### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MED25) # 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}}" "MED25" "mediator complex subunit 25" "19" "q13.3" "unknown" "NG_017091.1" "UD_132119073391" "" "http://www.LOVD.nl/MED25" "" "1" "28845" "81857" "610197" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/MED25_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-01-27 22:51:16" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011974" "MED25" "mediator complex subunit 25" "001" "NM_030973.3" "" "NP_112235.2" "" "" "" "-63" "2280" "2244" "50321536" "50340237" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "02557" "CMT2B2" "Charcot-Marie-Tooth disease, axonal, type 2B2" "AR" "605589" "" "onset adulthood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), no cognitive impairment (-HP:0100543), no dystonia (-HP:0001332)" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-10 21:15:06" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "04573" "BVSYS" "Basel-Vanagait-Smirin-Yosef syndrome (BVSYS)" "AR" "616449" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05111" "HMN" "neuropathy, motor, distal, hereditary (HMN)" "" "" "" "" "" "00006" "2016-01-11 01:33:03" "00006" "2016-03-20 12:15:43" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05122" "HSN" "neuropathy, sensory, hereditary (HSN)" "" "" "" "" "" "00006" "2016-01-24 01:36:12" "00006" "2020-04-22 19:42:45" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MED25" "04573" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00029692" "" "" "" "6" "" "00006" "{PMID:Figueiredo 2015:25527630}, {DOI:Figueiredo 2015:10.1136/jmedgenet-2014-102793}" "5-generation family, 7 affecteds (5F, 2M), 6 unaffected carriers" "" "yes" "Brazil" "" "0" "" "" "" "" "00029693" "" "" "" "20" "" "00006" "{PMID:Leal 2009:19290556}, {DOI:Leal 2009:10.1007/s10048-009-0183-3}" "12-generation family, >20 affecteds, unaffected carriers" "" "yes" "Costa Rica" "" "0" "" "" "Spanish, Amerindian" "" "00207790" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00292180" "" "" "" "55" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00300009" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-MED25-a" "00300084" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat13" "00300133" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-MED25-b" "00300143" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-MED25-c" "00300156" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-MED25-e" "00300158" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-MED25-f" "00300159" "" "" "" "1" "" "00006" "{PMID:Antoniadi 2015:26392352}" "analysis 448 inherited peripheral neuropathy cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat-MED25-g" "00398776" "" "" "" "1" "" "04188" "{PMID:Ferese 2021:34354735}" "2-generation family, 1 affected, family members unavailable for testing" "F" "" "Italy" ">53y" "" "" "" "" "608" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00029692" "04147" "00029693" "02557" "00292180" "00198" "00300009" "05113" "00300084" "05111" "00300133" "00199" "00300143" "00199" "00300156" "05122" "00300158" "05122" "00300159" "05384" "00398776" "02557" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 02557, 04147, 04573, 05111, 05113, 05122, 05384 ## Count = 11 "{{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}}" "0000025703" "04147" "00029692" "00006" "Familial, autosomal recessive" "" "see paper; ID moderate (2x)/severe (5x), all illiterate, never attended regular school; facial dysmorphism tall forehead, prognatism, prominent chin, very large/ overhanging nose" "" "" "" "" "" "" "" "" "" "" "" "0000025704" "02557" "00029693" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000155573" "00198" "00207790" "01164" "Unknown" "" "HP:0001761 (Pes cavus); HP:0007141 (Sensorimotor neuropathy); HP:0001251 (Ataxia)" "" "" "" "" "" "" "" "" "" "" "" "0000227330" "05113" "00300009" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT1" "" "0000227405" "05111" "00300084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditar