00201" "00314828" "00201" "00314829" "00201" "00314830" "00201" "00314831" "00201" "00314833" "00198" "00314834" "00198" "00314835" "00201" "00314836" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 04188, 05562, 05856, 05857 ## Count = 6 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000238588" "00201" "00314816" "00006" "Unknown" "" "see paper; nonobstructive azoospermia, no spermatogonia, no spermatocyte, no spermatids, no mature spermatozoa" "" "" "" "" "" "" "" "" "nonobstructive azoospermia" "" "0000238589" "00201" "00314831" "00006" "Unknown" "" "see paper; nonobstructive azoospermia, ..." "" "" "" "" "" "" "" "" "nonobstructive azoospermia" "" "0000238591" "00198" "00314833" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "ODG5" "ovarian dysgenesis" "" "0000238592" "00198" "00314834" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "ODG5" "ovarian dysgenesis" "" "0000238593" "00201" "00314835" "00006" "Familial, autosomal dominant" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "SPGF32" "non-obstructive azoospermia" "" "0000238594" "00201" "00314836" "00006" "Familial, autosomal dominant" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "SPGF32" "non-obstructive azoospermia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000315983" "00314810" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315984" "00314811" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315985" "00314812" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315986" "00314813" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315987" "00314814" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315988" "00314815" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315989" "00314816" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315990" "00314817" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315991" "00314818" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315992" "00314819" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315993" "00314820" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315994" "00314821" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315995" "00314822" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315996" "00314823" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315997" "00314824" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315998" "00314825" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000315999" "00314826" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000316000" "00314827" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000316001" "00314828" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000316002" "00314829" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000316003" "00314830" "1" "00006" "00006" "2020-10-19 10:36:19" "" "" "SEQ" "DNA" "" "" "0000316004" "00314831" "1" "00006" "00006" "2020-10-19 10:55:32" "" "" "SEQ" "DNA" "" "" "0000316006" "00314833" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316007" "00314834" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316008" "00314835" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316009" "00314836" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000315983" "SOHLH1" "0000315984" "SOHLH1" "0000315985" "SOHLH1" "0000315986" "SOHLH1" "0000315987" "SOHLH1" "0000315988" "SOHLH1" "0000315989" "SOHLH1" "0000315990" "SOHLH1" "0000315991" "SOHLH1" "0000315992" "SOHLH1" "0000315993" "SOHLH1" "0000315994" "SOHLH1" "0000315995" "SOHLH1" "0000315996" "SOHLH1" "0000315997" "SOHLH1" "0000315998" "SOHLH1" "0000315999" "SOHLH1" "0000316000" "SOHLH1" "0000316001" "SOHLH1" "0000316002" "SOHLH1" "0000316003" "SOHLH1" "0000316004" "SOHLH1" "0000316006" "SOHLH1" "0000316007" "SOHLH1" "0000316008" "SOHLH1" "0000316009" "SOHLH1" ## 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 = 47 "{{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}}" "0000248271" "0" "30" "9" "138594203" "138594203" "subst" "0.00206504" "02325" "KCNT1_000012" "g.138594203A>G" "" "" "" "KCNT1(NM_020822.2):c.99A>G (p.Q33=), KCNT1(NM_020822.3):c.99A>G (p.Q33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702357A>G" "" "likely benign" "" "0000251717" "0" "30" "9" "138594203" "138594203" "subst" "0.00206504" "02326" "KCNT1_000012" "g.138594203A>G" "" "" "" "KCNT1(NM_020822.2):c.99A>G (p.Q33=), KCNT1(NM_020822.3):c.99A>G (p.Q33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702357A>G" "" "likely benign" "" "0000281752" "0" "10" "9" "138594134" "138594134" "subst" "0.00668916" "02325" "KCNT1_000009" "g.138594134G>A" "" "" "" "KCNT1(NM_020822.2):c.30G>A (p.P10=), KCNT1(NM_020822.3):c.30G>A (p.P10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702288G>A" "" "benign" "" "0000285680" "0" "30" "9" "138594252" "138594252" "subst" "0.00204313" "02326" "KCNT1_000013" "g.138594252C>T" "" "" "" "KCNT1(NM_020822.2):c.110+38C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702406C>T" "" "likely benign" "" "0000285681" "0" "10" "9" "138594291" "138594291" "subst" "0" "02326" "KCNT1_000014" "g.138594291C>T" "" "" "" "KCNT1(NM_020822.2):c.110+77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702445C>T" "" "benign" "" "0000285734" "0" "10" "9" "138594134" "138594134" "subst" "0.00668916" "02326" "KCNT1_000009" "g.138594134G>A" "" "" "" "KCNT1(NM_020822.2):c.30G>A (p.P10=), KCNT1(NM_020822.3):c.30G>A (p.P10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702288G>A" "" "benign" "" "0000285766" "0" "30" "9" "138594163" "138594163" "subst" "0.00663784" "02326" "KCNT1_000010" "g.138594163G>C" "" "" "" "KCNT1(NM_020822.2):c.59G>C (p.G20A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702317G>C" "" "likely benign" "" "0000332888" "0" "30" "9" "138589415" "138589415" "subst" "0.000297173" "01804" "KCNT1_000157" "g.138589415G>A" "" "" "" "SOHLH1(NM_001101677.2):c.404C>T (p.(Thr135Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135697569G>A" "" "likely benign" "" "0000332890" "0" "50" "9" "138590980" "138590980" "subst" "1.97054E-5" "01804" "KCNT1_000159" "g.138590980G>A" "" "" "" "SOHLH1(NM_001012415.2):c.66-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135699134G>A" "" "VUS" "" "0000332891" "0" "50" "9" "138591313" "138591313" "subst" "0" "01804" "KCNT1_000160" "g.138591313T>C" "" "" "" "SOHLH1(NM_001012415.2):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135699467T>C" "" "VUS" "" "0000332892" "0" "50" "9" "138594177" "138594177" "subst" "1.2459E-5" "01804" "KCNT1_000011" "g.138594177C>T" "" "" "" "KCNT1(NM_001272003.1):c.73C>T (p.(Arg25Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.135702331C>T" "" "VUS" "" "0000611972" "0" "30" "9" "138585504" "138585504" "subst" "0" "01943" "SOHLH1_000001" "g.138585504C>G" "" "" "" "SOHLH1(NM_001101677.1):c.1103G>C (p.C368S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135693658C>G" "" "likely benign" "" "0000611973" "0" "30" "9" "138588582" "138588582" "subst" "0.000525456" "01943" "SOHLH1_000002" "g.138588582G>A" "" "" "" "SOHLH1(NM_001012415.2):c.537C>T (p.P179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135696736G>A" "" "likely benign" "" "0000611974" "0" "30" "9" "138594162" "138594162" "subst" "0" "01804" "KCNT1_000199" "g.138594162G>A" "" "" "" "KCNT1(NM_001272003.1):c.58G>A (p.(Gly20Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.135702316G>A" "" "likely benign" "" "0000698098" "1" "10" "9" "138591266" "138591266" "subst" "0.877045" "00006" "SOHLH1_000018" "g.138591266A>G" "" "{PMID:Choi 2010:20506135}" "" "48C>T" "" "Germline" "" "rs559326" "0" "" "" "g.135699420A>G" "" "benign" "" "0000698099" "1" "10" "9" "138591230" "138591230" "subst" "0.867816" "00006" "SOHLH1_000017" "g.138591230C>T" "" "{PMID:Choi 2010:20506135}" "" "65+19A>G" "" "Germline" "" "rs558113" "0" "" "" "g.135699384C>T" "" "likely