### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PATL2) # 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}}" "PATL2" "protein associated with topoisomerase II homolog 2 (yeast)" "15" "q21.1" "unknown" "NC_000015.9" "UD_136022738318" "" "https://www.LOVD.nl/PATL2" "" "1" "33630" "197135" "614661" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-29 16:06:42" "00000" "2025-11-01 13:22:20" ## 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}}" "00015700" "PATL2" "protein associated with topoisomerase II homolog 2 (yeast)" "001" "NM_001145112.1" "" "NP_001138584.1" "" "" "" "-98" "1853" "1632" "44969086" "44957930" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05371" "OZEMA4;OOMD" "ocyte/zygote/embryo maturation arrest, type 4" "AR" "617743" "" "" "" "00006" "2017-12-29 16:09:45" "00006" "2024-11-08 11:48:51" "05450" "OZEMA;OOMD" "ocyte/zygote/embryo maturation arrest" "" "" "" "" "" "00006" "2018-07-09 09:38:13" "00006" "2024-11-08 11:43:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PATL2" "05371" "PATL2" "05450" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00147040" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28965849}" "2-generation family, 1 affected" "F" "" "China" "" "0" "" "" "" "28965849-Fam1" "00147041" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28965849}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "28965849-Fam2" "00147042" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28965849}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "28965849-Fam3" "00147043" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28965849}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "28965849-Fam4" "00147044" "" "" "" "1" "" "00006" "{PMID:Chen 2017:28965849}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "28965849-Fam5" "00147045" "" "" "" "2" "" "00006" "{PMID:Maddirevula 2017:28965844}" "6-generation family, 2 affected sisters, unaffected non-carrier parents/relatives" "F" "" "China" "" "0" "" "" "" "28965844-Fam1" "00147046" "" "" "" "2" "" "00006" "{PMID:Maddirevula 2017:28965844}" "2-generation family, 2 affected sisters, unaffected non-carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "28965844-Fam2" "00457441" "" "" "" "1" "" "00006" "{PMID:Huang 2022:35091966}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/sister" "F" "no" "China" "" "0" "" "" "" "Pat2" "00464631" "" "" "" "1" "" "00764" "" "" "F" "?" "Palestine" "" "0" "" "" "" "1887_Case2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00147040" "05370" "00147041" "05370" "00147042" "05370" "00147043" "05370" "00147044" "05370" "00147045" "05370" "00457441" "05370" "00464631" "05370" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05370, 05371, 05450 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000119757" "05370" "00147040" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000119758" "05370" "00147041" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000119759" "05370" "00147042" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000119760" "05370" "00147043" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000119761" "05370" "00147044" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000119762" "05370" "00147045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000119763" "05370" "00147046" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "OOMD-4" "female infertility, oocyte maturation arrest" "0000345905" "05370" "00457441" "00006" "Familial, autosomal recessive" "41y" "see paper; ..., infertility due to oocyte maturation arrest" "" "" "" "" "" "" "" "OZEMA4" "female infertility" "0000350621" "05370" "00464631" "00764" "Unknown" "" "Female infertility (HP:0008222)" "" "" "" "" "" "" "" "Oocyte maturation arrest (617743)" "infertility" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147896" "00147040" "1" "00006" "00006" "2017-12-29 16:29:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147897" "00147041" "1" "00006" "00006" "2017-12-29 16:29:16" "" "" "SEQ" "DNA" "" "" "0000147898" "00147042" "1" "00006" "00006" "2017-12-29 