### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLEKHG5) # 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}}" "PLEKHG5" "pleckstrin homology domain containing, family G (with RhoGef domain) member 5" "1" "p36.31" "unknown" "LRG_262" "UD_134408619466" "" "https://www.LOVD.nl/PLEKHG5" "" "1" "29105" "57449" "611101" "1" "1" "1" "1" "This database is one of the gene variant databases from the:
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. Variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/PLEKHG5_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2022-03-10 16:00:36" "00000" "2025-05-05 21:14:00" ## 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}}" "00016342" "PLEKHG5" "transcript variant 1" "004" "NM_020631.4" "" "NP_065682.2" "" "" "" "-152" "4492" "3021" "6551761" "6526152" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03007" "DSMA4" "atrophy, muscular, spinal, distal, autosomal recessive, type 4 (DSMA-4)" "AR" "611067" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03916" "CMTRIC" "Charcot-Marie-Tooth disease, recessive intermediate C (CMTRIC)" "AR" "615376" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PLEKHG5" "03007" "PLEKHG5" "03916" "PLEKHG5" "05113" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00289905" "" "" "" "94" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289906" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289908" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295243" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295745" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00374810" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "R-0612" "00399044" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P103" "00404900" "" "" "" "1" "" "00006" "{PMID:Beijer 2022:34897098}, {DOI:Beijer 2022:10.3233/JND-210716}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "India" "patient" "00404901" "" "" "" "5" "" "00006" "{PMID:Maystadt 2006:16728649}, {PMID:Maystadt 2007:17564964}" "2-generation family, 5 affected/6 healthy children age 25y-9y, unaffected heterozygous carrier parents" "F;M" "yes" "Mali" "" "0" "" "" "" "family" "00404902" "" "" "" "2" "" "00006" "{PMID:Azzedine 2013:23777631}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Portugal" "" "0" "" "" "" "Fam221Pat221.13" "00404903" "" "" "00404902" "1" "" "00006" "{PMID:Azzedine 2013:23777631}" "sister" "F" "yes" "Portugal" "" "0" "" "" "" "Fam221Pat221.17" "00404904" "" "" "" "4" "" "00006" "{PMID:Azzedine 2013:23777631}" "2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous carrier parents/relatives" "M" "" "Morocco" "" "0" "" "" "" "FamNP72Pat4" "00404905" "" "" "00404904" "1" "" "00006" "{PMID:Azzedine 2013:23777631}" "sister" "F" "" "Morocco" "" "0" "" "" "" "FamNP72Pat5" "00404906" "" "" "00404904" "1" "" "00006" "{PMID:Azzedine 2013:23777631}" "brother" "M" "yes" "Morocco" "" "0" "" "" "" "FamNP72Pat9" "00404907" "" "" "" "1" "" "00006" "{PMID:Kim 2013:23844677}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relative" "F" "no" "Korea" "" "0" "" "" "" "patient" "00404908" "" "" "" "1" "" "00006" "{PMID:Ozoguz 2015:25681989}" "" "M" "" "Turkey" "" "0" "" "" "" "PLEKHG5#1" "00404910" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Iran" "" "0" "" "" "" "Fam1Pat1" "00404911" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Iran" "" "0" "" "" "" "Fam2Pat2" "00404912" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Turkey" "" "0" "" "" "" "Fam3Pat3" "00404913" "" "" "" "3" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "F;M" "" "Turkey" "" "0" "" "" "" "Fam4Pat4/5/6" "00404914" "" "" "" "2" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Turkey" "" "0" "" "" "" "Fam5Pat7/8" "00404915" "" "" "" "2" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents" "F;M" "" "Turkey" "" "0" "" "" "" "Fam6Pat9/10" "00404916" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Syria" "" "0" "" "" "" "Fam7Pat11" "00404917" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "Fam8Pat12" "00404918" "" "" "" "1" "" "00006" "{PMID:Chen 2021:33220101}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "Fam9Pat13" "00404926" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "Fam8" "00404935" "" "" "" "1" "" "00006" "{PMID:Miao 2021:34236308}" "" "F" "" "China" "" "0" "" "" "" "patient" "00404936" "" "" "" "2" "" "00006" "{PMID:Villar-Quiles 2021:34244018}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "no" "Viet Nam" "" "0" "" "" "" "Fam1PatIII4/5" "00404937" "" "" "" "2" "" "00006" "{PMID:Villar-Quiles 2021:34244018}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Cote D\'Ivoire (Ivory Coast)" "" "0" "" "" "" "Fam2PatII4/6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00289905" "00198" "00289906" "00198" "00289908" "00198" "00295243" "00198" "00295745" "00198" "00374810" "00198" "00399044" "05618" "00404900" "05113" "00404901" "05113" "00404902" "05113" "00404903" "05113" "00404904" "05113" "00404905" "05113" "00404906" "05113" "00404907" "05113" "00404908" "04255" "00404910" "05113" "00404911" "05113" "00404912" "05113" "00404913" "05113" "00404914" "05113" "00404915" "05113" "00404916" "05113" "00404917" "05113" "00404918" "05113" "00404926" "05123" "00404935" "05113" "00404936" "05113" "00404937" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03007, 03916, 04255, 05113, 05123, 05618 ## Count = 25 "{{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}}" "0000223263" "00198" "00295745" "01164" "Unknown" "" "Skeletal muscle atrophy (HP:0003202)" "" "" "" "" "" "" "" "" "" "" "" "0000270020" "00198" "00374810" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000292132" "05618" "00399044" "00006" "Unknown" "" "serum CK normal; muscle biopsy neurogenic pattern" "00y-10y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000297459" "05113" "00404900" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., distal intermediate neuropathy, scapular winging; 16y-progressive lower limb weakness, altered gait, atrophy of limbs (distal more than proximal), pes cavus, hammer toes; 17y-difficulties in running and walking fast, pressure-induced sensory symptoms extremities" "16y" "" "progressive lower limb weakness" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297460" "05113" "00404901" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMTRIC" "lower motor neuron disease" "" "0000297461" "05113" "00404902" "00006" "Familial, autosomal recessive" "51y" "see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, abnormal walking only with simple canes, distal sensory loss, spine deformity, deep tendon areflexia" "07y" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297462" "05113" "00404903" "00006" "Familial, autosomal recessive" "42y" "see paper; ..., distal weakness, no distal muscle atrophy, no involvement of proximal muscles, pes cavus, normal walking, running and jumping impossible, distal sensory loss, spine deformity, lower extremities deep tendon areflexia" "20y" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297463" "05113" "00404904" "00006" "Familial, autosomal recessive" "43y" "see paper; ..., distal weakness, distal muscle atrophy, no involvement of proximal muscles, pes cavus, hammer toes, abnormal walking without help, distal sensory loss, no spine deformity, deep tendon areflexia" "28y" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297464" "05113" "00404905" "00006" "Familial, autosomal recessive" "53y" "see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, wheelchair-bound, distal sensory loss, no spine deformity, deep tendon areflexia" "44y" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297465" "05113" "00404906" "00006" "Familial, autosomal recessive" "47y" "see paper; ..., distal weakness, distal muscle atrophy, involvement of proximal muscles, pes cavus, hammer toes, abnormal walking only with simple canes, no spine deformity, deep tendon areflexia" "30y" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297466" "05113" "00404907" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297467" "04255" "00404908" "00006" "Familial, autosomal recessive" "" "lower motor neuron dominance" "" "" "" "" "" "" "" "" "CMTRIC" "amyotrophic lateral sclerosis" "" "0000297468" "05113" "00404910" "00006" "Familial, autosomal recessive" "" "mild sensory loss distal LL; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no clinical cortical