benign" "" "0000698100" "1" "10" "9" "138590947" "138590947" "subst" "0.000153016" "00006" "SOHLH1_000016" "g.138590947A>G" "" "{PMID:Choi 2010:20506135}" "" "" "" "Germline" "" "" "0" "" "" "g.135699101A>G" "" "benign" "" "0000698101" "1" "10" "9" "138590928" "138590928" "" "0" "00006" "SOHLH1_000004" "g.138590928C=" "" "{PMID:Choi 2010:20506135}" "" "" "" "Germline" "" "rs471525" "0" "" "" "g.135699082C=" "" "benign" "" "0000698102" "1" "10" "9" "138590347" "138590347" "subst" "0.920409" "00006" "SOHLH1_000015" "g.138590347C>T" "" "{PMID:Choi 2010:20506135}" "" "198-25A>G" "" "Germline" "" "rs529976" "0" "" "" "g.135698501C>T" "" "benign" "" "0000698103" "1" "10" "9" "138590138" "138590138" "subst" "0.933836" "00006" "SOHLH1_000014" "g.138590138T>C" "" "{PMID:Choi 2010:20506135}" "" "345+37G>A" "" "Germline" "" "rs506498" "0" "" "" "g.135698292T>C" "" "benign" "" "0000698104" "0" "70" "9" "138589474" "138589474" "subst" "0" "00006" "SOHLH1_000003" "g.138589474C>A" "2/96 cases" "{PMID:Choi 2010:20506135}" "" "" "effect on splicing predicted from exon trapping in HEK293 cells; variant not in 159 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.135697628C>A" "" "likely pathogenic (dominant)" "" "0000698105" "1" "30" "9" "138589311" "138589311" "subst" "0.39903" "00006" "SOHLH1_000012" "g.138589311G>A" "" "{PMID:Choi 2010:20506135}" "" "" "" "Germline" "" "rs7036532" "0" "" "" "g.135697465G>A" "" "likely benign" "" "0000698106" "1" "30" "9" "138588590" "138588590" "subst" "0.000209232" "00006" "SOHLH1_000011" "g.138588590G>T" "" "{PMID:Choi 2010:20506135}" "" "" "" "Germline" "" "" "0" "" "" "g.135696744G>T" "" "likely benign" "" "0000698107" "3" "10" "9" "138586967" "138586967" "subst" "0.920205" "00006" "SOHLH1_000009" "g.138586967C>A" "" "{PMID:Choi 2010:20506135}" "" "804T>G" "no heterozygotes" "Germline" "" "rs3119933" "0" "" "" "g.135695121C>A" "" "benign" "" "0000698108" "3" "10" "9" "138586966" "138586966" "subst" "0.920512" "00006" "SOHLH1_000008" "g.138586966G>A" "" "{PMID:Choi 2010:20506135}" "" "805T>C" "no heterozygotes" "Germline" "" "rs3119932" "0" "" "" "g.135695120G>A" "" "benign" "" "0000698109" "3" "10" "9" "138586854" "138586854" "subst" "0.919273" "00006" "SOHLH1_000007" "g.138586854C>T" "" "{PMID:Choi 2010:20506135}" "" "875+42>G" "no heterozygotes" "Germline" "" "rs3118655" "0" "" "" "g.135695008C>T" "" "benign" "" "0000698110" "1" "10" "9" "138586309" "138586309" "subst" "0.919325" "00006" "SOHLH1_000006" "g.138586309A>G" "" "{PMID:Choi 2010:20506135}" "" "876-6C>T" "" "Germline" "" "rs484524" "0" "" "" "g.135694463A>G" "" "benign" "" "0000698111" "1" "10" "9" "138586198" "138586198" "subst" "0.912669" "00006" "SOHLH1_000005" "g.138586198G>A" "" "{PMID:Choi 2010:20506135}" "" "981T>C" "" "Germline" "" "rs572335" "0" "" "" "g.135694352G>A" "" "benign" "" "0000698112" "3" "10" "9" "138591266" "138591266" "subst" "0.877045" "00006" "SOHLH1_000018" "g.138591266A>G" "" "{PMID:Choi 2010:20506135}" "" "48C>T" "" "Germline" "" "rs3118655" "0" "" "" "g.135699420A>G" "" "benign" "" "0000698113" "3" "10" "9" "138591230" "138591230" "subst" "0.867816" "00006" "SOHLH1_000017" "g.138591230C>T" "" "{PMID:Choi 2010:20506135}" "" "65+19A>G" "" "Germline" "" "rs484524" "0" "" "" "g.135699384C>T" "" "benign" "" "0000698114" "3" "10" "9" "138590928" "138590928" "" "0" "00006" "SOHLH1_000004" "g.138590928C=" "" "{PMID:Choi 2010:20506135}" "" "" "" "Germline" "" "rs572335" "0" "" "" "g.135699082C=" "" "benign" "" "0000698115" "3" "10" "9" "138590347" "138590347" "subst" "0.920409" "00006" "SOHLH1_000015" "g.138590347C>T" "" "{PMID:Choi 2010:20506135}" "" "198-25A>G" "" "Germline" "" "rs529976" "0" "" "" "g.135698501C>T" "" "benign" "" "0000698116" "3" "10" "9" "138590138" "138590138" "subst" "0.933836" "00006" "SOHLH1_000014" "g.138590138T>C" "" "{PMID:Choi 2010:20506135}" "" "345+37G>A" "" "Germline" "" "rs506498" "0" "" "" "g.135698292T>C" "" "benign" "" "0000698117" "3" "10" "9" "138586309" "138586309" "subst" "0.919325" "00006" "SOHLH1_000006" "g.138586309A>G" "" "{PMID:Choi 