### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARHGEF10) # 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}}" "ARHGEF10" "Rho guanine nucleotide exchange factor (GEF) 10" "8" "p23" "unknown" "NG_008480.1" "UD_132118846223" "" "https://www.LOVD.nl/ARHGEF10" "Inherited Peripheral Neuropathies database " "1" "14103" "9639" "608136" "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. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/ARHGEF10_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" "2020-11-11 15:11:53" "00006" "2026-03-06 17:26:39" ## 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}}" "00002816" "ARHGEF10" "Rho guanine nucleotide exchange factor (GEF) 10" "001" "NM_014629.2" "" "NP_055444.2" "" "" "" "-178" "5413" "4035" "1772149" "1906807" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "02747" "SNCV" "nerve conduction velocity, slowed, autosomal dominant (SNCV)" "AD" "608236" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ARHGEF10" "02747" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00057795" "" "" "" "13" "" "00006" "{PMID:Nelis 1998:9678704}, {PMID:Verhoeven 2003:14508709}" "5-generation family, 13 affecteds" "" "no" "Belgium" "" "0" "" "" "" "" "00208840" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00225725" "" "" "" "3" "" "00006" "{PMID:Nakhro 2013:23749797}" "3-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "no" "Korea" "" "0" "" "" "" "23749797-FamFC478" "00374659" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2954" "00374660" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-592" "00414365" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP32" "00468626" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468627" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00473770" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam9614314Pat1226" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00057795" "02747" "00225725" "05113" "00374659" "00198" "00374660" "00198" "00414365" "00198" "00468626" "00198" "00468627" "00198" "00473770" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02747, 05113 ## Count = 9 "{{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}}" "0000044446" "02747" "00057795" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157449" "00198" "00208840" "01164" "Unknown" "" "HP:0003738 (Exercise-induced myalgia); HP:0003200 (Ragged-red muscle fibers)" "" "" "" "" "" "" "" "" "" "" "" "0000170836" "05113" "00225725" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMT-4B3" "Charcot-Marie-Tooth disease" "" "0000269869" "00198" "00374659" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000269870" "00198" "00374660" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000306200" "00198" "00414365" "00000" "Familial, autosomal dominant" "25y" "Slowed Nerve Conduction Velocity;Charcot-Marie-Tooth disease" "" "" "" "" "" "" "" "" "" "" "" "0000353779" "00198" "00468626" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" "" "0000353780" "00198" "00468627" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the peripheral nervous system" "" "0000358565" "05113" "00473770" "00006" "Unknown" "66y" "onset:4y with imbalance; Progressive disorder; Not able to walk independently; Difficulty climbing steps, running and rising from seated position; Pos gowers sign; Distal muscle weakness in legs; Ataxia; Hand tremor; Thenar atrophy; Claw toes, feet; Hearing loss from 10y; CPK:314; LDH:241; EMG-NCV:chronic axonal sensorimotor polyneuropathy; MLPA-CMT:no del/dup" "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057756" "00057795" "1" "00006" "00006" "2012-10-25 16:28:43" "" "" "SEQ" "DNA" "" "" "0000209885" "00208840" "1" "01164" "01164" "2018-12-18 12:11:57" "" "" "SEQ-NG" "DNA" "" "" "0000226792" "00225725" "1" "00006" "00006" "2019-02-23 14:05:19" "" "" "SEQ" "DNA" "" "WES" "0000375853" "00374659" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375854" "00374660" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000415645" "00414365" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000470294" "00468626" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470295" "00468627" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475439" "00473770" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000057756" "ARHGEF10" "0000226792" "SBF1" "0000375853" "ARHGEF10" "0000375854" "ARHGEF10" "0000415645" "ARHGEF10" ## 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 = 174 "{{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}}" "0000088050" "1" "90" "8" "1830835" "1830835" "subst" "0" "00006" "ARHGEF10_000001" "g.1830835C>T" "" "{PMID:Verhoeven 2003:14508709}, {OMIM608136:0001}" "BanI-" "326C>T (g.6110C>T, Thr109Ile)" "linkage analysis (LOD 9.33); not in 600 control chromosomes" "Germline" "" "rs28940281" "0" "" "" "g.1882669C>T" "" "pathogenic" "" "0000246671" "0" "10" "8" "1806229" "1806229" "subst" "0.301873" "02330" "ARHGEF10_000004" "g.1806229A>C" "" "" "" "ARHGEF10(NM_001308153.2):c.213A>C (p.P71=), ARHGEF10(NM_014629.2):c.141A>C (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1858063A>C" "" "benign" "" "0000246673" "0" "10" "8" "1808256" "1808256" "subst" "0.0607305" "02330" "ARHGEF10_000007" "g.1808256A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.459A>G (p.V153=), ARHGEF10(NM_014629.4):c.387A>G (p.V129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1860090A>G" "" "benign" "" "0000246678" "0" "10" "8" "1830928" "1830928" "subst" "0.68851" "02330" "ARHGEF10_000033" "g.1830928A>G" "" "" "" "ARHGEF10(NM_014629.4):c.1075+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882762A>G" "" "benign" "" "0000246679" "0" "10" "8" "1900855" "1900855" "subst" "0.94932" "02330" "ARHGEF10_000028" "g.1900855A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.3470-16A>G, ARHGEF10(NM_014629.4):c.3398-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1952689A>G" "" "benign" "" "0000246692" "0" "10" "8" "1828255" "1828255" "subst" "2.03032E-5" "02330" "ARHGEF10_000009" "g.1828255A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.960A>G (p.K320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1880089A>G" "" "benign" "" "0000246721" "0" "10" "8" "1905823" "1905823" "subst" "0" "02330" "ARHGEF10_000046" "g.1905823A>G" "" "" "" "ARHGEF10(NM_014629.4):c.*394A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1957657A>G" "" "benign" "" "0000246761" "0" "30" "8" "1853769" "1853769" "subst" "0" "02330" "ARHGEF10_000043" "g.1853769A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.1926A>G (p.R642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1905603A>G" "" "likely benign" "" "0000246762" "0" "50" "8" "1842581" "1842581" "subst" "5.27902E-5" "02330" "ARHGEF10_000037" "g.1842581A>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1358A>T (p.E453V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1894415A>T" "" "VUS" "" "0000246770" "0" "50" "8" "1844586" "1844586" "subst" "0.000426586" "02330" "ARHGEF10_000039" "g.1844586A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.1603A>G (p.T535A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1896420A>G" "" "VUS" "" "0000248368" "0" "10" "8" "1808256" "1808256" "subst" "0.0607305" "02325" "ARHGEF10_000007" "g.1808256A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.459A>G (p.V153=), ARHGEF10(NM_014629.4):c.387A>G (p.V129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1860090A>G" "" "benign" "" "0000248438" "0" "10" "8" "1830928" "1830928" "subst" "0.68851" "02325" "ARHGEF10_000033" "g.1830928A>G" "" "" "" "ARHGEF10(NM_014629.4):c.1075+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882762A>G" "" "benign" "" "0000248439" "0" "10" "8" "1900855" "1900855" "subst" "0.94932" "02325" "ARHGEF10_000028" "g.1900855A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.3470-16A>G, ARHGEF10(NM_014629.4):c.3398-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1952689A>G" "" "benign" "" "0000250957" "0" "10" "8" "1806229" "1806229" "subst" "0.301873" "02326" "ARHGEF10_000004" "g.1806229A>C" "" "" "" "ARHGEF10(NM_001308153.2):c.213A>C (p.P71=), ARHGEF10(NM_014629.2):c.141A>C (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1858063A>C" "" "benign" "" "0000256705" "0" "50" "8" "1833765" "1833765" "subst" "0" "01943" "ARHGEF10_000035" "g.1833765A>C" "" "" "" "ARHGEF10(NM_001308153.1):c.1151-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1885599A>C" "" "VUS" "" "0000258287" "0" "10" "8" "1906630" "1906630" "subst" "0" "02330" "ARHGEF10_000032" "g.1906630G>T" "" "" "" "ARHGEF10(NM_014629.4):c.