### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PHIP) # 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}}" "PHIP" "pleckstrin homology domain interacting protein" "6" "q14" "unknown" "NG_051932.1" "UD_132465178127" "" "https://www.LOVD.nl/PHIP" "" "1" "15673" "55023" "612870" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PHIP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-07 19:32:44" "00006" "2026-03-10 17:33:08" ## 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}}" "00016096" "PHIP" "pleckstrin homology domain interacting protein" "001" "NM_017934.5" "" "NP_060404.3" "" "" "" "-226" "11740" "5466" "79788011" "79644136" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05532" "MRD" "mental retardation, autosomal dominant (MRD, intellectual disability (IDD))" "" "" "" "autosomal dominant" "" "00006" "2018-12-18 09:20:18" "00006" "2018-12-18 09:24:21" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06713" "CHUJANS" "Chung-Jansen syndrome" "AD" "617991" "" "large ears, thick eyebrows, synophrys, small nose; global developmental delay (HP:0001263); intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); no short stature (-HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); tapering fingers, cafe au lait spots, behavioral manifestations" "" "00006" "2021-12-10 23:20:41" "00006" "2023-01-03 20:43:23" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PHIP" "06713" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00183044" "" "" "" "1" "" "00006" "{PMID:de Ligt 2012:23033978}" "" "F" "" "Netherlands" "" "0" "" "" "" "23033978-Trio05" "00207311" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00207719" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00307705" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411669" "00307961" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "F" "" "" "" "0" "" "" "" "15DG2307" "00363189" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00381101" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "183041" "00390064" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "" "M" "" "Cyprus" "" "0" "" "" "Greece" "Pat11" "00391753" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "097P" "00410584" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "M" "" "Belgium" "" "0" "" "" "" "Pat46" "00412205" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "199855" "00416289" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "203839" "00434431" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "21672" "00447880" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "282508" "00460973" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00461051" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00466863" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00467554" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00474091" "" "" "" "1" "" "00006" "{PMID:Boukas 2026:41795468}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "Duo4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00183044" "00139" "00207311" "00198" "00207719" "00198" "00307705" "00139" "00307961" "00139" "00363189" "00198" "00381101" "05532" "00390064" "00198" "00391753" "00198" "00410584" "00198" "00412205" "06713" "00416289" "06713" "00434431" "06713" "00447880" "06713" "00460973" "00198" "00461051" "00198" "00466863" "05611" "00467554" "05611" "00474091" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05532, 05611, 06713 ## Count = 15 "{{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}}" "0000143797" "00139" "00183044" "00006" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "" "intellectual disability (ID)" "" "0000155105" "00198" "00207311" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Increased body weight (HP:0004324); Impulsivity (HP:0100710); Mood swings (HP:0000720)" "" "" "" "" "" "" "" "" "" "" "" "0000155509" "00198" "00207719" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Obesity (HP:0001513); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000233384" "00139" "00307961" "00006" "Familial, autosomal dominant" "9y" "see paper; ..., Intellectual disability, Neonatal hypotonia, Camptodactyly, Vesicoureteral reflux, Recurrent urinary tract infections, Abnormality of the ureter, Joint laxity" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000258555" "00198" "00363189" "01807" "Unknown" "" "Tall stature (HP:0000098); High forehead (HP:0000348); Telecanthus (HP:0000506); Thick eyebrow (HP:0000574); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Memory impairment (HP:0002354)" "" "" "" "" "" "" "" "" "" "" "" "0000274952" "05532" "00381101" "01164" "Isolated (sporadic)" "07y" "Delayed speech and language development, Autistic behavior, Attention deficit hyperactivity disorder, Precocious puberty, Stereotypy, Global developmental delay" "" "" "" "" "" "" "" "" "CHUJANS" "" "" "0000283603" "00198" "00390064" "00006" "Isolated (sporadic)" "25y" "developmental delay, mild myopathy, right orchiopexy, horseshoe kidney, anger issues, shirt terminal phalanges, lactose intolerance, lipomastia, slanting palpebral fissures, brachydactyly, tapering fingers, mild retrognathia, increased laxity, coordination issues" "" "" "" "" "" "" "" "" "" "" "" "0000302687" "00198" "00410584" "00006" "Isolated (sporadic)" "" "see paper; ..., onset childhood, intellectual disability, psychiatric disorders, myopathy, axonal polyneuropathy, dysarthria, facial dysmorphism, no family history" "" "" "" "" "" "" "" "" "Chung-Jansen syndrome (617991)" "" "" "0000304219" "06713" "00412205" "01164" "Unknown" "02y" "Delayed speech and language development, Broad nasal tip, High hypermetropia (+10 dt)" "" "" "" "" "" "" "" "" "" "" "" "0000308056" "06713" "00416289" "01164" "Unknown" "08y" "Facial hypotonia, Oral motor hypotonia, Hypomimic face, Neurodevelopmental delay, Global developmental delay, Attention deficit hyperactivity disorder, Hypoplasia of the musculature, Exercise-induced muscle fatigue, Intellectual disability, profound, Delayed speech and language development, Gait disturbance, Intention