involvement; moderately reduced motor nerve conduction velocity, preserved sensory nerve action potential; EMG chronic process with active denervation; MRI brain white matter changes; MRI lower limb moderate fatty infiltration" "19y" "" "proximal upper limb weakness" "" "" "" "" "" "CMTRIC" "predominant motor neuropathy" "" "0000297469" "05113" "00404911" "00006" "Familial, autosomal recessive" "" "no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; lumbar hyperlordosis; no repiratory dysfunction; no cardiac involvement; no cortical involvement; reduced combined motor action potential, preserved sensory nerve action potential; EMG chronic neurogenic changes; MRI brain normal; MRI lower limb severe atrophy, fatty infiltration" "8y" "" "proximal lower limb weakness" "" "" "" "" "" "CMTRIC" "spinal muscular atrophy" "" "0000297470" "05113" "00404912" "00006" "Familial, autosomal recessive" "" "no sensory loss; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; prolonged distal motor latencies and reduced combined motor action potentials; EMG chronic neurogenic changes; quadriceps neurogenic muscle atrophy;" "14y" "" "proximal lower limb weakness" "" "" "" "" "" "CMTRIC" "proximal and distal motor neuropathy" "" "0000297471" "05113" "00404913" "00006" "Familial, autosomal recessive" "" "sensory loss distal UL/LL; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; moderately reduced motor nerve conduction velocity, combined motor action potential; EMG chronic neurogenic changes;" "13y-25y" "" "proximal lower limb weakness" "" "" "" "" "" "CMTRIC" "predominant motor neuropathy" "" "0000297472" "05113" "00404914" "00006" "Familial, autosomal recessive" "" "no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor neuropathy, reduced combined motor action potentials; EMG chronic neurogenic changes;" "13y" "" "proximal lower limb weakness" "" "" "" "" "" "CMTRIC" "spinal muscular atrophy" "" "0000297473" "05113" "00404915" "00006" "Familial, autosomal recessive" "" "no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; lumbar hyperlordosis; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor neuropathy; EMG chronic neurogenic changes; quadriceps neurogenic muscle atrophy;" "13y-15y" "" "proximal upper and lower limb weakness" "" "" "" "" "" "CMTRIC" "spinal muscular atrophy" "" "0000297474" "05113" "00404916" "00006" "Familial, autosomal recessive" "" "no sensory loss; areflexia; muscle weakness proximal > distal; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; NCS normal; EMG chronic neurogenic changes;" "10y" "" "proximal upper limb and shoulder girdle weakness" "" "" "" "" "" "CMTRIC" "spinal muscular atrophy" "" "0000297475" "05113" "00404917" "00006" "Familial, autosomal recessive" "" "no sensory loss; areflexia; muscle weakness distal > proximal; no cranial nerve involvement; pes cavus, hammer toes, equino-cavo-varus; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor and sensory neuropathy; EMG neurogenic pattern; quadriceps neurogenic muscle atrophy;" "8y" "" "proximal lower limb weakness" "" "" "" "" "" "CMTRIC" "motor and sensory neuropathy" "" "0000297476" "05113" "00404918" "00006" "Familial, autosomal recessive" "" "moderate sensory loss distal UL/LL; areflexia; generalised muscle weakness; no cranial nerve involvement; no foot deformity; no spine deformity; no repiratory dysfunction; no cardiac involvement; no cortical involvement; motor and sensory neuropathy;" "16y" "" "proximal lower limb weakness" "" "" "" "" "" "CMTRIC" "motor and sensory neuropathy" "" "0000297484" "05123" "00404926" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CMTRIC" "spinal muscular atrophy" "" "0000297493" "05113" "00404935" "00006" "Familial, autosomal recessive" "" "see paper; ..., early childhood weakness and wasting all limbs starting; EMG neurogenic pattern; subclinical sensory neuropathy; hypomyelination, hypermyelination, infolding myelin membranes coiled into myelinated axo." "" "" "" "" "" "" "" "" "CMTRIC" "lower motor neuron disease" "" "0000297494" "05113" "00404936" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" "0000297495" "05113" "00404937" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMTRIC" "Charcot-Marie-Tooth disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000291073" "00289905" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291074" "00289906" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291076" "00289908" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296411" "00295243" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296918" "00295745" "1" "01164" "01164" "2020-03-26 12:29:56" "" "" "SEQ-NG-S" "DNA" "" "" "0000376004" "00374810" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000400289" "00399044" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000406139" "00404900" "1" "00006" "00006" "2022-03-10 16:13:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406140" "00404901" "1" "00006" "00006" "2022-03-10 16:24:13" "" "" "SEQ" "DNA" "" "" "0000406141" "00404902" "1" "00006" "00006" "2022-03-10 16:43:56" "" "" "SEQ" "DNA" "" "" "0000406142" "00404903" "1" "00006" "00006" "2022-03-10 16:49:57" "" "" "SEQ" "DNA" "" "" "0000406143" "00404904" "1" "00006" "00006" "2022-03-10 16:54:40" "" "" "SEQ" "DNA" "" "" "0000406144" "00404905" "1" "00006" "00006" "2022-03-10 16:58:33" "" "" "SEQ" "DNA" "" "" "0000406145" "00404906" "1" "00006" "00006" "2022-03-10 17:02:12" "" "" "SEQ" "DNA" "" "" "0000406146" "00404907" "1" "00006" "00006" "2022-03-10 17:07:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406147" "00404908" "1" "00006" "00006" "2022-03-10 17:19:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406148" "00404910" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406149" "00404911" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406150" "00404912" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406151" "00404913" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406152" "00404914" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406153" "00404915" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406154" "00404916" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406155" "00404917" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406156" "00404918" "1" "00006" "00006" "2022-03-10 18:10:34" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000406164" "00404926" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000406173" "00404935" "1" "00006" "00006" "2022-03-10 21:30:20" "" "" "SEQ-NG" "DNA" "" "" "0000406174" "00404936" "1" "00006" "00006" "2022-03-10 21:45:55" "" "" "SEQ" "DNA" "" "gene panel" "0000406175" "00404937" "1" "00006" "00006" "2022-03-10 21:56:50" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000376004" "PLEKHG5" "0000406139" "PLEKHG5" "0000406140" "PLEKHG5" "0000406141" "PLEKHG5" "0000406142" "PLEKHG5" "0000406143" "PLEKHG5" "0000406144" "PLEKHG5" "0000406145" "PLEKHG5" "0000406147" "PLEKHG5" "0000406164" "PLEKHG5" "0000406174" "PLEKHG5" "0000406175" "PLEKHG5" ## 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 = 160 "{{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}}" "0000245459" "0" "10" "1" "6529443" "6529443" "subst" "0.161161" "02330" "PLEKHG5_000012" "g.6529443A>G" "" "" "" "PLEKHG5(NM_198681.4):c.2001T>C (p.S667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469383A>G" "" "benign" "" "0000245465" "0" "10" "1" "6545390" "6545390" "subst" "0.121065" "02330" "PLEKHG5_000034" "g.6545390A>T" "" "" "" "PLEKHG5(NM_001265593.1):c.114T>A (p.D38E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6485330A>T" "" "benign" "" "0000245520" "0" "10" "1" "6527333" "6527333" "subst" "0" "02330" "PLEKHG5_000003" "g.6527333A>G" "" "" "" "PLEKHG5(NM_198681.4):c.*290T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6467273A>G" "" "benign" "" "0000245521" "0" "10" "1" "6530156" "6530156" "subst" "0" "02330" "PLEKHG5_000017" "g.6530156A>G" "" "" "" "PLEKHG5(NM_198681.4):c.1800+140T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6470096A>G" "" "benign" "" "0000245522" "0" "10" "1" "6557009" "6557009" "subst" "0.169547" "02330" "PLEKHG5_000054" "g.6557009A>C" "" "" "" "PLEKHG5(NM_198681.4):c.