motor neuropathy" "" "0000227454" "00199" "00300133" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227464" "00199" "00300143" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "CMT2" "" "0000227477" "05122" "00300156" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227479" "05122" "00300158" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hereditary sensory neuropathy" "" "0000227480" "05384" "00300159" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "complex inherited peripheral neuropathy" "" "0000291860" "02557" "00398776" "04188" "Familial, autosomal recessive" "53y" "Peripheral neuropathy (HP:0009830), no decreased nerve conduction velocity (-HP:0000762)" "50y" "" "Peripheral neuropathy (HP:0009830), no decreased nerve conduction velocity (-HP:0000762)" "" "" "" "" "" "" "CMT" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029739" "00029692" "1" "00006" "00006" "2015-01-27 22:52:04" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000029740" "00029693" "1" "00006" "00006" "2015-01-27 23:08:35" "" "" "arraySNP;SEQ" "DNA" "" "" "0000208831" "00207790" "1" "01164" "01164" "2018-11-30 14:38:30" "" "" "SEQ-NG" "DNA" "" "" "0000293348" "00292180" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000301125" "00300009" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301200" "00300084" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301249" "00300133" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301259" "00300143" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301272" "00300156" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301274" "00300158" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000301275" "00300159" "1" "00006" "00006" "2020-04-22 19:54:00" "" "" "SEQ" "DNA" "" "56-gene neuropathy panel" "0000400017" "00398776" "1" "04188" "04188" "2022-01-12 13:35:48" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000029739" "MED25" "0000029740" "MED25" "0000029740" "NR1H2" "0000301125" "MED25" "0000301200" "MED25" "0000301200" "PMP22" "0000301249" "MED25" "0000301259" "MED25" "0000301272" "MED25" "0000301274" "MED25" "0000301275" "MED25" "0000400017" "MED25" ## 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 = 71 "{{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}}" "0000053149" "3" "90" "19" "50332240" "50332240" "subst" "1.21871E-5" "00006" "MED25_000001" "g.50332240C>T" "" "{PMID:Figueiredo 2015:25527630}, {DOI:Figueiredo 2015:10.1136/jmedgenet-2014-102793}" "" "" "homozygosity mapping, whole exome sequencing; not in 1216 control chromosomes" "Germline" "yes" "" "0" "" "" "g.49828983C>T" "" "pathogenic" "" "0000053150" "3" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Leal 2009:19290556}, {DOI:Leal 2009:10.1007/s10048-009-0183-3}, {OMIM610197:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49830790C>T" "" "pathogenic" "" "0000247607" "0" "10" "19" "50321587" "50321587" "subst" "0.00705618" "02330" "MED25_000003" "g.50321587A>G" "" "" "" "MED25(NM_030973.4):c.-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49818330A>G" "" "benign" "" "0000279642" "0" "50" "19" "50321598" "50321598" "subst" "0" "02330" "MED25_000004" "g.50321598T>G" "" "" "" "MED25(NM_030973.4):c.-1T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49818341T>G" "" "VUS" "" "0000279643" "0" "30" "19" "50334047" "50334047" "subst" "0.00385562" "02330" "MED25_000002" "g.50334047C>T" "" "" "" "MED25(NM_030973.3):c.1004C>T (p.A335V), MED25(NM_030973.4):c.1004C>T (p.A335V, p.