### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PPM1D) # 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}}" "PPM1D" "protein phosphatase, Mg2+/Mn2+ dependent, 1D" "17" "q23.3" "unknown" "NG_023265.1" "UD_132084531066" "" "https://www.LOVD.nl/PPM1D" "" "1" "9277" "8493" "605100" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PPM1D_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-14 15:16:38" "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}}" "00016636" "PPM1D" "protein phosphatase, Mg2+/Mn2+ dependent, 1D" "001" "NM_003620.3" "" "NP_003611.1" "" "" "" "-232" "4546" "1818" "58677544" "58743641" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00683" "cancer, breast" "cancer, breast, susceptibility" "" "114480" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-30 17:21:12" "05281" "PSS" "Potocki-Shaffer syndrome (PSS, chromosome 11p11.2 deletion syndrome syndrome (P11pDS))" "" "601224" "" "" "" "00006" "2017-06-12 11:49:26" "00006" "2021-12-10 21:51:32" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05947" "JDVS" "Jansen de Vries syndrome (JDVS)" "AD" "" "" "" "" "00006" "2021-06-14 15:15:41" "00006" "2021-12-10 21:51:32" "06339" "JDVS" "Jansen de Vries syndrome" "AD" "617450" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PPM1D" "00683" "PPM1D" "05611" "PPM1D" "05947" "PPM1D" "06339" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00375619" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "180603" "00375621" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat1" "00375622" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00375623" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat3" "00375624" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00375625" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat5" "00375626" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00375627" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat7" "00375628" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00375629" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat9" "00375630" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat10" "00375631" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat11" "00375632" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat12" "00375633" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "" "F" "" "" "" "0" "" "" "" "Pat13" "00375634" "" "" "" "1" "" "00006" "{PMID:Jansen 2017:28343630}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat14" "00443717" "" "" "" "1" "" "04599" "" "" "F" "" "Mexico" "" "" "" "" "Mexican" "UCDMX015" "00459429" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00466230" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "340511" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00375619" "00139" "00375621" "00139" "00375622" "00139" "00375623" "00139" "00375624" "00139" "00375625" "00139" "00375626" "00139" "00375627" "00139" "00375628" "00139" "00375629" "00139" "00375630" "00139" "00375631" "00139" "00375632" "00139" "00375633" "00139" "00375633" "05281" "00375634" "00139" "00443717" "05489" "00459429" "05611" "00466230" "06339" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00683, 05281, 05489, 05611, 05947, 06339 ## Count = 18 "{{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}}" "0000270832" "00139" "00375619" "01164" "Unknown" "10y" "adopted child; (+) Abnormality of body height,(+) Aggressive behavior,(+) Short attention span,(+) Hyperactivity,(+) Global developmental delay,(+) Specific learning disability,(+) Growth delay,(+) Dyscalculia,(+) Short stature,(+) Abnormal aggressive, impulsive or violent behavior,(+) Attention deficit hyperactivity disorder,(+) Mild global developmental delay,(+) Neurodevelopmental delay" "" "" "" "" "" "" "" "" "JDVS" "" "" "0000270834" "00139" "00375621" "00006" "Isolated (sporadic)" "14y" "see paper; ..., birth weight 2,78kg; height