### 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" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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/Lung}}" "{{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 = 45 "{{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" "" ## 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 = 45 "{{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)" "" ## 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"