*1201G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1958464G>T" "" "benign" "" "0000258288" "0" "10" "8" "1905728" "1905728" "subst" "0" "02330" "ARHGEF10_000031" "g.1905728G>A" "" "" "" "ARHGEF10(NM_014629.4):c.*299G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1957562G>A" "" "benign" "" "0000258289" "0" "10" "8" "1830794" "1830794" "subst" "0.160459" "02330" "ARHGEF10_000010" "g.1830794G>A" "" "" "" "ARHGEF10(NM_014629.4):c.961-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882628G>A" "" "benign" "" "0000258290" "0" "30" "8" "1830812" "1830812" "subst" "7.13804E-5" "02330" "ARHGEF10_000011" "g.1830812C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1047C>T (p.L349=), ARHGEF10(NM_014629.2):c.972C>T (p.L324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882646C>T" "" "likely benign" "" "0000258291" "0" "10" "8" "1806116" "1806116" "subst" "0.0038789" "02330" "ARHGEF10_000003" "g.1806116T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.110-10T>C, ARHGEF10(NM_014629.2):c.38-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1857950T>C" "" "benign" "" "0000258292" "0" "10" "8" "1806118" "1806122" "del" "0" "02330" "ARHGEF10_000002" "g.1806118_1806122del" "" "" "" "ARHGEF10(NM_001308153.2):c.110-8_110-4delCTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1857952_1857956del" "" "benign" "" "0000258293" "0" "10" "8" "1833801" "1833801" "subst" "0.159511" "02330" "ARHGEF10_000036" "g.1833801G>C" "" "" "" "ARHGEF10(NM_001308153.2):c.1185G>C (p.L395F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1885635G>C" "" "benign" "" "0000258294" "0" "50" "8" "1842694" "1842694" "subst" "0.000170586" "02330" "ARHGEF10_000038" "g.1842694G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.1471G>A (p.E491K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1894528G>A" "" "VUS" "" "0000258295" "0" "10" "8" "1846562" "1846562" "subst" "0.443471" "02330" "ARHGEF10_000041" "g.1846562C>T" "" "" "" "ARHGEF10(NM_014629.4):c.1558-37C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1898396C>T" "" "benign" "" "0000258296" "0" "10" "8" "1844633" "1844633" "del" "0" "02330" "ARHGEF10_000040" "g.1844633del" "" "" "" "ARHGEF10(NM_001308153.2):c.1632+18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1896467del" "" "benign" "" "0000258297" "0" "10" "8" "1846688" "1846688" "subst" "0.0701747" "02330" "ARHGEF10_000042" "g.1846688C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1719C>T (p.L573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1898522C>T" "" "benign" "" "0000258298" "0" "10" "8" "1857548" "1857548" "subst" "0.155958" "02330" "ARHGEF10_000044" "g.1857548T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.2127T>C (p.Y709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909382T>C" "" "benign" "" "0000258299" "0" "10" "8" "1857591" "1857591" "subst" "0.0315516" "02330" "ARHGEF10_000012" "g.1857591G>A" "" "" "" "ARHGEF10(NM_014629.2):c.2098G>A (p.V700I), ARHGEF10(NM_014629.4):c.2098G>A (p.V700I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909425G>A" "" "benign" "" "0000258300" "0" "10" "8" "1857649" "1857649" "subst" "0.252705" "02330" "ARHGEF10_000014" "g.1857649T>G" "" "" "" "ARHGEF10(NM_014629.4):c.2143+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909483T>G" "" "benign" "" "0000258301" "0" "10" "8" "1857629" "1857629" "subst" "0.000166552" "02330" "ARHGEF10_000013" "g.1857629G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2208G>A (p.A736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909463G>A" "" "benign" "" "0000258302" "0" "30" "8" "1871253" "1871253" "subst" "0" "02330" "ARHGEF10_000016" "g.1871253T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.2331+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1923087T>C" "" "likely benign" "" "0000258303" "0" "10" "8" "1873540" "1873540" "subst" "0.0867887" "02330" "ARHGEF10_000019" "g.1873540C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2652C>T (p.P884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1925374C>T" "" "benign" "" "0000258304" "0" "10" "8" "1806329" "1806352" "del" "0" "02330" "ARHGEF10_000005" "g.1806329_1806352del" "" "" "" "ARHGEF10(NM_001308153.2):c.265+48_265+71delGGTGAGTCCCCAGGTGGGTCCCCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1858163_1858186del" "" "benign" "" "0000258305" "0" "10" "8" "1876631" "1876631" "subst" "0.161003" "02330" "ARHGEF10_000020" "g.1876631C>T" "" "" "" "ARHGEF10(NM_014629.4):c.2736C>T (p.I912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928465C>T" "" "benign" "" "0000258306" "0" "10" "8" "1876707" "1876707" "subst" "0.00548603" "02330" "ARHGEF10_000021" "g.1876707G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2884G>A (p.V962I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928541G>A" "" "benign" "" "0000258307" "0" "50" "8" "1876741" "1876741" "del" "4.06101E-6" "02330" "ARHGEF10_000022" "g.1876741del" "" "" "" "ARHGEF10(NM_001308153.2):c.2918delC (p.A973Dfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928575del" "" "VUS" "" "0000258308" "0" "50" "8" "1876747" "1876747" "del" "0" "02330" "ARHGEF10_000023" "g.1876747del" "" "" "" "ARHGEF10(NM_001308153.2):c.2924delC (p.P975Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928581del" "" "VUS" "" "0000258309" "0" "30" "8" "1876762" "1876762" "subst" "0.000296478" "02330" "ARHGEF10_000024" "g.1876762C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2939C>T (p.P980L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928596C>T" "" "likely benign" "" "0000258310" "0" "10" "8" "1877480" "1877480" "subst" "0.0545426" "02330" "ARHGEF10_000026" "g.1877480T>G" "" "" "" "ARHGEF10(NM_014629.4):c.2950T>G (p.S984A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1929314T>G" "" "benign" "" "0000258311" "0" "10" "8" "1893631" "1893631" "subst" "0" "02330" "ARHGEF10_000027" "g.1893631C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.3295-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1945465C>T" "" "benign" "" "0000258312" "0" "10" "8" "1900911" "1900911" "subst" "0.158832" "02330" "ARHGEF10_000029" "g.1900911C>T" "" "" "" "ARHGEF10(NM_014629.4):c.3438C>T (p.H1146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1952745C>T" "" "benign" "" "0000258313" "0" "10" "8" "1905132" "1905132" "subst" "0.38151" "02330" "ARHGEF10_000030" "g.1905132G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3810G>A (p.S1270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1956966G>A" "" "benign" "" "0000258314" "0" "10" "8" "1824915" "1824915" "subst" "0.00203453" "02330" "ARHGEF10_000008" "g.1824915C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.918+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1876749C>T" "" "benign" "" "0000258315" "0" "90" "8" "1830835" "1830835" "subst" "0" "02330" "ARHGEF10_000001" "g.1830835C>T" "" "" "" "ARHGEF10(NM_014629.4):c.995C>T (p.T332I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882669C>T" "" "pathogenic" "" "0000258794" "0" "10" "8" "1857649" "1857649" "subst" "0.252705" "02325" "ARHGEF10_000014" "g.1857649T>G" "" "" "" "ARHGEF10(NM_014629.4):c.2143+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909483T>G" "" "benign" "" "0000261045" "0" "30" "8" "1806116" "1806116" "subst" "0.0038789" "02326" "ARHGEF10_000003" "g.1806116T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.110-10T>C, ARHGEF10(NM_014629.2):c.38-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1857950T>C" "" "likely benign" "" "0000261046" "0" "10" "8" "1857591" "1857591" "subst" "0.0315516" "02326" "ARHGEF10_000012" "g.1857591G>A" "" "" "" "ARHGEF10(NM_014629.2):c.2098G>A (p.V700I), ARHGEF10(NM_014629.4):c.2098G>A (p.V700I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909425G>A" "" "benign" "" "0000261047" "0" "30" "8" "1871118" "1871118" "del" "0" "02326" "ARHGEF10_000015" "g.1871118del" "" "" "" "ARHGEF10(NM_001308153.2):c.2216-12delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1922952del" "" "likely benign" "" "0000261048" "0" "30" "8" "1871253" "1871253" "subst" "0" "02326" "ARHGEF10_000016" "g.1871253T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.2331+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1923087T>C" "" "likely benign" "" "0000261049" "0" "50" "8" "1806273" "1806273" "subst" "1.23665E-5" "02326" "ARHGEF10_000034" "g.1806273C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.257C>T (p.A86V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1858107C>T" "" "VUS" "" "0000261050" "0" "30" "8" "1876707" "1876707" "subst" "0.00548603" "02326" "ARHGEF10_000021" "g.1876707G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2884G>A (p.V962I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928541G>A" "" "likely benign" "" "0000261051" "0" "30" "8" "1876821" "1876821" "subst" "0.001429" "02326" "ARHGEF10_000025" "g.1876821G>C" "" "" "" "ARHGEF10(NM_001308153.1):c.2993+5G>C, ARHGEF10(NM_001308153.2):c.2993+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1928655G>C" "" "likely benign" "" "0000262879" "0" "30" "8" "1806116" "1806116" "subst" "0.0038789" "01943" "ARHGEF10_000003" "g.1806116T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.110-10T>C, ARHGEF10(NM_014629.2):c.38-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1857950T>C" "" "likely benign" "" "0000262880" "0" "10" "8" "1857591" "1857591" "subst" "0.0315516" "01943" "ARHGEF10_000012" "g.1857591G>A" "" "" "" "ARHGEF10(NM_014629.2):c.2098G>A (p.V700I), ARHGEF10(NM_014629.4):c.2098G>A (p.V700I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1909425G>A" "" "benign" "" "0000262881" "0" "30" "8" "1871759" "1871759" "subst" "0.000154621" "01943" "ARHGEF10_000017" "g.1871759C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2457C>T (p.D819=), ARHGEF10(NM_014629.2):c.2385C>T (p.D795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1923593C>T" "" "likely benign" "" "0000262882" "0" "50" "8" "1871948" "1871948" "subst" "1.62426E-5" "01943" "ARHGEF10_000018" "g.1871948G>A" "" "" "" "ARHGEF10(NM_014629.2):c.2396G>A (p.R799Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1923782G>A" "" "VUS" "" "0000262883" "0" "30" "8" "1808127" "1808127" "subst" "1.62438E-5" "01943" "ARHGEF10_000006" "g.1808127G>A" "" "" "" "ARHGEF10(NM_014629.2):c.258G>A (p.P86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1859961G>A" "" "likely benign" "" "0000262884" "0" "30" "8" "1905263" "1905263" "subst" "0.000338323" "01943" "ARHGEF10_000045" "g.1905263C>T" "" "" "" "ARHGEF10(NM_014629.2):c.3869C>T (p.S1290L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1957097C>T" "" "likely benign" "" "0000337395" "0" "10" "8" "1830794" "1830794" "subst" "0.160459" "02327" "ARHGEF10_000010" "g.1830794G>A" "" "" "" "ARHGEF10(NM_014629.4):c.961-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882628G>A" "" "benign" "" "0000337396" "0" "10" "8" "1830928" "1830928" "subst" "0.68851" "02327" "ARHGEF10_000033" "g.1830928A>G" "" "" "" "ARHGEF10(NM_014629.4):c.1075+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1882762A>G" "" "benign" "" "0000440125" "0" "50" "8" "1814750" "1814750" "subst" "1.66275E-5" "01164" "ARHGEF10_000047" "g.1814750A>C" "" "" "" "" "reported in Schahüttl ; 2014. JNeurol 261: 970-82" "Germline" "" "rs767902219" "0" "" "" "g.1866584A>C" "" "VUS" "ACMG" "0000459826" "0" "50" "8" "1808261" "1808261" "subst" "0.00012189" "00006" "ARHGEF10_000048" "g.1808261G>C" "" "{PMID:Nakhro 2013:23749797}" "" "" "" "Germline" "no" "" "0" "" "" "g.1860095G>C" "rs183992684" "VUS" "" "0000459827" "0" "50" "8" "1824881" "1824881" "subst" "0.00127503" "00006" "ARHGEF10_000049" "g.1824881G>A" "1/3 sisters" "{PMID:Nakhro 2013:23749797}" "" "" "" "Germline" "no" "rs145821459" "0" "" "" "g.1876715G>A" "" "VUS" "" "0000459828" "0" "30" "8" "1833801" "1833801" "subst" "0.159511" "00006" "ARHGEF10_000036" "g.1833801G>C" "" "{PMID:Nakhro 2013:23749797}" "" "" "" "Germline" "no" "rs9657362" "0" "" "" "g.1885635G>C" "" "likely benign" "" "0000534398" "0" "30" "8" "1791510" "1791510" "subst" "0" "02330" "ARHGEF10_000050" "g.1791510T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.26-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1843344T>C" "" "likely benign" "" "0000534415" "0" "30" "8" "1806214" "1806214" "subst" "4.46682E-5" "02330" "ARHGEF10_000051" "g.1806214G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.198G>A (p.A66=), ARHGEF10(NM_014629.2):c.126G>A (p.A42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1858048G>A" "" "likely benign" "" "0000534416" "0" "30" "8" "1808224" "1808224" "subst" "0" "01943" "ARHGEF10_000052" "g.1808224C>G" "" "" "" "ARHGEF10(NM_001308153.1):c.427C>G (p.L143V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1860058C>G" "" "likely benign" "" "0000534417" "0" "50" "8" "1808338" "1808338" "subst" "0" "02330" "ARHGEF10_000053" "g.1808338C>G" "" "" "" "ARHGEF10(NM_001308153.2):c.541C>G (p.L181V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1860172C>G" "" "VUS" "" "0000534418" "0" "10" "8" "1814737" "1814737" "subst" "0.0147505" "02330" "ARHGEF10_000054" "g.1814737C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.666C>T (p.A222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1866571C>T" "" "benign" "" "0000534419" "0" "10" "8" "1817367" "1817367" "subst" "0.242061" "02330" "ARHGEF10_000055" "g.1817367G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.705G>A (p.E235=), ARHGEF10(NM_014629.4):c.630G>A (p.E210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1869201G>A" "" "benign" "" "0000534420" "0" "10" "8" "1817367" "1817367" "subst" "0.242061" "02325" "ARHGEF10_000055" "g.1817367G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.705G>A (p.E235=), ARHGEF10(NM_014629.4):c.630G>A (p.E210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1869201G>A" "" "benign" "" "0000534421" "0" "30" "8" "1830923" "1830923" "subst" "3.37186E-5" "02330" "ARHGEF10_000056" "g.1830923C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1150+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1882757C>T" "" "likely benign" "" "0000534422" "0" "10" "8" "1833804" "1833804" "subst" "0.0114085" "02330" "ARHGEF10_000057" "g.1833804C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1188C>T (p.F396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1885638C>T" "" "benign" "" "0000534423" "0" "50" "8" "1842670" "1842670" "subst" "0" "02330" "ARHGEF10_000058" "g.1842670A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.1447A>G (p.I483V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1894504A>G" "" "VUS" "" "0000534424" "0" "10" "8" "1842729" "1842729" "subst" "0.00538513" "02330" "ARHGEF10_000059" "g.1842729C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1506C>T (p.F502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1894563C>T" "" "benign" "" "0000534425" "0" "10" "8" "1842748" "1842748" "subst" "0.00264624" "02330" "ARHGEF10_000060" "g.1842748C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.1515+10C>T, ARHGEF10(NM_001308153.2):c.1515+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1894582C>T" "" "benign" "" "0000534426" "0" "10" "8" "1844633" "1844633" "dup" "0" "02330" "ARHGEF10_000061" "g.1844633dup" "" "" "" "ARHGEF10(NM_001308153.2):c.1632+18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1896467dup" "" "benign" "" "0000534427" "0" "50" "8" "1857498" "1857498" "subst" "1.21818E-5" "02330" "ARHGEF10_000062" "g.1857498T>G" "" "" "" "ARHGEF10(NM_001308153.2):c.2077T>G (p.Y693D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1909332T>G" "" "VUS" "" "0000534428" "0" "30" "8" "1857556" "1857556" "subst" "0.000832467" "02330" "ARHGEF10_000063" "g.1857556G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.2135G>A (p.S712N), ARHGEF10(NM_001308153.2):c.2135G>A (p.S712N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1909390G>A" "" "likely benign" "" "0000534429" "0" "10" "8" "1871114" "1871114" "subst" "0.0615872" "02330" "ARHGEF10_000064" "g.1871114T>G" "" "" "" "ARHGEF10(NM_014629.4):c.2144-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1922948T>G" "" "benign" "" "0000534430" "0" "50" "8" "1871738" "1871738" "subst" "0" "02330" "ARHGEF10_000065" "g.1871738A>C" "" "" "" "ARHGEF10(NM_001308153.2):c.2436A>C (p.L812F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1923572A>C" "" "VUS" "" "0000534431" "0" "50" "8" "1874565" "1874565" "del" "0" "02330" "ARHGEF10_000066" "g.1874565del" "" "" "" "ARHGEF10(NM_001308153.2):c.2705delC (p.P902Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1926399del" "" "VUS" "" "0000534432" "0" "10" "8" "1874648" "1874648" "subst" "0.00115377" "02330" "ARHGEF10_000067" "g.1874648G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2769+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1926482G>A" "" "benign" "" "0000534433" "0" "30" "8" "1876830" "1876830" "subst" "8.17087E-6" "02330" "ARHGEF10_000068" "g.1876830A>C" "" "" "" "ARHGEF10(NM_001308153.2):c.2993+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1928664A>C" "" "likely benign" "" "0000534434" "0" "10" "8" "1876835" "1876835" "subst" "0.00117953" "02330" "ARHGEF10_000069" "g.1876835G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2993+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1928669G>A" "" "benign" "" "0000534435" "0" "30" "8" "1881984" "1881984" "subst" "0.000430418" "02330" "ARHGEF10_000070" "g.1881984A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.3170A>G (p.E1057G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1933818A>G" "" "likely benign" "" "0000534436" "0" "50" "8" "1893760" "1893760" "subst" "3.24931E-5" "02330" "ARHGEF10_000071" "g.1893760G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.3408G>A (p.T1136=), ARHGEF10(NM_001308153.2):c.3408G>A (p.T1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1945594G>A" "" "VUS" "" "0000534437" "0" "30" "8" "1893794" "1893794" "subst" "0.000345368" "02330" "ARHGEF10_000072" "g.1893794G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.3442G>A (p.A1148T), ARHGEF10(NM_001308153.2):c.3442G>A (p.A1148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1945628G>A" "" "likely benign" "" "0000534438" "0" "30" "8" "1904899" "1904899" "subst" "4.07209E-6" "02330" "ARHGEF10_000073" "g.1904899C>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3593-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1956733C>A" "" "likely benign" "" "0000534439" "0" "30" "8" "1904983" "1904983" "subst" "0.000324918" "02330" "ARHGEF10_000074" "g.1904983C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.3661C>T (p.H1221Y), ARHGEF10(NM_014629.2):c.3589C>T (p.H1197Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1956817C>T" "" "likely benign" "" "0000534440" "0" "30" "8" "1905088" "1905088" "subst" "0.000345161" "02330" "ARHGEF10_000075" "g.1905088C>G" "" "" "" "ARHGEF10(NM_001308153.2):c.3766C>G (p.L1256V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1956922C>G" "" "likely benign" "" "0000534441" "0" "10" "8" "1905099" "1905099" "subst" "0.0016203" "02330" "ARHGEF10_000076" "g.1905099T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.3777T>C (p.G1259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1956933T>C" "" "benign" "" "0000534442" "0" "10" "8" "1905309" "1905309" "subst" "0.000709594" "02330" "ARHGEF10_000077" "g.1905309G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3987G>A (p.S1329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1957143G>A" "" "benign" "" "0000534443" "0" "50" "8" "1905341" "1905341" "subst" "0" "02327" "ARHGEF10_000078" "g.1905341G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1957175G>A" "" "VUS" "" "0000611555" "0" "30" "8" "1808270" "1808270" "subst" "0.000829113" "02326" "ARHGEF10_000079" "g.1808270C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.473C>T (p.A158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1860104C>T" "" "likely benign" "" "0000611556" "0" "10" "8" "1853733" "1853733" "subst" "0.00306168" "02330" "ARHGEF10_000080" "g.1853733C>G" "" "" "" "ARHGEF10(NM_001308153.2):c.1894-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1905567C>G" "" "benign" "" "0000622033" "0" "30" "8" "1808270" "1808270" "subst" "0.000829113" "02330" "ARHGEF10_000079" "g.1808270C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.473C>T (p.A158V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1860104C>T" "" "likely benign" "" "0000622034" "0" "10" "8" "1873461" "1873461" "subst" "0.00105993" "02330" "ARHGEF10_000081" "g.1873461A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.2573A>G (p.H858R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1925295A>G" "" "benign" "" "0000622035" "0" "30" "8" "1904955" "1904955" "subst" "0" "02330" "ARHGEF10_000082" "g.1904955C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.3633C>T (p.V1211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1956789C>T" "" "likely benign" "" "0000656060" "0" "30" "8" "1876821" "1876821" "subst" "0.001429" "02330" "ARHGEF10_000025" "g.1876821G>C" "" "" "" "ARHGEF10(NM_001308153.1):c.2993+5G>C, ARHGEF10(NM_001308153.2):c.2993+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1928655G>C" "" "likely benign" "" "0000678349" "0" "30" "8" "1876766" "1876766" "subst" "0" "02330" "ARHGEF10_000083" "g.1876766C>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2943C>A (p.A981=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690221" "0" "30" "8" "1871183" "1871183" "subst" "0.00107335" "02330" "ARHGEF10_000084" "g.1871183C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2269C>T (p.H757Y), ARHGEF10(NM_014629.2):c.2197C>T (p.H733Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690222" "0" "30" "8" "1893676" "1893676" "subst" "0" "02330" "ARHGEF10_000085" "g.1893676C>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3324C>A (p.G1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721896" "0" "50" "8" "1806248" "1806248" "subst" "4.47296E-5" "02330" "ARHGEF10_000086" "g.1806248G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.232G>A (p.G78S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721897" "0" "30" "8" "1808078" "1808078" "subst" "4.06365E-6" "01943" "ARHGEF10_000087" "g.1808078C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.281C>T (p.A94V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721898" "0" "10" "8" "1833831" "1833831" "subst" "0.00099494" "02330" "ARHGEF10_000088" "g.1833831A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.1215A>G (p.E405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721899" "0" "30" "8" "1844621" "1844621" "subst" "0.00013486" "01943" "ARHGEF10_000089" "g.1844621C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.1632+6C>T, ARHGEF10(NM_001308153.2):c.1632+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721900" "0" "30" "8" "1857556" "1857556" "subst" "0.000832467" "01943" "ARHGEF10_000063" "g.1857556G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.2135G>A (p.S712N), ARHGEF10(NM_001308153.2):c.2135G>A (p.S712N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721901" "0" "30" "8" "1857556" "1857556" "subst" "0.000832467" "02326" "ARHGEF10_000063" "g.1857556G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.2135G>A (p.S712N), ARHGEF10(NM_001308153.2):c.2135G>A (p.S712N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721902" "0" "30" "8" "1871759" "1871759" "subst" "0.000154621" "02330" "ARHGEF10_000017" "g.1871759C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2457C>T (p.D819=), ARHGEF10(NM_014629.2):c.2385C>T (p.D795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721903" "0" "30" "8" "1876586" "1876586" "subst" "0.000414318" "02330" "ARHGEF10_000090" "g.1876586G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2770-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721904" "0" "30" "8" "1876821" "1876821" "subst" "0.001429" "01943" "ARHGEF10_000025" "g.1876821G>C" "" "" "" "ARHGEF10(NM_001308153.1):c.2993+5G>C, ARHGEF10(NM_001308153.2):c.2993+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721905" "0" "50" "8" "1905361" "1905361" "subst" "0" "02330" "ARHGEF10_000091" "g.1905361C>G" "" "" "" "ARHGEF10(NM_014629.4):c.3967C>G (p.R1323G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787204" "0" "50" "8" "1808087" "1808087" "subst" "0" "00006" "ARHGEF10_000092" "g.1808087A>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.1859921A>C" "" "VUS" "" "0000787205" "0" "50" "8" "1900912" "1900912" "subst" "0" "00006" "ARHGEF10_000093" "g.1900912G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs1212009927" "0" "" "" "g.1952746G>A" "" "VUS" "" "0000803573" "0" "30" "8" "1791501" "1791501" "subst" "1.25289E-5" "02330" "ARHGEF10_000094" "g.1791501T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.26-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803575" "0" "10" "8" "1905367" "1905367" "subst" "0.00186486" "02330" "ARHGEF10_000095" "g.1905367C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.4045C>T (p.P1349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851877" "0" "30" "8" "1806227" "1806227" "subst" "0.000109656" "01943" "ARHGEF10_000096" "g.1806227C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.211C>T (p.P71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851878" "0" "30" "8" "1842748" "1842748" "subst" "0.00264624" "01943" "ARHGEF10_000060" "g.1842748C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.1515+10C>T, ARHGEF10(NM_001308153.2):c.1515+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851879" "0" "30" "8" "1846673" "1846673" "subst" "0" "02330" "ARHGEF10_000097" "g.1846673G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.1704G>A (p.Q568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851880" "0" "30" "8" "1877605" "1877605" "subst" "0.00015227" "01943" "ARHGEF10_000099" "g.1877605C>G" "" "" "" "ARHGEF10(NM_001308153.1):c.3147C>G (p.A1049=), ARHGEF10(NM_001308153.2):c.3147C>G (p.A1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851881" "0" "50" "8" "1893794" "1893794" "subst" "0.000345368" "01943" "ARHGEF10_000072" "g.1893794G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.3442G>A (p.A1148T), ARHGEF10(NM_001308153.2):c.3442G>A (p.A1148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851882" "0" "50" "8" "1905140" "1905140" "subst" "1.62446E-5" "02330" "ARHGEF10_000102" "g.1905140C>T" "" "" "" "ARHGEF10(NM_014629.4):c.3746C>T (p.S1249L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861158" "0" "30" "8" "1876804" "1876804" "subst" "0.000540571" "02326" "ARHGEF10_000098" "g.1876804C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2981C>T (p.T994M), ARHGEF10(NM_014629.2):c.2909C>T (p.T970M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861159" "0" "30" "8" "1893760" "1893760" "subst" "3.24931E-5" "01943" "ARHGEF10_000071" "g.1893760G>A" "" "" "" "ARHGEF10(NM_001308153.1):c.3408G>A (p.T1136=), ARHGEF10(NM_001308153.2):c.3408G>A (p.T1136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861160" "0" "30" "8" "1904906" "1904906" "subst" "0" "01943" "ARHGEF10_000100" "g.1904906C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.3593-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861161" "0" "10" "8" "1905048" "1905048" "subst" "0.000869014" "01943" "ARHGEF10_000101" "g.1905048C>A" "" "" "" "ARHGEF10(NM_001308153.1):c.3726C>A (p.D1242E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000873485" "0" "70" "8" "1824881" "1824881" "subst" "0.00127503" "00000" "ARHGEF10_000049" "g.1824881G>A" "132" "{PMID:Sun 2018:30076350}" "" "ARHGEF10 (NM_014629.2):c.824G>A(p.R275H); PMP22(NM_153322.1):whole gene duplication" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1876715G>A" "" "likely pathogenic" "" "0000888259" "0" "30" "8" "1791592" "1791592" "subst" "8.99582E-5" "02330" "ARHGEF10_000103" "g.1791592C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.99C>T (p.P33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888260" "0" "30" "8" "1830812" "1830812" "subst" "7.13804E-5" "02326" "ARHGEF10_000011" "g.1830812C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1047C>T (p.L349=), ARHGEF10(NM_014629.2):c.972C>T (p.L324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888261" "0" "30" "8" "1830927" "1830928" "ins" "0" "02326" "ARHGEF10_000104" "g.1830927_1830928insGGGTCTTCTTGC" "" "" "" "ARHGEF10(NM_001308153.2):c.1150+12_1150+13insGGGTCTTCTTGC, ARHGEF10(NM_014629.2):c.1075+12_1075+13insGGGTCTTCTTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888262" "0" "50" "8" "1853758" "1853758" "subst" "0" "02330" "ARHGEF10_000105" "g.1853758T>A" "" "" "" "ARHGEF10(NM_001308153.2):c.1915T>A (p.Y639N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888263" "0" "30" "8" "1871183" "1871183" "subst" "0.00107335" "02326" "ARHGEF10_000084" "g.1871183C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2269C>T (p.H757Y), ARHGEF10(NM_014629.2):c.2197C>T (p.H733Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888264" "0" "30" "8" "1871759" "1871759" "subst" "0.000154621" "02326" "ARHGEF10_000017" "g.1871759C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2457C>T (p.D819=), ARHGEF10(NM_014629.2):c.2385C>T (p.D795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888265" "0" "50" "8" "1876677" "1876677" "subst" "4.06055E-6" "02330" "ARHGEF10_000106" "g.1876677G>A" "" "" "" "ARHGEF10(NM_014629.4):c.2782G>A (p.V928M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888266" "0" "30" "8" "1893837" "1893837" "subst" "0.000138689" "02330" "ARHGEF10_000107" "g.1893837G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3469+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888267" "0" "30" "8" "1905088" "1905088" "subst" "8.12143E-6" "02326" "ARHGEF10_000108" "g.1905088C>A" "" "" "" "ARHGEF10(NM_014629.2):c.3694C>A (p.L1232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888268" "0" "30" "8" "1905157" "1905157" "subst" "0.000511733" "02330" "ARHGEF10_000109" "g.1905157G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3835G>A (p.D1279N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888269" "0" "10" "8" "1905222" "1905222" "subst" "0.000759965" "02330" "ARHGEF10_000110" "g.1905222A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.3900A>G (p.S1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912925" "0" "50" "8" "1791575" "1791575" "subst" "8.1716E-6" "02330" "ARHGEF10_000111" "g.1791575C>T" "" "" "" "ARHGEF10(NM_014629.4):c.10C>T (p.R4*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912926" "0" "50" "8" "1808126" "1808126" "subst" "2.43651E-5" "02330" "ARHGEF10_000112" "g.1808126C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.329C>T (p.P110L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912927" "0" "50" "8" "1828268" "1828268" "subst" "4.06072E-6" "02330" "ARHGEF10_000113" "g.1828268T>G" "" "" "" "ARHGEF10(NM_001308153.2):c.973T>G (p.L325V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912928" "0" "10" "8" "1830927" "1830928" "ins" "0" "02330" "ARHGEF10_000104" "g.1830927_1830928insGGGTCTTCTTGC" "" "" "" "ARHGEF10(NM_001308153.2):c.1150+12_1150+13insGGGTCTTCTTGC, ARHGEF10(NM_014629.2):c.1075+12_1075+13insGGGTCTTCTTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912929" "0" "50" "8" "1882056" "1882056" "subst" "1.62422E-5" "02330" "ARHGEF10_000114" "g.1882056C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.3242C>T (p.A1081V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912930" "0" "50" "8" "1905362" "1905362" "subst" "2.0803E-5" "02330" "ARHGEF10_000115" "g.1905362G>A" "" "" "" "ARHGEF10(NM_014629.4):c.3968G>A (p.R1323Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924852" "0" "30" "8" "1808162" "1808162" "subst" "7.71561E-5" "02330" "ARHGEF10_000116" "g.1808162C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.365C>T (p.T122M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924853" "0" "30" "8" "1853799" "1853799" "subst" "5.2791E-5" "02330" "ARHGEF10_000117" "g.1853799C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.1956C>T (p.N652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924854" "0" "30" "8" "1876804" "1876804" "subst" "0.000540571" "02330" "ARHGEF10_000098" "g.1876804C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2981C>T (p.T994M), ARHGEF10(NM_014629.2):c.2909C>T (p.T970M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929431" "0" "50" "8" "1871989" "1871989" "subst" "3.65497E-5" "02330" "ARHGEF10_000118" "g.1871989G>T" "" "" "" "ARHGEF10(NM_014629.4):c.2437G>T (p.A813S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929432" "0" "30" "8" "1873526" "1873526" "subst" "0.000276156" "02330" "ARHGEF10_000119" "g.1873526G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2638G>A (p.V880I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929433" "0" "50" "8" "1900903" "1900903" "subst" "6.92165E-5" "02330" "ARHGEF10_000120" "g.1900903G>A" "" "" "" "ARHGEF10(NM_014629.4):c.3430G>A (p.V1144I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949053" "0" "30" "8" "1844621" "1844621" "subst" "0.00013486" "02330" "ARHGEF10_000089" "g.1844621C>T" "" "" "" "ARHGEF10(NM_001308153.1):c.1632+6C>T, ARHGEF10(NM_001308153.2):c.1632+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949054" "0" "50" "8" "1904992" "1904992" "subst" "4.06131E-6" "02330" "ARHGEF10_000121" "g.1904992G>C" "" "" "" "ARHGEF10(NM_001308153.2):c.3670G>C (p.D1224H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964936" "0" "10" "8" "1806090" "1806093" "del" "0" "02329" "ARHGEF10_000122" "g.1806090_1806093del" "" "" "" "ARHGEF10(NM_001308153.2):c.110-36_110-33delATCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964937" "0" "30" "8" "1841758" "1841758" "subst" "0.00752387" "02330" "ARHGEF10_000123" "g.1841758T>C" "" "" "" "ARHGEF10(NM_001308153.2):c.1281T>C (p.G427=), ARHGEF10(NM_014629.4):c.1206T>C (p.G402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964938" "0" "30" "8" "1857599" "1857599" "subst" "1.21829E-5" "02330" "ARHGEF10_000124" "g.1857599G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.2178G>A (p.P726=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964939" "0" "30" "8" "1871183" "1871183" "subst" "0.00107335" "02327" "ARHGEF10_000084" "g.1871183C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.2269C>T (p.H757Y), ARHGEF10(NM_014629.2):c.2197C>T (p.H733Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964940" "0" "10" "8" "1876650" "1876650" "subst" "0.00221305" "02330" "ARHGEF10_000125" "g.1876650A>C" "" "" "" "ARHGEF10(NM_001308153.2):c.2827A>C (p.T943P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964941" "0" "50" "8" "1882010" "1882010" "subst" "1.62422E-5" "02330" "ARHGEF10_000126" "g.1882010G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.3196G>A (p.V1066I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964942" "0" "30" "8" "1904983" "1904983" "subst" "0.000324918" "02326" "ARHGEF10_000074" "g.1904983C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.3661C>T (p.H1221Y), ARHGEF10(NM_014629.2):c.3589C>T (p.H1197Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964943" "0" "10" "8" "1905354" "1905354" "subst" "0.00186105" "02330" "ARHGEF10_000127" "g.1905354G>C" "" "" "" "ARHGEF10(NM_001308153.2):c.4032G>C (p.R1344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978150" "0" "30" "8" "1806214" "1806214" "subst" "4.46682E-5" "02326" "ARHGEF10_000051" "g.1806214G>A" "" "" "" "ARHGEF10(NM_001308153.2):c.198G>A (p.A66=), ARHGEF10(NM_014629.2):c.126G>A (p.A42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978151" "0" "30" "8" "1873453" "1873453" "subst" "7.30976E-5" "01804" "ARHGEF10_000128" "g.1873453G>A" "" "" "" "ARHGEF10(NM_014629.4):c.2493G>A (p.(Glu831=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978152" "0" "10" "8" "1900992" "1900992" "subst" "0.00110949" "02330" "ARHGEF10_000129" "g.1900992C>T" "" "" "" "ARHGEF10(NM_001308153.2):c.3591C>T (p.T1197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000997085" "0" "50" "8" "1882008" "1882008" "subst" "0" "02327" "ARHGEF10_000130" "g.1882008G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014430" "0" "50" "8" "1844536" "1844536" "subst" "8.12189E-6" "02330" "ARHGEF10_000131" "g.1844536A>G" "" "" "" "ARHGEF10(NM_001308153.2):c.1553A>G (p.Y518C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014431" "0" "30" "8" "1877605" "1877605" "subst" "0.00015227" "02330" "ARHGEF10_000099" "g.1877605C>G" "" "" "" "ARHGEF10(NM_001308153.1):c.3147C>G (p.A1049=), ARHGEF10(NM_001308153.2):c.3147C>G (p.A1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014432" "0" "10" "8" "1900903" "1900903" "subst" "0.000215793" "02330" "ARHGEF10_000132" "g.1900903G>T" "" "" "" "ARHGEF10(NM_014629.4):c.3430G>T (p.V1144F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025505" "0" "30" "8" "1841767" "1841767" "subst" "0" "02330" "ARHGEF10_000133" "g.1841767C>A" "" "" "" "ARHGEF10(NM_001308153.2):c.1290C>A (p.V430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025506" "0" "50" "8" "1844569" "1844569" "subst" "0" "02327" "ARHGEF10_000134" "g.1844569T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036897" "0" "50" "8" "1833871" "1833871" "subst" "0" "01804" "ARHGEF10_000135" "g.1833871C>T" "" "" "" "ARHGEF10(NM_014629.4):c.1180C>T (p.(Gln394*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058416" "0" "70" "8" "1824749" "1824750" "del" "0" "00006" "ARHGEF10_000136" "g.1824749_1824750del" "" "{PMID:Retterer 2016:26633542}" "" "692_693delAT" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.1876583_1876584del" "" "likely pathogenic" "" "0001058417" "0" "70" "8" "1842737" "1842737" "subst" "4.0709E-5" "00006" "ARHGEF10_000137" "g.1842737C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.1894571C>T" "" "likely pathogenic" "" "0001069834" "0" "50" "8" "1808212" "1808212" "subst" "0" "00006" "ARHGEF10_000138" "g.1808212G>T" "" "{PMID:Molaei 2025:41315541}" "" "NM_001308153.2:c.415G>T" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.1860046G>T" "SCV001167083" "VUS" "ACMG" ## 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 ARHGEF10 ## Count = 174 "{{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}}" "0000088050" "00002816" "90" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Thr332Ile)" "10" "0000246671" "00002816" "10" "141" "0" "141" "0" "c.141A>C" "r.(?)" "p.