### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RALGAPA1) # 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}}" "RALGAPA1" "Ral GTPase activating protein, alpha subunit 1 (catalytic)" "14" "q13.2" "unknown" "NG_051667.1" "UD_132319773232" "" "https://www.LOVD.nl/RALGAPA1" "" "1" "17770" "253959" "608884" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-02-02 21:11:14" "00006" "2026-02-06 10:56:59" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00017391" "RALGAPA1" "transcript variant 1" "002" "NM_014990.1" "" "NP_055805.1" "" "" "" "-391" "7473" "6111" "36278432" "36007558" "" "0000-00-00 00:00:00" "" "" "00025494" "RALGAPA1" "transcript variant 2" "001" "NM_194301.2" "" "NP_919277.2" "" "" "" "-391" "7442" "6252" "36278432" "36007558" "00006" "2020-02-02 21:14:08" "" "" ## 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}}" "03511" "DKCA3" "dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3)" "AD" "613990" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06253" "NEDHRIT" "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" "AR" "618797" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RALGAPA1" "06253" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00281802" "" "" "" "1" "" "00006" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Germany" "" "0" "" "" "" "FamA" "00281803" "" "" "" "2" "" "00006" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Palestine" "" "0" "" "" "" "FamB" "00281804" "" "" "" "1" "" "00006" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "Germany;Ireland" "" "0" "" "" "" "FamC" "00281805" "" "" "" "1" "" "00006" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamD" "00466405" "" "" "" "1" "" "04653" "{PMID:Severa 2023:37743183}" "" "M" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00281802" "05611" "00281803" "03511" "00281804" "05611" "00281805" "05611" "00466405" "06253" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03511, 05611, 06253 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000216380" "05611" "00281802" "00006" "Familial, autosomal recessive" "4y6m" "severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; no spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes; infantile spasms; MRI-brain focal thinning of corpus callosum, gray matter heterotopias; dry skin and hypohidrosis; bilateral cataract; normal heart; normal lungs; feeding difficulties, gastrostomy tube; bilateral vesicoureteric reflux grade II; recurrent fever/frequent viral infections; drop foot; craniofacial features thick eyebrows, deep-set eyes, short nasal bridge with anteverted nares, large mouth with prominent lower lip, protruding tongue; gingival hyperplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000216381" "03511" "00281803" "00006" "Familial, autosomal recessive" "8m" "severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes ; no seizures; MRI-brain focal thinning of corpus callosum, thin pituitary stalk, global brain atrophy; normal skin; no cataract; normal heart; tracheostomy; feeding difficulties, nasogastric tube; normal urinary tract; recurrent fever/frequent viral infections; normal limbs; bushy eyebrows, low anterior hairline; mild hepatomegaly" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000216382" "05611" "00281804" "00006" "Familial, autosomal recessive" "1y6m" "severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; no spasticity; reduced upper limb tendon reflexes, reduced lower limb tendon reflexes ; infantile spasms; MRI-brain focal thinning of corpus callosum, ectopic pituitary; normal skin; cortical vision impairment, no cataracts; normal heart; laryngomalacia, oxygen by nasal canula during sleep; feeding difficulties, gastrostomy tube; normal urinary tract; no recurrent