-164-380T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6496949A>C" "" "benign" "" "0000245565" "0" "50" "1" "6530387" "6530387" "subst" "0" "02330" "PLEKHG5_000019" "g.6530387A>G" "" "" "" "PLEKHG5(NM_198681.4):c.1709T>C (p.L570S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6470327A>G" "" "VUS" "" "0000293927" "0" "10" "1" "6579843" "6579843" "subst" "0" "02330" "NOL9_000010" "g.6579843C>T" "" "" "" "PLEKHG5(NM_198681.4):c.-503G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6519783C>T" "" "benign" "" "0000293928" "0" "10" "1" "6545509" "6545509" "subst" "0" "02330" "PLEKHG5_000035" "g.6545509C>T" "" "" "" "PLEKHG5(NM_001265593.1):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6485449C>T" "" "benign" "" "0000293929" "0" "10" "1" "6579653" "6579653" "subst" "0" "02330" "NOL9_000009" "g.6579653G>C" "" "" "" "PLEKHG5(NM_198681.4):c.-313C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6519593G>C" "" "benign" "" "0000293930" "0" "10" "1" "6526465" "6526465" "subst" "0" "02330" "PLEKHG5_000001" "g.6526465C>G" "" "" "" "PLEKHG5(NM_198681.4):c.*1158G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6466405C>G" "" "benign" "" "0000293931" "0" "10" "1" "6526926" "6526926" "subst" "0" "02330" "PLEKHG5_000002" "g.6526926G>A" "" "" "" "PLEKHG5(NM_198681.4):c.*697C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6466866G>A" "" "benign" "" "0000293932" "0" "50" "1" "6556585" "6556585" "subst" "0.00132203" "02330" "PLEKHG5_000036" "g.6556585G>A" "" "" "" "PLEKHG5(NM_198681.3):c.112C>T (p.P38S), PLEKHG5(NM_198681.4):c.-120C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6496525G>A" "" "VUS" "" "0000293933" "0" "50" "1" "6532673" "6532673" "subst" "0.00113401" "02330" "PLEKHG5_000026" "g.6532673G>A" "" "" "" "PLEKHG5(NM_198681.3):c.1225C>T (p.R409W), PLEKHG5(NM_198681.4):c.994C>T (p.R332W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6472613G>A" "" "VUS" "" "0000293934" "0" "10" "1" "6531650" "6531650" "subst" "0.0584021" "02330" "PLEKHG5_000025" "g.6531650C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1179G>A (p.L393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6471590C>T" "" "benign" "" "0000293935" "0" "30" "1" "6531593" "6531593" "subst" "0.000536179" "02330" "PLEKHG5_000024" "g.6531593C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1236G>A (p.T412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6471533C>T" "" "likely benign" "" "0000293936" "0" "10" "1" "6531589" "6531589" "subst" "0.0493822" "02330" "PLEKHG5_000023" "g.6531589C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1240G>A (p.A414T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6471529C>T" "" "benign" "" "0000293937" "0" "10" "1" "6531575" "6531575" "subst" "0.00450806" "02330" "PLEKHG5_000022" "g.6531575G>C" "" "" "" "PLEKHG5(NM_198681.3):c.1485C>G (p.P495=), PLEKHG5(NM_198681.4):c.1254C>G (p.P418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6471515G>C" "" "benign" "" "0000293938" "0" "10" "1" "6531124" "6531124" "subst" "0.0570614" "02330" "PLEKHG5_000021" "g.6531124T>C" "" "" "" "PLEKHG5(NM_198681.4):c.1318A>G (p.M440V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6471064T>C" "" "benign" "" "0000293940" "0" "10" "1" "6530189" "6530189" "subst" "0" "02330" "PLEKHG5_000018" "g.6530189G>A" "" "" "" "PLEKHG5(NM_198681.4):c.1800+107C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6470129G>A" "" "benign" "" "0000293941" "0" "10" "1" "6530142" "6530142" "subst" "0" "02330" "PLEKHG5_000016" "g.6530142T>G" "" "" "" "PLEKHG5(NM_198681.4):c.1800+154A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6470082T>G" "" "benign" "" "0000293942" "0" "10" "1" "6529748" "6529748" "subst" "0.0732321" "02330" "PLEKHG5_000013" "g.6529748G>T" "" "" "" "PLEKHG5(NM_198681.4):c.1801-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469688G>T" "" "benign" "" "0000293943" "0" "10" "1" "6529807" "6529807" "subst" "0" "02330" "PLEKHG5_000014" "g.6529807C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1801-71G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469747C>T" "" "benign" "" "0000293944" "0" "10" "1" "6529823" "6529823" "subst" "0" "02330" "PLEKHG5_000015" "g.6529823G>C" "" "" "" "PLEKHG5(NM_198681.4):c.1801-87C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469763G>C" "" "benign" "" "0000293945" "0" "10" "1" "6529203" "6529208" "del" "0" "02330" "PLEKHG5_000010" "g.6529203_6529208del" "" "" "" "PLEKHG5(NM_198681.4):c.2163_2168delGGAGGA (p.E722_E723del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469143_6469148del" "" "benign" "" "0000293946" "0" "10" "1" "6529188" "6529188" "subst" "0" "02330" "PLEKHG5_000011" "g.6529188C>T" "" "" "" "PLEKHG5(NM_198681.4):c.2163G>A (p.E721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469128C>T" "" "benign" "" "0000293947" "0" "10" "1" "6529206" "6529208" "del" "0" "02330" "PLEKHG5_000009" "g.6529206_6529208del" "" "" "" "PLEKHG5(NM_198681.3):c.2397_2399delGGA (p.E800del), PLEKHG5(NM_198681.4):c.2166_2168delGGA (p.E723del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6469146_6469148del" "" "benign" "" "0000293948" "0" "10" "1" "6528589" "6528589" "subst" "0.0504317" "02330" "PLEKHG5_000008" "g.6528589C>T" "" "" "" "PLEKHG5(NM_198681.4):c.2307G>A (p.T769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6468529C>T" "" "benign" "" "0000293949" "0" "30" "1" "6528439" "6528439" "subst" "0.000166365" "02330" "PLEKHG5_000007" "g.6528439G>A" "" "" "" "PLEKHG5(NM_198681.4):c.2457C>T (p.Y819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6468379G>A" "" "likely benign" "" "0000293950" "0" "10" "1" "6537571" "6537577" "del" "0" "02330" "PLEKHG5_000033" "g.6537571_6537577del" "" "" "" "PLEKHG5(NM_198681.3):c.274+14_274+20delGGAGCCG, PLEKHG5(NM_198681.4):c.43+14_43+20delGGAGCCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6477511_6477517del" "" "benign" "" "0000293951" "0" "50" "1" "6528107" "6528107" "subst" "1.7438E-5" "02330" "PLEKHG5_000006" "g.6528107C>T" "" "" "" "PLEKHG5(NM_198681.4):c.2789G>A (p.R930Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6468047C>T" "" "VUS" "" "0000293952" "0" "10" "1" "6527745" "6527745" "subst" "0" "02330" "PLEKHG5_000005" "g.6527745C>T" "" "" "" "PLEKHG5(NM_198681.4):c.3012-113G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6467685C>T" "" "benign" "" "0000293953" "0" "10" "1" "6527711" "6527711" "subst" "0" "02330" "PLEKHG5_000004" "g.6527711G>A" "" "" "" "PLEKHG5(NM_198681.4):c.3012-79C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6467651G>A" "" "benign" "" "0000293954" "0" "10" "1" "6579521" "6579521" "subst" "0.0245093" "02330" "NOL9_000007" "g.6579521G>C" "" "" "" "PLEKHG5(NM_198681.4):c.-181C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6519461G>C" "" "benign" "" "0000293955" "0" "50" "1" "6534615" "6534615" "subst" "0" "02330" "PLEKHG5_000032" "g.6534615C>A" "" "" "" "PLEKHG5(NM_198681.4):c.335G>T (p.G112V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6474555C>A" "" "VUS" "" "0000293956" "0" "10" "1" "6534536" "6534536" "subst" "0.000227848" "02330" "PLEKHG5_000031" "g.6534536G>A" "" "" "" "PLEKHG5(NM_198681.4):c.414C>T (p.F138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6474476G>A" "" "benign" "" "0000293957" "0" "50" "1" "6534519" "6534519" "subst" "4.071E-6" "02330" "PLEKHG5_000030" "g.6534519C>A" "" "" "" "PLEKHG5(NM_198681.3):c.662G>T (p.R221L), PLEKHG5(NM_198681.4):c.431G>T (p.R144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6474459C>A" "" "VUS" "" "0000293958" "0" "30" "1" "6534499" "6534499" "subst" "2.44694E-5" "02330" "PLEKHG5_000029" "g.6534499G>C" "" "" "" "PLEKHG5(NM_198681.4):c.439+12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6474439G>C" "" "likely benign" "" "0000293959" "0" "10" "1" "6533393" "6533393" "subst" "0.156941" "02330" "PLEKHG5_000028" "g.6533393G>C" "" "" "" "PLEKHG5(NM_198681.4):c.713C>G (p.T238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6473333G>C" "" "benign" "" "0000293960" "0" "30" "1" "6533338" "6533338" "subst" "4.97647E-5" "02330" "PLEKHG5_000027" "g.6533338G>A" "" "" "" "PLEKHG5(NM_198681.3):c.999C>T (p.S333=), PLEKHG5(NM_198681.4):c.768C>T (p.S256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6473278G>A" "" "likely benign" "" "0000347444" "0" "50" "1" "6535122" "6535124" "del" "0" "02327" "PLEKHG5_000038" "g.6535122_6535124del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6475062_6475064del" "" "VUS" "" "0000348513" "0" "50" "1" "6530823" "6530823" "subst" "0" "02327" "PLEKHG5_000037" "g.6530823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6470763G>A" "" "VUS" "" "0000508203" "0" "50" "1" "6520126" "6520128" "dup" "0" "01943" "ESPN_000024" "g.6520126_6520128dup" "" "" "" "ESPN(NM_031475.3):c.2485_2487dupACG (p.T829dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6460066_6460068dup" "" "VUS" "" "0000508204" "0" "50" "1" "6520139" "6520139" "subst" "0" "02327" "ESPN_000025" "g.6520139A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6460079A>G" "" "VUS" "" "0000508206" "0" "50" "1" "6528371" "6528371" "subst" "0.000194284" "02330" "ESPN_000026" "g.6528371C>T" "" "" "" "PLEKHG5(NM_198681.3):c.2756G>A (p.R919Q), PLEKHG5(NM_198681.4):c.2525G>A (p.R842Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468311C>T" "" "VUS" "" "0000508207" "0" "30" "1" "6528371" "6528371" "subst" "0.000194284" "01943" "ESPN_000026" "g.6528371C>T" "" "" "" "PLEKHG5(NM_198681.3):c.2756G>A (p.R919Q), PLEKHG5(NM_198681.4):c.2525G>A (p.R842Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468311C>T" "" "likely benign" "" "0000508208" "0" "10" "1" "6528468" "6528468" "subst" "0.0561731" "02330" "ESPN_000027" "g.6528468C>T" "" "" "" "PLEKHG5(NM_198681.4):c.2428G>A (p.G810S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468408C>T" "" "benign" "" "0000508209" "0" "10" "1" "6528565" "6528565" "subst" "0.00946304" "02330" "ESPN_000028" "g.6528565G>A" "" "" "" "PLEKHG5(NM_198681.4):c.2331C>T (p.S777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468505G>A" "" "benign" "" "0000508211" "0" "50" "1" "6530391" "6530391" "subst" "0.000309096" "02330" "ESPN_000029" "g.6530391C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1705G>A (p.D569N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470331C>T" "" "VUS" "" "0000508213" "0" "10" "1" "6530435" "6530435" "subst" "0.127901" "02330" "ESPN_000031" "g.6530435A>G" "" "" "" "PLEKHG5(NM_198681.4):c.1681-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470375A>G" "" "benign" "" "0000508215" "0" "10" "1" "6530968" "6530968" "dup" "0" "02330" "ESPN_000032" "g.6530968dup" "" "" "" "PLEKHG5(NM_198681.4):c.1393-22dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470908dup" "" "benign" "" "0000508216" "0" "50" "1" "6533102" "6533102" "subst" "0.00262149" "02330" "PLEKHG5_000039" "g.6533102C>T" "" "" "" "PLEKHG5(NM_198681.3):c.1159G>A (p.D387N), PLEKHG5(NM_198681.4):c.928G>A (p.D310N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6473042C>T" "" "VUS" "" "0000508218" "0" "30" "1" "6533102" "6533102" "subst" "0.00262149" "02326" "PLEKHG5_000039" "g.6533102C>T" "" "" "" "PLEKHG5(NM_198681.3):c.1159G>A (p.D387N), PLEKHG5(NM_198681.4):c.928G>A (p.D310N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6473042C>T" "" "likely benign" "" "0000508219" "0" "50" "1" "6533387" "6533387" "subst" "0.000355812" "02330" "PLEKHG5_000040" "g.6533387T>C" "" "" "" "PLEKHG5(NM_198681.3):c.950A>G (p.D317G), PLEKHG5(NM_198681.4):c.719A>G (p.D240G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6473327T>C" "" "VUS" "" "0000508220" "0" "50" "1" "6533387" "6533387" "subst" "0.000355812" "01943" "PLEKHG5_000040" "g.6533387T>C" "" "" "" "PLEKHG5(NM_198681.3):c.950A>G (p.D317G), PLEKHG5(NM_198681.4):c.719A>G (p.D240G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6473327T>C" "" "VUS" "" "0000508222" "0" "10" "1" "6533528" "6533528" "subst" "0.00107869" "02330" "PLEKHG5_000041" "g.6533528G>A" "" "" "" "PLEKHG5(NM_198681.4):c.592-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6473468G>A" "" "benign" "" "0000508225" "0" "50" "1" "6534132" "6534132" "subst" "0.00132705" "02330" "PLEKHG5_000042" "g.6534132C>T" "" "" "" "PLEKHG5(NM_198681.4):c.532G>A (p.G178R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6474072C>T" "" "VUS" "" "0000508226" "0" "50" "1" "6534643" "6534643" "subst" "0.00190419" "02330" "PLEKHG5_000043" "g.6534643C>T" "" "" "" "PLEKHG5(NM_198681.3):c.538G>A (p.V180M), PLEKHG5(NM_198681.4):c.307G>A (p.V103M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6474583C>T" "" "VUS" "" "0000508228" "0" "50" "1" "6535135" "6535135" "subst" "5.27889E-5" "01943" "PLEKHG5_000045" "g.6535135C>T" "" "" "" "PLEKHG5(NM_198681.3):c.505G>A (p.V169I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6475075C>T" "" "VUS" "" "0000508229" "0" "50" "1" "6535140" "6535140" "subst" "4.06065E-6" "02327" "PLEKHG5_000046" "g.6535140T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6475080T>C" "" "VUS" "" "0000508230" "0" "10" "1" "6535149" "6535149" "subst" "0.00372765" "02330" "PLEKHG5_000047" "g.6535149A>G" "" "" "" "PLEKHG5(NM_198681.4):c.260T>C (p.I87T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6475089A>G" "" "benign" "" "0000508232" "0" "30" "1" "6535546" "6535546" "subst" "5.31615E-5" "02330" "PLEKHG5_000049" "g.6535546C>T" "" "" "" "PLEKHG5(NM_198681.4):c.186G>A (p.K62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6475486C>T" "" "likely benign" "" "0000508233" "0" "50" "1" "6536052" "6536052" "subst" "0.0024239" "02330" "PLEKHG5_000050" "g.6536052G>A" "" "" "" "PLEKHG5(NM_198681.4):c.88C>T (p.R30C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6475992G>A" "" "VUS" "" "0000508234" "0" "10" "1" "6537576" "6537576" "subst" "0.0187946" "02330" "PLEKHG5_000051" "g.6537576C>T" "" "" "" "PLEKHG5(NM_198681.4):c.43+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6477516C>T" "" "benign" "" "0000508235" "0" "50" "1" "6537598" "6537598" "subst" "0.00142033" "02330" "PLEKHG5_000052" "g.6537598G>T" "" "" "" "PLEKHG5(NM_198681.4):c.34C>A (p.P12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6477538G>T" "" "VUS" "" "0000508236" "0" "30" "1" "6537599" "6537599" "subst" "0.000306977" "02330" "PLEKHG5_000053" "g.6537599A>G" "" "" "" "PLEKHG5(NM_198681.4):c.33T>C (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6477539A>G" "" "likely benign" "" "0000508239" "0" "10" "1" "6579110" "6579110" "subst" "0" "02330" "NOL9_000006" "g.6579110A>G" "" "" "" "PLEKHG5(NM_198681.4):c.-165+395T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6519050A>G" "" "benign" "" "0000508240" "0" "10" "1" "6579607" "6579607" "subst" "0.859636" "02330" "NOL9_000008" "g.6579607C>T" "" "" "" "PLEKHG5(NM_198681.4):c.-267G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6519547C>T" "" "benign" "" "0000605898" "0" "50" "1" "6528150" "6528150" "subst" "0.000155783" "02330" "ESPN_000036" "g.6528150T>G" "" "" "" "PLEKHG5(NM_198681.4):c.2746A>C (p.T916P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468090T>G" "" "VUS" "" "0000605899" "0" "30" "1" "6529188" "6529188" "del" "0" "02330" "ESPN_000037" "g.6529188del" "" "" "" "PLEKHG5(NM_198681.4):c.2164delG (p.E722Rfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6469128del" "" "likely benign" "" "0000605900" "0" "30" "1" "6529190" "6529191" "del" "0" "02330" "ESPN_000038" "g.6529190_6529191del" "" "" "" "PLEKHG5(NM_198681.4):c.2160_2161delGG (p.E721Gfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6469130_6469131del" "" "likely benign" "" "0000605902" "0" "30" "1" "6530423" "6530423" "subst" "9.36734E-5" "02330" "ESPN_000030" "g.6530423C>G" "" "" "" "PLEKHG5(NM_198681.4):c.1681-8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470363C>G" "" "likely benign" "" "0000605903" "0" "50" "1" "6530670" "6530670" "subst" "2.29341E-5" "02330" "ESPN_000039" "g.6530670T>C" "" "" "" "PLEKHG5(NM_198681.4):c.1576A>G (p.N526D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470610T>C" "" "VUS" "" "0000605904" "0" "30" "1" "6530744" "6530748" "dup" "0" "02330" "ESPN_000040" "g.6530744_6530748dup" "" "" "" "PLEKHG5(NM_198681.4):c.1543-44_1543-40dupCTCCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6470684_6470688dup" "" "likely benign" "" "0000605905" "0" "10" "1" "6531966" "6531966" "subst" "0" "02330" "ESPN_000041" "g.6531966C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1081-98G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6471906C>T" "" "benign" "" "0000605906" "0" "50" "1" "6532673" "6532673" "subst" "0.00113401" "02326" "PLEKHG5_000026" "g.6532673G>A" "" "" "" "PLEKHG5(NM_198681.3):c.1225C>T (p.R409W), PLEKHG5(NM_198681.4):c.994C>T (p.R332W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6472613G>A" "" "VUS" "" "0000605907" "0" "30" "1" "6532738" "6532738" "subst" "0" "02330" "PLEKHG5_000055" "g.6532738G>A" "" "" "" "PLEKHG5(NM_198681.4):c.985-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6472678G>A" "" "likely benign" "" "0000605909" "0" "90" "1" "6533112" "6533118" "dup" "0" "02327" "PLEKHG5_000056" "g.6533112_6533118dup" "" "" "" "PLEKHG5(NM_001265593.1):c.1119_1125dupTGAAGAC (p.E376*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6473052_6473058dup" "" "pathogenic" "" "0000605912" "0" "30" "1" "6556585" "6556585" "subst" "0.00132203" "02326" "PLEKHG5_000036" "g.6556585G>A" "" "" "" "PLEKHG5(NM_198681.3):c.112C>T (p.P38S), PLEKHG5(NM_198681.4):c.