### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STAG3) # 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}}" "STAG3" "stromal antigen 3" "7" "q22" "unknown" "NC_000007.13" "UD_132465733061" "" "http://www.LOVD.nl/STAG3" "" "1" "11356" "10734" "608489" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/STAG3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-13 11:48:16" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020412" "STAG3" "stromal antigen 3" "001" "NM_012447.2" "" "NP_036579.2" "" "" "" "-155" "4050" "3678" "99775538" "99812010" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "04063" "POF8" "ovarian failure, premature, type 8 (POF-8)" "AR" "615723" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "06920" "SPGF61" "spermatogenic failure, type 61" "AR" "619672" "" "" "" "00006" "2022-04-13 11:47:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "STAG3" "04063" "STAG3" "04187" "STAG3" "05562" "STAG3" "06920" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00029771" "" "" "" "2" "" "01224" "{PMID:Le Quesne Stabej 2016:26059840}, {DOI:Le Quesne Stabej 2016:10.1038/ejhg.2015.107}" "two affected sisters, unaffected parents" "F" "yes" "(Lebanon)" "" "0" "" "" "Lebanese" "26059840-FamPatII1/2" "00029856" "" "" "" "5" "" "00006" "{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}, {PMID:Caburet 2012:22428046}" "5-generation family, 5 affecteds (5F), unaffected heterozygous carriers" "" "yes" "Israel" "" "0" "" "" "Palestinian" "" "00418512" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam9" "00438604" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0055" "00464634" "" "" "" "1" "" "00764" "" "" "M" "yes" "Egypt" "" "" "" "" "" "2334_Case4" "00464635" "" "" "" "1" "" "00764" "" "" "M" "yes" "Egypt" "" "" "" "" "" "2335_Case4" "00464636" "" "" "" "1" "" "00764" "" "" "F" "yes" "Egypt" "" "" "" "" "" "2336_Case4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00029771" "04063" "00029856" "04063" "00418512" "00198" "00438604" "06906" "00464634" "05895" "00464635" "05895" "00464636" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04063, 04187, 05370, 05562, 05895, 06906, 06920 ## 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}}" "0000025736" "04063" "00029771" "01224" "Familial, autosomal recessive" "" "see paper; ...; primary ovarian insufficiency with complete lack of any pubertal development and streak gonads" "" "" "" "" "" "" "" "" "" "" "" "0000025784" "04063" "00029856" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000328507" "06906" "00438604" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000350624" "05895" "00464634" "00764" "Familial, autosomal recessive" "" "Male infertility (HP:0003251)" "" "" "" "" "" "" "" "" "Spermatogenic failure 61 (MIM: 619672)" "" "" "0000350625" "05895" "00464635" "00764" "Familial, autosomal recessive" "" "Male infertility (HP:0003251)" "" "" "" "" "" "" "" "" "Spermatogenic failure 61 (MIM: 619672)" "" "" "0000350626" "05370" "00464636" "00764" "Familial, autosomal recessive" "" "Female infertility (HP:0008222)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029814" "00029771" "1" "01224" "01224" "2015-02-08 00:02:12" "01224" "2015-02-16 10:35:39" "SEQ;SEQ-NG" "DNA" "" "" "0000029922" "00029856" "1" "00006" "00006" "2015-02-13 12:02:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000419807" "00418512" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000440086" "00438604" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000466280" "00464634" "1" "00764" "00764" "2025-04-04 22:33:13" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WGS (whole genome sequencing)" "0000466281" "00464635" "1" "00764" "00764" "2025-04-04 23:03:31" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" "0000466282" "00464636" "1" "00764" "00764" "2025-04-04 23:18:45" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000029814" "STAG3" "0000029922" "STAG3" "0000466280" "STAG3" "0000466281" "STAG3" "0000466282" "STAG3" ## 