tremor, Pica, Tapering pointed ends of distal finger phalanges, Clinodactyly, High palate, Hypodontia, Downslanted palpebral fissures, Single transverse palmar crease, Micrognathia, Hyporeflexia, Poor gross motor coordination" "" "" "" "" "" "" "" "" "" "" "" "0000324769" "06713" "00434431" "01164" "Isolated (sporadic)" "13y" "Obesity, Micropenis, Abnormal testis morphology, Hypogonadism, Motor delay, Delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000337074" "06713" "00447880" "01164" "Unknown" "07y" "Delayed speech and language development, Speech articulation difficulties, Failure to thrive, Intellectual disability, borderline, Oromotor apraxia; \r\nSevere speech development disorder including oral motor and articulation, brother also affected (not analyzed), EEG (A.v. ESES) and MRI normal, IQ of 75 (KABC-II test), visual perception 63, PR < 1 (FEW-2), dystrophy;" "02y" "" "" "" "" "" "" "" "" "" "" "0000352227" "05611" "00466863" "03544" "Isolated (sporadic)" "" "HP:0012758, HP:0001513, HP:0001263" "" "" "" "" "" "" "" "" "CHUJANS" "complex NDD" "" "0000352761" "05611" "00467554" "03544" "Isolated (sporadic)" "" "HP:0001263, HP:0001999, HP:0030084, HP:0008386, HP:0001537, HP:0001655, HP:0025502" "" "" "" "" "" "" "" "" "CHUJANS" "complex NDD" "" "0000358891" "00198" "00474091" "00006" "Isolated (sporadic)" "" "developmental delays, syndromic features; phenotype consistent with Chung-Jansen syndrome" "" "" "" "" "" "" "" "" "CHUJANS" "developmental delays" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184004" "00183044" "1" "00006" "00006" "2018-10-12 16:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000208347" "00207311" "1" "01807" "01807" "2018-11-19 18:05:18" "" "" "SEQ" "DNA" "" "" "0000208760" "00207719" "1" "01807" "01807" "2018-11-30 12:33:09" "" "" "SEQ" "DNA" "" "" "0000308845" "00307705" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000309105" "00307961" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000364417" "00363189" "1" "01807" "01807" "2021-04-26 10:23:01" "" "" "SEQ" "DNA" "" "" "0000382316" "00381101" "1" "01164" "01164" "2021-08-26 10:42:19" "" "" "SEQ-NG-I" "DNA" "" "" "0000391305" "00390064" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000392995" "00391753" "1" "02494" "02494" "2021-11-18 13:48:06" "" "" "SEQ-NG" "DNA" "" "WES" "0000411849" "00410584" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000413478" "00412205" "1" "01164" "01164" "2022-06-24 10:21:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000417569" "00416289" "1" "01164" "01164" "2022-08-26 10:56:49" "" "" "SEQ-NG-I" "DNA" "" "" "0000435899" "00434431" "1" "01164" "01164" "2023-03-24 16:31:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000449452" "00447880" "1" "01164" "01164" "2024-01-30 13:20:42" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000462605" "00460973" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000462683" "00461051" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000468527" "00466863" "1" "03544" "03544" "2025-09-25 10:45:14" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000469218" "00467554" "1" "03544" "03544" "2025-10-17 11:35:30" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000475761" "00474091" "1" "00006" "00006" "2026-03-10 17:31:40" "" "" "SEQ-PB" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000308845" "PHIP" "0000309105" "PHIP" "0000382316" "PHIP" "0000413478" "PHIP" "0000417569" "PHIP" "0000417569" "SPEN" "0000435899" "PHIP" "0000449452" "PHIP" "0000462605" "PHIP" "0000462683" "PHIP" ## 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 = 133 "{{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}}" "0000248584" "0" "10" "6" "79679577" "79679577" "subst" "0.522326" "02325" "PHIP_000004" "g.79679577A>G" "" "" "" "PHIP(NM_017934.7):c.3180T>C (p.D1060=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78969860A>G" "" "benign" "" "0000248943" "0" "10" "6" "79708000" "79708000" "subst" "0.944047" "02325" "PHIP_000008" "g.79708000A>C" "" "" "" "PHIP(NM_017934.7):c.1988T>G (p.V663G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78998283A>C" "" "benign" "" "0000249600" "0" "70" "6" "79679597" "79679597" "del" "0" "02325" "PHIP_000005" "g.79679597del" "" "" "" "PHIP(NM_017934.7):c.3161delT (p.L1054*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78969880del" "" "likely pathogenic" "" "0000250551" "0" "50" "6" "79657437" "79657437" "subst" "0" "02329" "PHIP_000003" "g.79657437A>G" "" "" "" "PHIP(NM_017934.7):c.4109T>C (p.L1370S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78947720A>G" "" "VUS" "" "0000253805" "0" "10" "6" "79656610" "79656610" "del" "0" "01943" "PHIP_000001" "g.79656610del" "" "" "" "PHIP(NM_017934.6):c.4207-10delT, PHIP(NM_017934.7):c.4207-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78946893del" "" "benign" "" "0000296941" "0" "50" "6" "79700600" "79700600" "subst" "0" "02325" "PHIP_000007" "g.79700600T>C" "" "" "" "PHIP(NM_017934.7):c.2304A>G (p.I768M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78990883T>C" "" "VUS" "" "0000296942" "0" "10" "6" "79657391" "79657391" "subst" "0.504852" "02325" "PHIP_000002" "g.79657391G>A" "" "" "" "PHIP(NM_017934.7):c.4155C>T (p.V1385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78947674G>A" "" "benign" "" "0000305540" "0" "30" "6" "79735759" "79735759" "subst" "0.00105647" "01943" "PHIP_000011" "g.79735759T>C" "" "" "" "PHIP(NM_017934.6):c.723A>G (p.A241=), PHIP(NM_017934.7):c.723A>G (p.A241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79026042T>C" "" "likely benign" "" "0000331101" "0" "50" "6" "79735332" "79735332" "subst" "0" "01804" "PHIP_000010" "g.79735332G>A" "" "" "" "PHIP(NM_017934.5):c.827C>T (p.