-120C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6496525G>A" "" "likely benign" "" "0000620687" "0" "10" "1" "6537602" "6537602" "subst" "0.00200398" "02330" "PLEKHG5_000057" "g.6537602G>A" "" "" "" "PLEKHG5(NM_198681.4):c.30C>T (p.D10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6477542G>A" "" "benign" "" "0000647762" "1" "50" "1" "6527596" "6527596" "subst" "0.0109485" "03575" "PLEKHG5_000058" "g.6527596A>G" "94/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "94 heterozygous, no homozygous; {DB:CLININrs117494970}" "Germline" "" "rs117494970" "0" "" "" "g.6467536A>G" "" "VUS" "" "0000647763" "1" "50" "1" "6528411" "6528411" "subst" "0.000258147" "03575" "PLEKHG5_000059" "g.6528411C>A" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs200162521}" "Germline" "" "rs200162521" "0" "" "" "g.6468351C>A" "" "VUS" "" "0000647765" "1" "50" "1" "6532673" "6532673" "subst" "0.00113401" "03575" "PLEKHG5_000026" "g.6532673G>A" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs140202670}" "Germline" "" "rs140202670" "0" "" "" "g.6472613G>A" "" "VUS" "" "0000653100" "1" "50" "1" "6534643" "6534643" "subst" "0.00190419" "03575" "PLEKHG5_000043" "g.6534643C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs141032388}" "Germline" "" "rs141032388" "0" "" "" "g.6474583C>T" "" "VUS" "" "0000654095" "0" "30" "1" "6528262" "6528262" "subst" "0.000377084" "02330" "ESPN_000058" "g.6528262G>A" "" "" "" "PLEKHG5(NM_198681.4):c.2634C>T (p.S878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468202G>A" "" "likely benign" "" "0000654096" "0" "50" "1" "6528318" "6528318" "subst" "3.81624E-5" "02330" "ESPN_000059" "g.6528318G>A" "" "" "" "PLEKHG5(NM_198681.4):c.2578C>T (p.R860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468258G>A" "" "VUS" "" "0000654097" "0" "30" "1" "6528327" "6528327" "subst" "5.08703E-5" "02326" "ESPN_000060" "g.6528327G>A" "" "" "" "PLEKHG5(NM_198681.3):c.2800C>T (p.R934C), PLEKHG5(NM_198681.4):c.2569C>T (p.R857C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6468267G>A" "" "likely benign" "" "0000654098" "0" "10" "1" "6529206" "6529208" "del" "0" "02326" "PLEKHG5_000009" "g.6529206_6529208del" "" "" "" "PLEKHG5(NM_198681.3):c.2397_2399delGGA (p.E800del), PLEKHG5(NM_198681.4):c.2166_2168delGGA (p.E723del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6469146_6469148del" "" "benign" "" "0000654099" "0" "50" "1" "6531843" "6531843" "subst" "0" "02327" "ESPN_000061" "g.6531843A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6471783A>G" "" "VUS" "" "0000659569" "0" "50" "1" "6531837" "6531837" "subst" "0" "01164" "PLEKHG5_000060" "g.6531837T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6471777T>G" "" "VUS" "ACMG" "0000675913" "0" "50" "1" "6528411" "6528411" "subst" "0.000258147" "01943" "PLEKHG5_000059" "g.6528411C>A" "" "" "" "PLEKHG5(NM_198681.3):c.2716G>T (p.D906Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675914" "0" "30" "1" "6529605" "6529605" "subst" "0.000341278" "02330" "ESPN_000062" "g.6529605A>G" "" "" "" "PLEKHG5(NM_198681.4):c.1932T>C (p.P644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675917" "0" "30" "1" "6531575" "6531575" "subst" "0.00450806" "01943" "PLEKHG5_000022" "g.6531575G>C" "" "" "" "PLEKHG5(NM_198681.3):c.1485C>G (p.P495=), PLEKHG5(NM_198681.4):c.1254C>G (p.P418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688229" "0" "10" "1" "6528069" "6528069" "subst" "0.00551393" "02330" "ESPN_000063" "g.6528069C>G" "" "" "" "PLEKHG5(NM_198681.4):c.2827G>C (p.G943R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688230" "0" "10" "1" "6528320" "6528320" "subst" "0.00609129" "02330" "ESPN_000064" "g.6528320C>T" "" "" "" "PLEKHG5(NM_198681.4):c.2576G>A (p.R859H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688231" "0" "10" "1" "6528577" "6528577" "subst" "0.00146643" "02330" "ESPN_000065" "g.6528577G>A" "" "" "" "PLEKHG5(NM_198681.4):c.2319C>T (p.P773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688232" "0" "30" "1" "6530372" "6530372" "subst" "0.000719811" "02326" "ESPN_000066" "g.6530372G>A" "" "" "" "PLEKHG5(NM_198681.3):c.1955C>T (p.P652L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688234" "0" "30" "1" "6533112" "6533112" "subst" "0.000982903" "02330" "PLEKHG5_000061" "g.6533112G>A" "" "" "" "PLEKHG5(NM_198681.3):c.1149C>T (p.D383=), PLEKHG5(NM_198681.4):c.918C>T (p.D306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688235" "0" "30" "1" "6534230" "6534230" "subst" "0.000953371" "02326" "PLEKHG5_000062" "g.6534230T>C" "" "" "" "PLEKHG5(NM_198681.3):c.671-6A>G, PLEKHG5(NM_198681.4):c.440-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717634" "0" "50" "1" "6528159" "6528159" "subst" "4.79874E-6" "02330" "ESPN_000072" "g.6528159C>G" "" "" "" "PLEKHG5(NM_198681.3):c.2968G>C (p.G990R), PLEKHG5(NM_198681.4):c.2737G>C (p.G913R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717636" "0" "30" "1" "6532670" "6532670" "subst" "2.07459E-5" "02330" "PLEKHG5_000063" "g.6532670G>T" "" "" "" "PLEKHG5(NM_198681.4):c.997C>A (p.R333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717637" "0" "30" "1" "6534230" "6534230" "subst" "0.000953371" "02330" "PLEKHG5_000062" "g.6534230T>C" "" "" "" "PLEKHG5(NM_198681.3):c.671-6A>G, PLEKHG5(NM_198681.4):c.440-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717638" "0" "50" "1" "6534615" "6534615" "subst" "0" "02329" "PLEKHG5_000032" "g.6534615C>A" "" "" "" "PLEKHG5(NM_198681.4):c.335G>T (p.G112V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717639" "0" "30" "1" "6536053" "6536053" "subst" "0.000362614" "02330" "PLEKHG5_000064" "g.6536053C>T" "" "" "" "PLEKHG5(NM_198681.4):c.87G>A (p.P29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787355" "0" "50" "1" "6530932" "6530932" "subst" "0" "00006" "PLEKHG5_000065" "g.6530932G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.6470872G>A" "" "VUS" "" "0000799492" "0" "50" "1" "6528327" "6528327" "subst" "5.08703E-5" "02330" "ESPN_000060" "g.6528327G>A" "" "" "" "PLEKHG5(NM_198681.3):c.2800C>T (p.R934C), PLEKHG5(NM_198681.4):c.2569C>T (p.R857C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799494" "0" "50" "1" "6530607" "6530607" "subst" "2.53188E-5" "02330" "ESPN_000077" "g.6530607C>T" "" "" "" "PLEKHG5(NM_198681.4):c.1639G>A (p.A547T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833096" "1" "70" "1" "6528144" "6528145" "del" "0" "00006" "PLEKHG5_000066" "g.6528144_6528145del" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "NM_001265592.1:c.2989_2990del" "" "Germline" "" "" "0" "" "" "g.6468084_6468085del" "" "likely pathogenic" "" "0000833181" "2" "70" "1" "6529294" "6529294" "del" "0" "00006" "PLEKHG5_000067" "g.6529294del" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "NM_001265592.1:c.2294del" "" "Germline" "" "" "0" "" "" "g.6469234del" "" "likely pathogenic" "" "0000842369" "3" "70" "1" "6536081" "6536081" "subst" "0" "00006" "PLEKHG5_000068" "g.6536081C>T" "" "{PMID:Beijer 2022:34897098}, {DOI:Beijer 2022:10.3233/JND-210716}" "" "NM_198681.3:c.290G>A (Arg97Gln)" "" "Germline" "" "" "0" "" "" "g.6476021C>T" "" "likely pathogenic (recessive)" "" "0000842370" "3" "90" "1" "6529504" "6529504" "subst" "0" "00006" "PLEKHG5_000069" "g.6529504A>G" "" "{PMID:Maystadt 2007:17564964}" "" "" "not in 600 control chromosomes" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842371" "3" "90" "1" "6537598" "6537598" "del" "0" "00006" "PLEKHG5_000070" "g.6537598del" "" "{PMID:Azzedine 2013:23777631}" "" "NM_198681.3:c.269delC" "" "Germline" "yes" "" "0" "" "" "g.6477538del" "" "pathogenic (recessive)" "" "0000842372" "3" "90" "1" "6537598" "6537598" "del" "0" "00006" "PLEKHG5_000070" "g.6537598del" "" "{PMID:Azzedine 2013:23777631}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6477538del" "" "pathogenic (recessive)" "" "0000842373" "3" "90" "1" "6533112" "6533118" "dup" "0" "00006" "PLEKHG5_000056" "g.6533112_6533118dup" "" "{PMID:Azzedine 2013:23777631}" "" "NM_198681.3:c.1143_1149dup" "" "Germline" "yes" "" "0" "" "" "g.6473052_6473058dup" "" "pathogenic (recessive)" "" "0000842374" "3" "90" "1" "6533112" "6533118" "dup" "0" "00006" "PLEKHG5_000056" "g.6533112_6533118dup" "" "{PMID:Azzedine 