SD−2.7; weight SD+2.3; OFC SD+0.7; mild/moderate intellectual disability; hypotonia; broad-based gait; attention deficit hyperactivity disorder, oppositional defiant disorder, anxiety disorder; broad forehead; low-set, posteriorly rotated ears; upturned nose; no thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; hyperlordosis; periodic illnessc; bicuspid aortic valve; myopia, nystagmus, amblyopia; hypoplastic toenails; no recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270835" "00139" "00375622" "00006" "Isolated (sporadic)" "5y" "see paper; ..., birth weight 4kg; height SD−1.5; weight SD+0.5; OFC SD−0.5; mild/moderate intellectual disability; hypotonia; sensory integration problems; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; no hyperlordosis; periodic illnessc; high pain threshold; retractile testes, small genital; hyper-metropia, cilinder, strabismus; hypoplastic toenails; no recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270836" "00139" "00375623" "00006" "Isolated (sporadic)" "5y" "see paper; ..., birth weight 2,655kg; height SD−2.8; weight SD−1.9; OFC SD−1.5; mild intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; short attention, panic attacks; no broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; broad mouth; neonatal feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; small feet; no hyperlordosis; no periodic illnessc; high pain threshold; small ventricle septum defect and small open ductus arteriosus; hyper-metropia; hypoplastic toenails" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270837" "00139" "00375624" "00006" "Isolated (sporadic)" "2y" "see paper; ..., birth weight 3,742kg; height SD0; weight SD0; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; sensitivity to sounds; sensory integration problems, hyperarousal, short attention; no broad forehead; low-set, posteriorly rotated ears (right); no upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; no small hands; no small feet; no hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus, astigmatism, CVI; no hypoplastic nails; no recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270838" "00139" "00375625" "00006" "Isolated (sporadic)" "5y" "see paper; ..., birth weight 3,527kg; OFC SD−0.5; intellectual disability; hypotonia; broad-based gait; normal behavior; feeding difficulty; constipation; hyperlordosis; periodic illnessc; bilateral cryptorchidism; no vision problems; hypoplastic toenails" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270839" "00139" "00375626" "00006" "Isolated (sporadic)" "10y" "see paper; ..., birth weight 3,18kg; height SD−3; weight SD2; OFC SD−1; no intellectual disability, learning difficulties; no hypotonia; no broad-based gait; anxiety disorder, attention difficulties, biting; no broad forehead; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270840" "00139" "00375627" "00006" "Isolated (sporadic)" "9y9m" "see paper; ..., birth weight 2,2kg; height SD<−3; weight SD+0.5; OFC SD−1.8; mild/moderate intellectual disability; no hypotonia; no broad-based gait; sensitivity to sounds; sensory integration problems, anxiety, short attention; no broad forehead; no low-set, posteriorly rotated ears; no upturned nose; no thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; hyper-metropia, strabismus, astigmatism, nystagmus; no hypoplastic nails; recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270841" "00139" "00375628" "00006" "Isolated (sporadic)" "21y" "see paper; ..., birth weight 2,211kg; height SD<−2.5; weight SD<−2.5; OFC SD<−2.5; mild/moderate intellectual disability; hypotonia; no broad-based gait; sensitivity to sounds; anxiety; broad forehead; no low-set, posteriorly rotated ears; no upturned nose; thin upper lip; no broad mouth; feeding difficulty; infancy gastroesophageal reflux and/or vomiting; infancy constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; myopia, strabismus; hypoplastic