(Ser276Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79025615G>A" "" "VUS" "" "0000341843" "0" "30" "6" "79664656" "79664656" "subst" "1.42326E-5" "02327" "PHIP_000013" "g.79664656G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78954939G>A" "" "likely benign" "" "0000341872" "0" "70" "6" "79657486" "79657486" "subst" "0" "02327" "PHIP_000012" "g.79657486T>A" "" "" "" "PHIP(NM_017934.5):c.4060A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78947769T>A" "" "likely pathogenic" "" "0000343876" "0" "50" "6" "79675689" "79675689" "subst" "0" "02327" "PHIP_000016" "g.79675689T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78965972T>C" "" "VUS" "" "0000344353" "0" "70" "6" "79728824" "79728824" "subst" "0" "02327" "PHIP_000017" "g.79728824A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79019107A>G" "" "likely pathogenic" "" "0000344516" "0" "70" "6" "79671492" "79671492" "subst" "0" "02327" "PHIP_000015" "g.79671492G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78961775G>A" "" "likely pathogenic" "" "0000344726" "0" "70" "6" "79735662" "79735662" "subst" "0" "02327" "PHIP_000019" "g.79735662G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79025945G>A" "" "likely pathogenic" "" "0000407942" "0" "70" "6" "79672902" "79672902" "subst" "0" "00006" "PHIP_000020" "g.79672902A>C" "" "{PMID:de Ligt 2012:23033978}" "" "NM_07934.5:c.3447T>G (Tyr1149*)" "candidate variant" "De novo" "" "" "0" "" "" "g.78963185A>C" "" "likely pathogenic" "" "0000438177" "0" "90" "6" "79724816" "79724816" "subst" "4.07501E-6" "01807" "PHIP_000009" "g.79724816G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.79015099G>A" "" "pathogenic" "" "0000438717" "0" "70" "6" "79735299" "79735299" "subst" "0" "01807" "PHIP_000021" "g.79735299G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.79025582G>T" "" "likely pathogenic" "" "0000529868" "0" "90" "6" "79655820" "79655820" "subst" "0" "02327" "PHIP_000022" "g.79655820G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78946103G>A" "" "pathogenic" "" "0000529869" "0" "90" "6" "79655835" "79655835" "subst" "0" "02325" "PHIP_000023" "g.79655835G>A" "" "" "" "PHIP(NM_017934.7):c.4513C>T (p.R1505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78946118G>A" "" "pathogenic" "" "0000529871" "0" "70" "6" "79655916" "79655917" "del" "0" "02329" "PHIP_000025" "g.79655916_79655917del" "" "" "" "PHIP(NM_017934.7):c.4431_4432delAT (p.F1478Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78946199_78946200del" "" "likely pathogenic" "" "0000529872" "0" "70" "6" "79672849" "79672849" "subst" "0" "02327" "PHIP_000026" "g.79672849C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78963132C>A" "" "likely pathogenic" "" "0000529873" "0" "70" "6" "79675471" "79675471" "subst" "0" "01943" "PHIP_000027" "g.79675471C>A" "" "" "" "PHIP(NM_017934.6):c.3328G>T (p.G1110*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78965754C>A" "" "likely pathogenic" "" "0000529874" "0" "90" "6" "79679817" "79679817" "del" "0" "02327" "PHIP_000028" "g.79679817del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78970100del" "" "pathogenic" "" "0000529875" "0" "50" "6" "79679857" "79679857" "subst" "0" "02329" "PHIP_000029" "g.79679857A>T" "" "" "" "PHIP(NM_017934.7):c.3031T>A (p.Y1011N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78970140A>T" "" "VUS" "" "0000529876" "0" "90" "6" "79680573" "79680573" "subst" "0" "01943" "PHIP_000030" "g.79680573A>T" "" "" "" "PHIP(NM_017934.6):c.2922T>A (p.Y974*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78970856A>T" "" "pathogenic" "" "0000529877" "0" "50" "6" "79680592" "79680592" "subst" "0" "02329" "PHIP_000031" "g.79680592C>G" "" "" "" "PHIP(NM_017934.7):c.2903G>C (p.R968P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78970875C>G" "" "VUS" "" "0000529879" "0" "50" "6" "79688310" "79688310" "subst" "0" "02327" "PHIP_000032" "g.79688310T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78978593T>C" "" "VUS" "" "0000529881" "0" "70" "6" "79692627" "79692630" "del" "0" "02329" "PHIP_000034" "g.79692627_79692630del" "" "" "" "PHIP(NM_017934.7):c.2744_2747delAGAA (p.K915Sfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78982910_78982913del" "" "likely pathogenic" "" "0000529886" "0" "50" "6" "79726300" "79726300" "subst" "0" "02329" "PHIP_000039" "g.79726300C>T" "" "" "" "PHIP(NM_017934.7):c.1196G>A (p.W399*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79016583C>T" "" "VUS" "" "0000529887" "0" "90" "6" "79726304" "79726304" "subst" "0" "02327" "PHIP_000040" "g.79726304C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79016587C>A" "" "pathogenic" "" "0000529888" "0" "50" "6" "79735258" "79735258" "subst" "0" "02327" "PHIP_000041" "g.79735258C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79025541C>A" "" "VUS" "" "0000529889" "0" "50" "6" "79752619" "79752620" "ins" "0" "02327" "PHIP_000042" "g.79752619_79752620insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79042902_79042903insT" "" "VUS" "" "0000610530" "0" "70" "6" "79657383" "79657383" "subst" "0" "02327" "PHIP_000043" "g.79657383A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78947666A>G" "" "likely pathogenic" "" "0000610531" "0" "70" "6" "79700686" "79700687" "dup" "0" "02327" "PHIP_000044" "g.79700686_79700687dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78990969_78990970dup" "" "likely pathogenic" "" "0000610532" "0" "30" "6" "79707136" "79707136" "subst" "0" "02327" "PHIP_000045" "g.79707136T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78997419T>C" "" "likely benign" "" "0000610533" "0" "50" "6" "79752571" "79752571" "subst" "0" "02329" "PHIP_000049" "g.79752571G>A" "" "" "" "PHIP(NM_017934.7):c.589C>T (p.R197W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79042854G>A" "" "VUS" "" "0000621772" "0" "30" "6" "79713537" "79713537" "subst" "0.00121535" "02330" "PHIP_000047" "g.79713537T>C" "" "" "" "PHIP(NM_017934.7):c.1563A>G (p.K521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79003820T>C" "" "likely benign" "" "0000621773" "0" "70" "6" "79735658" "79735658" "subst" "0" "01943" "PHIP_000048" "g.79735658A>G" "" "" "" "PHIP(NM_017934.6):c.822+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79025941A>G" "" "likely pathogenic" "" "0000655667" "0" "30" "6" "79655879" "79655879" "subst" "1.62484E-5" "02325" "PHIP_000051" "g.79655879T>C" "" "" "" "PHIP(NM_017934.7):c.4469A>G (p.N1490S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78946162T>C" "" "likely benign" "" "0000655668" "0" "70" "6" "79668190" "79668190" "dup" "0" "02327" "PHIP_000052" "g.79668190dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78958473dup" "" "likely pathogenic" "" "0000677894" "0" "50" "6" "79725344" "79725344" "subst" "0" "01943" "PHIP_000053" "g.79725344C>A" "" "" "" "PHIP(NM_017934.6):c.1389+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683279" "0" "70" "6" "79727245" "79727245" "del" "0" "00006" "PHIP_000054" "g.79727245del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.79017528del" "" "likely pathogenic (dominant)" "" "0000683568" "0" "90" "6" "79752583" "79752583" "subst" "0" "00006" "PHIP_000055" "g.79752583G>A" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PS2" "De novo" "" "" "0" "" "" "g.79042866G>A" "" "pathogenic (dominant)" "ACMG" "0000721110" "0" "70" "6" "79655901" "79655901" "subst" "4.06213E-6" "02327" "PHIP_000056" "g.79655901G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721111" "0" "50" "6" "79671522" "79671522" "subst" "9.56492E-5" "02329" "PHIP_000057" "g.79671522C>A" "" "" "" "PHIP(NM_017934.7):c.3541G>T (p.A1181S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721112" "0" "50" "6" "79711632" "79711632" "subst" "4.07375E-6" "02329" "PHIP_000046" "g.79711632C>T" "" "" "" "PHIP(NM_017934.7):c.1863G>A (p.M621I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721113" "0" "70" "6" "79724935" "79724935" "subst" "0" "02329" "PHIP_000037" "g.79724935T>C" "" "" "" "PHIP(NM_017934.7):c.1390-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721114" "0" "50" "6" "79725402" "79725402" "subst" "0" "02329" "PHIP_000038" "g.79725402T>C" "" "" "" "PHIP(NM_017934.7):c.1334A>G (p.N445S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721115" "0" "30" "6" "79727197" "79727197" "subst" "0" "02325" "PHIP_000058" "g.79727197T>C" "" "" "" "PHIP(NM_017934.7):c.1095+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721116" "0" "50" "6" "79770466" "79770466" "subst" "0" "02329" "PHIP_000050" "g.79770466C>G" "" "" "" "PHIP(NM_017934.7):c.259G>C (p.E87Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721117" "0" "70" "6" "79787637" "79787637" "subst" "0" "01943" "PHIP_000059" "g.79787637G>T" "" "" "" "PHIP(NM_017934.6):c.41-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000765197" "0" "90" "6" "79655946" "79655946" "subst" "0" "01807" "PHIP_000060" "g.79655946G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796075" "0" "70" "6" "79655820" "79655820" "subst" "0" "01164" "PHIP_000022" "g.79655820G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000802743" "0" "30" "6" "79650764" "79650764" "subst" "3.25547E-5" "02325" "PHIP_000061" "g.79650764A>C" "" "" "" "PHIP(NM_017934.7):c.5112T>G (p.D1704E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802744" "0" "70" "6" "79752696" "79752696" "subst" "0" "02329" "PHIP_000062" "g.79752696A>G" "" "" "" "PHIP(NM_017934.7):c.464T>C (p.L155P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000802745" "0" "70" "6" "79787783" "79787783" "subst" "0" "02329" "PHIP_000063" "g.79787783C>T" "" "" "" "PHIP(NM_017934.7):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000821043" "0" "90" "6" "79671432" "79671435" "del" "0" "00006" "PHIP_000064" "g.79671432_79671435del" "" "{PMID:Kritioti 2021:34324503}" "" "3631_3634delCAAA" "ACMG PVS1, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.78961715_78961718del" "" "pathogenic (dominant)" "ACMG" "0000823562" "0" "50" "6" "79650804" "79650804" "subst" "0" "02494" "PHIP_000065" "g.79650804G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" "" "0000860524" "0" "50" "6" "79664523" "79664523" "subst" "2.38347E-5" "01943" "PHIP_000066" "g.79664523A>T" "" "" "" "PHIP(NM_017934.6):c.4053+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860526" "0" "30" "6" "79752710" "79752710" "subst" "8.31546E-6" "01943" "PHIP_000069" "g.79752710C>G" "" "" "" "PHIP(NM_017934.6):c.450G>C (p.L150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869086" "0" "70" "6" "79787631" "79787631" "subst" "0" "00006" "PHIP_000070" "g.79787631C>T" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PM2, PS2" "De novo" "" "" "0" "" "" "g.79077914C>T" "" "likely pathogenic (recessive)" "" "0000870975" "0" "90" "6" "79735240" "79735244" "del" "0" "01164" "PHIP_000018" "g.79735240_79735244del" "" "" "" "" "ACMG: PVS1, PS4_SUP, PM2_SUP (Since the 1st week of life in foster family)" "Germline" "?" "" "0" "" "" "g.79025523_79025527del" "VCV000872609.11" "pathogenic (dominant)" "ACMG" "0000877284" "0" "70" "6" "79707171" "79707171" "subst" "0" "01164" "PHIP_000071" "g.79707171G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000887475" "0" "50" "6" "79679572" "79679572" "subst" "4.14924E-6" "02325" "PHIP_000072" "g.79679572T>C" "" "" "" "PHIP(NM_017934.7):c.3185A>G (p.K1062R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912589" "0" "70" "6" "79713446" "79713446" "subst" "0" "02327" "PHIP_000073" "g.79713446C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912590" "0" "30" "6" "79727285" "79727285" "subst" "2.85532E-5" "02325" "PHIP_000074" "g.79727285G>A" "" "" "" "PHIP(NM_017934.7):c.1010C>T (p.A337V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912591" "0" "50" "6" "79770421" "79770421" "subst" "0" "02327" "PHIP_000075" "g.79770421C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912592" "0" "50" "6" "79787589" "79787589" "subst" "0" "02327" "PHIP_000076" "g.79787589A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912593" "0" "70" "6" "79787624" "79787624" "subst" "0" "02327" "PHIP_000077" "g.79787624T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000922162" "0" "70" "6" "79671432" "79671435" "del" "0" "01164" "PHIP_000064" "g.79671432_79671435del" "" "" "" "" "ACMG: PVS1, PS2, PM2_SUP, confimred de novo in trio exome" "De novo" "-" "" "0" "" "" "g.78961715_78961718del" "VCV000984976.1" "pathogenic (dominant)" "ACMG" "0000924579" "0" "30" "6" "79711647" "79711647" "subst" "8.55021E-5" "02325" "PHIP_000078" "g.79711647T>G" "" "" "" "PHIP(NM_017934.7):c.1848A>C (p.