2013:23777631}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6473052_6473058dup" "" "pathogenic (recessive)" "" "0000842375" "3" "90" "1" "6533112" "6533118" "dup" "0" "00006" "PLEKHG5_000056" "g.6533112_6533118dup" "" "{PMID:Azzedine 2013:23777631}" "" "" "" "Germline" "yes" "" "0" "" "" "g.6473052_6473058dup" "" "pathogenic (recessive)" "" "0000842376" "11" "70" "1" "6529456" "6529456" "subst" "2.03051E-5" "00006" "PLEKHG5_000071" "g.6529456G>A" "" "{PMID:Kim 2013:23844677}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000842377" "21" "70" "1" "6528438" "6528438" "subst" "2.98523E-5" "00006" "PLEKHG5_000072" "g.6528438C>G" "" "{PMID:Kim 2013:23844677}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000842378" "3" "70" "1" "6529648" "6529648" "subst" "0" "00006" "PLEKHG5_000073" "g.6529648G>T" "" "{PMID:Ozoguz 2015:25681989}" "" "P630H" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000842379" "3" "90" "1" "6556616" "6556620" "del" "0" "00006" "PLEKHG5_000074" "g.6556616_6556620del" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.79_83del (Pro27Ter)" "" "Germline" "" "" "0" "" "" "g.6496556_6496560del" "" "pathogenic (recessive)" "" "0000842380" "3" "90" "1" "6556616" "6556620" "del" "0" "00006" "PLEKHG5_000074" "g.6556616_6556620del" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.79_83del (Pro27Ter)" "" "Germline" "" "" "0" "" "" "g.6496556_6496560del" "" "pathogenic (recessive)" "" "0000842381" "3" "90" "1" "6556616" "6556620" "del" "0" "00006" "PLEKHG5_000074" "g.6556616_6556620del" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.79_83del (Pro27Ter)" "" "Germline" "" "" "0" "" "" "g.6496556_6496560del" "" "pathogenic (recessive)" "" "0000842382" "3" "90" "1" "6530920" "6530920" "subst" "0" "00006" "PLEKHG5_000075" "g.6530920G>A" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.1648C>T" "" "Germline" "" "" "0" "" "" "g.6470860G>A" "" "pathogenic (recessive)" "" "0000842383" "3" "70" "1" "6529648" "6529648" "subst" "0" "00006" "PLEKHG5_000073" "g.6529648G>T" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.2120C>A" "" "Germline" "" "" "0" "" "" "g.6469588G>T" "" "likely pathogenic (recessive)" "" "0000842384" "3" "90" "1" "6536084" "6536084" "del" "0" "00006" "PLEKHG5_000076" "g.6536084del" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.289delC" "" "Germline" "" "" "0" "" "" "g.6476024del" "" "pathogenic (recessive)" "" "0000842385" "3" "70" "1" "6530899" "6530899" "subst" "0" "00006" "PLEKHG5_000077" "g.6530899T>G" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.1669A>C" "" "Germline" "" "" "0" "" "" "g.6470839T>G" "" "likely pathogenic (recessive)" "" "0000842386" "3" "70" "1" "6529711" "6529711" "subst" "8.14226E-6" "00006" "PLEKHG5_000078" "g.6529711G>A" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.2057C>T" "" "Germline" "" "" "0" "" "" "g.6469651G>A" "" "likely pathogenic (recessive)" "" "0000842387" "3" "70" "1" "6531696" "6531696" "subst" "0" "00006" "PLEKHG5_000079" "g.6531696A>C" "" "{PMID:Chen 2021:33220101}" "" "NM_198681.3:c.1364T>G" "" "Germline" "" "" "0" "" "" "g.6471636A>C" "" "likely pathogenic (recessive)" "" "0000842395" "3" "50" "1" "6528392" "6528392" "subst" "0" "00006" "PLEKHG5_000085" "g.6528392G>A" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.6468332G>A" "" "VUS" "ACMG" "0000842404" "1" "90" "1" "6529737" "6529737" "subst" "0" "00006" "PLEKHG5_000080" "g.6529737C>T" "" "{PMID:Miao 2021:34236308}" "" "2038-1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842405" "2" "90" "1" "6533048" "6533048" "subst" "0" "00006" "PLEKHG5_000081" "g.6533048C>A" "" "{PMID:Miao 2021:34236308}" "" "c.1219G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000842406" "1" "90" "1" "6530621" "6530646" "del" "0" "00006" "PLEKHG5_000082" "g.6530621_6530646del" "" "{PMID:Villar-Quiles 2021:34244018}" "" "NM_198681.3:c.1835_1860del" "" "Germline" "" "" "0" "" "" "g.6470561_6470586del" "" "pathogenic (recessive)" "" "0000842407" "2" "90" "1" "6529275" "6529275" "del" "0" "00006" "PLEKHG5_000083" "g.6529275del" "" "{PMID:Villar-Quiles 2021:34244018}" "" "NM_198681.3:c.2308delG" "" "Germline" "" "" "0" "" "" "g.6469215del" "" "pathogenic (recessive)" "" "0000842409" "3" "90" "1" "6556593" "6556593" "del" "0" "00006" "PLEKHG5_000084" "g.6556593del" "" "{PMID:Villar-Quiles 2021:34244018}" "" "NM_198681.3:c.104delG" "" "Germline" "yes" "" "0" "" "" "g.6496533del" "" "pathogenic (recessive)" "" "0000848814" "0" "30" "1" "6532574" "6532574" "subst" "0" "02330" "PLEKHG5_000086" "g.6532574A>G" "" "" "" "PLEKHG5(NM_198681.4):c.1080+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857583" "0" "30" "1" "6520039" "6520039" "subst" "0.000224864" "02330" "ESPN_000082" "g.6520039C>T" "" "" "" "ESPN(NM_031475.3):c.2418-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857584" "0" "50" "1" "6528159" "6528159" "subst" "4.79874E-6" "01943" "ESPN_000072" "g.6528159C>G" "" "" "" "PLEKHG5(NM_198681.3):c.2968G>C (p.G990R), PLEKHG5(NM_198681.4):c.2737G>C (p.G913R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857585" "0" "50" "1" "6528615" "6528615" "subst" "4.13179E-6" "02330" "ESPN_000083" "g.6528615T>C" "" "" "" "PLEKHG5(NM_198681.4):c.2281A>G (p.M761V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857586" "0" "50" "1" "6529187" "6529187" "subst" "0" "02330" "ESPN_000084" "g.6529187C>T" "" "" "" "PLEKHG5(NM_198681.4):c.2164G>A (p.E722K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857587" "0" "70" "1" "6530697" "6530698" "del" "0" "01943" "ESPN_000085" "g.6530697_6530698del" "" "" "" "PLEKHG5(NM_198681.3):c.1780_1781delTC (p.S594Rfs*137)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000857589" "0" "50" "1" "6534519" "6534519" "subst" "4.071E-6" "01943" "PLEKHG5_000030" "g.6534519C>A" "" "" "" "PLEKHG5(NM_198681.3):c.662G>T (p.R221L), PLEKHG5(NM_198681.4):c.431G>T (p.R144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857590" "0" "70" "1" "6537588" "6537588" "subst" "0" "02330" "PLEKHG5_000087" "g.6537588C>T" "" "" "" "PLEKHG5(NM_198681.4):c.43+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883552" "0" "50" "1" "6529718" "6529718" "subst" "0" "02327" "ESPN_000092" "g.6529718G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883554" "0" "30" "1" "6533415" "6533415" "subst" "0.000951772" "02330" "PLEKHG5_000088" "g.6533415C>T" "" "" "" "PLEKHG5(NM_198681.4):c.691G>A (p.G231S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883556" "0" "30" "1" "6537571" "6537577" "del" "0" "02326" "PLEKHG5_000033" "g.6537571_6537577del" "" "" "" "PLEKHG5(NM_198681.3):c.274+14_274+20delGGAGCCG, PLEKHG5(NM_198681.4):c.43+14_43+20delGGAGCCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911115" "0" "30" "1" "6528465" "6528465" "subst" "0.000284397" "02330" "ESPN_000093" "g.6528465G>A" "" "" "" "PLEKHG5(NM_001265593.1):c.2638C>T (p.R880C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911116" "0" "30" "1" "6528535" "6528535" "subst" "4.90826E-5" "02326" "ESPN_000094" "g.6528535G>A" "" "" "" "PLEKHG5(NM_198681.3):c.2592C>T (p.T864=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911117" "0" "10" "1" "6533303" "6533303" "subst" "0.00263772" "02330" "PLEKHG5_000089" "g.6533303C>T" "" "" "" "PLEKHG5(NM_001265593.1):c.1002+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923228" "0" "30" "1" "6534106" "6534106" "subst" "4.62725E-5" "02330" "PLEKHG5_000090" "g.6534106G>A" "" "" "" "PLEKHG5(NM_001265593.1):c.765C>T (p.D255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928207" "0" "50" "1" "6520113" "6520113" "del" "0" "02327" "ESPN_000095" "g.6520113del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928208" "0" "30" "1" "6533112" "6533112" "subst" "0.000982903" "02326" "PLEKHG5_000061" "g.6533112G>A" "" "" "" "PLEKHG5(NM_198681.3):c.1149C>T (p.D383=), PLEKHG5(NM_198681.4):c.918C>T (p.D306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947288" "0" "50" "1" "6533165" "6533165" "subst" "2.85339E-5" "02330" "PLEKHG5_000091" "g.6533165G>A" "" "" "" "PLEKHG5(NM_001265593.1):c.1072C>T (p.P358S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961132" "0" "30" "1" "6532644" "6532644" "subst" "9.01676E-5" "02330" "PLEKHG5_000092" "g.6532644C>T" "" "" "" "PLEKHG5(NM_001265593.1):c.1230G>A (p.V410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961133" "0" "50" "1" "6533112" "6533118" "dup" "0" "02330" "PLEKHG5_000056" "g.6533112_6533118dup" "" "" "" "PLEKHG5(NM_001265593.1):c.1119_1125dupTGAAGAC (p.E376*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974081" "0" "30" "1" "6530547" "6530547" "subst" "6.55372E-5" "02326" "ESPN_000102" "g.6530547C>T" "" "" "" "PLEKHG5(NM_198681.3):c.1911+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974083" "0" "30" "1" "6533148" "6533148" "subst" "6.52209E-5" "02326" "PLEKHG5_000093" "g.6533148G>A" "" "" "" "PLEKHG5(NM_198681.3):c.1113C>T (p.F371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974084" "0" "30" "1" "6533338" "6533338" "subst" "4.97647E-5" "02326" "PLEKHG5_000027" "g.6533338G>A" "" "" "" "PLEKHG5(NM_198681.3):c.999C>T (p.S333=), PLEKHG5(NM_198681.4):c.768C>T (p.S256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974085" "0" "30" "1" "6534643" "6534643" "subst" "0.00190419" "02326" "PLEKHG5_000043" "g.6534643C>T" "" "" "" "PLEKHG5(NM_198681.3):c.538G>A (p.V180M), PLEKHG5(NM_198681.4):c.307G>A (p.V103M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991396" "0" "70" "1" "6529292" "6529292" "subst" "0" "01804" "ESPN_000105" "g.6529292G>A" "" "" "" "PLEKHG5(NM_020631.4):c.2059C>T (p.