2010:20506135}" "" "876-6C>T" "" "Germline" "" "rs484524" "0" "" "" "g.135694463A>G" "" "benign" "" "0000698118" "3" "10" "9" "138586198" "138586198" "subst" "0.912669" "00006" "SOHLH1_000005" "g.138586198G>A" "" "{PMID:Choi 2010:20506135}" "" "981T>C" "" "Germline" "" "rs572335" "0" "" "" "g.135694352G>A" "" "benign" "" "0000698119" "1" "70" "9" "138589474" "138589474" "subst" "0" "00006" "SOHLH1_000003" "g.138589474C>A" "2/96 cases" "{PMID:Choi 2010:20506135}" "" "" "effect on splicing predicted from exon trapping in HEK293 cells; variant not in 159 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.135697628C>A" "" "likely pathogenic (dominant)" "" "0000698122" "1" "90" "9" "138587066" "138587066" "del" "0" "00006" "SOHLH1_000010" "g.138587066del" "" "{DOI:Bayram 2015:25774885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135695220del" "" "pathogenic (recessive)" "" "0000698123" "1" "90" "9" "138591287" "138591287" "subst" "0" "00006" "SOHLH1_000019" "g.138591287G>C" "" "{DOI:Bayram 2015:25774885}" "" "" "" "Germline" "yes" "" "0" "" "" "g.135699441G>C" "" "pathogenic (recessive)" "" "0000698124" "0" "70" "9" "138589474" "138589474" "subst" "0.00296618" "00006" "SOHLH1_000013" "g.138589474C>T" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.135697628C>T" "" "likely pathogenic (dominant)" "ACMG" "0000698125" "0" "70" "9" "138589474" "138589474" "subst" "0.00296618" "00006" "SOHLH1_000013" "g.138589474C>T" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.135697628C>T" "" "likely pathogenic (dominant)" "ACMG" "0000803965" "0" "50" "9" "138590248" "138590248" "subst" "4.06957E-6" "01943" "KCNT1_000223" "g.138590248G>A" "" "" "" "SOHLH1(NM_001012415.2):c.272C>T (p.A91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925014" "0" "50" "9" "138594154" "138594154" "subst" "0" "02325" "KCNT1_000248" "g.138594154C>T" "" "" "" "KCNT1(NM_020822.3):c.50C>T (p.A17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929566" "0" "30" "9" "138585617" "138585617" "subst" "0.0016389" "02326" "SOHLH1_000020" "g.138585617T>C" "" "" "" "SOHLH1(NM_001101677.1):c.990A>G (p.P330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037292" "0" "30" "9" "138590310" "138590310" "subst" "0.00421047" "01804" "KCNT1_000263" "g.138590310C>T" "" "" "" "SOHLH1(NM_001101677.2):c.210G>A (p.(Ser70=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046188" "0" "90" "9" "138587066" "138587066" "del" "0" "02325" "SOHLH1_000010" "g.138587066del" "" "" "" "SOHLH1(NM_001101677.2):c.705delT (p.K236Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001065164" "0" "50" "9" "138587076" "138587076" "subst" "0" "02325" "SOHLH1_000021" "g.138587076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065165" "0" "50" "9" "138590941" "138590941" "subst" "2.58296E-5" "02325" "KCNT1_000276" "g.138590941C>T" "" "" "" "" "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 SOHLH1 ## Count = 47 "{{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}}" "0000248271" "00020015" "30" "-2890" "0" "-2890" "0" "c.-2890T>C" "r.(?)" "p.(=)" "" "0000251717" "00020015" "30" "-2890" "0" "-2890" "0" "c.-2890T>C" "r.(?)" "p.(=)" "" "0000281752" "00020015" "10" "-2821" "0" "-2821" "0" "c.-2821C>T" "r.(?)" "p.(=)" "" "0000285680" "00020015" "30" "-2939" "0" "-2939" "0" "c.-2939G>A" "r.(?)" "p.(=)" "" "0000285681" "00020015" "10" "-2978" "0" "-2978" "0" "c.-2978G>A" "r.(?)" "p.(=)" "" "0000285734" "00020015" "10" "-2821" "0" "-2821" "0" "c.-2821C>T" "r.(?)" "p.(=)" "" "0000285766" "00020015" "30" "-2850" "0" "-2850" "0" "c.-2850C>G" "r.(?)" "p.(=)" "" "0000332888" "00020015" "30" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Thr135Met)" "" "0000332890" "00020015" "50" "66" "-8" "66" "-8" "c.66-8C>T" "r.(=)" "p.(=)" "" "0000332891" "00020015" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000332892" "00020015" "50" "-2864" "0" "-2864" "0" "c.