16:29:16" "" "" "SEQ" "DNA" "" "" "0000147899" "00147043" "1" "00006" "00006" "2017-12-29 16:29:16" "" "" "SEQ" "DNA" "" "" "0000147900" "00147044" "1" "00006" "00006" "2017-12-29 16:29:16" "00006" "2017-12-29 16:55:40" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000147901" "00147045" "1" "00006" "00006" "2017-12-29 16:29:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000147902" "00147046" "1" "00006" "00006" "2017-12-29 16:29:16" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459062" "00457441" "1" "00006" "00006" "2024-11-11 16:27:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466277" "00464631" "1" "00764" "00764" "2025-04-04 20:27:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000147896" "PATL2" "0000147897" "PATL2" "0000147898" "PATL2" "0000147899" "PATL2" "0000147900" "PATL2" "0000147901" "PATL2" "0000147902" "PATL2" "0000466277" "PATL2" ## 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}}" "0000241152" "3" "90" "15" "44964623" "44964623" "subst" "3.36175E-5" "00006" "PATL2_000001" "g.44964623G>A" "" "{PMID:Maddirevula 2017:28965844}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44672425G>A" "" "pathogenic" "" "0000241153" "3" "90" "15" "44961294" "44961294" "subst" "0" "00006" "PATL2_000002" "g.44961294C>T" "" "{PMID:Maddirevula 2017:28965844}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44669096C>T" "" "pathogenic" "" "0000241154" "3" "90" "15" "44962067" "44962067" "subst" "0" "00006" "PATL2_000003" "g.44962067G>A" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44669869G>A" "" "pathogenic" "" "0000241155" "11" "90" "15" "44966430" "44966442" "del" "0.000197548" "00006" "PATL2_000004" "g.44966430_44966442del" "" "{PMID:Chen 2017:28965849}" "" "23-14_223-2delCCCTCCTGTTCCA" "" "Germline" "yes" "" "0" "" "" "g.44674232_44674244del" "" "pathogenic" "" "0000241156" "21" "90" "15" "44964312" "44964312" "subst" "0" "00006" "PATL2_000005" "g.44964312A>T" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "yes" "" "0" "" "" "g.44672114A>T" "" "pathogenic" "" "0000241157" "11" "90" "15" "44961589" "44961589" "subst" "6.72794E-6" "00006" "PATL2_000006" "g.44961589A>G" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "" "" "0" "" "" "g.44669391A>G" "" "pathogenic" "" "0000241158" "21" "90" "15" "44962012" "44962012" "subst" "5.38119E-5" "00006" "PATL2_000007" "g.44962012C>T" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "" "" "0" "" "" "g.44669814C>T" "" "pathogenic" "" "0000241159" "11" "90" "15" "44964304" "44964304" "subst" "6.72368E-6" "00006" "PATL2_000008" "g.44964304A>C" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "" "" "0" "" "" "g.44672106A>C" "" "pathogenic" "" "0000241160" "21" "90" "15" "44964221" "44964221" "subst" "6.72558E-6" "00006" "PATL2_000009" "g.44964221A>T" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "" "" "0" "" "" "g.44672023A>T" "" "pathogenic" "" "0000241161" "21" "90" "15" "44966430" "44966442" "del" "0.000197548" "00006" "PATL2_000004" "g.44966430_44966442del" "" "{PMID:Chen 2017:28965849}" "" "223-14_223-2delCCCTCCTGTTCC" "" "Germline" "" "" "0" "" "" "g.44674232_44674244del" "" "pathogenic" "" "0000241162" "11" "90" "15" "44961176" "44961176" "subst" "0" "00006" "PATL2_000010" "g.44961176A>G" "" "{PMID:Chen 2017:28965849}" "" "" "" "Germline" "" "" "0" "" "" "g.44668978A>G" "" "pathogenic" "" "0000299684" "0" "30" "15" "44955830" "44955830" "subst" "0.00126895" "02329" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663632C>T" "" "likely benign" "" "0000299685" "0" "30" "15" "44955670" "44955670" "subst" "0.00180496" "02329" "SPG11_000101" "g.44955670G>A" "" "" "" "SPG11(NM_025137.3):c.176C>T (p.A59V), SPG11(NM_025137.4):c.176C>T (p.A59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663472G>A" "" "likely benign" "" "0000299691" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02329" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663378C>T" "" "likely