### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SP110) # 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}}" "SP110" "SP110 nuclear body protein" "2" "q37.1" "unknown" "LRG_109" "UD_132048705393" "" "https://www.LOVD.nl/SP110" "" "1" "5401" "3431" "604457" "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/SP110_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-21 17:15:31" "00000" "2023-07-07 10:10:56" ## 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}}" "00020065" "SP110" "transcript variant c" "002" "NM_080424.2" "" "NP_536349.2" "" "" "" "-240" "2348" "2142" "231084827" "231033634" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01839" "VODI" "Hepatic venoocclusive disease with immunodeficiency" "AR" "235550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02727" "-" "Mycobacterium tuberculosis, susceptibility to" "" "607948" "" "" "" "00006" "2014-09-25 23:29:40" "" "" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SP110" "01839" "SP110" "02727" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00292629" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292630" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304795" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00433041" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "" "0" "" "" "" "Pat8,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00292629" "00198" "00292630" "00198" "00304795" "00198" "00433041" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01839, 02727, 05292 ## Count = 1 "{{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}}" "0000323567" "05292" "00433041" "00006" "Familial, autosomal recessive" "" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293797" "00292629" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293798" "00292630" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305924" "00304795" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000434472" "00433041" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 51 "{{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}}" "0000248850" "0" "10" "2" "231042276" "231042276" "subst" "0.4202" "02325" "SP110_000006" "g.231042276A>G" "" "" "" "SP110(NM_080424.4):c.1568T>C (p.M523T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230177560A>G" "" "benign" "" "0000298440" "0" "10" "2" "231036866" "231036866" "subst" "0.0951802" "02325" "SP110_000002" "g.231036866G>A" "" "" "" "SP110(NM_080424.4):c.1731C>T (p.C577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172150G>A" "" "benign" "" "0000298441" "0" "10" "2" "231036768" "231036768" "subst" "0.0976888" "02325" "SP110_000001" "g.231036768T>C" "" "" "" "SP110(NM_080424.4):c.1815+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172052T>C" "" "benign" "" "0000298442" "0" "10" "2" "231072709" "231072709" "subst" "0.685572" "02325" "SP110_000010" "g.231072709C>T" "" "" "" "SP110(NM_080424.4):c.895G>A (p.G299R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230207994C>T" "" "benign" "" "0000302403" "0" "30" "2" "231065630" "231065630" "subst" "0.00376551" "02326" "SP110_000009" "g.231065630G>A" "" "" "" "SP110(NM_004509.4):c.1100C>T (p.T367M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230200914G>A" "" "likely benign" "" "0000302404" "0" "10" "2" "231042873" "231042873" "subst" "0.00779795" "02326" "SP110_000008" "g.231042873C>T" "" "" "" "SP110(NM_004509.4):c.1447G>A (p.G483R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230178157C>T" "" "benign" "" "0000302405" "0" "10" "2" "231037684" "231037684" "subst" "0.000578539" "02326" "SP110_000005" "g.231037684G>A" "" "" "" "SP110(NM_004509.4):c.1591-9C>T, SP110(NM_080424.2):c.1591-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172968G>A" "" "benign" "" "0000302406" "0" "10" "2" "231077683" "231077683" "subst" "0.016654" "02326" "SP110_000011" "g.231077683C>T" "" "" "" "SP110(NM_080424.2):c.376G>A (p.G126S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230212968C>T" "" "benign" "" "0000308742" "0" "10" "2" "231042802" "231042802" "subst" "0" "01943" "SP110_000007" "g.231042802C>T" "" "" "" "SP110(NM_080424.2):c.1447+71G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230178086C>T" "" "benign" "" "0000308743" "0" "30" "2" "231037684" "231037684" "subst" "0.000578539" "01943" "SP110_000005" "g.231037684G>A" "" "" "" "SP110(NM_004509.4):c.1591-9C>T, SP110(NM_080424.2):c.1591-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172968G>A" "" "likely benign" "" "0000308744" "0" "50" "2" "231037606" "231037606" "subst" "2.03089E-5" "01943" "SP110_000004" "g.231037606G>C" "" "" "" "SP110(NM_080424.2):c.1660C>G (p.R554G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172890G>C" "" "VUS" "" "0000308745" "0" "50" "2" "231037556" "231037556" "subst" "0.000756479" "01943" "SP110_000003" "g.231037556T>A" "" "" "" "SP110(NM_004509.4):c.1706+4A>T, SP110(NM_080424.2):c.1706+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.230172840T>A" "" "VUS" "" "0000515019" "0" "30" "2" "231035410" "231035410" "subst" "3.24894E-5" "01943" "SP110_000012" "g.231035410G>A" "" "" "" "SP110(NM_080424.2):c.1955C>T (p.T652M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230170694G>A" "" "likely benign" "" "0000515020" "0" "10" "2" "231037619" "231037619" "subst" "0.00155162" "01943" "SP110_000013" "g.231037619G>A" "" "" "" "SP110(NM_004509.4):c.1647C>T (p.C549=), SP110(NM_080424.2):c.1647C>T (p.C549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230172903G>A" "" "benign" "" "0000515021" "0" "30" "2" "231042244" "231042244" "subst" "4.06095E-6" "02326" "SP110_000014" "g.231042244A>T" "" "" "" "SP110(NM_004509.4):c.1590+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230177528A>T" "" "likely benign" "" "0000515022" "0" "30" "2" "231042380" "231042380" "subst" "0.00502462" "02326" "SP110_000015" "g.231042380G>A" "" "" "" "SP110(NM_004509.4):c.1464C>T (p.C488=), SP110(NM_080424.2):c.1464C>T (p.C488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230177664G>A" "" "likely benign" "" "0000515023" "0" "30" "2" "231048298" "231048298" "subst" "0" "01943" "SP110_000016" "g.231048298A>C" "" "" "" "SP110(NM_080424.2):c.1338T>G (p.I446M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230183582A>C" "" "likely benign" "" "0000515024" "0" "30" "2" "231048312" "231048312" "subst" "0.000463196" "01943" "SP110_000017" "g.231048312A>G" "" "" "" "SP110(NM_080424.2):c.1324T>C (p.F442L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230183596A>G" "" "likely benign" "" "0000515025" "0" "10" "2" "231050715" "231050715" "subst" "0.889272" "02325" "SP110_000018" "g.231050715A>G" "" "" "" "SP110(NM_080424.4):c.1274T>C (p.L425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515026" "0" "30" "2" "231077155" "231077155" "subst" "0.00199615" "01943" "SP110_000019" "g.231077155G>C" "" "" "" "SP110(NM_004509.4):c.584-10C>G, SP110(NM_080424.2):c.584-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212440G>C" "" "likely benign" "" "0000515027" "0" "30" "2" "231077155" "231077155" "subst" "0.00199615" "02326" "SP110_000019" "g.231077155G>C" "" "" "" "SP110(NM_004509.4):c.584-10C>G, SP110(NM_080424.2):c.584-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212440G>C" "" "likely benign" "" "0000515028" "0" "30" "2" "231077540" "231077540" "subst" "0.000117831" "02326" "SP110_000020" "g.231077540C>T" "" "" "" "SP110(NM_004509.4):c.519G>A (p.S173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212825C>T" "" "likely