fever/frequent viral infections; soft tissue syndactyly of fingers 3 and 4 bilaterally, partial; flat occiput, brachycephaly, high anterior hair line with frontal balding, tall forehead, full cheeks, medial eyebrow flare, left epicanthal fold, pointed superior helices ears, upturned nasal tip" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000216383" "05611" "00281805" "00006" "Familial, autosomal recessive" "1y5m" "severely delayed motor development; no speech development; profound muscular hypotonia; poor head control; spasticity; increased upper limb/lower limb tendon reflexes ; infantile spasms; MRI-brain focal thinning of corpus callosum; normal skin; suspected cortical vision impairment (not confirmed); mild tricuspid valve regurgitation, mild mitral valve regurgitation; mild tricuspid valve regurgitation, mild mitral valve regurgitation; feeding difficulties, gastrostomy tube, gastro-esophageal reflux; vesicoureteric reflux, right grade III/IV and left grade III; recurrent fever/frequent viral infections; syndactyly of toes 2, 3, and 4; horizontal eyebrows, low-set ears, depressed nasal bridge, large mouth with prominent lips, slight retrognathia; gingival hyperplasia" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000351769" "06253" "00466405" "04653" "Isolated (sporadic)" "" "Motor delay * Exercise intolerance * Muscular hypotonia * Congenital myopathy" "" "" "" "" "" "" "" "NEDHRIT" "Congenital myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000282948" "00281802" "1" "00006" "00006" "2020-02-03 19:33:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000282949" "00281803" "1" "00006" "00006" "2020-02-03 19:33:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000282950" "00281804" "1" "00006" "00006" "2020-02-03 19:33:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000282951" "00281805" "1" "00006" "00006" "2020-02-03 19:33:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468068" "00466405" "1" "04653" "04653" "2025-08-27 13:39:01" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000282948" "RALGAPA1" "0000282949" "RALGAPA1" "0000282950" "RALGAPA1" "0000282951" "RALGAPA1" ## 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 = 33 "{{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}}" "0000323652" "0" "50" "14" "36155806" "36155806" "subst" "0.000147632" "01804" "RALGAPA1_000003" "g.36155806T>A" "" "" "" "RALGAPA1(NM_014990.1):c.2501A>T (p.(Asn834Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35686600T>A" "" "VUS" "" "0000323653" "0" "50" "14" "36155818" "36155818" "subst" "0.000151545" "01804" "RALGAPA1_000004" "g.36155818C>G" "" "" "" "RALGAPA1(NM_014990.1):c.2489G>C (p.(Gly830Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35686612C>G" "" "VUS" "" "0000638685" "11" "90" "14" "36217916" "36217916" "subst" "0" "00006" "RALGAPA1_000007" "g.36217916G>A" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "" "" "Germline" "" "" "0" "" "" "g.35748710G>A" "" "pathogenic (recessive)" "" "0000638686" "3" "90" "14" "36096645" "36096645" "del" "0" "00006" "RALGAPA1_000009" "g.36096645del" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "4992delT" "" "Germline" "" "" "0" "" "" "g.35627439del" "" "pathogenic (recessive)" "" "0000638687" "3" "90" "14" "36226052" "36226052" "subst" "0" "00006" "RALGAPA1_000010" "g.36226052C>A" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "" "" "Germline" "" "" "0" "" "" "g.35756846C>A" "" "pathogenic (recessive)" "" "0000638688" "3" "90" "14" "36041884" "36041884" "subst" "0" "00006" "RALGAPA1_000006" "g.36041884G>C" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "" "" "Germline" "" "" "0" "" "" "g.35572678G>C" "" "pathogenic (recessive)" "" "0000638689" "21" "70" "14" "36143795" "36143795" "subst" "0" "00006" "RALGAPA1_000008" "g.36143795T>C" "" "{PMID:Wagner 2020:32004447}, {DOI:Wagner 2020:10.1016/j.ajhg.2020.01.002}" "" "" "" "Germline" "" "" "0" "" "" "g.35674589T>C" "" "likely pathogenic (recessive)" "" "0000724762" "0" "50" "14" "36008777" "36008777" "subst" "1.62776E-5" "01943" "INSM2_000001" "g.36008777G>A" "" "" "" "RALGAPA1(NM_001346247.1):c.6367C>T (p.R2123C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806398" "0" "50" "14" "36217850" "36217850" "subst" "3.32397E-5" "02325" "RALGAPA1_000011" "g.36217850G>A" "" "" "" "RALGAPA1(NM_014990.3):c.1192C>T (p.R398C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925872" "0" "50" "14" "36159069" "36159069" "subst" "0.000104791" "02325" "RALGAPA1_000012" "g.36159069C>T" "" "" "" "RALGAPA1(NM_014990.3):c.2407G>A (p.E803K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925873" "0" "50" "14" "36211597" "36211597" "subst" "0.0021389" "02325" "RALGAPA1_000013" "g.36211597C>G" "" "" "" "RALGAPA1(NM_014990.3):c.1426G>C (p.E476Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980889" "0" "30" "14" "36008779" "36008779" "subst" "0.000809984" "01804" "INSM2_000002" "g.36008779C>T" "" "" "" "RALGAPA1(NM_001346246.2):c.6224G>A (p.(Arg2075His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980890" "0" "50" "14" "36133933" "36133933" "subst" "4.07807E-6" "01804" "RALGAPA1_000014" "g.36133933A>G" "" "" "" "RALGAPA1(NM_001346249.2):c.5243T>C (p.(Val1748Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980891" "0" "50" "14" "36158165" "36158165" "subst" "0" "01804" "RALGAPA1_000015" "g.36158165T>G" "" "" "" "RALGAPA1(NM_001346249.2):c.3452A>C (p.(His1151Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980892" "0" "50" "14" "36158540" "36158540" "subst" "0" "01804" "RALGAPA1_000016" "g.36158540T>A" "" "" "" "RALGAPA1(NM_001346249.2):c.3077A>T (p.(Asp1026Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980893" "0" "50" "14" "36158556" "36158556" "subst" "0" "01804" "RALGAPA1_000017" "g.36158556C>T" "" "" "" "RALGAPA1(NM_001346249.2):c.3061G>A (p.(Ala1021Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980894" "0" "70" "14" "36192311" "36192311" "del" "0" "01804" "RALGAPA1_000018" "g.36192311del" "" "" "" "RALGAPA1(NM_001346249.2):c.2027del (p.(Asn676IlefsTer15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980895" "0" "50" "14" "36197612" "36197612" "subst" "4.31757E-6" "01804" "RALGAPA1_000019" "g.36197612A>C" "" "" "" "RALGAPA1(NM_001346249.2):c.1692T>G (p.(Ile564Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039953" "0" "50" "14" "36039859" "36039859" "subst" "2.06683E-5" "01804" "RALGAPA1_000020" "g.36039859C>T" "" "" "" "RALGAPA1(NM_001346249.2):c.7460G>A (p.(Arg2487His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039954" "0" "30" "14" "36039956" "36039956" "subst" "9.69413E-5" "01804" "RALGAPA1_000021" "g.36039956T>G" "" "" "" "RALGAPA1(NM_001346249.2):c.7369-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039955" "0" "50" "14" "36140644" "36140644" "subst" "0" "01804" "RALGAPA1_000022" "g.36140644A>T" "" "" "" "RALGAPA1(NM_001346249.2):c.5153T>A (p.(Met1718Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039956" "0" "50" "14" "36157958" "36157958" "subst" "0" "01804" "RALGAPA1_000023" "g.36157958G>A" "" "" "" "RALGAPA1(NM_001346249.2):c.3659C>T (p.(Thr1220Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039957" "0" "50" "14" "36158012" "36158012" "subst" "0" "01804" "RALGAPA1_000024" "g.36158012C>T" "" "" "" "RALGAPA1(NM_001346249.2):c.3605G>A (p.(Ser1202Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039958" "0" "50" "14" "36158716" "36158716" "subst" "0" "01804" "RALGAPA1_000025" "g.36158716T>C" "" "" "" "RALGAPA1(NM_001346249.2):c.2901A>G (p.