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 = 35 "{{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}}" "0000055900" "3" "70" "7" "99798478" "99798479" "dup" "0" "01224" "STAG3_000001" "g.99798478_99798479dup" "" "{PMID:Le Quesne Stabej 2016:26059840}, {DOI:Le Quesne Stabej 2016:10.1038/ejhg.2015.107}" "" "1947_48dupCT" "variant segregates with POI phenotype, unaffected sister homozygous for reference allele" "Germline" "yes" "" "0" "" "" "g.100200855_100200856dup" "" "likely pathogenic" "" "0000055994" "3" "90" "7" "99786486" "99786486" "del" "0" "00006" "STAG3_000002" "g.99786486del" "" "{PMID:Caburet 2014:24597867}, {DOI:Caburet 2014:10.1056/NEJMoa1309635}, {OMIM608489:0001}" "" "968delC" "" "Germline" "yes" "rs587777267" "0" "" "" "g.100188863del" "" "pathogenic" "" "0000058548" "3" "33" "7" "99796146" "99796146" "subst" "0.512577" "01224" "STAG3_000003" "g.99796146A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100198523A>C" "" "likely benign" "" "0000058551" "3" "33" "7" "99797031" "99797031" "subst" "0.325713" "01224" "STAG3_000004" "g.99797031C>G" "" "" "" "" "" "Germline" "" "rs2272345" "0" "" "" "g.100199408C>G" "" "likely benign" "" "0000058552" "0" "00" "7" "99799845" "99799845" "subst" "0.329464" "01224" "STAG3_000005" "g.99799845T>A" "" "" "" "" "" "Germline" "" "rs3982311" "0" "" "" "g.100202222T>A" "" "" "" "0000254710" "0" "30" "7" "99780457" "99780457" "subst" "8.13134E-6" "01943" "STAG3_000007" "g.99780457A>G" "" "" "" "STAG3(NM_001282717.1):c.331A>G (p.M111V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100182834A>G" "" "likely benign" "" "0000315764" "0" "30" "7" "99796940" "99796940" "subst" "1.2183E-5" "01943" "STAG3_000008" "g.99796940G>A" "" "" "" "STAG3(NM_001282717.1):c.1523G>A (p.R508Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100199317G>A" "" "likely benign" "" "0000315765" "0" "50" "7" "99802954" "99802954" "subst" "0" "01943" "STAG3_000009" "g.99802954C>T" "" "" "" "STAG3(NM_001282717.1):c.3185C>T (p.T1062I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100205331C>T" "" "VUS" "" "0000315766" "0" "30" "7" "99778263" "99778263" "subst" "1.62429E-5" "01943" "STAG3_000006" "g.99778263T>C" "" "" "" "STAG3(NM_001282717.1):c.84T>C (p.F28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100180640T>C" "" "likely benign" "" "0000533188" "0" "30" "7" "99797240" "99797240" "subst" "0" "01943" "PVRIG_000001" "g.99797240G>A" "" "" "" "STAG3(NM_001282717.1):c.1650G>A (p.P550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100199617G>A" "" "likely benign" "" "0000533189" "0" "30" "7" "99808701" "99808701" "subst" "0" "01943" "PVRIG_000002" "g.99808701C>G" "" "" "" "STAG3(NM_001282717.1):c.3306C>G (p.I1102M), STAG3(NM_012447.2):c.3306C>G (p.(Ile1102Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100211078C>G" "" "likely benign" "" "0000533190" "0" "50" "7" "99808708" "99808708" "subst" "0" "01943" "PVRIG_000003" "g.99808708A>C" "" "" "" "STAG3(NM_001282717.1):c.3313A>C (p.T1105P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100211085A>C" "" "VUS" "" "0000611347" "0" "30" "7" "99808701" "99808701" "subst" "0" "01804" "PVRIG_000002" "g.99808701C>G" "" "" "" "STAG3(NM_001282717.1):c.3306C>G (p.I1102M), STAG3(NM_012447.2):c.3306C>G (p.