benign" "" "0000302415" "0" "10" "15" "44955823" "44955823" "subst" "5.73521E-5" "02326" "SPG11_000103" "g.44955823G>C" "" "" "" "SPG11(NM_025137.4):c.23C>G (p.A8G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663625G>C" "" "benign" "" "0000302416" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02326" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663378C>T" "" "likely benign" "" "0000302420" "0" "10" "15" "44955803" "44955803" "subst" "0" "02326" "SPG11_000102" "g.44955803C>T" "" "" "" "SPG11(NM_025137.4):c.43G>A (p.G15S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663605C>T" "" "benign" "" "0000308779" "0" "30" "15" "44955670" "44955670" "subst" "0.00180496" "01943" "SPG11_000101" "g.44955670G>A" "" "" "" "SPG11(NM_025137.3):c.176C>T (p.A59V), SPG11(NM_025137.4):c.176C>T (p.A59V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44663472G>A" "" "likely benign" "" "0000554444" "0" "30" "15" "44955572" "44955572" "subst" "0.000822481" "02329" "EIF3J_000050" "g.44955572T>C" "" "" "" "SPG11(NM_025137.4):c.257+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663374T>C" "" "likely benign" "" "0000554445" "0" "30" "15" "44955823" "44955823" "subst" "5.73521E-5" "02330" "SPG11_000103" "g.44955823G>C" "" "" "" "SPG11(NM_025137.4):c.23C>G (p.A8G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663625G>C" "" "likely benign" "" "0000554446" "0" "50" "15" "44955830" "44955830" "subst" "0.00126895" "02330" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663632C>T" "" "VUS" "" "0000554447" "0" "30" "15" "44955830" "44955830" "subst" "0.00126895" "01943" "SPG11_000104" "g.44955830C>T" "" "" "" "SPG11(NM_025137.3):c.16G>A (p.G6R), SPG11(NM_025137.4):c.16G>A (p.G6R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663632C>T" "" "likely benign" "" "0000615336" "0" "50" "15" "44955780" "44955780" "subst" "0" "02326" "EIF3J_000068" "g.44955780C>T" "" "" "" "SPG11(NM_025137.4):c.66G>A (p.M22I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663582C>T" "" "VUS" "" "0000615337" "0" "30" "15" "44955798" "44955798" "subst" "0" "02326" "EIF3J_000069" "g.44955798G>A" "" "" "" "SPG11(NM_025137.4):c.48C>T (p.S16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663600G>A" "" "likely benign" "" "0000657584" "0" "30" "15" "44955574" "44955574" "subst" "1.81163E-5" "02329" "EIF3J_000073" "g.44955574T>C" "" "" "" "SPG11(NM_025137.4):c.257+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44663376T>C" "" "likely benign" "" "0000680181" "0" "30" "15" "44965528" "44965528" "subst" "0" "01943" "PATL2_000011" "g.44965528G>A" "" "" "" "PATL2(NM_001145112.1):c.351C>T (p.S117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680182" "0" "30" "15" "44965529" "44965529" "subst" "0" "01943" "PATL2_000012" "g.44965529C>T" "" "" "" "PATL2(NM_001145112.1):c.350G>A (p.S117N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806704" "0" "30" "15" "44955650" "44955650" "subst" "0" "01943" "EIF3J_000093" "g.44955650G>A" "" "" "" "SPG11(NM_025137.3):c.196C>T (p.L66F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863853" "0" "30" "15" "44955576" "44955576" "subst" "0.000536253" "02330" "SPG11_000100" "g.44955576C>T" "" "" "" "SPG11(NM_025137.4):c.257+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967783" "0" "50" "15" "44955818" "44955818" "subst" "0.000114762" "02330" "EIF3J_000108" "g.44955818C>T" "" "" "" "SPG11(NM_025137.4):c.28G>A (p.A10T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001430" "0" "50" "15" "44955802" "44955802" "subst" "0.00011059" "01804" "EIF3J_000115" "g.44955802C>T" "" "" "" "SPG11(NM_025137.3):c.44G>A (p.(Gly15Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016779" "21" "90" "15" "44966430" "44966442" "del" "0.000197548" "00006" "PATL2_000004" "g.44966430_44966442del" "" "{PMID:Huang 2022:35091966}" "" "223-14_223-2delCCCTCCTGTTCCA" "" "Germline" "" "rs769276313" "0" "" "" "g.44674232_44674244del" "" "pathogenic (recessive)" "" "0001016780" "10" "90" "15" "44961748" "44961748" "del" "0" "00006" "PATL2_000013" "g.44961748del" "" "{PMID:Huang 2022:35091966}" "" "890delC" "" "De novo" "" "" "0" "" "" "g.44669550del" "" "pathogenic (recessive)" "" "0001030200" "3" "70" "15" "44959380" "44959380" "subst" "0" "00764" "PATL2_000014" "g.44959380C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.44667182C>G" "" "VUS" "ACMG" "0001055085" "0" "30" "15" "44955786" "44955786" "subst" "1.45831E-5" "01804" "EIF3J_000130" "g.44955786C>T" "" "" "" "SPG11(NM_025137.4):c.60G>A (p.