(Glu967=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039959" "0" "50" "14" "36207855" "36207855" "subst" "0" "01804" "RALGAPA1_000026" "g.36207855T>G" "" "" "" "RALGAPA1(NM_001346249.2):c.1451A>C (p.(Glu484Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047537" "0" "90" "14" "35542620" "36942496" "del" "0" "04653" "RALGAPA1_000034" "g.35542620_36942496del" "" "{PMID:Severa 2023:37743183}" "" "" "" "De novo" "" "" "0" "" "" "g.35073414_36473291del" "" "pathogenic" "ACMG" "0001054814" "0" "50" "14" "36018427" "36018427" "subst" "4.06699E-6" "01804" "RALGAPA1_000027" "g.36018427C>T" "" "" "" "RALGAPA1(NM_001346249.2):c.7510G>A (p.(Ala2504Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054815" "0" "50" "14" "36096533" "36096533" "subst" "0.000624638" "01804" "RALGAPA1_000028" "g.36096533A>G" "" "" "" "RALGAPA1(NM_001346249.2):c.6620T>C (p.(Ile2207Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054816" "0" "30" "14" "36154358" "36154358" "subst" "5.95214E-5" "01804" "RALGAPA1_000029" "g.36154358G>A" "" "" "" "RALGAPA1(NM_001346249.2):c.4078-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054817" "0" "50" "14" "36155837" "36155837" "subst" "2.47748E-5" "01804" "RALGAPA1_000030" "g.36155837G>C" "" "" "" "RALGAPA1(NM_001346249.2):c.3988C>G (p.(Leu1330Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054818" "0" "50" "14" "36157824" "36157824" "subst" "0" "01804" "RALGAPA1_000031" "g.36157824G>A" "" "" "" "RALGAPA1(NM_001346249.2):c.3793C>T (p.(Gln1265*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054819" "0" "50" "14" "36158267" "36158267" "subst" "0" "01804" "RALGAPA1_000032" "g.36158267G>A" "" "" "" "RALGAPA1(NM_001346249.2):c.3350C>T (p.(Thr1117Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066060" "0" "30" "14" "36153160" "36153160" "subst" "8.17074E-6" "02325" "RALGAPA1_000033" "g.36153160C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 RALGAPA1 ## Count = 60 "{{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}}" "0000323652" "00025494" "50" "2501" "0" "2501" "0" "c.2501A>T" "r.(?)" "p.(Asn834Ile)" "" "0000323652" "00017391" "50" "2501" "0" "2501" "0" "c.2501A>T" "r.(?)" "p.(Asn834Ile)" "" "0000323653" "00025494" "50" "2489" "0" "2489" "0" "c.2489G>C" "r.(?)" "p.(Gly830Ala)" "" "0000323653" "00017391" "50" "2489" "0" "2489" "0" "c.2489G>C" "r.(?)" "p.(Gly830Ala)" "" "0000638685" "00025494" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Arg376*)" "" "0000638686" "00025494" "90" "4992" "0" "4992" "0" "c.4992del" "r.(?)" "p.(Phe1664Leufs*11)" "" "0000638687" "00025494" "90" "610" "0" "610" "0" "c.610G>T" "r.(?)" "p.(Glu204*)" "" "0000638688" "00025494" "90" "5732" "0" "5732" "0" "c.5732C>G" "r.(?)" "p.(Ser1911*)" "" "0000638689" "00025494" "70" "3227" "0" "3227" "0" "c.3227A>G" "r.(?)" "p.(Asn1076Ser)" "" "0000724762" "00025494" "50" "6223" "0" "6223" "0" "c.6223C>T" "r.(?)" "p.(Arg2075Cys)" "" "0000724762" "00017391" "50" "6254" "0" "6254" "0" "c.*143C>T" "r.(=)" "p.(=)" "" "0000806398" "00025494" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000806398" "00017391" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000925872" "00025494" "50" "2407" "0" "2407" "0" "c.2407G>A" "r.(?)" "p.(Glu803Lys)" "" "0000925872" "00017391" "50" "2407" "0" "2407" "0" "c.2407G>A" "r.(?)" "p.(Glu803Lys)" "" "0000925873" "00025494" "50" "1426" "0" "1426" "0" "c.1426G>C" "r.(?)" "p.(Glu476Gln)" "" "0000925873" "00017391" "50" "1426" "0" "1426" "0" "c.1426G>C" "r.(?)" "p.(Glu476Gln)" "" "0000980889" "00025494" "30" "6221" "0" "6221" "0" "c.6221G>A" "r.(?)" "p.(Arg2074His)" "" "0000980889" "00017391" "30" "6252" "0" "6252" "0" "c.*141G>A" "r.(=)" "p.(=)" "" "0000980890" "00025494" "50" "3725" "0" "3725" "0" "c.3725T>C" "r.(?)" "p.(Val1242Ala)" "" "0000980890" "00017391" "50" "3725" "0" "3725" "0" "c.3725T>C" "r.