(Gln616His), p.Q616H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929246" "0" "50" "6" "79725402" "79725402" "subst" "0" "02325" "PHIP_000038" "g.79725402T>C" "" "" "" "PHIP(NM_017934.7):c.1334A>G (p.N445S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929247" "0" "70" "6" "79752681" "79752681" "dup" "0" "02327" "PHIP_000079" "g.79752681dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948779" "0" "90" "6" "79672849" "79672849" "del" "0" "02325" "PHIP_000080" "g.79672849del" "" "" "" "PHIP(NM_017934.7):c.3500delG (p.R1167Kfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959658" "0" "50" "6" "79725451" "79725451" "subst" "0" "01164" "PHIP_000081" "g.79725451T>C" "" "" "" "" "ACMG: PS2_SUP, PS4_SUP, PM2_SUP, PP2; confirmed de novo (trio-exome, MGZ)" "De novo" "?" "" "" "" "" "g.79015734T>C" "VCV001319725.3" "VUS (!)" "ACMG" "0000964272" "0" "30" "6" "79656529" "79656529" "subst" "0" "02330" "PHIP_000082" "g.79656529T>C" "" "" "" "PHIP(NM_017934.7):c.4269A>G (p.S1423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964273" "0" "30" "6" "79668328" "79668328" "subst" "0" "02330" "PHIP_000083" "g.79668328C>T" "" "" "" "PHIP(NM_017934.7):c.3657-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964274" "0" "30" "6" "79672878" "79672878" "subst" "2.05302E-5" "02330" "PHIP_000084" "g.79672878A>G" "" "" "" "PHIP(NM_017934.7):c.3471T>C (p.G1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964275" "0" "30" "6" "79700648" "79700648" "subst" "0.000522219" "02330" "PHIP_000085" "g.79700648C>T" "" "" "" "PHIP(NM_017934.7):c.2256G>A (p.R752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964277" "0" "30" "6" "79724781" "79724781" "subst" "1.22645E-5" "02330" "PHIP_000086" "g.79724781G>A" "" "" "" "PHIP(NM_017934.7):c.1524+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964278" "0" "30" "6" "79735354" "79735354" "subst" "0.000598635" "02330" "PHIP_000087" "g.79735354G>A" "" "" "" "PHIP(NM_017934.7):c.823-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964279" "0" "30" "6" "79735759" "79735759" "subst" "0.00105647" "02330" "PHIP_000011" "g.79735759T>C" "" "" "" "PHIP(NM_017934.6):c.723A>G (p.A241=), PHIP(NM_017934.7):c.723A>G (p.A241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964280" "0" "30" "6" "79770518" "79770518" "subst" "4.0796E-6" "02330" "PHIP_000088" "g.79770518G>A" "" "" "" "PHIP(NM_017934.7):c.207C>T (p.H69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964281" "0" "30" "6" "79787399" "79787399" "subst" "0" "02330" "PHIP_000089" "g.79787399G>C" "" "" "" "PHIP(NM_017934.7):c.129+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964282" "0" "30" "6" "79787402" "79787402" "subst" "0" "02330" "PHIP_000090" "g.79787402C>G" "" "" "" "PHIP(NM_017934.7):c.129+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977374" "0" "10" "6" "79656610" "79656610" "del" "0" "01804" "PHIP_000001" "g.79656610del" "" "" "" "PHIP(NM_017934.6):c.4207-10delT, PHIP(NM_017934.7):c.4207-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977375" "0" "30" "6" "79656610" "79656610" "dup" "0" "02330" "PHIP_000091" "g.79656610dup" "" "" "" "PHIP(NM_017934.7):c.4207-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977376" "0" "30" "6" "79707324" "79707324" "subst" "4.11485E-6" "01804" "PHIP_000092" "g.79707324A>G" "" "" "" "PHIP(NM_017934.7):c.2018-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977377" "0" "30" "6" "79711647" "79711647" "subst" "8.55021E-5" "01804" "PHIP_000078" "g.79711647T>G" "" "" "" "PHIP(NM_017934.7):c.1848A>C (p.(Gln616His), p.Q616H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995910" "0" "30" "6" "79650613" "79650613" "subst" "4.47267E-5" "01804" "PHIP_000093" "g.79650613C>G" "" "" "" "PHIP(NM_017934.5):c.5263G>C (p.(Glu1755Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995911" "0" "30" "6" "79650916" "79650916" "subst" "2.43827E-5" "01804" "PHIP_000094" "g.79650916T>C" "" "" "" "PHIP(NM_017934.5):c.4960A>G (p.(Ile1654Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995912" "0" "30" "6" "79650933" "79650933" "subst" "1.21918E-5" "01804" "PHIP_000095" "g.79650933T>C" "" "" "" "PHIP(NM_017934.5):c.4943A>G (p.(Asn1648Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995913" "0" "50" "6" "79656510" "79656510" "subst" "8.78248E-6" "01804" "PHIP_000096" "g.79656510G>A" "" "" "" "PHIP(NM_017934.5):c.4288C>T (p.(Arg1430Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995914" "0" "30" "6" "79664635" "79664635" "subst" "1.33009E-5" "01804" "PHIP_000097" "g.79664635C>T" "" "" "" "PHIP(NM_017934.5):c.3949G>A (p.(Asp1317Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995915" "0" "30" "6" "79664677" "79664677" "subst" "0" "01804" "PHIP_000098" "g.79664677G>A" "" "" "" "PHIP(NM_017934.5):c.3907C>T (p.(His1303Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995916" "0" "30" "6" "79668221" "79668221" "subst" "3.25762E-5" "02330" "PHIP_000099" "g.79668221G>A" "" "" "" "PHIP(NM_017934.7):c.3753C>T (p.F1251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995917" "0" "70" "6" "79671528" "79671528" "subst" "0" "01804" "PHIP_000100" "g.79671528C>T" "" "" "" "PHIP(NM_017934.5):c.3536-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995918" "0" "30" "6" "79680570" "79680570" "subst" "0.000250849" "02330" "PHIP_000101" "g.79680570G>T" "" "" "" "PHIP(NM_017934.7):c.2925C>A (p.V975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995919" "0" "30" "6" "79707273" "79707273" "subst" "2.03313E-5" "01804" "PHIP_000102" "g.79707273C>T" "" "" "" "PHIP(NM_017934.5):c.2059G>A (p.(Val687Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995920" "0" "30" "6" "79707300" "79707300" "subst" "4.07987E-6" "01804" "PHIP_000103" "g.79707300T>C" "" "" "" "PHIP(NM_017934.5):c.2032A>G (p.(Thr678Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995921" "0" "50" "6" "79727195" "79727195" "subst" "0" "01804" "PHIP_000104" "g.79727195C>T" "" "" "" "PHIP(NM_017934.5):c.1095+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995922" "0" "30" "6" "79752554" "79752554" "subst" "0" "01804" "PHIP_000105" "g.79752554A>G" "" "" "" "PHIP(NM_017934.5):c.600+6T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995923" "0" "30" "6" "79752720" "79752720" "subst" "2.55643E-5" "01804" "PHIP_000106" "g.79752720G>A" "" "" "" "PHIP(NM_017934.5):c.440C>T (p.