fifth toenails" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270842" "00139" "00375629" "00006" "Isolated (sporadic)" "16y" "see paper; ..., birth weight 3,061kg; height SD−2.3; weight SD−2.2; OFC SD−3.1; severe intellectual disability ; hypotonia; broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; low-set, posteriorly rotated ears; no upturned nose; thin upper lip; broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; periodic illnessc; high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270843" "00139" "00375630" "00006" "Isolated (sporadic)" "6y" "see paper; ..., birth weight 2,73kg; height SD−2.5; weight SD−2; OFC SD−2.5; moderate intellectual disability; hypotonia; sensitivity to sounds; normal behavior; broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; no broad mouth; no feeding difficulty; gastro esophageal reflux and/or vomiting; no constipation; small hands; periodic illnessc; high pain threshold; laryngo-malacia; hyper-metropia, strabismus; no hypoplastic nails" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270844" "00139" "00375631" "00006" "Isolated (sporadic)" "18y" "see paper; ..., birth weight 3,2kg; height SD−2.7; weight SD−1.8; OFC SD−2.5; moderate intellectual disability; hypotonia; normal behavior; broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; broad mouth; feeding difficulty; no gastro esophageal reflux and/or vomiting; small hands; small feet; hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; hyper-metropia, strabismus; hypoplastic nails; recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270845" "00139" "00375632" "00006" "Isolated (sporadic)" "15y" "see paper; ..., birth weight 3,429kg; height SD+0.41; weight SD>+2.5; OFC SD+3.49; severe intellectual disability ; no hypotonia; no broad-based gait; autism spectrum disorder, attention problems, oppositional, aggression; no feeding difficulty; no gastro esophageal reflux and/or vomiting; no constipation; no periodic illnessc; no congenital abnormalities; no vision problems; recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270846" "00139" "00375633" "00006" "Unknown" "7y" "see paper; ..., height SD−2.6; weight SD−4.9; severe intellectual disability ; hypotonia; autism spectrum disorder; broad forehead; upturned nose; thin upper lip; no broad mouth; feeding difficulty; gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; bilateral parietal foramina, exostoses, diaphragmatic hernia, volvulus intestine (confirmed diagnosis Potocki-Shaffer syndrome); strabismus, nystagmus, iridocyclitis, retinal detachment; recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000270847" "00139" "00375634" "00006" "Isolated (sporadic)" "7y" "see paper; ..., birth weight 3,14; height SD−2; weight SD0; OFC SD−1.5; mild intellectual disability; no hypotonia; no broad-based gait; sensitivity to sounds; autism spectrum disorder; broad forehead; posteriorly rotated ears; no upturned nose; thin upper lip; no broad mouth; neonatal feeding difficulty; no gastro esophageal reflux and/or vomiting; constipation; small hands; small feet; hyperlordosis; no periodic illnessc; no high pain threshold; no congenital abnormalities; no vision problems; no hypoplastic nails; no recurrent infections" "" "" "" "" "" "" "" "" "JDVS" "intellectual disability" "" "0000332999" "05489" "00443717" "04599" "Unknown" "35" "" "" "" "" "" "" "" "" "" "" "" "" "0000347505" "05611" "00459429" "03544" "Isolated (sporadic)" "" "HP:0000684, HP:0000750, HP:000094, HP:0001263, HP:0002003, HP:0002360, HP:0004691, HP:0200096" "" "" "" "" "" "" "" "" "JDVS" "complex neurodevelopmental disorder" "" "0000351612" "06339" "00466230" "01164" "Unknown" "02y" "Delayed speech and language development, Intellectual disability, Autistic behavior" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000376816" "00375619" "1" "01164" "01164" "2021-06-14 