(?)" "p.(Val1242Ala)" "" "0000980891" "00025494" "50" "2434" "877" "2434" "877" "c.2434+877A>C" "r.(=)" "p.(=)" "" "0000980891" "00017391" "50" "2434" "877" "2434" "877" "c.2434+877A>C" "r.(=)" "p.(=)" "" "0000980892" "00025494" "50" "2434" "502" "2434" "502" "c.2434+502A>T" "r.(=)" "p.(=)" "" "0000980892" "00017391" "50" "2434" "502" "2434" "502" "c.2434+502A>T" "r.(=)" "p.(=)" "" "0000980893" "00025494" "50" "2434" "486" "2434" "486" "c.2434+486G>A" "r.(=)" "p.(=)" "" "0000980893" "00017391" "50" "2434" "486" "2434" "486" "c.2434+486G>A" "r.(=)" "p.(=)" "" "0000980894" "00025494" "70" "2027" "0" "2027" "0" "c.2027del" "r.(?)" "p.(Asn676Ilefs*15)" "" "0000980894" "00017391" "70" "2027" "0" "2027" "0" "c.2027del" "r.(?)" "p.(Asn676Ilefs*15)" "" "0000980895" "00025494" "50" "1692" "0" "1692" "0" "c.1692T>G" "r.(?)" "p.(Ile564Met)" "" "0000980895" "00017391" "50" "1692" "0" "1692" "0" "c.1692T>G" "r.(?)" "p.(Ile564Met)" "" "0001039953" "00025494" "50" "5942" "0" "5942" "0" "c.5942G>A" "r.(?)" "p.(Arg1981His)" "" "0001039953" "00017391" "50" "5942" "0" "5942" "0" "c.5942G>A" "r.(?)" "p.(Arg1981His)" "" "0001039954" "00025494" "30" "5851" "-6" "5851" "-6" "c.5851-6A>C" "r.(=)" "p.(=)" "" "0001039954" "00017391" "30" "5851" "-6" "5851" "-6" "c.5851-6A>C" "r.(=)" "p.(=)" "" "0001039955" "00025494" "50" "3635" "0" "3635" "0" "c.3635T>A" "r.(?)" "p.(Met1212Lys)" "" "0001039955" "00017391" "50" "3635" "0" "3635" "0" "c.3635T>A" "r.(?)" "p.(Met1212Lys)" "" "0001039956" "00025494" "50" "2434" "1084" "2434" "1084" "c.2434+1084C>T" "r.(=)" "p.(=)" "" "0001039956" "00017391" "50" "2434" "1084" "2434" "1084" "c.2434+1084C>T" "r.(=)" "p.(=)" "" "0001039957" "00025494" "50" "2434" "1030" "2434" "1030" "c.2434+1030G>A" "r.(=)" "p.(=)" "" "0001039957" "00017391" "50" "2434" "1030" "2434" "1030" "c.2434+1030G>A" "r.(=)" "p.(=)" "" "0001039958" "00025494" "50" "2434" "326" "2434" "326" "c.2434+326A>G" "r.(=)" "p.(=)" "" "0001039958" "00017391" "50" "2434" "326" "2434" "326" "c.2434+326A>G" "r.(=)" "p.(=)" "" "0001039959" "00025494" "50" "1451" "0" "1451" "0" "c.1451A>C" "r.(?)" "p.(Glu484Ala)" "" "0001039959" "00017391" "50" "1451" "0" "1451" "0" "c.1451A>C" "r.(?)" "p.(Glu484Ala)" "" "0001047537" "00025494" "90" "-664455" "0" "472380" "0" "c.-664455_*466128del" "r.0" "p.0" "" "0001054814" "00025494" "50" "5992" "0" "5992" "0" "c.5992G>A" "r.(?)" "p.(Ala1998Thr)" "" "0001054814" "00017391" "50" "5992" "0" "5992" "0" "c.5992G>A" "r.(?)" "p.(Ala1998Thr)" "" "0001054815" "00025494" "50" "5102" "0" "5102" "0" "c.5102T>C" "r.(?)" "p.(Ile1701Thr)" "" "0001054815" "00017391" "50" "5102" "0" "5102" "0" "c.5102T>C" "r.(?)" "p.(Ile1701Thr)" "" "0001054816" "00025494" "30" "2560" "-7" "2560" "-7" "c.2560-7C>T" "r.(=)" "p.(=)" "" "0001054816" "00017391" "30" "2560" "-7" "2560" "-7" "c.2560-7C>T" "r.(=)" "p.(=)" "" "0001054817" "00025494" "50" "2470" "0" "2470" "0" "c.2470C>G" "r.(?)" "p.(Leu824Val)" "" "0001054817" "00017391" "50" "2470" "0" "2470" "0" "c.2470C>G" "r.(?)" "p.(Leu824Val)" "" "0001054818" "00025494" "50" "2434" "1218" "2434" "1218" "c.2434+1218C>T" "r.(=)" "p.(=)" "" "0001054818" "00017391" "50" "2434" "1218" "2434" "1218" "c.2434+1218C>T" "r.(=)" "p.(=)" "" "0001054819" "00025494" "50" "2434" "775" "2434" "775" "c.2434+775C>T" "r.(=)" "p.(=)" "" "0001054819" "00017391" "50" "2434" "775" "2434" "775" "c.2434+775C>T" "r.(=)" "p.(=)" "" "0001066060" "00025494" "30" "2808" "0" "2808" "0" "c.2808G>A" "r.(?)" "p.(=)" "" "0001066060" "00017391" "30" "2808" "0" "2808" "0" "c.2808G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000282948" "0000638685" "0000282948" "0000638689" "0000282949" "0000638686" "0000282950" "0000638687" "0000282951" "0000638688" "0000468068" "0001047537"