(Pro47=)" "" "0000246673" "00002816" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Val129=)" "" "0000246678" "00002816" "10" "1075" "13" "1075" "13" "c.1075+13A>G" "r.(=)" "p.(=)" "" "0000246679" "00002816" "10" "3398" "-16" "3398" "-16" "c.3398-16A>G" "r.(=)" "p.(=)" "" "0000246692" "00002816" "10" "885" "0" "885" "0" "c.885A>G" "r.(?)" "p.(Lys295=)" "" "0000246721" "00002816" "10" "4429" "0" "4429" "0" "c.*394A>G" "r.(=)" "p.(=)" "" "0000246761" "00002816" "30" "1854" "0" "1854" "0" "c.1854A>G" "r.(?)" "p.(Arg618=)" "" "0000246762" "00002816" "50" "1283" "0" "1283" "0" "c.1283A>T" "r.(?)" "p.(Glu428Val)" "" "0000246770" "00002816" "50" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Thr510Ala)" "" "0000248368" "00002816" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Val129=)" "" "0000248438" "00002816" "10" "1075" "13" "1075" "13" "c.1075+13A>G" "r.(=)" "p.(=)" "" "0000248439" "00002816" "10" "3398" "-16" "3398" "-16" "c.3398-16A>G" "r.(=)" "p.(=)" "" "0000250957" "00002816" "10" "141" "0" "141" "0" "c.141A>C" "r.(?)" "p.(Pro47=)" "" "0000256705" "00002816" "50" "1076" "-2" "1076" "-2" "c.1076-2A>C" "r.spl?" "p.?" "" "0000258287" "00002816" "10" "5236" "0" "5236" "0" "c.*1201G>T" "r.(=)" "p.(=)" "" "0000258288" "00002816" "10" "4334" "0" "4334" "0" "c.*299=" "r.(=)" "p.(=)" "" "0000258289" "00002816" "10" "961" "-7" "961" "-7" "c.961-7G>A" "r.(=)" "p.(=)" "" "0000258290" "00002816" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Leu324=)" "" "0000258291" "00002816" "10" "38" "-10" "38" "-10" "c.38-10T>C" "r.(=)" "p.(=)" "" "0000258292" "00002816" "10" "38" "-8" "38" "-4" "c.38-8_38-4del" "r.spl?" "p.?" "" "0000258293" "00002816" "10" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.(Leu370Phe)" "" "0000258294" "00002816" "50" "1396" "0" "1396" "0" "c.1396G>A" "r.(?)" "p.(Glu466Lys)" "" "0000258295" "00002816" "10" "1558" "-37" "1558" "-37" "c.1558-37C>T" "r.(=)" "p.(=)" "" "0000258296" "00002816" "10" "1557" "18" "1557" "18" "c.1557+18del" "r.(=)" "p.(=)" "" "0000258297" "00002816" "10" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Leu549=)" "" "0000258298" "00002816" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Tyr685=)" "" "0000258299" "00002816" "10" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Val700Ile)" "" "0000258300" "00002816" "10" "2143" "13" "2143" "13" "c.2143+13T>G" "r.(=)" "p.(=)" "" "0000258301" "00002816" "10" "2136" "0" "2136" "0" "c.2136G>A" "r.(?)" "p.(Ala712=)" "" "0000258302" "00002816" "30" "2259" "8" "2259" "8" "c.2259+8T>C" "r.(=)" "p.(=)" "" "0000258303" "00002816" "10" "2580" "0" "2580" "0" "c.2580C>T" "r.(?)" "p.(Pro860=)" "" "0000258304" "00002816" "10" "193" "48" "193" "71" "c.193+48_193+71del" "r.(=)" "p.(=)" "" "0000258305" "00002816" "10" "2736" "0" "2736" "0" "c.2736C>T" "r.(?)" "p.(Ile912=)" "" "0000258306" "00002816" "10" "2812" "0" "2812" "0" "c.2812G>A" "r.(?)" "p.(Val938Ile)" "" "0000258307" "00002816" "50" "2846" "0" "2846" "0" "c.2846del" "r.(?)" "p.(Ala949AspfsTer10)" "" "0000258308" "00002816" "50" "2852" "0" "2852" "0" "c.2852del" "r.(?)" "p.(Pro951ArgfsTer8)" "" "0000258309" "00002816" "30" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Pro956Leu)" "" "0000258310" "00002816" "10" "2950" "0" "2950" "0" "c.2950T>G" "r.(?)" "p.(Ser984Ala)" "" "0000258311" "00002816" "10" "3223" "-16" "3223" "-16" "c.3223-16C>T" "r.(=)" "p.(=)" "" "0000258312" "00002816" "10" "3438" "0" "3438" "0" "c.3438C>T" "r.(?)" "p.(His1146=)" "" "0000258313" "00002816" "10" "3738" "0" "3738" "0" "c.3738G>A" "r.(?)" "p.(Ser1246=)" "" "0000258314" "00002816" "10" "843" "15" "843" "15" "c.843+15C>T" "r.(=)" "p.(=)" "" "0000258315" "00002816" "90" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Thr332Ile)" "" "0000258794" "00002816" "10" "2143" "13" "2143" "13" "c.2143+13T>G" "r.(=)" "p.(=)" "" "0000261045" "00002816" "30" "38" "-10" "38" "-10" "c.38-10T>C" "r.(=)" "p.(=)" "" "0000261046" "00002816" "10" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Val700Ile)" "" "0000261047" "00002816" "30" "2144" "-12" "2144" "-12" "c.2144-12del" "r.(=)" "p.(=)" "" "0000261048" "00002816" "30" "2259" "8" "2259" "8" "c.2259+8T>C" "r.(=)" "p.(=)" "" "0000261049" "00002816" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ala62Val)" "" "0000261050" "00002816" "30" "2812" "0" "2812" "0" "c.2812G>A" "r.(?)" "p.(Val938Ile)" "" "0000261051" "00002816" "30" "2921" "5" "2921" "5" "c.2921+5G>C" "r.spl?" "p.?" "" "0000262879" "00002816" "30" "38" "-10" "38" "-10" "c.38-10T>C" "r.(=)" "p.(=)" "" "0000262880" "00002816" "10" "2098" "0" "2098" "0" "c.2098G>A" "r.(?)" "p.(Val700Ile)" "" "0000262881" "00002816" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Asp795=)" "" "0000262882" "00002816" "50" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Arg799Gln)" "" "0000262883" "00002816" "30" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Pro86=)" "" "0000262884" "00002816" "30" "3869" "0" "3869" "0" "c.3869C>T" "r.(?)" "p.(Ser1290Leu)" "" "0000337395" "00002816" "10" "961" "-7" "961" "-7" "c.961-7G>A" "r.(=)" "p.(=)" "" "0000337396" "00002816" "10" "1075" "13" "1075" "13" "c.1075+13A>G" "r.(=)" "p.(=)" "" "0000440125" "00002816" "50" "604" "0" "604" "0" "c.604A>C" "r.(?)" "p.Asn202His" "" "0000459826" "00002816" "50" "392" "0" "392" "0" "c.392G>C" "r.(?)" "p.(Cys131Ser)" "" "0000459827" "00002816" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0000459828" "00002816" "30" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.(Leu370Phe)" "" "0000534398" "00002816" "30" "-47" "-9" "-47" "-9" "c.-47-9T>C" "r.(=)" "p.(=)" "" "0000534415" "00002816" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Ala42=)" "" "0000534416" "00002816" "30" "355" "0" "355" "0" "c.355C>G" "r.(?)" "p.(Leu119Val)" "" "0000534417" "00002816" "50" "469" "0" "469" "0" "c.469C>G" "r.(?)" "p.(Leu157Val)" "" "0000534418" "00002816" "10" "591" "0" "591" "0" "c.591C>T" "r.(?)" "p.(Ala197=)" "" "0000534419" "00002816" "10" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Glu210=)" "" "0000534420" "00002816" "10" "630" "0" "630" "0" "c.630G>A" "r.(?)" "p.(Glu210=)" "" "0000534421" "00002816" "30" "1075" "8" "1075" "8" "c.1075+8C>T" "r.(=)" "p.(=)" "" "0000534422" "00002816" "10" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Phe371=)" "" "0000534423" "00002816" "50" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "0000534424" "00002816" "10" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(Phe477=)" "" "0000534425" "00002816" "10" "1440" "10" "1440" "10" "c.1440+10C>T" "r.(=)" "p.(=)" "" "0000534426" "00002816" "10" "1557" "18" "1557" "18" "c.1557+18dup" "r.(=)" "p.(=)" "" "0000534427" "00002816" "50" "2005" "0" "2005" "0" "c.2005T>G" "r.(?)" "p.(Tyr669Asp)" "" "0000534428" "00002816" "30" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Ser688Asn)" "" "0000534429" "00002816" "10" "2144" "-16" "2144" "-16" "c.2144-16T>G" "r.(=)" "p.(=)" "" "0000534430" "00002816" "50" "2364" "0" "2364" "0" "c.2364A>C" "r.(?)" "p.(Leu788Phe)" "" "0000534431" "00002816" "50" "2633" "0" "2633" "0" "c.2633del" "r.(?)" "p.(Pro878LeufsTer5)" "" "0000534432" "00002816" "10" "2697" "19" "2697" "19" "c.2697+19G>A" "r.(=)" "p.(=)" "" "0000534433" "00002816" "30" "2921" "14" "2921" "14" "c.2921+14A>C" "r.(=)" "p.(=)" "" "0000534434" "00002816" "10" "2921" "19" "2921" "19" "c.2921+19G>A" "r.(=)" "p.(=)" "" "0000534435" "00002816" "30" "3098" "0" "3098" "0" "c.3098A>G" "r.(?)" "p.(Glu1033Gly)" "" "0000534436" "00002816" "50" "3336" "0" "3336" "0" "c.3336G>A" "r.(?)" "p.(Thr1112=)" "" "0000534437" "00002816" "30" "3370" "0" "3370" "0" "c.3370G>A" "r.(?)" "p.(Ala1124Thr)" "" "0000534438" "00002816" "30" "3521" "-16" "3521" "-16" "c.3521-16C>A" "r.(=)" "p.(=)" "" "0000534439" "00002816" "30" "3589" "0" "3589" "0" "c.3589C>T" "r.(?)" "p.(His1197Tyr)" "" "0000534440" "00002816" "30" "3694" "0" "3694" "0" "c.3694C>G" "r.