13:20:56" "" "" "SEQ-NG-I" "DNA" "" "" "0000376818" "00375621" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376819" "00375622" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376820" "00375623" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376821" "00375624" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376822" "00375625" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376823" "00375626" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376824" "00375627" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376825" "00375628" "1" "00006" "00006" "2021-06-14 16:11:36" "00006" "2021-06-14 17:03:31" "arrayCGH;SEQ-NG" "DNA" "" "WES" "0000376826" "00375629" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376827" "00375630" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376828" "00375631" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376829" "00375632" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376830" "00375633" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000376831" "00375634" "1" "00006" "00006" "2021-06-14 16:11:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000445210" "00443717" "1" "04599" "04599" "2023-12-01 06:04:00" "" "" "SEQ-NG-I" "DNA" "Blood" "TruSight Cancer Sequencing Panel" "0000461054" "00459429" "1" "03544" "03544" "2024-12-28 13:22:55" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000467886" "00466230" "1" "01164" "01164" "2025-08-12 14:57:24" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000376816" "PPM1D" "0000445210" "PPM1D" "0000467886" "PPM1D" ## 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 = 56 "{{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}}" "0000306229" "0" "50" "17" "58740499" "58740506" "del" "0" "01943" "PPM1D_000003" "g.58740499_58740506del" "" "" "" "PPM1D(NM_003620.3):c.1404_1411delAAAAGATC (p.K469Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60663138_60663145del" "" "VUS" "" "0000325525" "0" "50" "17" "58678032" "58678032" "subst" "0.000524352" "01804" "PPM1D_000001" "g.58678032C>A" "" "" "" "PPM1D(NM_003620.3):c.257C>A (p.(Pro86Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60600671C>A" "" "VUS" "" "0000325527" "0" "30" "17" "58740581" "58740581" "subst" "0.000813471" "01804" "PPM1D_000004" "g.58740581A>G" "" "" "" "PPM1D(NM_003620.3):c.1486A>G (p.(Ile496Val)), PPM1D(NM_003620.4):c.1486A>G (p.I496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60663220A>G" "" "likely benign" "" "0000351297" "0" "70" "17" "58734163" "58734163" "subst" "4.06303E-6" "02327" "PPM1D_000006" "g.58734163T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60656802T>A" "" "likely pathogenic" "" "0000562499" "0" "50" "17" "58701088" "58701088" "subst" "0" "01943" "PPM1D_000008" "g.58701088C>T" "" "" "" "PPM1D(NM_003620.3):c.679C>T (p.R227*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60623727C>T" "" "VUS" "" "0000562500" "0" "50" "17" "58711260" "58711260" "subst" "0" "02327" "PPM1D_000009" "g.58711260C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60633899C>T" "" "VUS" "" "0000562501" "0" "90" "17" "58734152" "58734152" "subst" "0" "02327" "PPM1D_000010" "g.58734152C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60656791C>T" "" "pathogenic" "" "0000562502" "0" "30" "17" "58740382" "58740382" "subst" "4.90902E-5" "01804" "PPM1D_000011" "g.58740382G>C" "" "" "" "PPM1D(NM_003620.3):c.1287G>C (p.(Arg429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60663021G>C" "" "likely benign" "" "0000562503" "0" "90" "17" "58740623" "58740623" "subst" "0" "02327" "PPM1D_000012" "g.58740623C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60663262C>T" "" "pathogenic" "" "0000562504" "0" "30" "17" "58740702" "58740702" "subst" "0.000113795" "01804" "PPM1D_000013" "g.58740702G>A" "" "" "" "PPM1D(NM_003620.3):c.1607G>A (p.