### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPL) # 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}}" "MPL" "myeloproliferative leukemia virus oncogene" "1" "p34" "unknown" "NC_000001.10" "UD_132085334787" "" "https://www.LOVD.nl/MPL" "" "1" "7217" "4352" "159530" "1" "1" "1" "1" "The establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/MPL_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2023-09-01 13:01:23" "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}}" "00000143" "MPL" "myeloproliferative leukemia virus oncogene" "001" "NM_005373.2" "" "NP_005364.1" "" "" "" "-45" "3600" "1908" "43803475" "43820135" "00002" "2012-05-11 13:12:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "01680" "BCD" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "AR" "210370" "eyes" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01949" "MMM" "myelofibrosis, with myeloid metaplasia, somatic" "" "254450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:13:28" "02406" "THCYT2" "thrombocythemia, type 2" "AD;SMu" "601977" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:02:12" "02514" "CAMT" "thrombocytopenia, amegakaryocytic, congenital (CAMT)" "AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-09-01 13:08:02" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "07022" "CAMT1" "thrombocytopenia, megakaryocytic, congenital, type 1" "AR" "604498" "" "" "" "00006" "2023-09-01 13:08:54" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MPL" "01949" "MPL" "02406" "MPL" "02514" "MPL" "07022" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000047" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000065" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000066" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000101" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00248215" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00289845" "" "" "" "151" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289846" "" "" "" "224" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304203" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304204" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362793" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362794" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00409498" "" "" "" "1" "" "00000" "{PMID:Lockhart 2018:28698241}" "" "F" "" "" "" "0" "" "" "" "?" "00411617" "" "" "" "1" "" "00000" "{PMID:Greenberg 2003:14566652}" "South African family, proband" "M" "yes" "South Africa" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000018" "00138" "00000018" "05378" "00000101" "04214" "00248215" "00318" "00289845" "00198" "00289846" "00198" "00304203" "00198" "00304204" "00198" "00362793" "00198" "00362794" "00198" "00409498" "01680" "00411617" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 00318, 01680, 01949, 02406, 02514, 04214, 05378, 07022 ## 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}}" "0000187224" "00318" "00248215" "01474" "Unknown" "" "54y ductal breast cancer, subtype luminal A" "54y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000258163" "00198" "00362793" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Amegakaryocytic thrombocytopenia" "" "0000258164" "00198" "00362794" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Amegakaryocytic thrombocytopenia" "" "0000278359" "04214" "00000101" "00000" "Familial, autosomal dominant" "64y" "diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization" "55y" "" "" "" "" "" "" "" "" "Sorsby fundus dystrophy" "" "0000301615" "01680" "00409498" "00000" "Familial, autosomal recessive" "47y" "27y: night vision difficulties; more rapid vision loss during the course of two pregnancies; over the next 20 years, the vision in the right eye continued to decline to a current best corrected visual acuity right, left eye: of 20/200 (1.0 logMAR), 20/50 (0.4 logMAR); visual fields: progressive loss of sensitivity, greater in the pericentral region between 10 deg and 20 deg from fixation, with eventual development of scotomas that deepened and enlarged with time; full field