(?)" "p.(Leu1232Val)" "" "0000534441" "00002816" "10" "3705" "0" "3705" "0" "c.3705T>C" "r.(?)" "p.(Gly1235=)" "" "0000534442" "00002816" "10" "3915" "0" "3915" "0" "c.3915G>A" "r.(?)" "p.(Ser1305=)" "" "0000534443" "00002816" "50" "3947" "0" "3947" "0" "c.3947G>A" "r.(?)" "p.(Arg1316His)" "" "0000611555" "00002816" "30" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Ala134Val)" "" "0000611556" "00002816" "10" "1822" "-4" "1822" "-4" "c.1822-4C>G" "r.spl?" "p.?" "" "0000622033" "00002816" "30" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Ala134Val)" "" "0000622034" "00002816" "10" "2501" "0" "2501" "0" "c.2501A>G" "r.(?)" "p.(His834Arg)" "" "0000622035" "00002816" "30" "3561" "0" "3561" "0" "c.3561C>T" "r.(?)" "p.(Val1187=)" "" "0000656060" "00002816" "30" "2921" "5" "2921" "5" "c.2921+5G>C" "r.spl?" "p.?" "" "0000678349" "00002816" "30" "2871" "0" "2871" "0" "c.2871C>A" "r.(?)" "p.(Ala957=)" "" "0000690221" "00002816" "30" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(His733Tyr)" "" "0000690222" "00002816" "30" "3252" "0" "3252" "0" "c.3252C>A" "r.(?)" "p.(Gly1084=)" "" "0000721896" "00002816" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Gly54Ser)" "" "0000721897" "00002816" "30" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Ala70Val)" "" "0000721898" "00002816" "10" "1140" "0" "1140" "0" "c.1140A>G" "r.(?)" "p.(Glu380=)" "" "0000721899" "00002816" "30" "1557" "6" "1557" "6" "c.1557+6C>T" "r.(=)" "p.(=)" "" "0000721900" "00002816" "30" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Ser688Asn)" "" "0000721901" "00002816" "30" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Ser688Asn)" "" "0000721902" "00002816" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Asp795=)" "" "0000721903" "00002816" "30" "2698" "-7" "2698" "-7" "c.2698-7G>A" "r.(=)" "p.(=)" "" "0000721904" "00002816" "30" "2921" "5" "2921" "5" "c.2921+5G>C" "r.spl?" "p.?" "" "0000721905" "00002816" "50" "3967" "0" "3967" "0" "c.3967C>G" "r.(?)" "p.(Arg1323Gly)" "" "0000787204" "00002816" "50" "218" "0" "218" "0" "c.218A>C" "r.(?)" "p.(Glu73Ala)" "4" "0000787205" "00002816" "50" "3439" "0" "3439" "0" "c.3439G>A" "r.(?)" "p.(Gly1147Arg)" "28" "0000803573" "00002816" "30" "-47" "-18" "-47" "-18" "c.-47-18T>C" "r.(=)" "p.(=)" "" "0000803575" "00002816" "10" "3973" "0" "3973" "0" "c.3973C>T" "r.(?)" "p.(Pro1325Ser)" "" "0000851877" "00002816" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Pro47Ser)" "" "0000851878" "00002816" "30" "1440" "10" "1440" "10" "c.1440+10C>T" "r.(=)" "p.(=)" "" "0000851879" "00002816" "30" "1632" "0" "1632" "0" "c.1632G>A" "r.(?)" "p.(Gln544=)" "" "0000851880" "00002816" "30" "3075" "0" "3075" "0" "c.3075C>G" "r.(?)" "p.(Ala1025=)" "" "0000851881" "00002816" "50" "3370" "0" "3370" "0" "c.3370G>A" "r.(?)" "p.(Ala1124Thr)" "" "0000851882" "00002816" "50" "3746" "0" "3746" "0" "c.3746C>T" "r.(?)" "p.(Ser1249Leu)" "" "0000861158" "00002816" "30" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Met)" "" "0000861159" "00002816" "30" "3336" "0" "3336" "0" "c.3336G>A" "r.(?)" "p.(Thr1112=)" "" "0000861160" "00002816" "30" "3521" "-9" "3521" "-9" "c.3521-9C>T" "r.(=)" "p.(=)" "" "0000861161" "00002816" "10" "3654" "0" "3654" "0" "c.3654C>A" "r.(?)" "p.(Asp1218Glu)" "" "0000873485" "00002816" "70" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0000888259" "00002816" "30" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Pro9=)" "" "0000888260" "00002816" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Leu324=)" "" "0000888261" "00002816" "30" "1075" "12" "1075" "13" "c.1075+12_1075+13insGGGTCTTCTTGC" "r.(=)" "p.(=)" "" "0000888262" "00002816" "50" "1843" "0" "1843" "0" "c.1843T>A" "r.(?)" "p.(Tyr615Asn)" "" "0000888263" "00002816" "30" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(His733Tyr)" "" "0000888264" "00002816" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Asp795=)" "" "0000888265" "00002816" "50" "2782" "0" "2782" "0" "c.2782G>A" "r.(?)" "p.(Val928Met)" "" "0000888266" "00002816" "30" "3397" "16" "3397" "16" "c.3397+16G>A" "r.(=)" "p.(=)" "" "0000888267" "00002816" "30" "3694" "0" "3694" "0" "c.3694C>A" "r.(?)" "p.(Leu1232Met)" "" "0000888268" "00002816" "30" "3763" "0" "3763" "0" "c.3763G>A" "r.(?)" "p.(Asp1255Asn)" "" "0000888269" "00002816" "10" "3828" "0" "3828" "0" "c.3828A>G" "r.(?)" "p.(Ser1276=)" "" "0000912925" "00002816" "50" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Arg4*)" "" "0000912926" "00002816" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000912927" "00002816" "50" "898" "0" "898" "0" "c.898T>G" "r.(?)" "p.(Leu300Val)" "" "0000912928" "00002816" "10" "1075" "12" "1075" "13" "c.1075+12_1075+13insGGGTCTTCTTGC" "r.(=)" "p.(=)" "" "0000912929" "00002816" "50" "3170" "0" "3170" "0" "c.3170C>T" "r.(?)" "p.(Ala1057Val)" "" "0000912930" "00002816" "50" "3968" "0" "3968" "0" "c.3968G>A" "r.(?)" "p.(Arg1323Gln)" "" "0000924852" "00002816" "30" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Thr98Met)" "" "0000924853" "00002816" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Asn628=)" "" "0000924854" "00002816" "30" "2909" "0" "2909" "0" "c.2909C>T" "r.(?)" "p.(Thr970Met)" "" "0000929431" "00002816" "50" "2437" "0" "2437" "0" "c.2437G>T" "r.(?)" "p.(Ala813Ser)" "" "0000929432" "00002816" "30" "2566" "0" "2566" "0" "c.2566G>A" "r.(?)" "p.(Val856Ile)" "" "0000929433" "00002816" "50" "3430" "0" "3430" "0" "c.3430G>A" "r.(?)" "p.(Val1144Ile)" "" "0000949053" "00002816" "30" "1557" "6" "1557" "6" "c.1557+6C>T" "r.(=)" "p.(=)" "" "0000949054" "00002816" "50" "3598" "0" "3598" "0" "c.3598G>C" "r.(?)" "p.(Asp1200His)" "" "0000964936" "00002816" "10" "38" "-36" "38" "-33" "c.38-36_38-33del" "r.(=)" "p.(=)" "" "0000964937" "00002816" "30" "1206" "0" "1206" "0" "c.1206T>C" "r.(?)" "p.(=)" "" "0000964938" "00002816" "30" "2106" "0" "2106" "0" "c.2106G>A" "r.(?)" "p.(=)" "" "0000964939" "00002816" "30" "2197" "0" "2197" "0" "c.2197C>T" "r.(?)" "p.(His733Tyr)" "" "0000964940" "00002816" "10" "2755" "0" "2755" "0" "c.2755A>C" "r.(?)" "p.(Thr919Pro)" "" "0000964941" "00002816" "50" "3124" "0" "3124" "0" "c.3124G>A" "r.(?)" "p.(Val1042Ile)" "" "0000964942" "00002816" "30" "3589" "0" "3589" "0" "c.3589C>T" "r.(?)" "p.(His1197Tyr)" "" "0000964943" "00002816" "10" "3960" "0" "3960" "0" "c.3960G>C" "r.(?)" "p.(Arg1320Ser)" "" "0000978150" "00002816" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Ala42=)" "" "0000978151" "00002816" "30" "2493" "0" "2493" "0" "c.2493G>A" "r.(?)" "p.(=)" "" "0000978152" "00002816" "10" "3519" "0" "3519" "0" "c.3519C>T" "r.(?)" "p.(=)" "" "0000997085" "00002816" "50" "3122" "0" "3122" "0" "c.3122G>C" "r.(?)" "p.(Gly1041Ala)" "" "0001014430" "00002816" "50" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Tyr493Cys)" "" "0001014431" "00002816" "30" "3075" "0" "3075" "0" "c.3075C>G" "r.(?)" "p.(Ala1025=)" "" "0001014432" "00002816" "10" "3430" "0" "3430" "0" "c.3430G>T" "r.(?)" "p.(Val1144Phe)" "" "0001025505" "00002816" "30" "1215" "0" "1215" "0" "c.1215C>A" "r.(?)" "p.(=)" "" "0001025506" "00002816" "50" "1511" "0" "1511" "0" "c.1511T>G" "r.(?)" "p.(Leu504Arg)" "" "0001036897" "00002816" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Gln394*)" "" "0001058416" "00002816" "70" "692" "0" "693" "0" "c.692_693del" "r.(?)" "p.(Tyr231Ter)" "" "0001058417" "00002816" "70" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ser480Leu)" "" "0001069834" "00002816" "50" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Glu115*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000057756" "0000088050" "0000209885" "0000440125" "0000226792" "0000459826" "0000226792" "0000459827" "0000226792" "0000459828" "0000375853" "0000787204" "0000375854" "0000787205" "0000415645" "0000873485" "0000470294" "0001058416" "0000470295" "0001058417" "0000475439" "0001069834"