(Ala335Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49830790C>T" "" "likely benign" "" "0000279644" "0" "30" "19" "50334081" "50334081" "subst" "2.87574E-5" "02330" "MED25_000011" "g.50334081G>T" "" "" "" "MED25(NM_030973.4):c.1038G>T (p.L346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49830824G>T" "" "likely benign" "" "0000279646" "0" "30" "19" "50334148" "50334148" "subst" "0.000156709" "02330" "MED25_000012" "g.50334148G>A" "" "" "" "MED25(NM_030973.4):c.1101+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49830891G>A" "" "likely benign" "" "0000279647" "0" "10" "19" "50338236" "50338236" "subst" "0.0173876" "02330" "MED25_000014" "g.50338236C>T" "" "" "" "MED25(NM_030973.3):c.1483-7C>T, MED25(NM_030973.4):c.1483-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49834979C>T" "" "benign" "" "0000279648" "0" "10" "19" "50321858" "50321858" "subst" "0.0356696" "02330" "MED25_000005" "g.50321858G>A" "" "" "" "MED25(NM_030973.4):c.165G>A (p.T55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49818601G>A" "" "benign" "" "0000279649" "0" "10" "19" "50338453" "50338453" "subst" "0.115849" "02330" "MED25_000015" "g.50338453C>T" "" "" "" "MED25(NM_030973.4):c.1674+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49835196C>T" "" "benign" "" "0000279650" "0" "30" "19" "50338843" "50338843" "subst" "0.00658328" "02330" "MED25_000018" "g.50338843C>G" "" "" "" "MED25(NM_030973.4):c.1727C>G (p.A576G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49835586C>G" "" "likely benign" "" "0000279651" "0" "10" "19" "50339031" "50339031" "subst" "0.00719043" "02330" "MED25_000019" "g.50339031C>T" "" "" "" "MED25(NM_030973.4):c.1794C>T (p.A598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49835774C>T" "" "benign" "" "0000279652" "0" "10" "19" "50339548" "50339548" "subst" "0.00814641" "02330" "MED25_000020" "g.50339548G>A" "" "" "" "MED25(NM_030973.4):c.2031G>A (p.A677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49836291G>A" "" "benign" "" "0000279653" "0" "30" "19" "50333757" "50333757" "subst" "4.06557E-6" "02330" "MED25_000008" "g.50333757T>G" "" "" "" "MED25(NM_030973.4):c.820-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49830500T>G" "" "likely benign" "" "0000279654" "0" "10" "19" "50333985" "50333985" "subst" "8.1632E-6" "02330" "MED25_000010" "g.50333985C>G" "" "" "" "MED25(NM_030973.4):c.942C>G (p.P314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49830728C>G" "" "benign" "" "0000286234" "0" "10" "19" "50338236" "50338236" "subst" "0.0173876" "02326" "MED25_000014" "g.50338236C>T" "" "" "" "MED25(NM_030973.3):c.1483-7C>T, MED25(NM_030973.4):c.1483-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49834979C>T" "" "benign" "" "0000326730" "0" "50" "19" "50322523" "50322523" "subst" "0.000682256" "01804" "MED25_000006" "g.50322523A>T" "" "" "" "MED25(NM_030973.3):c.275A>T (p.(Tyr92Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49819266A>T" "" "VUS" "" "0000326732" "0" "50" "19" "50333977" "50333977" "subst" "0" "01804" "MED25_000009" "g.50333977G>A" "" "" "" "MED25(NM_030973.3):c.934G>A (p.(Ala312Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49830720G>A" "" "VUS" "" "0000326733" "0" "50" "19" "50338786" "50338786" "subst" "0" "01804" "MED25_000016" "g.50338786T>A" "" "" "" "MED25(NM_030973.3):c.1675-5T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49835529T>A" "" "VUS" "" "0000326734" "0" "50" "19" "50338793" "50338793" "subst" "9.82753E-5" "01804" "MED25_000017" "g.50338793G>C" "" "" "" "MED25(NM_030973.3):c.1677G>C (p.(Met559Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49835536G>C" "" "VUS" "" "0000438812" "0" "50" "19" "50334047" "50334047" "subst" "0.00385562" "01164" "MED25_000002" "g.50334047C>T" "" "" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "VUS" "ACMG" "0000568032" "0" "30" "19" "50321579" "50321579" "subst" "0" "02330" "MED25_000021" "g.50321579T>C" "" "" "" "MED25(NM_030973.4):c.