(Arg536Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60663341G>A" "" "likely benign" "" "0000562505" "0" "50" "17" "58740749" "58740749" "subst" "0" "01943" "PPM1D_000014" "g.58740749C>T" "" "" "" "PPM1D(NM_003620.3):c.1654C>T (p.R552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60663388C>T" "" "VUS" "" "0000562506" "0" "70" "17" "58740836" "58740836" "subst" "0" "02327" "PPM1D_000015" "g.58740836C>T" "" "" "" "PPM1D(NM_003620.3):c.1741C>T (p.(Arg581*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60663475C>T" "" "likely pathogenic" "" "0000562507" "0" "50" "17" "58740891" "58740891" "subst" "0" "02325" "PPM1D_000016" "g.58740891G>A" "" "" "" "PPM1D(NM_003620.4):c.1796G>A (p.R599K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60663530G>A" "" "VUS" "" "0000680944" "0" "30" "17" "58677906" "58677906" "subst" "0.000276247" "02325" "PPM1D_000017" "g.58677906C>G" "" "" "" "PPM1D(NM_003620.4):c.131C>G (p.S44W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680945" "0" "30" "17" "58740581" "58740581" "subst" "0.000813471" "02325" "PPM1D_000004" "g.58740581A>G" "" "" "" "PPM1D(NM_003620.3):c.1486A>G (p.(Ile496Val)), PPM1D(NM_003620.4):c.1486A>G (p.I496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692417" "0" "90" "17" "58740482" "58740483" "ins" "0" "02327" "PPM1D_000018" "g.58740482_58740483insTA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726555" "0" "30" "17" "58700882" "58700882" "subst" "4.11052E-6" "01943" "PPM1D_000019" "g.58700882C>T" "" "" "" "PPM1D(NM_003620.3):c.473C>T (p.A158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726556" "0" "70" "17" "58740535" "58740535" "del" "0" "02325" "PPM1D_000020" "g.58740535del" "" "" "" "PPM1D(NM_003620.4):c.1440delA (p.A481Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726557" "0" "70" "17" "58740749" "58740749" "subst" "0" "02327" "PPM1D_000014" "g.58740749C>T" "" "" "" "PPM1D(NM_003620.3):c.1654C>T (p.R552*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000788869" "0" "70" "17" "58740836" "58740836" "subst" "0" "01164" "PPM1D_000015" "g.58740836C>T" "" "PubMed: 28343630" "" "" "ACMG: PVS1_N/A (NMD not predicted); PM2_SUP; PubMed: 28343630: All mutations were located in the last or penultimate exon (exons 5 and 6) and were predicted to escape nonsense-mediated mRNA decay, resulting in a truncated protein that would retain the functional phosphatase domain but lack the nuclear localization signal" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000788870" "0" "90" "17" "58734163" "58734163" "subst" "4.06303E-6" "00006" "PPM1D_000006" "g.58734163T>A" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60656802T>A" "" "pathogenic (dominant)" "" "0000788871" "0" "90" "17" "58734158" "58734158" "del" "0" "00006" "PPM1D_000005" "g.58734158del" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60656797del" "" "pathogenic (dominant)" "" "0000788872" "0" "90" "17" "58734203" "58734203" "dup" "0" "00006" "PPM1D_000007" "g.58734203dup" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60656842dup" "" "pathogenic (dominant)" "" "0000788873" "0" "90" "17" "58734152" "58734152" "subst" "0" "00006" "PPM1D_000010" "g.58734152C>T" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60656791C>T" "" "pathogenic (dominant)" "" "0000788874" "0" "90" "17" "58740364" "58740365" "dup" "0" "00006" "PPM1D_000023" "g.58740364_58740365dup" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663003_60663004dup" "" "pathogenic (dominant)" "" "0000788875" "0" "90" "17" "58740434" "58740434" "subst" "4.06157E-6" "00006" "PPM1D_000026" "g.58740434G>T" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663073G>T" "" "pathogenic (dominant)" "" "0000788876" "0" "90" "17" "58734130" "58734133" "del" "0" "00006" "PPM1D_000021" "g.58734130_58734133del" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60656769_60656772del" "" "pathogenic (dominant)" "" "0000788877" "0" "90" "17" "58734192" "58734192" "dup" "0" "00006" "PPM1D_000022" "g.58734192dup" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60656831dup" "" "pathogenic (dominant)" "" "0000788878" "0" "90" "17" "58740365" "58740365" "dup" "0" "00006" "PPM1D_000024" "g.58740365dup" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663004dup" "" "pathogenic (dominant)" "" "0000788879" "0" "90" "17" "58740365" "58740365" "dup" "0" "00006" "PPM1D_000024" "g.58740365dup" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663004dup" "" "pathogenic (dominant)" "" "0000788880" "0" "90" "17" "58740376" "58740376" "subst" "0" "00006" "PPM1D_000025" "g.58740376G>A" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663015G>A" "" "pathogenic (dominant)" "" "0000788881" "0" "90" "17" "58740376" "58740376" "subst" "0" "00006" "PPM1D_000025" "g.58740376G>A" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663015G>A" "" "pathogenic (dominant)" "" "0000788882" "0" "90" "17" "58740749" "58740749" "subst" "0" "00006" "PPM1D_000014" "g.58740749C>T" "" "{PMID:Jansen 2017:28343630}" "" "" "carries also 5.8 Mb deletion del(11)(p12p11.2) explaining Potocki-Shaffer syndrome" "Germline/De novo (untested)" "" "" "0" "" "" "g.60663388C>T" "" "pathogenic (dominant)" "" "0000788883" "0" "90" "17" "58740499" "58740506" "del" "0" "00006" "PPM1D_000003" "g.58740499_58740506del" "" "{PMID:Jansen 2017:28343630}" "" "" "" "De novo" "" "" "0" "" "" "g.60663138_60663145del" "" "pathogenic (dominant)" "" "0000808151" "0" "70" "17" "58740732" "58740732" "del" "0" "01943" "PPM1D_000027" "g.58740732del" "" "" "" "PPM1D(NM_003620.3):c.1637delT (p.L546Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000855026" "0" "90" "17" "58740536" "58740536" "del" "0" "01943" "PPM1D_000028" "g.58740536del" "" "" "" "PPM1D(NM_003620.3):c.1441delG (p.A481Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855027" "0" "90" "17" "58740537" "58740537" "subst" "0" "01943" "PPM1D_000029" "g.58740537C>A" "" "" "" "PPM1D(NM_003620.3):c.1442C>A (p.A481D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894074" "0" "90" "17" "58740373" "58740373" "dup" "0" "02327" "PPM1D_000030" "g.58740373dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894075" "0" "70" "17" "58740498" "58740498" "subst" "4.06402E-6" "02329" "PPM1D_000031" "g.58740498C>G" "" "" "" "PPM1D(NM_003620.4):c.1403C>G (p.S468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894076" "0" "30" "17" "58740500" "58740500" "subst" "0.000463268" "02325" "PPM1D_000032" "g.58740500A>G" "" "" "" "PPM1D(NM_003620.4):c.1405A>G (p.K469E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914923" "0" "90" "17" "58740402" "58740403" "del" "0" "02325" "PPM1D_000033" "g.58740402_58740403del" "" "" "" "PPM1D(NM_003620.4):c.1307_1308delTA (p.I436Tfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950971" "0" "90" "17" "58740366" "58740367" "dup" "0" "02329" "PPM1D_000034" "g.58740366_58740367dup" "" "" "" "PPM1D(NM_003620.4):c.1271_1272dupAG (p.D425Rfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000952112" "0" "90" "17" "58740749" "58740749" "subst" "0" "04599" "PPM1D_000014" "g.58740749C>T" "" "" "" "Arg552*" "" "Germline" "" "rs779070661" "0" "" "" "g.60663388C>T" "620148" "likely pathogenic" "ACMG" "0000982665" "0" "30" "17" "58725453" "58725453" "subst" "0" "01804" "PPM1D_000036" "g.58725453G>T" "" "" "" "PPM1D(NM_003620.4):c.1017+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003461" "0" "30" "17" "58733963" "58733963" "subst" "0" "01804" "PPM1D_000037" "g.58733963G>A" "" "" "" "PPM1D(NM_003620.3):c.1021G>A (p.(Glu341Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003462" "0" "30" "17" "58734119" "58734119" "subst" "4.0621E-5" "01804" "PPM1D_000038" "g.58734119C>G" "" "" "" "PPM1D(NM_003620.3):c.1177C>G (p.(Leu393Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003463" "0" "30" "17" "58740501" "58740501" "subst" "0" "01804" "PPM1D_000039" "g.58740501A>G" "" "" "" "PPM1D(NM_003620.3):c.1406A>G (p.