electroretinography: initially normal in both eyes (27y), slowly declined over time, became statistically significant at 39y ; relatively symmetric progressive attenuation of rod-dependent and cone-dependent responses in both eyes; multifocal electroretinography: markedly attenuated central macular cone-dependent function, notably worse in the right eye; perimetry also showed asymmetric central and paracentral scotomas with the III4e and V4e isopters that were worse in the right, which deepened and enlarged especially over the past several years; III4e isopter area shows a progressively steep decline during ages 39-46. Retinal crystalline deposits visualised on colour photography and infrared imaging; corneal limbal crystalline deposits did not manifest clinically until 33y; wide-field fundus autofluorescence: confluent hypoautofluorescence of the posterior pole correlating with extensive retinal pigment epithelium atrophy in both eyes; 47y some intact macular autofluorescence remained, correlating with residual retinal pigment epithelium and better visual acuity in the left eye. Early phase wide-field fundus autofluorescence: confluent hyperfluorescent window defect of the posterior pole with patchy hypofluorescent choroidal atrophy; 44y, cystoid macular oedema (CME), worse in the right eye on optical coherence tomography" "25y" "" "reduced visual acuity in the right eye - 20/50 (0.4 logMAR)" "" "" "" "" "" "dystrophy, corneoretinal, crystalline, Bietti (BCD)" "" "" "0000303644" "04214" "00411617" "00000" "Familial, autosomal recessive" "68y" "night blindness, sensitivity to bright light, visual field loss, loss of visual acuity" "" "12y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000018" "00000018" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000041" "00000041" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000047" "00000047" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000049" "00000049" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000065" "00000065" "1" "00004" "" "2012-05-11 13:18:56" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000066" "00000066" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000101" "00000101" "1" "00004" "" "2012-05-11 13:19:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000249320" "00248215" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000291013" "00289845" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291014" "00289846" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305332" "00304203" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305333" "00304204" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000364021" "00362793" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364022" "00362794" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000410762" "00409498" "1" "00000" "03840" "2022-05-09 15:31:45" "" "" "SEQ" "DNA" "blood" "" "0000412889" "00411617" "1" "00000" "03840" "2022-06-17 17:08:24" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 83 "{{screeningid}}" "{{geneid}}" "0000000018" "ALG6" "0000000018" "ASPA" "0000000018" "ATP7B" "0000000018" "DPYD" "0000000018" "GLB1" "0000000018" "LAMA2" "0000000018" "MMACHC" "0000000018" "MPL" "0000000018" "MYO5A" "0000000018" "NHLRC1" "0000000018" "NPHS1" "0000000018" "SERPINA1" "0000000018" "SMPD1" "0000000041" "ATP7A" "0000000041" "ATP7B" "0000000041" "DPYD" "0000000041" "ETFB" "0000000041" "IGHMBP2" "0000000041" "MPL" "0000000041" "MYO5A" "0000000041" "NHLRC1" "0000000041" "NPHP4" "0000000041" "NPHS1" "0000000041" "PLP1" "0000000041" "SERPINA1" "0000000047" "ATP7B" "0000000047" "BCKDHA" "0000000047" "DPYD" "0000000047" "ETFB" "0000000047" "HEXB" "0000000047" "IGHMBP2" "0000000047" "KMT2A" "0000000047" "MEFV" "0000000047" "MPL" "0000000047" "MYO5A" "0000000047" "NHLRC1" "0000000047" "NPC1" "0000000047" "NPHS1" "0000000047" "SERPINA1" "0000000049" "ATP7B" "0000000049" "CYP21A2" "0000000049" "DPYD" "0000000049" "ETFB" "0000000049" "GALC" "0000000049" "GLB1" "0000000049" "IGHMBP2" "0000000049" "LAMA2" "0000000049" "MPL" "0000000049" "MYO5A" "0000000049" "NPHP4" "0000000049" "SERPINA1" "0000000049" "SGSH" "0000000049" "SLC26A2" "0000000065" "ATP7B" "0000000065" "CFTR" "0000000065" "ETFB" "0000000065" "GLB1" "0000000065" "MPL" "0000000065" "NHLRC1" "0000000065" "NPHS1" "0000000065" "SERPINA1" "0000000065" "SMPD1" "0000000066" "AHI1" "0000000066" "ATP7B" "0000000066" "HBB" "0000000066" "HEXB" "0000000066" "IDUA" "0000000066" "MPL" "0000000066" "NHLRC1" "0000000066" "NPHS1" "0000000066" "PKHD1" "0000000066" "PMM2" "0000000066" "SERPINA1" "0000000066" "TTN" "0000000101" "ATP7B" "0000000101" "ETFB" "0000000101" "GLB1" "0000000101" "NPHS1" "0000000101" "SERPINA1" "0000364021" "MPL" "0000364022" "MPL" "0000410762" "CYP4V2" "0000412889" "RHO" ## 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}}" "0000000099" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43338669G>A" "" "VUS" "" "0000000100" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43338669G>A" "" "VUS" "" "0000000101" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43338669G>A" "" "VUS" "" "0000000102" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.43338669G>A" "" "VUS" "" "0000286636" "0" "30" "1" "43815035" "43815035" "subst" "0.00455255" "02326" "MPL_000006" "g.43815035C>T" "" "" "" "MPL(NM_005373.2):c.1565+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43349364C>T" "" "likely benign" "" "0000286637" "0" "90" "1" "43804305" "43804305" "subst" "0.000381695" "02326" "MPL_000003" "g.43804305G>C" "" "" "" "MPL(NM_005373.2):c.305G>C (p.R102P, p.(Arg102Pro)), MPL(NM_005373.3):c.305G>C (p.R102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43338634G>C" "" "pathogenic" "" "0000286638" "0" "30" "1" "43804340" "43804340" "subst" "0.0247897" "02326" "MPL_000001" "g.43804340G>A" "" "" "" "MPL(NM_005373.2):c.340G>A (p.(Val114Met), p.V114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43338669G>A" "" "likely benign" "" "0000291959" "0" "30" "1" "43814541" "43814541" "subst" "0.000125259" "01943" "MPL_000005" "g.43814541G>A" "" "" "" "MPL(NM_005373.2):c.1336G>A (p.G446R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43348870G>A" "" "likely benign" "" "0000291960" "0" "30" "1" "43818179" "43818179" "subst" "0.00151564" "01943" "MPL_000007" "g.43818179T>A" "" "" "" "MPL(NM_005373.2):c.1654-10T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43352508T>A" "" "likely benign" "" "0000291961" "0" "30" "1" "43805205" "43805205" "subst" "0.000166523" "01943" "MPL_000004" "g.43805205C>G" "" "" "" "MPL(NM_005373.2):c.655C>G (p.Q219E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43339534C>G" "" "likely benign" "" "0000341671" "0" "90" "1" "43804305" "43804305" "subst" "0.000381695" "02327" "MPL_000003" "g.43804305G>C" "" "" "" "MPL(NM_005373.2):c.305G>C (p.R102P, p.(Arg102Pro)), MPL(NM_005373.3):c.305G>C (p.R102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43338634G>C" "" "pathogenic" "" "0000349819" "0" "90" "1" "43815009" "43815009" "subst" "8.15302E-6" "02327" "MPL_000009" "g.43815009G>T" "" "" "" "MPL(NM_005373.2):c.1544G>T (p.(Trp515Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43349338G>T" "" "pathogenic" "" "0000507534" "0" "90" "1" "43804305" "43804305" "subst" "0.000381695" "01943" "MPL_000003" "g.43804305G>C" "" "" "" "MPL(NM_005373.2):c.305G>C (p.R102P, p.(Arg102Pro)), MPL(NM_005373.3):c.305G>C (p.R102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43338634G>C" "" "pathogenic" "" "0000507535" "0" "30" "1" "43804340" "43804340" "subst" "0.0247897" "01804" "MPL_000001" "g.43804340G>A" "" "" "" "MPL(NM_005373.2):c.340G>A (p.