-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49818322T>C" "" "likely benign" "" "0000568033" "0" "10" "19" "50321691" "50321691" "subst" "0.00100902" "02330" "MED25_000022" "g.50321691C>T" "" "" "" "MED25(NM_030973.4):c.93C>T (p.Y31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49818434C>T" "" "benign" "" "0000568034" "0" "10" "19" "50322482" "50322482" "subst" "0.0303984" "02330" "MED25_000023" "g.50322482C>G" "" "" "" "MED25(NM_030973.4):c.234C>G (p.P78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49819225C>G" "" "benign" "" "0000568035" "0" "50" "19" "50322495" "50322495" "subst" "0.000190855" "02330" "MED25_000024" "g.50322495C>G" "" "" "" "MED25(NM_030973.4):c.247C>G (p.Q83E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49819238C>G" "" "VUS" "" "0000568036" "0" "30" "19" "50333791" "50333791" "subst" "4.06296E-6" "02330" "MED25_000025" "g.50333791T>C" "" "" "" "MED25(NM_030973.4):c.843T>C (p.A281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49830534T>C" "" "likely benign" "" "0000568037" "0" "30" "19" "50334047" "50334047" "subst" "0.00385562" "01804" "MED25_000002" "g.50334047C>T" "" "" "" "MED25(NM_030973.3):c.1004C>T (p.A335V), MED25(NM_030973.4):c.1004C>T (p.A335V, p.(Ala335Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49830790C>T" "" "likely benign" "" "0000568038" "0" "10" "19" "50334168" "50334186" "dup" "0" "02330" "MED25_000026" "g.50334168_50334186dup" "" "" "" "MED25(NM_030973.4):c.1101+16_1101+34dupCCTCCTGCCCCTGCTCCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49830911_49830929dup" "" "benign" "" "0000568039" "0" "30" "19" "50335624" "50335624" "subst" "0.000826501" "02330" "MED25_000027" "g.50335624G>A" "" "" "" "MED25(NM_030973.4):c.1434G>A (p.K478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49832367G>A" "" "likely benign" "" "0000568040" "0" "10" "19" "50335691" "50335691" "subst" "0.0108526" "02330" "MED25_000028" "g.50335691G>A" "" "" "" "MED25(NM_030973.4):c.1482+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49832434G>A" "" "benign" "" "0000568042" "0" "10" "19" "50338784" "50338784" "subst" "0.00298691" "02330" "MED25_000029" "g.50338784C>T" "" "" "" "MED25(NM_030973.4):c.1675-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49835527C>T" "" "benign" "" "0000568043" "0" "30" "19" "50338802" "50338802" "subst" "0" "02330" "MED25_000030" "g.50338802G>A" "" "" "" "MED25(NM_030973.4):c.1686G>A (p.Q562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49835545G>A" "" "likely benign" "" "0000568045" "0" "50" "19" "50338999" "50338999" "subst" "3.43159E-5" "02330" "MED25_000031" "g.50338999C>T" "" "" "" "MED25(NM_030973.4):c.1762C>T (p.P588S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49835742C>T" "" "VUS" "" "0000568046" "0" "10" "19" "50339605" "50339605" "subst" "0.00270533" "02330" "MED25_000032" "g.50339605G>A" "" "" "" "MED25(NM_030973.3):c.2088G>A (p.L696=), MED25(NM_030973.4):c.2088G>A (p.L696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49836348G>A" "" "benign" "" "0000568047" "0" "30" "19" "50339682" "50339682" "subst" "0.000303193" "02330" "MED25_000033" "g.50339682G>T" "" "" "" "MED25(NM_030973.4):c.2146+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49836425G>T" "" "likely benign" "" "0000617806" "0" "30" "19" "50321740" "50321740" "subst" "0" "01804" "MED25_000034" "g.50321740C>T" "" "" "" "MED25(NM_030973.3):c.134+8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49818483C>T" "" "likely benign" "" "0000617807" "0" "30" "19" "50333087" "50333087" "subst" "1.70962E-5" "02330" "MED25_000036" "g.50333087G>C" "" "" "" "MED25(NM_030973.4):c.570G>C (p.A190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49829830G>C" "" "likely benign" "" "0000617808" "0" "30" "19" "50334047" "50334047" "subst" "0.00385562" "02326" "MED25_000002" "g.50334047C>T" "" "" "" "MED25(NM_030973.3):c.1004C>T (p.A335V), MED25(NM_030973.4):c.1004C>T (p.A335V, p.(Ala335Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49830790C>T" "" "likely benign" "" "0000650037" "1" "10" "19" "50338236" "50338236" "subst" "0.0173876" "03575" "MED25_000014" "g.50338236C>T" "55/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "55 heterozygous, no homozygous; {DB:CLININrs2017698}" "Germline" "" "rs2017698" "0" "" "" "g.49834979C>T" "" "benign" "" "0000658636" "0" "30" "19" "50333181" "50333181" "subst" "0.000582922" "02330" "MED25_000037" "g.50333181C>T" "" "" "" "MED25(NM_030973.4):c.664C>T (p.L222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49829924C>T" "" "likely