(Lys469Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003464" "0" "30" "17" "58740555" "58740555" "subst" "8.1318E-6" "01804" "PPM1D_000040" "g.58740555A>G" "" "" "" "PPM1D(NM_003620.3):c.1460A>G (p.(His487Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003465" "0" "30" "17" "58740785" "58740785" "subst" "0" "01804" "PPM1D_000041" "g.58740785G>C" "" "" "" "PPM1D(NM_003620.3):c.1690G>C (p.(Ala564Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003466" "0" "50" "17" "58740819" "58740819" "subst" "0" "01804" "PPM1D_000042" "g.58740819C>T" "" "" "" "PPM1D(NM_003620.3):c.1724C>T (p.(Ser575Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003467" "0" "50" "17" "58740836" "58740836" "subst" "0" "01804" "PPM1D_000015" "g.58740836C>T" "" "" "" "PPM1D(NM_003620.3):c.1741C>T (p.(Arg581*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015579" "0" "30" "17" "58740438" "58740438" "subst" "0.000134032" "02325" "PPM1D_000043" "g.58740438A>G" "" "" "" "PPM1D(NM_003620.4):c.1343A>G (p.N448S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001020145" "0" "70" "17" "58740368" "58740369" "ins" "0" "03544" "PPM1D_000044" "g.58740368_58740369insT" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.60663007_60663008insT" "{CV:3544373}" "likely pathogenic" "ACMG" "0001026998" "0" "50" "17" "58734154" "58734154" "subst" "0" "02325" "PPM1D_000045" "g.58734154A>C" "" "" "" "PPM1D(NM_003620.4):c.1212A>C (p.Q404H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047296" "0" "50" "17" "58740821" "58740822" "del" "0" "01164" "PPM1D_000046" "g.58740821_58740822del" "" "" "" "" "ACMG: PVS1_moderate, PM2_supporting" "Germline" "?" "" "0" "" "" "g.60663460_60663461del" "VCV003612826.1" "VUS (!)" "ACMG" "0001056113" "0" "50" "17" "58740696" "58740697" "dup" "0" "01804" "PPM1D_000047" "g.58740696_58740697dup" "" "" "" "PPM1D(NM_003620.4):c.1601_1602dup (p.(Lys535Leufs*5))" "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 PPM1D ## Count = 56 "{{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}}" "0000306229" "00016636" "50" "1404" "0" "1411" "0" "c.1404_1411del" "r.(?)" "p.(Lys469ArgfsTer4)" "" "0000325525" "00016636" "50" "257" "0" "257" "0" "c.257C>A" "r.(?)" "p.(Pro86Gln)" "" "0000325527" "00016636" "30" "1486" "0" "1486" "0" "c.1486A>G" "r.(?)" "p.(Ile496Val)" "" "0000351297" "00016636" "70" "1221" "0" "1221" "0" "c.1221T>A" "r.(?)" "p.(Cys407Ter)" "" "0000562499" "00016636" "50" "679" "0" "679" "0" "c.679C>T" "r.(?)" "p.(Arg227Ter)" "" "0000562500" "00016636" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Arg250Ter)" "" "0000562501" "00016636" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Gln404Ter)" "" "0000562502" "00016636" "30" "1287" "0" "1287" "0" "c.1287G>C" "r.(?)" "p.(Arg429Ser)" "" "0000562503" "00016636" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Gln510Ter)" "" "0000562504" "00016636" "30" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536Lys)" "" "0000562505" "00016636" "50" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Ter)" "" "0000562506" "00016636" "70" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "" "0000562507" "00016636" "50" "1796" "0" "1796" "0" "c.1796G>A" "r.(?)" "p.(Arg599Lys)" "" "0000680944" "00016636" "30" "131" "0" "131" "0" "c.131C>G" "r.(?)" "p.(Ser44Trp)" "" "0000680945" "00016636" "30" "1486" "0" "1486" "0" "c.1486A>G" "r.(?)" "p.(Ile496Val)" "" "0000692417" "00016636" "90" "1387" "0" "1388" "0" "c.1387_1388insTA" "r.(?)" "p.(Gly463ValfsTer3)" "" "0000726555" "00016636" "30" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "" "0000726556" "00016636" "70" "1440" "0" "1440" "0" "c.1440del" "r.(?)" "p.(Ala481Profs*2)" "" "0000726557" "00016636" "70" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Ter)" "" "0000788869" "00016636" "70" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581*)" "6" "0000788870" "00016636" "90" "1221" "0" "1221" "0" "c.1221T>A" "r.