(Gln687*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001013341" "0" "10" "1" "6529281" "6529281" "subst" "0.000282047" "02330" "ESPN_000106" "g.6529281A>G" "" "" "" "PLEKHG5(NM_001265593.1):c.2277T>C (p.R759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001032161" "0" "10" "1" "6545369" "6545369" "subst" "0" "02330" "PLEKHG5_000094" "g.6545369G>A" "" "" "" "PLEKHG5(NM_001265593.1):c.120+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PLEKHG5 ## Count = 160 "{{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}}" "0000245459" "00016342" "10" "2001" "0" "2001" "0" "c.2001T>C" "r.(?)" "p.(Ser667=)" "" "0000245465" "00016342" "10" "-88" "6307" "-88" "6307" "c.-88+6307T>A" "r.(=)" "p.(=)" "" "0000245520" "00016342" "10" "3311" "0" "3311" "0" "c.*290T>C" "r.(=)" "p.(=)" "" "0000245521" "00016342" "10" "1800" "140" "1800" "140" "c.1800+140T>C" "r.(=)" "p.(=)" "" "0000245522" "00016342" "10" "-5400" "0" "-5400" "0" "c.-5400T>G" "r.(?)" "p.(=)" "" "0000245565" "00016342" "50" "1709" "0" "1709" "0" "c.1709T>C" "r.(?)" "p.(Leu570Ser)" "" "0000293927" "00016342" "10" "-28234" "0" "-28234" "0" "c.-28234G>A" "r.(?)" "p.(=)" "" "0000293928" "00016342" "10" "-88" "6188" "-88" "6188" "c.-88+6188G>A" "r.(=)" "p.(=)" "" "0000293929" "00016342" "10" "-28044" "0" "-28044" "0" "c.-28044C>G" "r.(?)" "p.(=)" "" "0000293930" "00016342" "10" "4179" "0" "4179" "0" "c.*1158G>C" "r.(=)" "p.(=)" "" "0000293931" "00016342" "10" "3718" "0" "3718" "0" "c.*697C>T" "r.(=)" "p.(=)" "" "0000293932" "00016342" "50" "-4976" "0" "-4976" "0" "c.-4976C>T" "r.(?)" "p.(=)" "" "0000293933" "00016342" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000293934" "00016342" "10" "1179" "0" "1179" "0" "c.1179G>A" "r.(?)" "p.(Leu393=)" "" "0000293935" "00016342" "30" "1236" "0" "1236" "0" "c.1236G>A" "r.(?)" "p.(Thr412=)" "" "0000293936" "00016342" "10" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Ala414Thr)" "" "0000293937" "00016342" "10" "1254" "0" "1254" "0" "c.1254C>G" "r.(?)" "p.(Pro418=)" "" "0000293938" "00016342" "10" "1318" "0" "1318" "0" "c.1318A>G" "r.(?)" "p.(Met440Val)" "" "0000293940" "00016342" "10" "1800" "107" "1800" "107" "c.1800+107C>T" "r.(=)" "p.(=)" "" "0000293941" "00016342" "10" "1800" "154" "1800" "154" "c.1800+154A>C" "r.(=)" "p.(=)" "" "0000293942" "00016342" "10" "1801" "-12" "1801" "-12" "c.1801-12C>A" "r.(=)" "p.(=)" "" "0000293943" "00016342" "10" "1801" "-71" "1801" "-71" "c.1801-71G>A" "r.(=)" "p.(=)" "" "0000293944" "00016342" "10" "1801" "-87" "1801" "-87" "c.1801-87C>G" "r.(=)" "p.(=)" "" "0000293945" "00016342" "10" "2163" "0" "2168" "0" "c.2163_2168del" "r.(?)" "p.(Glu722_Glu723del)" "" "0000293946" "00016342" "10" "2163" "0" "2163" "0" "c.2163G>A" "r.(?)" "p.(Glu721=)" "" "0000293947" "00016342" "10" "2166" "0" "2168" "0" "c.2166_2168del" "r.(?)" "p.(Glu723del)" "" "0000293948" "00016342" "10" "2307" "0" "2307" "0" "c.2307G>A" "r.(?)" "p.(Thr769=)" "" "0000293949" "00016342" "30" "2457" "0" "2457" "0" "c.2457C>T" "r.(?)" "p.(Tyr819=)" "" "0000293950" "00016342" "10" "43" "14" "43" "20" "c.43+14_43+20del" "r.(=)" "p.(=)" "" "0000293951" "00016342" "50" "2789" "0" "2789" "0" "c.2789G>A" "r.(?)" "p.(Arg930Gln)" "" "0000293952" "00016342" "10" "3012" "-113" "3012" "-113" "c.3012-113G>A" "r.(=)" "p.(=)" "" "0000293953" "00016342" "10" "3012" "-79" "3012" "-79" "c.3012-79C>T" "r.(=)" "p.(=)" "" "0000293954" "00016342" "10" "-27912" "0" "-27912" "0" "c.-27912C>G" "r.(?)" "p.(=)" "" "0000293955" "00016342" "50" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "" "0000293956" "00016342" "10" "414" "0" "414" "0" "c.414C>T" "r.(?)" "p.(Phe138=)" "" "0000293957" "00016342" "50" "431" "0" "431" "0" "c.431G>T" "r.(?)" "p.(Arg144Leu)" "" "0000293958" "00016342" "30" "439" "12" "439" "12" "c.439+12C>G" "r.(=)" "p.(=)" "" "0000293959" "00016342" "10" "713" "0" "713" "0" "c.713C>G" "r.(?)" "p.(Thr238Ser)" "" "0000293960" "00016342" "30" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Ser256=)" "" "0000347444" "00016342" "50" "292" "0" "294" "0" "c.292_294del" "r.(?)" "p.(Lys98del)" "" "0000348513" "00016342" "50" "1514" "0" "1514" "0" "c.1514C>T" "r.(?)" "p.(Pro505Leu)" "" "0000508203" "00016342" "50" "10517" "0" "10519" "0" "c.*7496_*7498dup" "r.(=)" "p.(=)" "" "0000508204" "00016342" "50" "10505" "0" "10505" "0" "c.*7484T>C" "r.(=)" "p.(=)" "" "0000508206" "00016342" "50" "2525" "0" "2525" "0" "c.2525G>A" "r.(?)" "p.(Arg842Gln)" "" "0000508207" "00016342" "30" "2525" "0" "2525" "0" "c.2525G>A" "r.(?)" "p.(Arg842Gln)" "" "0000508208" "00016342" "10" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Gly810Ser)" "" "0000508209" "00016342" "10" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Ser777=)" "" "0000508211" "00016342" "50" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Asp569Asn)" "" "0000508213" "00016342" "10" "1681" "-20" "1681" "-20" "c.1681-20T>C" "r.(=)" "p.(=)" "" "0000508215" "00016342" "10" "1393" "-22" "1393" "-22" "c.1393-22dup" "r.(=)" "p.(=)" "" "0000508216" "00016342" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Asp310Asn)" "" "0000508218" "00016342" "30" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Asp310Asn)" "" "0000508219" "00016342" "50" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(Asp240Gly)" "" "0000508220" "00016342" "50" "719" "0" "719" "0" "c.719A>G" "r.(?)" "p.(Asp240Gly)" "" "0000508222" "00016342" "10" "592" "-14" "592" "-14" "c.592-14C>T" "r.(=)" "p.(=)" "" "0000508225" "00016342" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Gly178Arg)" "" "0000508226" "00016342" "50" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000508228" "00016342" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Ile)" "" "0000508229" "00016342" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Glu90Gly)" "" "0000508230" "00016342" "10" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Ile87Thr)" "" "0000508232" "00016342" "30" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Lys62=)" "" "0000508233" "00016342" "50" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Arg30Cys)" "" "0000508234" "00016342" "10" "43" "13" "43" "13" "c.43+13G>A" "r.(=)" "p.(=)" "" "0000508235" "00016342" "50" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Pro12Thr)" "" "0000508236" "00016342" "30" "33" "0" "33" "0" "c.33T>C" "r.(?)" "p.(Leu11=)" "" "0000508239" "00016342" "10" "-27501" "0" "-27501" "0" "c.-27501T>C" "r.(?)" "p.(=)" "" "0000508240" "00016342" "10" "-27998" "0" "-27998" "0" "c.-27998G>A" "r.(?)" "p.(=)" "" "0000605898" "00016342" "50" "2746" "0" "2746" "0" "c.2746A>C" "r.(?)" "p.(Thr916Pro)" "" "0000605899" "00016342" "30" "2164" "0" "2164" "0" "c.2164del" "r.(?)" "p.(Glu722ArgfsTer43)" "" "0000605900" "00016342" "30" "2160" "0" "2161" "0" "c.2160_2161del" "r.(?)" "p.(Glu721GlyfsTer64)" "" "0000605902" "00016342" "30" "1681" "-8" "1681" "-8" "c.1681-8G>C" "r.(=)" "p.(=)" "" "0000605903" "00016342" "50" "1576" "0" "1576" "0" "c.1576A>G" "r.(?)" "p.(Asn526Asp)" "" "0000605904" "00016342" "30" "1543" "-44" "1543" "-40" "c.1543-44_1543-40dup" "r.(=)" "p.(=)" "" "0000605905" "00016342" "10" "1081" "-98" "1081" "-98" "c.1081-98G>A" "r.(=)" "p.(=)" "" "0000605906" "00016342" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000605907" "00016342" "30" "985" "-56" "985" "-56" "c.985-56C>T" "r.