benign" "" "0000658637" "0" "30" "19" "50335414" "50335414" "subst" "0" "02330" "MED25_000038" "g.50335414G>C" "" "" "" "MED25(NM_030973.4):c.1374G>C (p.L458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49832157G>C" "" "likely benign" "" "0000658638" "0" "30" "19" "50335567" "50335567" "subst" "8.60378E-5" "02330" "MED25_000039" "g.50335567C>T" "" "" "" "MED25(NM_030973.4):c.1377C>T (p.T459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49832310C>T" "" "likely benign" "" "0000664020" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000664095" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000664144" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000664154" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000664167" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000664169" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000664170" "0" "90" "19" "50334047" "50334047" "subst" "0.00385562" "00006" "MED25_000002" "g.50334047C>T" "" "{PMID:Antoniadi 2015:26392352}" "" "" "" "Germline" "" "rs145770066" "0" "" "" "g.49830790C>T" "" "pathogenic (recessive)" "" "0000692864" "0" "50" "19" "50333856" "50333856" "subst" "0" "01943" "MED25_000040" "g.50333856G>A" "" "" "" "MED25(NM_030973.3):c.907+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727484" "0" "30" "19" "50335409" "50335409" "subst" "0.00033037" "02326" "MED25_000041" "g.50335409C>T" "" "" "" "MED25(NM_030973.3):c.1369C>T (p.L457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727485" "0" "50" "19" "50339023" "50339023" "subst" "6.38108E-5" "02330" "MED25_000042" "g.50339023G>A" "" "" "" "MED25(NM_030973.4):c.1786G>A (p.V596I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808984" "0" "30" "19" "50334715" "50334715" "subst" "8.78896E-5" "02330" "MED25_000043" "g.50334715A>G" "" "" "" "MED25(NM_030973.4):c.1227A>G (p.Q409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808985" "0" "30" "19" "50335190" "50335190" "subst" "4.06217E-6" "01943" "MED25_000044" "g.50335190C>T" "" "" "" "MED25(NM_030973.3):c.1231-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000832750" "0" "70" "19" "50333992" "50333992" "subst" "4.08133E-6" "04188" "MED25_000045" "g.50333992G>T" "" "{PMID:Ferese 2021:34354735}" "" "" "ACMG: PM2-PP3-BP1" "Unknown" "" "rs1280659782" "0" "" "" "g.49830735G>T" "SCV001424524" "VUS" "ACMG" "0000855668" "0" "30" "19" "50334047" "50334047" "subst" "0.00385562" "01943" "MED25_000002" "g.50334047C>T" "" "" "" "MED25(NM_030973.3):c.1004C>T (p.A335V), MED25(NM_030973.4):c.1004C>T (p.A335V, p.(Ala335Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855669" "0" "30" "19" "50339605" "50339605" "subst" "0.00270533" "01943" "MED25_000032" "g.50339605G>A" "" "" "" "MED25(NM_030973.3):c.2088G>A (p.L696=), MED25(NM_030973.4):c.2088G>A (p.L696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895090" "0" "30" "19" "50331796" "50331796" "subst" "0.000389993" "02330" "MED25_000046" "g.50331796C>T" "" "" "" "MED25(NM_030973.4):c.396C>T (p.R132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915278" "0" "50" "19" "50334046" "50334046" "subst" "4.10829E-6" "02330" "MED25_000047" "g.50334046G>A" "" "" "" "MED25(NM_030973.4):c.1003G>A (p.A335T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951332" "0" "10" "19" "50339573" "50339573" "subst" "0.00148315" "02330" "MED25_000048" "g.50339573C>T" "" "" "" "MED25(NM_001378355.1):c.2056C>T (p.L686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951333" "0" "30" "19" "50340138" "50340138" "subst" "1.23293E-5" "02330" "MED25_000049" "g.50340138G>T" "" "" "" "MED25(NM_030973.4):c.2181G>T (p.P727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983597" "0" "30" "19" "50321825" "50321825" "subst" "8.12176E-6" "01804" "MED25_000050" "g.50321825C>T" "" "" "" "MED25(NM_030973.4):c.135-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983599" "0" "30" "19" "50334148" "50334148" "subst" "0.000156709" "01804" "MED25_000012" "g.50334148G>A" "" "" "" "MED25(NM_030973.4):c.1101+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983600" "0" "50" "19" "50340143" "50340143" "subst" "5.74015E-5" "01804" "MED25_000051" "g.50340143C>T" "" "" "" "MED25(NM_030973.4):c.2186C>T (p.