(?)" "p.(Cys407Ter)" "" "0000788871" "00016636" "90" "1216" "0" "1216" "0" "c.1216del" "r.(?)" "p.(Thr406ProfsTer3)" "" "0000788872" "00016636" "90" "1260" "1" "1260" "1" "c.1260+1dup" "r.spl" "p.(Ser421ThrfsTer12)" "" "0000788873" "00016636" "90" "1210" "0" "1210" "0" "c.1210C>T" "r.(?)" "p.(Gln404Ter)" "" "0000788874" "00016636" "90" "1269" "0" "1270" "0" "c.1269_1270dup" "r.(?)" "p.(Glu424GlyfsTer8)" "" "0000788875" "00016636" "90" "1339" "0" "1339" "0" "c.1339G>T" "r.(?)" "p.(Glu447Ter)" "" "0000788876" "00016636" "90" "1188" "0" "1191" "0" "c.1188_1191del" "r.(?)" "p.(Asp397AlafsTer11)" "" "0000788877" "00016636" "90" "1250" "0" "1250" "0" "c.1250dup" "r.(?)" "p.(Pro418ThrfsTer16)" "" "0000788878" "00016636" "90" "1270" "0" "1270" "0" "c.1270dup" "r.(?)" "p.(Glu424GlyfsTer10)" "" "0000788879" "00016636" "90" "1270" "0" "1270" "0" "c.1270dup" "r.(?)" "p.(Glu424GlyfsTer10)" "" "0000788880" "00016636" "90" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Trp427Ter)" "" "0000788881" "00016636" "90" "1281" "0" "1281" "0" "c.1281G>A" "r.(?)" "p.(Trp427Ter)" "" "0000788882" "00016636" "90" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Ter)" "" "0000788883" "00016636" "90" "1404" "0" "1411" "0" "c.1404_1411del" "r.(?)" "p.(Lys469ArgfsTer4)" "" "0000808151" "00016636" "70" "1637" "0" "1637" "0" "c.1637del" "r.(?)" "p.(Leu546Argfs*2)" "" "0000855026" "00016636" "90" "1441" "0" "1441" "0" "c.1441del" "r.(?)" "p.(Ala481Profs*2)" "" "0000855027" "00016636" "90" "1442" "0" "1442" "0" "c.1442C>A" "r.(?)" "p.(Ala481Asp)" "" "0000894074" "00016636" "90" "1278" "0" "1278" "0" "c.1278dup" "r.(?)" "p.(Trp427Metfs*7)" "" "0000894075" "00016636" "70" "1403" "0" "1403" "0" "c.1403C>G" "r.(?)" "p.(Ser468*)" "" "0000894076" "00016636" "30" "1405" "0" "1405" "0" "c.1405A>G" "r.(?)" "p.(Lys469Glu)" "" "0000914923" "00016636" "90" "1307" "0" "1308" "0" "c.1307_1308del" "r.(?)" "p.(Ile436Thrfs*6)" "" "0000950971" "00016636" "90" "1271" "0" "1272" "0" "c.1271_1272dup" "r.(?)" "p.(Asp425Argfs*7)" "" "0000952112" "00016636" "90" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552*)" "" "0000982665" "00016636" "30" "1017" "10" "1017" "10" "c.1017+10G>T" "r.(=)" "p.(=)" "" "0001003461" "00016636" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Glu341Lys)" "" "0001003462" "00016636" "30" "1177" "0" "1177" "0" "c.1177C>G" "r.(?)" "p.(Leu393Val)" "" "0001003463" "00016636" "30" "1406" "0" "1406" "0" "c.1406A>G" "r.(?)" "p.(Lys469Arg)" "" "0001003464" "00016636" "30" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(His487Arg)" "" "0001003465" "00016636" "30" "1690" "0" "1690" "0" "c.1690G>C" "r.(?)" "p.(Ala564Pro)" "" "0001003466" "00016636" "50" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Ser575Phe)" "" "0001003467" "00016636" "50" "1741" "0" "1741" "0" "c.1741C>T" "r.(?)" "p.(Arg581Ter)" "" "0001015579" "00016636" "30" "1343" "0" "1343" "0" "c.1343A>G" "r.(?)" "p.(Asn448Ser)" "" "0001020145" "00016636" "70" "1273" "0" "1274" "0" "c.1273_1274insT" "r.(?)" "p.(Asp425Valfs*9)" "6" "0001026998" "00016636" "50" "1212" "0" "1212" "0" "c.1212A>C" "r.(?)" "p.(Gln404His)" "" "0001047296" "00016636" "50" "1726" "0" "1727" "0" "c.1726_1727del" "r.(1726_1727)" "p.(Val576*)" "6" "0001056113" "00016636" "50" "1601" "0" "1602" "0" "c.1601_1602dup" "r.(?)" "p.(Lys535Leufs*5)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000376816" "0000788869" "0000376818" "0000788870" "0000376819" "0000788871" "0000376820" "0000788872" "0000376821" "0000788873" "0000376822" "0000788874" "0000376823" "0000788875" "0000376824" "0000788876" "0000376825" "0000788877" "0000376826" "0000788878" "0000376827" "0000788879" "0000376828" "0000788880" "0000376829" "0000788881" "0000376830" "0000788882" "0000376831" "0000788883" "0000445210" "0000952112" "0000461054" "0001020145" "0000467886" "0001047296"