(Ala147Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995924" "0" "30" "6" "79770218" "79770218" "subst" "0" "01804" "PHIP_000107" "g.79770218T>G" "" "" "" "PHIP(NM_017934.5):c.416A>C (p.(Asn139Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995925" "0" "30" "6" "79770220" "79770220" "subst" "0.000105864" "02330" "PHIP_000108" "g.79770220A>T" "" "" "" "PHIP(NM_017934.7):c.414T>A (p.V138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995926" "0" "90" "6" "79770427" "79770428" "del" "0" "01804" "PHIP_000109" "g.79770427_79770428del" "" "" "" "PHIP(NM_017934.5):c.298_299delTT (p.(Leu100fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995927" "0" "70" "6" "79787416" "79787416" "subst" "0" "01804" "PHIP_000110" "g.79787416C>T" "" "" "" "PHIP(NM_017934.5):c.129+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014243" "0" "30" "6" "79655832" "79655832" "subst" "3.25129E-5" "02325" "PHIP_000111" "g.79655832T>C" "" "" "" "PHIP(NM_017934.7):c.4516A>G (p.T1506A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014244" "0" "30" "6" "79657421" "79657421" "subst" "8.13603E-6" "02330" "PHIP_000112" "g.79657421A>G" "" "" "" "PHIP(NM_017934.7):c.4125T>C (p.Y1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014245" "0" "50" "6" "79671539" "79671539" "subst" "0" "02330" "PHIP_000113" "g.79671539A>C" "" "" "" "PHIP(NM_017934.7):c.3536-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014246" "0" "50" "6" "79735707" "79735707" "subst" "4.06884E-6" "02330" "PHIP_000114" "g.79735707G>A" "" "" "" "PHIP(NM_017934.7):c.775C>T (p.P259S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014247" "0" "30" "6" "79770392" "79770392" "subst" "4.12184E-6" "02330" "PHIP_000115" "g.79770392T>C" "" "" "" "PHIP(NM_017934.7):c.333A>G (p.T111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017753" "0" "70" "6" "79735266" "79735266" "subst" "0" "03779" "PHIP_000116" "g.79735266C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001022132" "0" "70" "6" "79787637" "79787637" "subst" "0" "04796" "PHIP_000059" "g.79787637G>T" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.79077920G>T" "" "likely pathogenic" "" "0001022210" "0" "70" "6" "79727195" "79727195" "subst" "0" "04796" "PHIP_000117" "g.79727195C>G" "" "" "" "" "effect on RNA exon skipping" "Germline/De novo (untested)" "" "" "0" "" "" "g.79017478C>G" "" "likely pathogenic" "" "0001025283" "0" "30" "6" "79707125" "79707125" "subst" "0.000159348" "02325" "PHIP_000118" "g.79707125C>T" "" "" "" "PHIP(NM_017934.7):c.2201+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030177" "0" "70" "6" "79650861" "79650861" "del" "0" "03779" "PHIP_000119" "g.79650861del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001035931" "0" "30" "6" "79655853" "79655853" "subst" "8.12532E-6" "01804" "PHIP_000120" "g.79655853C>G" "" "" "" "PHIP(NM_017934.7):c.4495G>C (p.(Glu1499Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035932" "0" "70" "6" "79664637" "79664637" "dup" "0" "01804" "PHIP_000067" "g.79664637dup" "" "" "" "PHIP(NM_017934.7):c.3947dup (p.(Tyr1316*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035933" "0" "30" "6" "79680915" "79680915" "subst" "0" "01804" "PHIP_000121" "g.79680915T>C" "" "" "" "PHIP(NM_017934.7):c.2890-310A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035934" "0" "30" "6" "79695110" "79695110" "subst" "1.62525E-5" "02330" "PHIP_000122" "g.79695110G>A" "" "" "" "PHIP(NM_017934.7):c.2496C>T (p.S832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035935" "0" "70" "6" "79727251" "79727251" "subst" "0" "01804" "PHIP_000123" "g.79727251A>C" "" "" "" "PHIP(NM_017934.7):c.1044T>G (p.(Tyr348*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001048378" "0" "70" "6" "79707175" "79707175" "subst" "0" "03544" "PHIP_000124" "g.79707175C>T" "" "" "" "" "" "Germline" "-" "" "0" "" "" "g.78997458C>T" "" "likely pathogenic" "ACMG" "0001049430" "0" "70" "6" "79752598" "79752598" "subst" "0" "03544" "PHIP_000125" "g.79752598A>G" "" "" "" "" "" "De novo" "-" "rs1772296823" "0" "" "" "g.79042881A>G" "{CV:981012}" "likely pathogenic" "ACMG" "0001052424" "0" "50" "6" "79707267" "79707267" "subst" "0" "01804" "PHIP_000126" "g.79707267G>C" "" "" "" "PHIP(NM_017934.7):c.2065C>G (p.(Leu689Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064576" "0" "50" "6" "79655900" "79655900" "subst" "0" "02325" "PHIP_000127" "g.79655900C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064577" "0" "50" "6" "79664656" "79664656" "subst" "1.42326E-5" "02325" "PHIP_000013" "g.79664656G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064578" "0" "70" "6" "79711819" "79711819" "subst" "0" "02325" "PHIP_000128" "g.79711819T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001064579" "0" "50" "6" "79713564" "79713564" "subst" "0" "02325" "PHIP_000129" "g.79713564T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064580" "0" "70" "6" "79787745" "79787745" "subst" "0" "02325" "PHIP_000130" "g.79787745C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001064581" "0" "70" "6" "79787746" "79787746" "subst" "0" "02325" "PHIP_000131" "g.79787746C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001070319" "21" "70" "6" "79657337" "79657337" "subst" "0" "00006" "PHIP_000132" "g.79657337T>C" "" "{PMID:Boukas 2026:41795468}" "" "" "" "De novo" "" "" "0" "" "" "g.78947620T>C" "" "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 PHIP ## Count = 133 "{{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}}" "0000248584" "00016096" "10" "3180" "0" "3180" "0" "c.3180T>C" "r.(?)" "p.(Asp1060=)" "" "0000248943" "00016096" "10" "1988" "0" "1988" "0" "c.1988=" "r.(=)" "p.(Gly663=)" "" "0000249600" "00016096" "70" "3161" "0" "3161" "0" "c.3161del" "r.(?)" "p.(Leu1054Ter)" "" "0000250551" "00016096" "50" "4109" "0" "4109" "0" "c.4109T>C" "r.