(Pro729Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005018" "0" "50" "19" "50333119" "50333119" "subst" "0.000227222" "01804" "MED25_000052" "g.50333119C>T" "" "" "" "MED25(NM_030973.3):c.602C>T (p.(Pro201Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043113" "0" "50" "19" "50334149" "50334149" "subst" "0" "01804" "MED25_000053" "g.50334149G>A" "" "" "" "MED25(NM_030973.4):c.1101+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043114" "0" "30" "19" "50335184" "50335184" "subst" "4.06316E-6" "01804" "MED25_000054" "g.50335184C>T" "" "" "" "MED25(NM_030973.4):c.1231-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043115" "0" "30" "19" "50338784" "50338784" "subst" "0.00298691" "01804" "MED25_000029" "g.50338784C>T" "" "" "" "MED25(NM_030973.4):c.1675-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043116" "0" "50" "19" "50341846" "50341846" "subst" "0.000179217" "01804" "MED25_000055" "g.50341846G>A" "" "" "" "MED25(NM_001378355.1):c.2156G>A (p.(Arg719Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056753" "0" "50" "19" "50342062" "50342062" "subst" "0.000377667" "01804" "MED25_000056" "g.50342062A>G" "" "" "" "MED25(NM_001378355.1):c.2372A>G (p.(Lys791Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067250" "0" "30" "19" "50334047" "50334047" "subst" "0.00385562" "02325" "MED25_000002" "g.50334047C>T" "" "" "" "MED25(NM_030973.3):c.1004C>T (p.A335V), MED25(NM_030973.4):c.1004C>T (p.A335V, p.(Ala335Val))" "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 MED25 ## Count = 71 "{{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}}" "0000053149" "00011974" "90" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(Arg140Trp)" "5" "0000053150" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala355Val)" "9" "0000247607" "00011974" "10" "-12" "0" "-12" "0" "c.-12A>G" "r.(?)" "p.(=)" "" "0000279642" "00011974" "50" "-1" "0" "-1" "0" "c.-1T>G" "r.(?)" "p.(=)" "" "0000279643" "00011974" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000279644" "00011974" "30" "1038" "0" "1038" "0" "c.1038G>T" "r.(?)" "p.(Leu346=)" "" "0000279646" "00011974" "30" "1101" "4" "1101" "4" "c.1101+4G>A" "r.spl?" "p.?" "" "0000279647" "00011974" "10" "1483" "-7" "1483" "-7" "c.1483-7C>T" "r.(=)" "p.(=)" "" "0000279648" "00011974" "10" "165" "0" "165" "0" "c.165G>A" "r.(?)" "p.(Thr55=)" "" "0000279649" "00011974" "10" "1674" "19" "1674" "19" "c.1674+19C>T" "r.(=)" "p.(=)" "" "0000279650" "00011974" "30" "1727" "0" "1727" "0" "c.1727C>G" "r.(?)" "p.(Ala576Gly)" "" "0000279651" "00011974" "10" "1794" "0" "1794" "0" "c.1794C>T" "r.(?)" "p.(Ala598=)" "" "0000279652" "00011974" "10" "2031" "0" "2031" "0" "c.2031G>A" "r.(?)" "p.(Ala677=)" "" "0000279653" "00011974" "30" "820" "-11" "820" "-11" "c.820-11T>G" "r.(=)" "p.(=)" "" "0000279654" "00011974" "10" "942" "0" "942" "0" "c.942C>G" "r.(?)" "p.(Pro314=)" "" "0000286234" "00011974" "10" "1483" "-7" "1483" "-7" "c.1483-7C>T" "r.(=)" "p.(=)" "" "0000326730" "00011974" "50" "275" "0" "275" "0" "c.275A>T" "r.(?)" "p.(Tyr92Phe)" "" "0000326732" "00011974" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Ala312Thr)" "" "0000326733" "00011974" "50" "1675" "-5" "1675" "-5" "c.1675-5T>A" "r.spl?" "p.?" "" "0000326734" "00011974" "50" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Met559Ile)" "" "0000438812" "00011974" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.Ala335Val" "" "0000568032" "00011974" "30" "-20" "0" "-20" "0" "c.-20T>C" "r.(?)" "p.(=)" "" "0000568033" "00011974" "10" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Tyr31=)" "" "0000568034" "00011974" "10" "234" "0" "234" "0" "c.234C>G" "r.(?)" "p.(Pro78=)" "" "0000568035" "00011974" "50" "247" "0" "247" "0" "c.247C>G" "r.(?)" "p.(Gln83Glu)" "" "0000568036" "00011974" "30" "843" "0" "843" "0" "c.843T>C" "r.(?)" "p.