(Ile1102Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100211078C>G" "" "likely benign" "" "0000611348" "0" "30" "7" "99808704" "99808704" "subst" "0" "01943" "PVRIG_000005" "g.99808704G>C" "" "" "" "STAG3(NM_001282717.1):c.3309G>C (p.P1103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100211081G>C" "" "likely benign" "" "0000611349" "0" "50" "7" "99808714" "99808714" "subst" "0" "01943" "PVRIG_000004" "g.99808714A>C" "" "" "" "STAG3(NM_001282717.1):c.3319A>C (p.T1107P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100211091A>C" "" "VUS" "" "0000655944" "0" "30" "7" "99795505" "99795505" "dup" "0" "01943" "PVRIG_000006" "g.99795505dup" "" "" "" "STAG3(NM_001282717.1):c.1164+6dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100197882dup" "" "likely benign" "" "0000678239" "0" "50" "7" "99809499" "99809499" "subst" "0.000646536" "01943" "PVRIG_000007" "g.99809499G>A" "" "" "" "STAG3(NM_001282717.1):c.3600G>A (p.M1200I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690118" "0" "50" "7" "99800128" "99800128" "subst" "0.000142183" "01943" "PVRIG_000008" "g.99800128G>A" "" "" "" "STAG3(NM_001282717.1):c.2615G>A (p.R872H), STAG3(NM_012447.4):c.2615G>A (p.R872H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690119" "0" "30" "7" "99802331" "99802331" "subst" "0.000617464" "01804" "PVRIG_000009" "g.99802331C>T" "" "" "" "STAG3(NM_012447.2):c.2884C>T (p.(Arg962Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721633" "0" "30" "7" "99799574" "99799574" "subst" "0" "01943" "PVRIG_000010" "g.99799574G>A" "" "" "" "STAG3(NM_001282717.1):c.2304G>A (p.K768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721634" "0" "30" "7" "99808710" "99808710" "subst" "0" "01943" "PVRIG_000011" "g.99808710G>C" "" "" "" "STAG3(NM_001282717.1):c.3315G>C (p.T1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803329" "0" "30" "7" "99786108" "99786108" "subst" "0.000816237" "01943" "STAG3_000010" "g.99786108T>C" "" "" "" "STAG3(NM_001282717.1):c.466T>C (p.S156P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803330" "0" "50" "7" "99801713" "99801713" "subst" "0" "01943" "PVRIG_000012" "g.99801713T>C" "" "" "" "STAG3(NM_001282717.1):c.2770T>C (p.C924R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000879974" "0" "70" "7" "99796995" "99796995" "subst" "8.1246E-6" "00006" "STAG3_000011" "g.99796995G>A" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PP4, PS3" "Germline/De novo (untested)" "" "" "0" "" "" "g.100199372G>A" "" "likely pathogenic" "ACMG" "0000888070" "0" "30" "7" "99778300" "99778300" "subst" "0" "02325" "GPC2_000001" "g.99778300G>A" "" "" "" "STAG3(NM_012447.4):c.116+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888071" "0" "50" "7" "99800128" "99800128" "subst" "0.000142183" "02325" "PVRIG_000008" "g.99800128G>A" "" "" "" "STAG3(NM_001282717.1):c.2615G>A (p.R872H), STAG3(NM_012447.4):c.2615G>A (p.R872H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936244" "0" "50" "7" "99792992" "99792992" "subst" "8.12407E-6" "00006" "STAG3_000012" "g.99792992G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_012447:c.G928A (V310I)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000948979" "0" "50" "7" "99794820" "99794820" "subst" "4.69933E-5" "02325" "PVRIG_000013" "g.99794820T>C" "" "" "" "STAG3(NM_012447.4):c.983T>C (p.I328T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948980" "0" "50" "7" "99798530" "99798530" "subst" "0.00100435" "02325" "PVRIG_000014" "g.99798530C>T" "" "" "" "STAG3(NM_012447.4):c.1999C>T (p.R667C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014395" "0" "50" "7" "99796885" "99796885" "subst" "0.00020745" "02325" "PVRIG_000015" "g.99796885C>T" "" "" "" "STAG3(NM_012447.4):c.1468C>T (p.L490F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030203" "3" "70" "7" "99797189" "99797190" "del" "0" "00764" "STAG3_000013" "g.99797189_99797190del" "" "" "" "99797185GCA>G" "" "Germline" "yes" "" "0" "" "" "g.100199566_100199567del" "" "likely pathogenic" "ACMG" "0001030204" "3" "70" "7" "99797189" "99797190" "del" "0" "00764" "STAG3_000013" "g.99797189_99797190del" "" "" "" "99797185GCA>G" "" "Germline" "yes" "" "0" "" "" "g.100199566_100199567del" "" "likely pathogenic" "ACMG" "0001030205" "3" "70" "7" "99797189" "99797190" "del" "0" "00764" "STAG3_000013" "g.99797189_99797190del" "" "" "" "99797185GCA>G" "" "Germline" "yes" "" "0" "" "" "g.100199566_100199567del" "" "likely pathogenic" "ACMG" "0001036638" "0" "50" "7" "99786129" "99786129" "subst" "4.06075E-6" "02325" "STAG3_000014" "g.99786129C>T" "" "" "" "STAG3(NM_012447.4):c.487C>T (p.H163Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036639" "0" "50" "7" "99808689" "99808689" "subst" "0.00033867" "01804" "PVRIG_000016" "g.99808689G>T" "" "" "" "STAG3(NM_001282717.2):c.3294G>T (p.