benign" "" "0000515029" "0" "10" "2" "231077725" "231077725" "subst" "0.909554" "02325" "SP110_000021" "g.231077725A>G" "" "" "" "SP110(NM_080424.4):c.334T>C (p.W112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000515030" "0" "30" "2" "231086402" "231086402" "subst" "7.71224E-6" "02326" "SP110_000022" "g.231086402A>T" "" "" "" "SP110(NM_001185015.2):c.17+18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230221687A>T" "" "likely benign" "" "0000607808" "0" "30" "2" "231035359" "231035359" "subst" "0.00325319" "01804" "SP110_000023" "g.231035359C>T" "" "" "" "SP110(NM_004509.3):c.1934G>A (p.(Arg645His)), SP110(NM_004509.4):c.1934G>A (p.R645H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230170643C>T" "" "likely benign" "" "0000607809" "0" "30" "2" "231042380" "231042380" "subst" "0.00502462" "01943" "SP110_000015" "g.231042380G>A" "" "" "" "SP110(NM_004509.4):c.1464C>T (p.C488=), SP110(NM_080424.2):c.1464C>T (p.C488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230177664G>A" "" "likely benign" "" "0000607810" "0" "10" "2" "231077112" "231077112" "subst" "0.214053" "02326" "SP110_000024" "g.231077112G>A" "" "" "" "SP110(NM_004509.4):c.617C>T (p.A206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.230212397G>A" "" "benign" "" "0000650486" "1" "30" "2" "231042873" "231042873" "subst" "0.00779795" "03575" "SP110_000008" "g.231042873C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs149485401}" "Germline" "" "rs149485401" "0" "" "" "g.230178157C>T" "" "likely benign" "" "0000650487" "1" "30" "2" "231077683" "231077683" "subst" "0.016654" "03575" "SP110_000011" "g.231077683C>T" "28/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous; {DB:CLININrs41309088}" "Germline" "" "rs41309088" "0" "" "" "g.230212968C>T" "" "likely benign" "" "0000669612" "3" "30" "2" "231077683" "231077683" "subst" "0.016654" "03575" "SP110_000011" "g.231077683C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs41309088}" "Germline" "" "rs41309088" "0" "" "" "g.230212968C>T" "" "likely benign" "" "0000676542" "0" "30" "2" "231077461" "231077461" "subst" "1.21931E-5" "02326" "SP110_000025" "g.231077461G>A" "" "" "" "SP110(NM_004509.4):c.583+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676543" "0" "30" "2" "231079732" "231079732" "subst" "0" "02326" "SP110_000026" "g.231079732T>C" "" "" "" "SP110(NM_004509.4):c.249A>G (p.T83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688685" "0" "30" "2" "231037540" "231037540" "subst" "0.00064453" "02326" "SP110_000027" "g.231037540C>T" "" "" "" "SP110(NM_080424.2):c.1706+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688686" "0" "30" "2" "231067365" "231067365" "subst" "0.000292398" "02326" "SP110_000028" "g.231067365A>C" "" "" "" "SP110(NM_080424.2):c.978T>G (p.T326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718607" "0" "30" "2" "231036795" "231036795" "subst" "8.12493E-6" "01943" "SP110_000029" "g.231036795G>A" "" "" "" "SP110(NM_080424.2):c.1802C>T (p.P601L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800467" "0" "30" "2" "231033864" "231033864" "subst" "6.49883E-5" "02326" "SP110_000030" "g.231033864G>A" "" "" "" "SP110(NM_004509.4):c.2046C>T (p.D682=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800468" "0" "30" "2" "231036840" "231036840" "subst" "2.43726E-5" "01943" "SP110_000031" "g.231036840T>C" "" "" "" "SP110(NM_080424.2):c.1757A>G (p.Q586R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800469" "0" "30" "2" "231042877" "231042877" "subst" "3.68032E-5" "01943" "SP110_000032" "g.231042877T>C" "" "" "" "SP110(NM_080424.2):c.1443A>G (p.K481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800470" "0" "50" "2" "231050764" "231050764" "subst" "2.03059E-5" "01943" "SP110_000033" "g.231050764T>A" "" "" "" "SP110(NM_080424.2):c.1225A>T (p.M409L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800471" "0" "30" "2" "231067313" "231067313" "subst" "2.03062E-5" "01943" "SP110_000034" "g.231067313G>C" "" "" "" "SP110(NM_080424.2):c.1030C>G (p.R344G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800472" "0" "50" "2" "231086432" "231086432" "subst" "0" "01943" "SP110_000035" "g.231086432C>T" "" "" "" "SP110(NM_001185015.1):c.5G>A (p.G2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000849786" "0" "30" "2" "231067354" "231067354" "subst" "0.000934321" "02326" "SP110_000036" "g.231067354G>A" "" "" "" "SP110(NM_004509.4):c.989C>T (p.T330M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849787" "0" "30" "2" "231077517" "231077517" "subst" "0.00133663" "02326" "SP110_000037" "g.231077517A>C" "" "" "" "SP110(NM_004509.4):c.542T>G (p.L181R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885008" "0" "30" "2" "231077600" "231077600" "subst" "0.000239734" "02326" "SP110_000038" "g.231077600C>T" "" "" "" "SP110(NM_004509.4):c.459G>A (p.A153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911633" "0" "30" "2" "231035359" "231035359" "subst" "0.00325319" "02326" "SP110_000023" "g.231035359C>T" "" "" "" "SP110(NM_004509.3):c.1934G>A (p.(Arg645His)), SP110(NM_004509.4):c.1934G>A (p.R645H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920232" "3" "90" "2" "231076250" "231076250" "dup" "0" "00006" "SP110_000039" "g.231076250dup" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "586dupT (Q231fs)" "" "Germline" "" "" "0" "" "" "g.230211535dup" "" "pathogenic" "ACMG" "0000923652" "0" "70" "2" "231077724" "231077724" "subst" "5.33311E-5" "02326" "SP110_000040" "g.231077724C>T" "" "" "" "SP110(NM_004509.4):c.335G>A (p.W112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928555" "0" "30" "2" "231037556" "231037556" "subst" "0.000756479" "02326" "SP110_000003" "g.231037556T>A" "" "" "" "SP110(NM_004509.4):c.1706+4A>T, SP110(NM_080424.2):c.1706+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928556" "0" "30" "2" "231037619" "231037619" "subst" "0.00155162" "02326" "SP110_000013" "g.231037619G>A" "" "" "" "SP110(NM_004509.4):c.1647C>T (p.C549=), SP110(NM_080424.2):c.1647C>T (p.C549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928557" "0" "30" "2" "231077541" "231077541" "subst" "1.21885E-5" "02326" "SP110_000041" "g.231077541G>A" "" "" "" "SP110(NM_004509.4):c.518C>T (p.S173L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928558" "0" "30" "2" "231079731" "231079731" "subst" "0" "02326" "SP110_000042" "g.231079731A>G" "" "" "" "SP110(NM_004509.4):c.250T>C (p.L84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SP110 ## Count = 51 "{{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}}" "0000248850" "00020065" "10" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Met523Thr)" "" "0000298440" "00020065" "10" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Cys577=)" "" "0000298441" "00020065" "10" "1815" "14" "1815" "14" "c.1815+14A>G" "r.(=)" "p.(=)" "" "0000298442" "00020065" "10" "895" "0" "895" "0" "c.895G>A" "r.(?)" "p.(Gly299Arg)" "" "0000302403" "00020065" "30" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.(Thr367Met)" "" "0000302404" "00020065" "10" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Arg)" "" "0000302405" "00020065" "10" "1591" "-9" "1591" "-9" "c.1591-9C>T" "r.(=)" "p.(=)" "" "0000302406" "00020065" "10" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000308742" "00020065" "10" "1447" "71" "1447" "71" "c.1447+71G>A" "r.(=)" "p.(=)" "" "0000308743" "00020065" "30" "1591" "-9" "1591" "-9" "c.1591-9C>T" "r.(=)" "p.