(Val114Met), p.V114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43338669G>A" "" "likely benign" "" "0000507536" "0" "10" "1" "43805093" "43805093" "subst" "0.00189655" "01943" "MPL_000012" "g.43805093T>C" "" "" "" "MPL(NM_005373.2):c.543T>C (p.G181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43339422T>C" "" "benign" "" "0000507537" "0" "30" "1" "43805099" "43805099" "subst" "0" "01943" "MPL_000013" "g.43805099G>T" "" "" "" "MPL(NM_005373.2):c.549G>T (p.T183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43339428G>T" "" "likely benign" "" "0000507538" "0" "50" "1" "43812241" "43812241" "subst" "0" "01943" "MPL_000014" "g.43812241C>T" "" "" "" "MPL(NM_005373.2):c.1106C>T (p.T369I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43346570C>T" "" "VUS" "" "0000507539" "0" "30" "1" "43817977" "43817977" "subst" "0.000944141" "01804" "MPL_000015" "g.43817977G>A" "" "" "" "MPL(NM_005373.2):c.1653+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43352306G>A" "" "likely benign" "" "0000578074" "0" "50" "1" "43803600" "43803600" "subst" "0.000393591" "01474" "MPL_000010" "g.43803600T>A" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs146249964" "0" "" "" "g.43337929T>A" "" "VUS" "" "0000605772" "0" "50" "1" "43803542" "43803542" "subst" "0" "01804" "MPL_000016" "g.43803542T>G" "" "" "" "MPL(NM_005373.2):c.23T>G (p.(Met8Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43337871T>G" "" "VUS" "" "0000605773" "0" "90" "1" "43804957" "43804957" "subst" "1.22041E-5" "02327" "MPL_000017" "g.43804957C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43339286C>A" "" "pathogenic" "" "0000605774" "0" "10" "1" "43805240" "43805240" "subst" "0.0346467" "01804" "MPL_000018" "g.43805240A>G" "" "" "" "MPL(NM_005373.2):c.690A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43339569A>G" "" "benign" "" "0000605775" "0" "50" "1" "43805698" "43805698" "subst" "0.000306162" "01804" "MPL_000019" "g.43805698T>C" "" "" "" "MPL(NM_005373.2):c.754T>C (p.(Tyr252His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43340027T>C" "" "VUS" "" "0000605776" "0" "90" "1" "43806086" "43806092" "del" "0" "02327" "MPL_000020" "g.43806086_43806092del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43340415_43340421del" "" "pathogenic" "" "0000647702" "1" "30" "1" "43804340" "43804340" "subst" "0.0247897" "03575" "MPL_000001" "g.43804340G>A" "151/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "151 heterozygous; {DB:CLININrs12731981}" "Germline" "" "rs12731981" "0" "" "" "g.43338669G>A" "" "likely benign" "" "0000647703" "1" "10" "1" "43805240" "43805240" "subst" "0.0346467" "03575" "MPL_000018" "g.43805240A>G" "224/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "224 heterozygous; {DB:CLININrs16830693}" "Germline" "" "rs16830693" "0" "" "" "g.43339569A>G" "" "benign" "" "0000669020" "3" "30" "1" "43804340" "43804340" "subst" "0.0247897" "03575" "MPL_000001" "g.43804340G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs12731981}" "Germline" "" "rs12731981" "0" "" "" "g.43338669G>A" "" "likely benign" "" "0000669021" "3" "10" "1" "43805240" "43805240" "subst" "0.0346467" "03575" "MPL_000018" "g.43805240A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs16830693}" "Germline" "" "rs16830693" "0" "" "" "g.43339569A>G" "" "benign" "" "0000675855" "0" "90" "1" "43804378" "43804378" "del" "0" "01804" "MPL_000021" "g.43804378del" "" "" "" "MPL(NM_005373.2):c.378del (p.(Phe126LeufsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675856" "0" "70" "1" "43812135" "43812135" "subst" "0" "01804" "MPL_000022" "g.43812135T>C" "" "" "" "MPL(NM_005373.2):c.1000T>C (p.(Cys334Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000685797" "0" "50" "1" "43804340" "43804340" "subst" "0.0247897" "00002" "MPL_000001" "g.43804340G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43338669G>A" "" "VUS" "" "0000685799" "0" "50" "1" "43804235" "43804236" "del" "4.46838E-5" "00002" "MPL_000002" "g.43804235_43804236del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43338564_43338565del" "" "VUS" "" "0000688180" "0" "30" "1" "43803807" "43803807" "subst" "0.00337484" "01804" "MPL_000023" "g.43803807G>T" "" "" "" "MPL(NM_005373.2):c.117G>T (p.(Lys39Asn), p.K39N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717503" "0" "30" "1" "43817891" "43817891" "subst" "0.000412053" "01943" "MPL_000024" "g.43817891C>T" "" "" "" "MPL(NM_005373.2):c.1570C>T (p.L524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764731" "3" "70" "1" "43804304" "43804304" "subst" "1.21818E-5" "00006" "MPL_000025" "g.43804304C>T" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline" "" "" "0" "" "" "g.43338633C>T" "" "likely pathogenic (recessive)" "" "0000764732" "3" "70" "1" "43804304" "43804304" "subst" "1.21818E-5" "00006" "MPL_000025" "g.43804304C>T" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline" "" "" "0" "" "" "g.43338633C>T" "" "likely pathogenic (recessive)" "" "0000857501" "0" "30" "1" "43803807" "43803807" "subst" "0.00337484" "02326" "MPL_000023" "g.43803807G>T" "" "" "" "MPL(NM_005373.2):c.117G>T (p.