(Ala20=))" "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 PATL2 ## 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}}" "0000241152" "00015700" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "" "0000241153" "00015700" "90" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Gly370Arg)" "" "0000241154" "00015700" "90" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Arg262*)" "" "0000241155" "00015700" "90" "223" "-14" "223" "-2" "c.223-14_223-2del" "r.spl" "p.?" "" "0000241156" "00015700" "90" "558" "0" "558" "0" "c.558T>A" "r.(?)" "p.(Tyr186*)" "" "0000241157" "00015700" "90" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Ile318Thr)" "" "0000241158" "00015700" "90" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280Gln)" "" "0000241159" "00015700" "90" "566" "0" "566" "0" "c.566T>G" "r.(?)" "p.(.Leu189Arg)" "" "0000241160" "00015700" "90" "649" "0" "649" "0" "c.649T>A" "r.(?)" "p.(Tyr217Asn)" "" "0000241161" "00015700" "90" "223" "-14" "223" "-2" "c.223-14_223-2del" "r.222_223ins[223-62_223-15;g]" "p. Arg75Valfs*21" "3i" "0000241162" "00015700" "90" "1224" "2" "1224" "2" "c.1224+2T>C" "r.[1224_1225ins[gu;1224+3_1224+43], 1225_1365delins[gu;1224+3_1224+43]]" "p.Gln411Trpfs*3" "12i" "0000299684" "00015700" "30" "3953" "0" "3953" "0" "c.*2321G>A" "r.(=)" "p.(=)" "" "0000299685" "00015700" "30" "4113" "0" "4113" "0" "c.*2481C>T" "r.(=)" "p.(=)" "" "0000299691" "00015700" "30" "4207" "0" "4207" "0" "c.*2575G>A" "r.(=)" "p.(=)" "" "0000302415" "00015700" "10" "3960" "0" "3960" "0" "c.*2328C>G" "r.(=)" "p.(=)" "" "0000302416" "00015700" "30" "4207" "0" "4207" "0" "c.*2575G>A" "r.(=)" "p.(=)" "" "0000302420" "00015700" "10" "3980" "0" "3980" "0" "c.*2348G>A" "r.(=)" "p.(=)" "" "0000308779" "00015700" "30" "4113" "0" "4113" "0" "c.*2481C>T" "r.(=)" "p.(=)" "" "0000554444" "00015700" "30" "4211" "0" "4211" "0" "c.*2579A>G" "r.(=)" "p.(=)" "" "0000554445" "00015700" "30" "3960" "0" "3960" "0" "c.*2328C>G" "r.(=)" "p.(=)" "" "0000554446" "00015700" "50" "3953" "0" "3953" "0" "c.*2321G>A" "r.(=)" "p.(=)" "" "0000554447" "00015700" "30" "3953" "0" "3953" "0" "c.*2321G>A" "r.(=)" "p.(=)" "" "0000615336" "00015700" "50" "4003" "0" "4003" "0" "c.*2371G>A" "r.(=)" "p.(=)" "" "0000615337" "00015700" "30" "3985" "0" "3985" "0" "c.*2353C>T" "r.(=)" "p.(=)" "" "0000657584" "00015700" "30" "4209" "0" "4209" "0" "c.*2577A>G" "r.(=)" "p.(=)" "" "0000680181" "00015700" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Ser117=)" "" "0000680182" "00015700" "30" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Ser117Asn)" "" "0000806704" "00015700" "30" "4133" "0" "4133" "0" "c.*2501C>T" "r.(=)" "p.(=)" "" "0000863853" "00015700" "30" "4207" "0" "4207" "0" "c.*2575G>A" "r.(=)" "p.(=)" "" "0000967783" "00015700" "50" "3965" "0" "3965" "0" "c.*2333G>A" "r.(=)" "p.(=)" "" "0001001430" "00015700" "50" "3981" "0" "3981" "0" "c.*2349G>A" "r.(=)" "p.(=)" "" "0001016779" "00015700" "90" "223" "-14" "223" "-2" "c.223-14_223-2del" "r.spl" "p.(Arg75Valfs*21)" "" "0001016780" "00015700" "90" "890" "0" "890" "0" "c.890del" "r.(?)" "p.(Ala297Glufs*20)" "" "0001030200" "00015700" "70" "1387" "0" "1387" "0" "c.1387G>C" "r.(1387G>C)" "p.(Ala463Pro)" "" "0001055085" "00015700" "30" "3997" "0" "3997" "0" "c.*2365G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000147896" "0000241154" "0000147897" "0000241155" "0000147897" "0000241156" "0000147898" "0000241157" "0000147898" "0000241158" "0000147899" "0000241159" "0000147899" "0000241160" "0000147900" "0000241161" "0000147900" "0000241162" "0000147901" "0000241152" "0000147902" "0000241153" "0000459062" "0001016779" "0000459062" "0001016780" "0000466277" "0001030200"