(Ala281=)" "" "0000568037" "00011974" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000568038" "00011974" "10" "1101" "24" "1101" "42" "c.1101+24_1101+42dup" "r.(=)" "p.(=)" "" "0000568039" "00011974" "30" "1434" "0" "1434" "0" "c.1434G>A" "r.(?)" "p.(Lys478=)" "" "0000568040" "00011974" "10" "1482" "19" "1482" "19" "c.1482+19G>A" "r.(=)" "p.(=)" "" "0000568042" "00011974" "10" "1675" "-7" "1675" "-7" "c.1675-7C>T" "r.(=)" "p.(=)" "" "0000568043" "00011974" "30" "1686" "0" "1686" "0" "c.1686G>A" "r.(?)" "p.(Gln562=)" "" "0000568045" "00011974" "50" "1762" "0" "1762" "0" "c.1762C>T" "r.(?)" "p.(Pro588Ser)" "" "0000568046" "00011974" "10" "2088" "0" "2088" "0" "c.2088G>A" "r.(?)" "p.(Leu696=)" "" "0000568047" "00011974" "30" "2146" "19" "2146" "19" "c.2146+19G>T" "r.(=)" "p.(=)" "" "0000617806" "00011974" "30" "134" "8" "134" "8" "c.134+8C>T" "r.(=)" "p.(=)" "" "0000617807" "00011974" "30" "570" "0" "570" "0" "c.570G>C" "r.(?)" "p.(Ala190=)" "" "0000617808" "00011974" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000650037" "00011974" "10" "1483" "-7" "1483" "-7" "c.1483-7C>T" "r.(=)" "p.(=)" "" "0000658636" "00011974" "30" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Leu222=)" "" "0000658637" "00011974" "30" "1374" "0" "1374" "0" "c.1374G>C" "r.(?)" "p.(Leu458=)" "" "0000658638" "00011974" "30" "1377" "0" "1377" "0" "c.1377C>T" "r.(?)" "p.(Thr459=)" "" "0000664020" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000664095" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000664144" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000664154" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000664167" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000664169" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000664170" "00011974" "90" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000692864" "00011974" "50" "907" "1" "907" "1" "c.907+1G>A" "r.spl?" "p.?" "" "0000727484" "00011974" "30" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Leu457=)" "" "0000727485" "00011974" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Val596Ile)" "" "0000808984" "00011974" "30" "1227" "0" "1227" "0" "c.1227A>G" "r.(?)" "p.(Gln409=)" "" "0000808985" "00011974" "30" "1231" "-3" "1231" "-3" "c.1231-3C>T" "r.spl?" "p.?" "" "0000832750" "00011974" "70" "949" "0" "949" "0" "c.949G>T" "r.(?)" "p.(Gly317Cys)" "" "0000855668" "00011974" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" "0000855669" "00011974" "30" "2088" "0" "2088" "0" "c.2088G>A" "r.(?)" "p.(Leu696=)" "" "0000895090" "00011974" "30" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Arg132=)" "" "0000915278" "00011974" "50" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "" "0000951332" "00011974" "10" "2056" "0" "2056" "0" "c.2056C>T" "r.(?)" "p.(=)" "" "0000951333" "00011974" "30" "2181" "0" "2181" "0" "c.2181G>T" "r.(?)" "p.(=)" "" "0000983597" "00011974" "30" "135" "-3" "135" "-3" "c.135-3C>T" "r.spl?" "p.?" "" "0000983599" "00011974" "30" "1101" "4" "1101" "4" "c.1101+4G>A" "r.spl?" "p.?" "" "0000983600" "00011974" "50" "2186" "0" "2186" "0" "c.2186C>T" "r.(?)" "p.(Pro729Leu)" "" "0001005018" "00011974" "50" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Pro201Leu)" "" "0001043113" "00011974" "50" "1101" "5" "1101" "5" "c.1101+5G>A" "r.spl?" "p.?" "" "0001043114" "00011974" "30" "1231" "-9" "1231" "-9" "c.1231-9C>T" "r.(=)" "p.(=)" "" "0001043115" "00011974" "30" "1675" "-7" "1675" "-7" "c.1675-7C>T" "r.(=)" "p.(=)" "" "0001043116" "00011974" "50" "3889" "0" "3889" "0" "c.*1645G>A" "r.(=)" "p.(=)" "" "0001056753" "00011974" "50" "4105" "0" "4105" "0" "c.*1861A>G" "r.(=)" "p.(=)" "" "0001067250" "00011974" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ala335Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000029739" "0000053149" "0000029740" "0000053150" "0000208831" "0000438812" "0000293348" "0000650037" "0000301125" "0000664020" "0000301200" "0000664095" "0000301249" "0000664144" "0000301259" "0000664154" "0000301272" "0000664167" "0000301274" "0000664169" "0000301275" "0000664170" "0000400017" "0000832750"