(Lys39Asn), p.K39N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857502" "0" "30" "1" "43815035" "43815035" "subst" "0.00455255" "01804" "MPL_000006" "g.43815035C>T" "" "" "" "MPL(NM_005373.2):c.1565+5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857503" "0" "30" "1" "43818179" "43818179" "subst" "0.00151564" "01804" "MPL_000007" "g.43818179T>A" "" "" "" "MPL(NM_005373.2):c.1654-10T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883461" "0" "90" "1" "43804305" "43804305" "subst" "0.000381695" "01804" "MPL_000003" "g.43804305G>C" "" "" "" "MPL(NM_005373.2):c.305G>C (p.R102P, p.(Arg102Pro)), MPL(NM_005373.3):c.305G>C (p.R102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883462" "0" "30" "1" "43805093" "43805093" "subst" "0.00189655" "02326" "MPL_000012" "g.43805093T>C" "" "" "" "MPL(NM_005373.2):c.543T>C (p.G181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883463" "0" "30" "1" "43805737" "43805737" "subst" "0.00131802" "02326" "MPL_000026" "g.43805737C>T" "" "" "" "MPL(NM_005373.2):c.793C>T (p.L265F), MPL(NM_005373.3):c.793C>T (p.(Leu265Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883464" "0" "30" "1" "43812255" "43812255" "subst" "0.00284649" "02326" "MPL_000027" "g.43812255A>G" "" "" "" "MPL(NM_005373.2):c.1120A>G (p.T374A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923190" "0" "30" "1" "43803900" "43803900" "subst" "0.00101113" "02326" "MPL_000011" "g.43803900G>A" "" "" "" "MPL(NM_005373.2):c.210G>A (p.P70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973973" "0" "30" "1" "43805737" "43805737" "subst" "0.00131802" "01804" "MPL_000026" "g.43805737C>T" "" "" "" "MPL(NM_005373.2):c.793C>T (p.L265F), MPL(NM_005373.3):c.793C>T (p.(Leu265Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032062" "0" "90" "1" "43815009" "43815009" "subst" "8.15302E-6" "01804" "MPL_000009" "g.43815009G>T" "" "" "" "MPL(NM_005373.2):c.1544G>T (p.(Trp515Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045688" "0" "90" "1" "43804305" "43804305" "subst" "0.000381695" "02325" "MPL_000003" "g.43804305G>C" "" "" "" "MPL(NM_005373.2):c.305G>C (p.R102P, p.(Arg102Pro)), MPL(NM_005373.3):c.305G>C (p.R102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050084" "0" "50" "1" "43804396" "43804396" "subst" "8.93895E-5" "02327" "MPL_000028" "g.43804396G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050085" "0" "50" "1" "43814532" "43814532" "subst" "0" "02327" "MPL_000029" "g.43814532G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063050" "0" "30" "1" "43804340" "43804340" "subst" "0.0247897" "02325" "MPL_000001" "g.43804340G>A" "" "" "" "MPL(NM_005373.2):c.340G>A (p.(Val114Met), p.V114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001063051" "0" "50" "1" "43804954" "43804954" "subst" "8.13789E-6" "02325" "MPL_000030" "g.43804954C>G" "" "" "" "" "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 MPL ## 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}}" "0000000099" "00000143" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000000100" "00000143" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000000101" "00000143" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000000102" "00000143" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000286636" "00000143" "30" "1565" "5" "1565" "5" "c.1565+5C>T" "r.spl?" "p.?" "" "0000286637" "00000143" "90" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Arg102Pro)" "" "0000286638" "00000143" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000291959" "00000143" "30" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Gly446Arg)" "" "0000291960" "00000143" "30" "1654" "-10" "1654" "-10" "c.1654-10T>A" "r.(=)" "p.