(?)" "p.(Leu1370Ser)" "" "0000253805" "00016096" "10" "4207" "-10" "4207" "-10" "c.4207-10del" "r.(=)" "p.(=)" "" "0000296941" "00016096" "50" "2304" "0" "2304" "0" "c.2304A>G" "r.(?)" "p.(Ile768Met)" "" "0000296942" "00016096" "10" "4155" "0" "4155" "0" "c.4155C>T" "r.(?)" "p.(Val1385=)" "" "0000305540" "00016096" "30" "723" "0" "723" "0" "c.723A>G" "r.(?)" "p.(Ala241=)" "" "0000331101" "00016096" "50" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Ser276Leu)" "" "0000341843" "00016096" "30" "3928" "0" "3928" "0" "c.3928C>T" "r.(?)" "p.(Arg1310Cys)" "" "0000341872" "00016096" "70" "4060" "0" "4060" "0" "c.4060A>T" "r.(?)" "p.(Arg1354Ter)" "" "0000343876" "00016096" "50" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(Asp1097Gly)" "" "0000344353" "00016096" "70" "976" "0" "976" "0" "c.976T>C" "r.(?)" "p.(Cys326Arg)" "" "0000344516" "00016096" "70" "3571" "0" "3571" "0" "c.3571C>T" "r.(?)" "p.(Gln1191Ter)" "" "0000344726" "00016096" "70" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Gln274Ter)" "" "0000407942" "00016096" "00" "3447" "0" "3447" "0" "c.3447T>G" "r.(?)" "p.(Tyr1149*)" "" "0000438177" "00016096" "90" "1507" "0" "1507" "0" "c.1507C>T" "r.(?)" "p.(Arg503*)" "" "0000438717" "00016096" "70" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Ser287Tyr)" "" "0000529868" "00016096" "90" "4528" "0" "4528" "0" "c.4528C>T" "r.(?)" "p.(Arg1510Ter)" "" "0000529869" "00016096" "90" "4513" "0" "4513" "0" "c.4513C>T" "r.(?)" "p.(Arg1505Ter)" "" "0000529871" "00016096" "70" "4431" "0" "4432" "0" "c.4431_4432del" "r.(?)" "p.(Phe1478LeufsTer19)" "" "0000529872" "00016096" "70" "3500" "0" "3500" "0" "c.3500G>T" "r.(?)" "p.(Arg1167Ile)" "" "0000529873" "00016096" "70" "3328" "0" "3328" "0" "c.3328G>T" "r.(?)" "p.(Gly1110Ter)" "" "0000529874" "00016096" "90" "3071" "0" "3071" "0" "c.3071del" "r.(?)" "p.(Ala1024ValfsTer3)" "" "0000529875" "00016096" "50" "3031" "0" "3031" "0" "c.3031T>A" "r.(?)" "p.(Tyr1011Asn)" "" "0000529876" "00016096" "90" "2922" "0" "2922" "0" "c.2922T>A" "r.(?)" "p.(Tyr974Ter)" "" "0000529877" "00016096" "50" "2903" "0" "2903" "0" "c.2903G>C" "r.(?)" "p.(Arg968Pro)" "" "0000529879" "00016096" "50" "2888" "0" "2888" "0" "c.2888A>G" "r.(?)" "p.(Glu963Gly)" "" "0000529881" "00016096" "70" "2744" "0" "2747" "0" "c.2744_2747del" "r.(?)" "p.(Lys915SerfsTer15)" "" "0000529886" "00016096" "50" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Trp399Ter)" "" "0000529887" "00016096" "90" "1192" "0" "1192" "0" "c.1192G>T" "r.(?)" "p.(Glu398Ter)" "" "0000529888" "00016096" "50" "901" "0" "901" "0" "c.901G>T" "r.(?)" "p.(Asp301Tyr)" "" "0000529889" "00016096" "50" "540" "0" "541" "0" "c.540_541insA" "r.(?)" "p.(Gly181ArgfsTer12)" "" "0000610530" "00016096" "70" "4163" "0" "4163" "0" "c.4163T>C" "r.(?)" "p.(Ile1388Thr)" "" "0000610531" "00016096" "70" "2219" "0" "2220" "0" "c.2219_2220dup" "r.(?)" "p.(Thr741GlufsTer9)" "" "0000610532" "00016096" "30" "2196" "0" "2196" "0" "c.2196A>G" "r.(?)" "p.(Val732=)" "" "0000610533" "00016096" "50" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Trp)" "" "0000621772" "00016096" "30" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Lys521=)" "" "0000621773" "00016096" "70" "822" "2" "822" "2" "c.822+2T>C" "r.spl?" "p.?" "" "0000655667" "00016096" "30" "4469" "0" "4469" "0" "c.4469A>G" "r.(?)" "p.(Asn1490Ser)" "" "0000655668" "00016096" "70" "3782" "2" "3782" "2" "c.3782+2dup" "r.spl?" "p.?" "" "0000677894" "00016096" "50" "1389" "3" "1389" "3" "c.1389+3G>T" "r.spl?" "p.?" "" "0000683279" "00016096" "70" "1050" "0" "1050" "0" "c.1050del" "r.(?)" "p.(Phe350Leufs*32)" "" "0000683568" "00016096" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193*)" "" "0000721110" "00016096" "70" "4447" "0" "4447" "0" "c.4447C>T" "r.(?)" "p.(Arg1483*)" "" "0000721111" "00016096" "50" "3541" "0" "3541" "0" "c.3541G>T" "r.(?)" "p.(Ala1181Ser)" "" "0000721112" "00016096" "50" "1863" "0" "1863" "0" "c.1863G>A" "r.(?)" "p.(Met621Ile)" "" "0000721113" "00016096" "70" "1390" "-2" "1390" "-2" "c.1390-2A>G" "r.spl?" "p.?" "" "0000721114" "00016096" "50" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Asn445Ser)" "" "0000721115" "00016096" "30" "1095" "3" "1095" "3" "c.1095+3A>G" "r.spl?" "p.?" "" "0000721116" "00016096" "50" "259" "0" "259" "0" "c.259G>C" "r.(?)" "p.(Glu87Gln)" "" "0000721117" "00016096" "70" "41" "-7" "41" "-7" "c.41-7C>A" "r.(=)" "p.(=)" "" "0000765197" "00016096" "90" "4402" "0" "4402" "0" "c.4402C>T" "r.(?)" "p.(Gln1468Ter)" "" "0000796075" "00016096" "70" "4528" "0" "4528" "0" "c.4528C>T" "r.(?)" "p.(Arg1510*)" "" "0000802743" "00016096" "30" "5112" "0" "5112" "0" "c.5112T>G" "r.(?)" "p.(Asp1704Glu)" "" "0000802744" "00016096" "70" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Leu155Pro)" "" "0000802745" "00016096" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000821043" "00016096" "90" "3631" "0" "3634" "0" "c.3631_3634del" "r.(?)" "p.(Gln1211AspfsTer13)" "31" "0000823562" "00016096" "50" "5072" "0" "5072" "0" "c.5072C>T" "r.(?)" "p.(Thr1691Ile)" "" "0000860524" "00016096" "50" "4053" "8" "4053" "8" "c.4053+8T>A" "r.(=)" "p.(=)" "" "0000860526" "00016096" "30" "450" "0" "450" "0" "c.450G>C" "r.(?)" "p.(Leu150=)" "" "0000869086" "00016096" "70" "41" "-1" "41" "-1" "c.41-1G>A" "r.spl" "p.?" "" "0000870975" "00016096" "90" "919" "0" "923" "0" "c.919_923del" "r.(?)" "p.(Ile307Profs*22)" "9" "0000877284" "00016096" "70" "2161" "0" "2161" "0" "c.2161C>T" "r.(?)" "p.(Arg721*)" "" "0000887475" "00016096" "50" "3185" "0" "3185" "0" "c.3185A>G" "r.(?)" "p.(Lys1062Arg)" "" "0000912589" "00016096" "70" "1653" "1" "1653" "1" "c.1653+1G>A" "r.spl?" "p.?" "" "0000912590" "00016096" "30" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ala337Val)" "" "0000912591" "00016096" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Gly102Arg)" "" "0000912592" "00016096" "50" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Cys28Arg)" "" "0000912593" "00016096" "70" "47" "0" "47" "0" "c.47A>G" "r.(?)" "p.(Tyr16Cys)" "" "0000922162" "00016096" "70" "3631" "0" "3634" "0" "c.3631_3634del" "r.(?)" "p.