-2864G>A" "r.(?)" "p.(=)" "" "0000611972" "00020015" "30" "1675" "0" "1675" "0" "c.*688G>C" "r.(=)" "p.(=)" "" "0000611973" "00020015" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Pro179=)" "" "0000611974" "00020015" "30" "-2849" "0" "-2849" "0" "c.-2849C>T" "r.(?)" "p.(=)" "" "0000698098" "00020015" "10" "48" "0" "48" "0" "c.48T>C" "r.(?)" "p.(Pro16=)" "" "0000698099" "00020015" "10" "65" "19" "65" "19" "c.65+19G>A" "r.(?)" "p.(=)" "" "0000698100" "00020015" "10" "91" "0" "91" "0" "c.91T>C" "r.(?)" "p.(Cys31Arg)" "" "0000698101" "00020015" "10" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Gln37Arg)" "" "0000698102" "00020015" "10" "198" "-25" "198" "-25" "c.198-25G>A" "r.(?)" "p.(=)" "" "0000698103" "00020015" "10" "345" "37" "345" "37" "c.345+37A>G" "r.(?)" "p.(=)" "" "0000698104" "00020015" "70" "346" "-1" "346" "-1" "c.346-1G>T" "r.(346_363del)" "p.(Ile116_Ly121del)" "3i" "0000698105" "00020015" "30" "467" "41" "467" "41" "c.467+41C>T" "r.(?)" "p.(=)" "" "0000698106" "00020015" "30" "529" "0" "529" "0" "c.529C>A" "r.(?)" "p.(Pro177Thr)" "" "0000698107" "00020015" "10" "804" "0" "804" "0" "c.804G>T" "r.(?)" "p.(Gly268=)" "" "0000698108" "00020015" "10" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Pro269Ser)" "" "0000698109" "00020015" "10" "875" "42" "875" "42" "c.875+42G>A" "r.(?)" "p.(=)" "" "0000698110" "00020015" "10" "876" "-6" "876" "-6" "c.876-6T>C" "r.(?)" "p.(=)" "" "0000698111" "00020015" "10" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Pro327=)" "" "0000698112" "00020015" "10" "48" "0" "48" "0" "c.48T>C" "r.(?)" "p.(Pro16=)" "" "0000698113" "00020015" "10" "65" "19" "65" "19" "c.65+19G>A" "r.(?)" "p.(=)" "" "0000698114" "00020015" "10" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Gln37Arg)" "" "0000698115" "00020015" "10" "198" "-25" "198" "-25" "c.198-25G>A" "r.(?)" "p.(=)" "" "0000698116" "00020015" "10" "345" "37" "345" "37" "c.345+37A>G" "r.(?)" "p.(=)" "" "0000698117" "00020015" "10" "876" "-6" "876" "-6" "c.876-6T>C" "r.(?)" "p.(=)" "" "0000698118" "00020015" "10" "981" "0" "981" "0" "c.981C>T" "r.(?)" "p.(Pro327=)" "" "0000698119" "00020015" "70" "346" "-1" "346" "-1" "c.346-1G>T" "r.(346_363del)" "p.(Ile116_Ly121del)" "3i" "0000698122" "00020015" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Lys236Argfs*3)" "" "0000698123" "00020015" "90" "27" "0" "27" "0" "c.27C>G" "r.(?)" "p.(Tyr9*)" "" "0000698124" "00020015" "70" "346" "-1" "346" "-1" "c.346-1G>A" "r.spl" "p.?" "" "0000698125" "00020015" "70" "346" "-1" "346" "-1" "c.346-1G>A" "r.spl" "p.?" "" "0000803965" "00020015" "50" "272" "0" "272" "0" "c.272C>T" "r.(?)" "p.(Ala91Val)" "" "0000925014" "00020015" "50" "-2841" "0" "-2841" "0" "c.-2841G>A" "r.(?)" "p.(=)" "" "0000929566" "00020015" "30" "1562" "0" "1562" "0" "c.*575A>G" "r.(=)" "p.(=)" "" "0001037292" "00020015" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(=)" "" "0001046188" "00020015" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Lys236Argfs*3)" "" "0001065164" "00020015" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232Gln)" "" "0001065165" "00020015" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Glu33Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000315983" "0000698098" "0000315984" "0000698099" "0000315985" "0000698100" "0000315986" "0000698101" "0000315987" "0000698102" "0000315988" "0000698103" "0000315989" "0000698104" "0000315990" "0000698105" "0000315991" "0000698106" "0000315992" "0000698107" "0000315993" "0000698108" "0000315994" "0000698109" "0000315995" "0000698110" "0000315996" "0000698111" "0000315997" "0000698112" "0000315998" "0000698113" "0000315999" "0000698114" "0000316000" "0000698115" "0000316001" "0000698116" "0000316002" "0000698117" "0000316003" "0000698118" "0000316004" "0000698119" "0000316006" "0000698122" "0000316007" "0000698123" "0000316008" "0000698124" "0000316009" "0000698125"