(=)" "" "0000291961" "00000143" "30" "655" "0" "655" "0" "c.655C>G" "r.(?)" "p.(Gln219Glu)" "" "0000341671" "00000143" "90" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Arg102Pro)" "" "0000349819" "00000143" "90" "1544" "0" "1544" "0" "c.1544G>T" "r.(?)" "p.(Trp515Leu)" "" "0000507534" "00000143" "90" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Arg102Pro)" "" "0000507535" "00000143" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000507536" "00000143" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Gly181=)" "" "0000507537" "00000143" "30" "549" "0" "549" "0" "c.549G>T" "r.(?)" "p.(Thr183=)" "" "0000507538" "00000143" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Thr369Ile)" "" "0000507539" "00000143" "30" "1653" "3" "1653" "3" "c.1653+3G>A" "r.spl?" "p.?" "" "0000578074" "00000143" "00" "79" "2" "79" "2" "c.79+2T>A" "r.spl" "p.?" "" "0000605772" "00000143" "50" "23" "0" "23" "0" "c.23T>G" "r.(?)" "p.(Met8Arg)" "" "0000605773" "00000143" "90" "407" "0" "407" "0" "c.407C>A" "r.(?)" "p.(Pro136His)" "" "0000605774" "00000143" "10" "690" "0" "690" "0" "c.690A>G" "r.(?)" "p.(Glu230=)" "" "0000605775" "00000143" "50" "754" "0" "754" "0" "c.754T>C" "r.(?)" "p.(Tyr252His)" "" "0000605776" "00000143" "90" "882" "0" "888" "0" "c.882_888del" "r.(?)" "p.(Asp295ArgfsTer72)" "" "0000647702" "00000143" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000647703" "00000143" "10" "690" "0" "690" "0" "c.690A>G" "r.(=)" "p.(=)" "" "0000669020" "00000143" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000669021" "00000143" "10" "690" "0" "690" "0" "c.690A>G" "r.(=)" "p.(=)" "" "0000675855" "00000143" "90" "378" "0" "378" "0" "c.378del" "r.(?)" "p.(Phe126LeufsTer5)" "" "0000675856" "00000143" "70" "1000" "0" "1000" "0" "c.1000T>C" "r.(?)" "p.(Cys334Arg)" "" "0000685797" "00000143" "50" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000685799" "00000143" "50" "235" "0" "236" "0" "c.235_236del" "r.(?)" "p.(Leu79Glufs*84)" "" "0000688180" "00000143" "30" "117" "0" "117" "0" "c.117G>T" "r.(?)" "p.(Lys39Asn)" "" "0000717503" "00000143" "30" "1570" "0" "1570" "0" "c.1570C>T" "r.(?)" "p.(Leu524=)" "" "0000764731" "00000143" "70" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" "" "0000764732" "00000143" "70" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Leu102=)" "" "0000857501" "00000143" "30" "117" "0" "117" "0" "c.117G>T" "r.(?)" "p.(Lys39Asn)" "" "0000857502" "00000143" "30" "1565" "5" "1565" "5" "c.1565+5C>T" "r.spl?" "p.?" "" "0000857503" "00000143" "30" "1654" "-10" "1654" "-10" "c.1654-10T>A" "r.(=)" "p.(=)" "" "0000883461" "00000143" "90" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Arg102Pro)" "" "0000883462" "00000143" "30" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Gly181=)" "" "0000883463" "00000143" "30" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Leu265Phe)" "" "0000883464" "00000143" "30" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.(Thr374Ala)" "" "0000923190" "00000143" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Pro70=)" "" "0000973973" "00000143" "30" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Leu265Phe)" "" "0001032062" "00000143" "90" "1544" "0" "1544" "0" "c.1544G>T" "r.(?)" "p.(Trp515Leu)" "" "0001045688" "00000143" "90" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Arg102Pro)" "" "0001050084" "00000143" "50" "391" "5" "391" "5" "c.391+5G>C" "r.spl?" "p.?" "" "0001050085" "00000143" "50" "1327" "0" "1327" "0" "c.1327G>C" "r.(?)" "p.(Gly443Arg)" "" "0001063050" "00000143" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0001063051" "00000143" "50" "404" "0" "404" "0" "c.404C>G" "r.(?)" "p.(Pro135Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000000018" "0000685797" "0000000041" "0000000101" "0000000047" "0000000099" "0000000049" "0000000100" "0000000065" "0000000102" "0000000066" "0000685799" "0000000101" "0000000101" "0000249320" "0000578074" "0000291013" "0000647702" "0000291014" "0000647703" "0000305332" "0000669020" "0000305333" "0000669021" "0000364021" "0000764731" "0000364022" "0000764732" "0000410762" "0000000101" "0000412889" "0000000101"