(Gln1211Aspfs*13)" "" "0000924579" "00016096" "30" "1848" "0" "1848" "0" "c.1848A>C" "r.(?)" "p.(Gln616His)" "" "0000929246" "00016096" "50" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(Asn445Ser)" "" "0000929247" "00016096" "70" "479" "0" "479" "0" "c.479dup" "r.(?)" "p.(Leu161Thrfs*2)" "" "0000948779" "00016096" "90" "3500" "0" "3500" "0" "c.3500del" "r.(?)" "p.(Arg1167Lysfs*6)" "" "0000959658" "00016096" "50" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Met429Val)" "" "0000964272" "00016096" "30" "4269" "0" "4269" "0" "c.4269A>G" "r.(?)" "p.(=)" "" "0000964273" "00016096" "30" "3657" "-11" "3657" "-11" "c.3657-11G>A" "r.(=)" "p.(=)" "" "0000964274" "00016096" "30" "3471" "0" "3471" "0" "c.3471T>C" "r.(?)" "p.(=)" "" "0000964275" "00016096" "30" "2256" "0" "2256" "0" "c.2256G>A" "r.(?)" "p.(=)" "" "0000964277" "00016096" "30" "1524" "18" "1524" "18" "c.1524+18C>T" "r.(=)" "p.(=)" "" "0000964278" "00016096" "30" "823" "-18" "823" "-18" "c.823-18C>T" "r.(=)" "p.(=)" "" "0000964279" "00016096" "30" "723" "0" "723" "0" "c.723A>G" "r.(?)" "p.(Ala241=)" "" "0000964280" "00016096" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(=)" "" "0000964281" "00016096" "30" "129" "18" "129" "18" "c.129+18C>G" "r.(=)" "p.(=)" "" "0000964282" "00016096" "30" "129" "15" "129" "15" "c.129+15G>C" "r.(=)" "p.(=)" "" "0000977374" "00016096" "10" "4207" "-10" "4207" "-10" "c.4207-10del" "r.(=)" "p.(=)" "" "0000977375" "00016096" "30" "4207" "-10" "4207" "-10" "c.4207-10dup" "r.(=)" "p.(=)" "" "0000977376" "00016096" "30" "2018" "-10" "2018" "-10" "c.2018-10T>C" "r.(=)" "p.(=)" "" "0000977377" "00016096" "30" "1848" "0" "1848" "0" "c.1848A>C" "r.(?)" "p.(Gln616His)" "" "0000995910" "00016096" "30" "5263" "0" "5263" "0" "c.5263G>C" "r.(?)" "p.(Glu1755Gln)" "" "0000995911" "00016096" "30" "4960" "0" "4960" "0" "c.4960A>G" "r.(?)" "p.(Ile1654Val)" "" "0000995912" "00016096" "30" "4943" "0" "4943" "0" "c.4943A>G" "r.(?)" "p.(Asn1648Ser)" "" "0000995913" "00016096" "50" "4288" "0" "4288" "0" "c.4288C>T" "r.(?)" "p.(Arg1430Cys)" "" "0000995914" "00016096" "30" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Asp1317Asn)" "" "0000995915" "00016096" "30" "3907" "0" "3907" "0" "c.3907C>T" "r.(?)" "p.(His1303Tyr)" "" "0000995916" "00016096" "30" "3753" "0" "3753" "0" "c.3753C>T" "r.(?)" "p.(=)" "" "0000995917" "00016096" "70" "3536" "-1" "3536" "-1" "c.3536-1G>A" "r.spl?" "p.?" "" "0000995918" "00016096" "30" "2925" "0" "2925" "0" "c.2925C>A" "r.(?)" "p.(=)" "" "0000995919" "00016096" "30" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Val687Ile)" "" "0000995920" "00016096" "30" "2032" "0" "2032" "0" "c.2032A>G" "r.(?)" "p.(Thr678Ala)" "" "0000995921" "00016096" "50" "1095" "5" "1095" "5" "c.1095+5G>A" "r.spl?" "p.?" "" "0000995922" "00016096" "30" "600" "6" "600" "6" "c.600+6T>C" "r.(=)" "p.(=)" "" "0000995923" "00016096" "30" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ala147Val)" "" "0000995924" "00016096" "30" "416" "0" "416" "0" "c.416A>C" "r.(?)" "p.(Asn139Thr)" "" "0000995925" "00016096" "30" "414" "0" "414" "0" "c.414T>A" "r.(?)" "p.(=)" "" "0000995926" "00016096" "90" "298" "0" "299" "0" "c.298_299del" "r.(?)" "p.(Leu100Ilefs*13)" "" "0000995927" "00016096" "70" "129" "1" "129" "1" "c.129+1G>A" "r.spl?" "p.?" "" "0001014243" "00016096" "30" "4516" "0" "4516" "0" "c.4516A>G" "r.(?)" "p.(Thr1506Ala)" "" "0001014244" "00016096" "30" "4125" "0" "4125" "0" "c.4125T>C" "r.(?)" "p.(=)" "" "0001014245" "00016096" "50" "3536" "-12" "3536" "-12" "c.3536-12T>G" "r.(=)" "p.(=)" "" "0001014246" "00016096" "50" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Pro259Ser)" "" "0001014247" "00016096" "30" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(=)" "" "0001017753" "00016096" "70" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Trp298Ter)" "" "0001022132" "00016096" "70" "41" "-7" "41" "-7" "c.41-7C>A" "r.[40_41ins41-5_41-1,=]" "p.[Glu14AlafsTer24,=]" "1i" "0001022210" "00016096" "70" "1095" "5" "1095" "5" "c.1095+5G>C" "r.[995_1095del,=]" "p.[Gly333GlnfsTer3,=]" "11i" "0001025283" "00016096" "30" "2201" "6" "2201" "6" "c.2201+6G>A" "r.(=)" "p.(=)" "" "0001030177" "00016096" "70" "5016" "0" "5016" "0" "c.5016del" "r.(?)" "p.(Asp1673IlefsTer2)" "" "0001035931" "00016096" "30" "4495" "0" "4495" "0" "c.4495G>C" "r.(?)" "p.(Glu1499Gln)" "" "0001035932" "00016096" "70" "3947" "0" "3947" "0" "c.3947dup" "r.(?)" "p.(Tyr1316*)" "" "0001035933" "00016096" "30" "2890" "-310" "2890" "-310" "c.2890-310A>G" "r.(=)" "p.(=)" "" "0001035934" "00016096" "30" "2496" "0" "2496" "0" "c.2496C>T" "r.(?)" "p.(=)" "" "0001035935" "00016096" "70" "1044" "0" "1044" "0" "c.1044T>G" "r.(?)" "p.(Tyr348*)" "" "0001048378" "00016096" "70" "2157" "0" "2157" "0" "c.2157G>A" "r.(?)" "p.(Trp719Ter)" "19" "0001049430" "00016096" "70" "562" "0" "562" "0" "c.562T>C" "r.(?)" "p.(Cys188Arg)" "7" "0001052424" "00016096" "50" "2065" "0" "2065" "0" "c.2065C>G" "r.(?)" "p.(Leu689Val)" "" "0001064576" "00016096" "50" "4448" "0" "4448" "0" "c.4448G>A" "r.(?)" "p.(Arg1483Gln)" "" "0001064577" "00016096" "50" "3928" "0" "3928" "0" "c.3928C>T" "r.(?)" "p.(Arg1310Cys)" "" "0001064578" "00016096" "70" "1676" "0" "1676" "0" "c.1676A>G" "r.(?)" "p.(His559Arg)" "" "0001064579" "00016096" "50" "1536" "0" "1536" "0" "c.1536A>T" "r.(?)" "p.(Gln512His)" "" "0001064580" "00016096" "70" "40" "1" "40" "1" "c.40+1G>T" "r.spl?" "p.?" "" "0001064581" "00016096" "70" "40" "0" "40" "0" "c.40G>T" "r.(?)" "p.(Glu14*)" "" "0001070319" "00016096" "70" "4206" "3" "4206" "3" "c.4206+3A>G" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000184004" "0000407942" "0000208347" "0000438177" "0000208760" "0000438717" "0000308845" "0000683279" "0000309105" "0000683568" "0000364417" "0000765197" "0000382316" "0000796075" "0000391305" "0000821043" "0000392995" "0000823562" "0000411849" "0000869086" "0000413478" "0000870975" "0000417569" "0000877284" "0000435899" "0000922162" "0000449452" "0000959658" "0000462605" "0001022132" "0000462683" "0001022210" "0000468527" "0001048378" "0000469218" "0001049430" "0000475761" "0001070319"