(=)" "p.(=)" "" "0000605909" "00016342" "90" "912" "0" "918" "0" "c.912_918dup" "r.(?)" "p.(Glu307Ter)" "" "0000605912" "00016342" "30" "-4976" "0" "-4976" "0" "c.-4976C>T" "r.(?)" "p.(=)" "" "0000620687" "00016342" "10" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.(Asp10=)" "" "0000647762" "00016342" "50" "3048" "0" "3048" "0" "c.*27T>C" "r.(=)" "p.(=)" "" "0000647763" "00016342" "50" "2485" "0" "2485" "0" "c.2485G>T" "r.(?)" "p.(Asp829Tyr)" "" "0000647765" "00016342" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0000653100" "00016342" "50" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000654095" "00016342" "30" "2634" "0" "2634" "0" "c.2634C>T" "r.(?)" "p.(Ser878=)" "" "0000654096" "00016342" "50" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Arg860Cys)" "" "0000654097" "00016342" "30" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Arg857Cys)" "" "0000654098" "00016342" "10" "2166" "0" "2168" "0" "c.2166_2168del" "r.(?)" "p.(Glu723del)" "" "0000654099" "00016342" "50" "1106" "0" "1106" "0" "c.1106T>C" "r.(?)" "p.(Leu369Pro)" "" "0000659569" "00016342" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Glu371Ala)" "" "0000675913" "00016342" "50" "2485" "0" "2485" "0" "c.2485G>T" "r.(?)" "p.(Asp829Tyr)" "" "0000675914" "00016342" "30" "1932" "0" "1932" "0" "c.1932T>C" "r.(?)" "p.(Pro644=)" "" "0000675917" "00016342" "30" "1254" "0" "1254" "0" "c.1254C>G" "r.(?)" "p.(Pro418=)" "" "0000688229" "00016342" "10" "2827" "0" "2827" "0" "c.2827G>C" "r.(?)" "p.(Gly943Arg)" "" "0000688230" "00016342" "10" "2576" "0" "2576" "0" "c.2576G>A" "r.(?)" "p.(Arg859His)" "" "0000688231" "00016342" "10" "2319" "0" "2319" "0" "c.2319C>T" "r.(?)" "p.(Pro773=)" "" "0000688232" "00016342" "30" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Pro575Leu)" "" "0000688234" "00016342" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Asp306=)" "" "0000688235" "00016342" "30" "440" "-6" "440" "-6" "c.440-6A>G" "r.(=)" "p.(=)" "" "0000717634" "00016342" "50" "2737" "0" "2737" "0" "c.2737G>C" "r.(?)" "p.(Gly913Arg)" "" "0000717636" "00016342" "30" "997" "0" "997" "0" "c.997C>A" "r.(?)" "p.(Arg333=)" "" "0000717637" "00016342" "30" "440" "-6" "440" "-6" "c.440-6A>G" "r.(=)" "p.(=)" "" "0000717638" "00016342" "50" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Gly112Val)" "" "0000717639" "00016342" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Pro29=)" "" "0000787355" "00016342" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(His469Tyr)" "14" "0000799492" "00016342" "50" "2569" "0" "2569" "0" "c.2569C>T" "r.(?)" "p.(Arg857Cys)" "" "0000799494" "00016342" "50" "1639" "0" "1639" "0" "c.1639G>A" "r.(?)" "p.(Ala547Thr)" "" "0000833096" "00016342" "70" "2752" "0" "2753" "0" "c.2752_2753del" "r.(?)" "p.(Gly918Leufs*16)" "" "0000833181" "00016342" "70" "2057" "0" "2057" "0" "c.2057del" "r.(?)" "p.(Leu686ArgfsTer79)" "" "0000842369" "00016342" "70" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Arg20Gln)" "" "0000842370" "00016342" "90" "1940" "0" "1940" "0" "c.1940T>C" "r.(?)" "p.(Phe647Ser)" "" "0000842371" "00016342" "90" "38" "0" "38" "0" "c.38del" "r.(?)" "p.(Pro13Hisfs*45)" "" "0000842372" "00016342" "90" "38" "0" "38" "0" "c.38del" "r.(?)" "p.(Pro13Hisfs*45)" "" "0000842373" "00016342" "90" "912" "0" "918" "0" "c.912_918dup" "r.(?)" "p.(Glu307*)" "" "0000842374" "00016342" "90" "912" "0" "918" "0" "c.912_918dup" "r.(?)" "p.(Glu307*)" "" "0000842375" "00016342" "90" "912" "0" "918" "0" "c.912_918dup" "r.(?)" "p.(Glu307*)" "" "0000842376" "00016342" "70" "1988" "0" "1988" "0" "c.1988C>T" "r.(?)" "p.(Thr663Met)" "" "0000842377" "00016342" "70" "2458" "0" "2458" "0" "c.2458G>C" "r.(?)" "p.(Gly820Arg)" "" "0000842378" "00016342" "70" "1889" "0" "1889" "0" "c.1889C>A" "r.(?)" "p.(Pro630His)" "" "0000842379" "00016342" "90" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "0000842380" "00016342" "90" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "0000842381" "00016342" "90" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "" "0000842382" "00016342" "90" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Gln473*)" "" "0000842383" "00016342" "70" "1889" "0" "1889" "0" "c.1889C>A" "r.(?)" "p.(Pro630His)" "" "0000842384" "00016342" "90" "58" "0" "58" "0" "c.58del" "r.(?)" "p.(Arg20Glyfs*38)" "" "0000842385" "00016342" "70" "1438" "0" "1438" "0" "c.1438A>C" "r.(?)" "p.(Met480Leu)" "" "0000842386" "00016342" "70" "1826" "0" "1826" "0" "c.1826C>T" "r.(?)" "p.(Thr609Met)" "" "0000842387" "00016342" "70" "1133" "0" "1133" "0" "c.1133T>G" "r.(?)" "p.(Val378Gly)" "" "0000842395" "00016342" "50" "2504" "0" "2504" "0" "c.2504C>T" "r.(?)" "p.(Pro835Leu)" "" "0000842404" "00016342" "90" "1801" "-1" "1801" "-1" "c.1801-1G>A" "r.spl" "p.?" "" "0000842405" "00016342" "90" "982" "0" "982" "0" "c.982G>T" "r.(?)" "p.(Glu328*)" "" "0000842406" "00016342" "90" "1604" "0" "1629" "0" "c.1604_1629del" "r.(?)" "p.(Arg535Profs*111)" "" "0000842407" "00016342" "90" "2077" "0" "2077" "0" "c.2077del" "r.(?)" "p.(Glu693Serfs*72)" "" "0000842409" "00016342" "90" "-4984" "0" "-4984" "0" "c.-4984del" "r.(?)" "p.(=)" "_1" "0000848814" "00016342" "30" "1080" "13" "1080" "13" "c.1080+13T>C" "r.(=)" "p.(=)" "" "0000857583" "00016342" "30" "10605" "0" "10605" "0" "c.*7584G>A" "r.(=)" "p.(=)" "" "0000857584" "00016342" "50" "2737" "0" "2737" "0" "c.2737G>C" "r.(?)" "p.(Gly913Arg)" "" "0000857585" "00016342" "50" "2281" "0" "2281" "0" "c.2281A>G" "r.(?)" "p.(Met761Val)" "" "0000857586" "00016342" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Glu722Lys)" "" "0000857587" "00016342" "70" "1549" "0" "1550" "0" "c.1549_1550del" "r.(?)" "p.(Ser517Argfs*137)" "" "0000857589" "00016342" "50" "431" "0" "431" "0" "c.431G>T" "r.(?)" "p.(Arg144Leu)" "" "0000857590" "00016342" "70" "43" "1" "43" "1" "c.43+1G>A" "r.spl?" "p.?" "" "0000883552" "00016342" "50" "1819" "0" "1819" "0" "c.1819C>G" "r.(?)" "p.(Leu607Val)" "" "0000883554" "00016342" "30" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Gly231Ser)" "" "0000883556" "00016342" "30" "43" "14" "43" "20" "c.43+14_43+20del" "r.(=)" "p.(=)" "" "0000911115" "00016342" "30" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Cys)" "" "0000911116" "00016342" "30" "2361" "0" "2361" "0" "c.2361C>T" "r.(?)" "p.(Thr787=)" "" "0000911117" "00016342" "10" "795" "8" "795" "8" "c.795+8G>A" "r.(=)" "p.(=)" "" "0000923228" "00016342" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(Asp186=)" "" "0000928207" "00016342" "50" "10531" "0" "10531" "0" "c.*7510del" "r.(?)" "p.(=)" "" "0000928208" "00016342" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Asp306=)" "" "0000947288" "00016342" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" "0000961132" "00016342" "30" "1023" "0" "1023" "0" "c.1023G>A" "r.(?)" "p.(=)" "" "0000961133" "00016342" "50" "912" "0" "918" "0" "c.912_918dup" "r.(?)" "p.(Glu307Ter)" "" "0000974081" "00016342" "30" "1680" "19" "1680" "19" "c.1680+19G>A" "r.(=)" "p.(=)" "" "0000974083" "00016342" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(=)" "" "0000974084" "00016342" "30" "768" "0" "768" "0" "c.768C>T" "r.(?)" "p.(Ser256=)" "" "0000974085" "00016342" "30" "307" "0" "307" "0" "c.307G>A" "r.(?)" "p.(Val103Met)" "" "0000991396" "00016342" "70" "2059" "0" "2059" "0" "c.2059C>T" "r.(?)" "p.(Gln687*)" "" "0001013341" "00016342" "10" "2070" "0" "2070" "0" "c.2070T>C" "r.(?)" "p.(=)" "" "0001032161" "00016342" "10" "-88" "6328" "-88" "6328" "c.-88+6328C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000291073" "0000647762" "0000291074" "0000647763" "0000291076" "0000647765" "0000296411" "0000653100" "0000296918" "0000659569" "0000376004" "0000787355" "0000400289" "0000833096" "0000400289" "0000833181" "0000406139" "0000842369" "0000406140" "0000842370" "0000406141" "0000842371" "0000406142" "0000842372" "0000406143" "0000842373" "0000406144" "0000842374" "0000406145" "0000842375" "0000406146" "0000842376" "0000406146" "0000842377" "0000406147" "0000842378" "0000406148" "0000842379" "0000406149" "0000842380" "0000406150" "0000842381" "0000406151" "0000842382" "0000406152" "0000842383" "0000406153" "0000842384" "0000406154" "0000842385" "0000406155" "0000842386" "0000406156" "0000842387" "0000406164" "0000842395" "0000406173" "0000842404" "0000406173" "0000842405" "0000406174" "0000842406" "0000406174" "0000842407" "0000406175" "0000842409"