(=)" "" "0000308744" "00020065" "50" "1660" "0" "1660" "0" "c.1660C>G" "r.(?)" "p.(Arg554Gly)" "" "0000308745" "00020065" "50" "1706" "4" "1706" "4" "c.1706+4A>T" "r.spl?" "p.?" "" "0000515019" "00020065" "30" "1955" "0" "1955" "0" "c.1955C>T" "r.(?)" "p.(Thr652Met)" "" "0000515020" "00020065" "10" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Cys549=)" "" "0000515021" "00020065" "30" "1590" "10" "1590" "10" "c.1590+10T>A" "r.(=)" "p.(=)" "" "0000515022" "00020065" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Cys488=)" "" "0000515023" "00020065" "30" "1338" "0" "1338" "0" "c.1338T>G" "r.(?)" "p.(Ile446Met)" "" "0000515024" "00020065" "30" "1324" "0" "1324" "0" "c.1324T>C" "r.(?)" "p.(Phe442Leu)" "" "0000515025" "00020065" "10" "1274" "0" "1274" "0" "c.1274=" "r.(=)" "p.(Ser425=)" "" "0000515026" "00020065" "30" "584" "-10" "584" "-10" "c.584-10C>G" "r.(=)" "p.(=)" "" "0000515027" "00020065" "30" "584" "-10" "584" "-10" "c.584-10C>G" "r.(=)" "p.(=)" "" "0000515028" "00020065" "30" "519" "0" "519" "0" "c.519G>A" "r.(?)" "p.(Ser173=)" "" "0000515029" "00020065" "10" "334" "0" "334" "0" "c.334=" "r.(=)" "p.(Arg112=)" "" "0000515030" "00020065" "30" "-1815" "0" "-1815" "0" "c.-1815T>A" "r.(?)" "p.(=)" "" "0000607808" "00020065" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Arg669His)" "" "0000607809" "00020065" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Cys488=)" "" "0000607810" "00020065" "10" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Ala206Val)" "" "0000650486" "00020065" "30" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Gly483Arg)" "" "0000650487" "00020065" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000669612" "00020065" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000676542" "00020065" "30" "583" "15" "583" "15" "c.583+15C>T" "r.(=)" "p.(=)" "" "0000676543" "00020065" "30" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(Thr83=)" "" "0000688685" "00020065" "30" "1706" "20" "1706" "20" "c.1706+20G>A" "r.(=)" "p.(=)" "" "0000688686" "00020065" "30" "978" "0" "978" "0" "c.978T>G" "r.(?)" "p.(Thr326=)" "" "0000718607" "00020065" "30" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Pro601Leu)" "" "0000800467" "00020065" "30" "2118" "0" "2118" "0" "c.2118C>T" "r.(?)" "p.(Asp706=)" "" "0000800468" "00020065" "30" "1757" "0" "1757" "0" "c.1757A>G" "r.(?)" "p.(Gln586Arg)" "" "0000800469" "00020065" "30" "1443" "0" "1443" "0" "c.1443A>G" "r.(?)" "p.(Lys481=)" "" "0000800470" "00020065" "50" "1225" "0" "1225" "0" "c.1225A>T" "r.(?)" "p.(Met409Leu)" "" "0000800471" "00020065" "30" "1030" "0" "1030" "0" "c.1030C>G" "r.(?)" "p.(Arg344Gly)" "" "0000800472" "00020065" "50" "-1845" "0" "-1845" "0" "c.-1845G>A" "r.(?)" "p.(=)" "" "0000849786" "00020065" "30" "989" "0" "989" "0" "c.989C>T" "r.(?)" "p.(Thr330Met)" "" "0000849787" "00020065" "30" "542" "0" "542" "0" "c.542T>G" "r.(?)" "p.(Leu181Arg)" "" "0000885008" "00020065" "30" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(Ala153=)" "" "0000911633" "00020065" "30" "2006" "0" "2006" "0" "c.2006G>A" "r.(?)" "p.(Arg669His)" "" "0000920232" "00020065" "90" "686" "0" "686" "0" "c.686dup" "r.(?)" "p.(Gln231ProfsTer5)" "6" "0000923652" "00020065" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Gln)" "" "0000928555" "00020065" "30" "1706" "4" "1706" "4" "c.1706+4A>T" "r.spl?" "p.?" "" "0000928556" "00020065" "30" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Cys549=)" "" "0000928557" "00020065" "30" "518" "0" "518" "0" "c.518C>T" "r.(?)" "p.(Ser173Leu)" "" "0000928558" "00020065" "30" "250" "0" "250" "0" "c.250T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000293797" "0000650486" "0000293798" "0000650487" "0000305924" "0000669612" "0000434472" "0000920232"