(Gln1098His))" "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 STAG3 ## Count = 35 "{{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}}" "0000055900" "00020412" "99" "1947" "0" "1948" "0" "c.1947_1948dup" "r.(?)" "p.(Tyr650Serfs*22)" "19" "0000055994" "00020412" "90" "562" "0" "562" "0" "c.562del" "r.(?)" "p.(Gln188Argfs*8)" "7" "0000058548" "00020412" "73" "1293" "0" "1293" "0" "c.1293A>C" "r.(?)" "p.(Pro431=)" "" "0000058551" "00020412" "33" "1573" "41" "1573" "41" "c.1573+41C>G" "r.(=)" "p.(=)" "" "0000058552" "00020412" "00" "2445" "0" "2445" "0" "c.2445T>A" "r.(=)" "p.(=)" "" "0000254710" "00020412" "30" "331" "0" "331" "0" "c.331A>G" "r.(?)" "p.(Met111Val)" "" "0000315764" "00020412" "30" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Gln)" "" "0000315765" "00020412" "50" "3185" "0" "3185" "0" "c.3185C>T" "r.(?)" "p.(Thr1062Ile)" "" "0000315766" "00020412" "30" "84" "0" "84" "0" "c.84T>C" "r.(?)" "p.(Phe28=)" "" "0000533188" "00020412" "30" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Pro550=)" "" "0000533189" "00020412" "30" "3306" "0" "3306" "0" "c.3306C>G" "r.(?)" "p.(Ile1102Met)" "" "0000533190" "00020412" "50" "3313" "0" "3313" "0" "c.3313A>C" "r.(?)" "p.(Thr1105Pro)" "" "0000611347" "00020412" "30" "3306" "0" "3306" "0" "c.3306C>G" "r.(?)" "p.(Ile1102Met)" "" "0000611348" "00020412" "30" "3309" "0" "3309" "0" "c.3309G>C" "r.(?)" "p.(Pro1103=)" "" "0000611349" "00020412" "50" "3319" "0" "3319" "0" "c.3319A>C" "r.(?)" "p.(Thr1107Pro)" "" "0000655944" "00020412" "30" "1164" "6" "1164" "6" "c.1164+6dup" "r.(=)" "p.(=)" "" "0000678239" "00020412" "50" "3597" "0" "3597" "0" "c.3597G>A" "r.(?)" "p.(Met1199Ile)" "" "0000690118" "00020412" "50" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "" "0000690119" "00020412" "30" "2884" "0" "2884" "0" "c.2884C>T" "r.(?)" "p.(Arg962Trp)" "" "0000721633" "00020412" "30" "2304" "0" "2304" "0" "c.2304G>A" "r.(?)" "p.(Lys768=)" "" "0000721634" "00020412" "30" "3315" "0" "3315" "0" "c.3315G>C" "r.(?)" "p.(Thr1105=)" "" "0000803329" "00020412" "30" "466" "0" "466" "0" "c.466T>C" "r.(?)" "p.(Ser156Pro)" "" "0000803330" "00020412" "50" "2770" "0" "2770" "0" "c.2770T>C" "r.(?)" "p.(Cys924Arg)" "" "0000879974" "00020412" "70" "1573" "5" "1573" "5" "c.1573+5G>A" "r.1468_1573del" "p.Leu490Thrfs*10" "" "0000888070" "00020412" "30" "116" "5" "116" "5" "c.116+5G>A" "r.spl?" "p.?" "" "0000888071" "00020412" "50" "2615" "0" "2615" "0" "c.2615G>A" "r.(?)" "p.(Arg872His)" "" "0000936244" "00020412" "50" "928" "0" "928" "0" "c.928G>A" "" "" "" "0000948979" "00020412" "50" "983" "0" "983" "0" "c.983T>C" "r.(?)" "p.(Ile328Thr)" "" "0000948980" "00020412" "50" "1999" "0" "1999" "0" "c.1999C>T" "r.(?)" "p.(Arg667Cys)" "" "0001014395" "00020412" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Leu490Phe)" "" "0001030203" "00020412" "70" "1599" "0" "1600" "0" "c.1599_1600del" "r.(1599_1600del)" "p.(Leu534Aspfs*30)" "" "0001030204" "00020412" "70" "1599" "0" "1600" "0" "c.1599_1600del" "r.(1599_1600del)" "p.(Leu534Aspfs*30)" "" "0001030205" "00020412" "70" "1599" "0" "1600" "0" "c.1599_1600del" "r.(1599_1600del)" "p.(Leu534Aspfs*30)" "" "0001036638" "00020412" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(His163Tyr)" "" "0001036639" "00020412" "50" "3294" "0" "3294" "0" "c.3294G>T" "r.(?)" "p.(Gln1098His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000029814" "0000055900" "0000029814" "0000058548" "0000029814" "0000058551" "0000029814" "0000058552" "0000029922" "0000055994" "0000419807" "0000879974" "0000440086" "0000936244" "0000466280" "0001030203" "0000466281" "0001030204" "0000466282" "0001030205"