### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARHGAP31) # 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}}" "ARHGAP31" "Rho GTPase activating protein 31" "3" "q13.33" "unknown" "NG_007665.2" "UD_132118738159" "" "http://www.LOVD.nl/ARHGAP31" "" "1" "29216" "57514" "610911" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ARHGAP31_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-02-08 21:06:38" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002795" "ARHGAP31" "Rho GTPase activating protein 31" "001" "NM_020754.2" "" "NP_065805.2" "" "" "" "-532" "7547" "4335" "119013220" "119138323" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00137" "AOS1" "Adams-Oliver syndrome, type 1 (AOS1)" "AD" "100300" "" "" "" "00006" "2013-05-28 22:59:49" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04179" "AOS" "Adams-Oliver syndrome (AOS)" "" "" "" "" "" "00006" "2015-02-07 15:59:17" "00006" "2015-03-13 12:45:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ARHGAP31" "00137" "ARHGAP31" "00139" ## 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}}" "00029803" "" "" "" "8" "" "00006" "{PMID:Southgate 2011:21565291}, {DOI:Southgate 2011:10.1016/j.ajhg.2011.04.013}" "21565291-Fam2PatII3\r\n5-generation family, >8 affecteds (5F, 3M), patient III.1" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00029804" "" "" "" "5" "" "00006" "{PMID:Southgate 2011:21565291}, {DOI:Southgate 2011:10.1016/j.ajhg.2011.04.013}" "5-generation family, >5 affecteds (4F, M), 1 unaffected carrier" "" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00029805" "" "" "" "4" "" "00006" "{PMID:Southgate 2011:21565291}, {DOI:Southgate 2011:10.1016/j.ajhg.2011.04.013}" "" "-" "-" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050563" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00448552" "" "" "" "3" "" "04672" "" "" "" "" "" "" "" "" "" "" "04672" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00029803" "04179" "00029804" "04179" "00029805" "00000" "00050563" "00198" "00448552" "00137" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00137, 00139, 00198, 04179 ## Count = 4 "{{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}}" "0000025776" "04179" "00029803" "00006" "Familial, autosomal dominant" "" "see paper; aplasia cutis congenita, bony defect/abnormal fontanelle, terminal transverse limb defects, syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000025777" "04179" "00029804" "00006" "Familial, autosomal dominant" "" "see paper; aplasia cutis congenita, bony defect/abnormal fontanelle, terminal transverse limb defects, syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000037175" "00198" "00050563" "00006" "Isolated (sporadic)" "" "bilateral microphthalmos, deeply set eye, micropenis, bilateral retinal coloboma, conductive hearing impairment, global developmental delay, bilateral cryptorchidism, broad-based gait, brachycephaly, supernumerary nipples, hyperextensibility of the finger joints" "" "" "" "" "" "" "" "" "" "" "" "0000337726" "00137" "00448552" "04672" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "AOS1" "" "" ## 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}}" "0000029846" "00029803" "1" "00006" "00006" "2015-02-08 21:17:48" "" "" "SEQ" "DNA" "" "" "0000029847" "00029804" "1" "00006" "00006" "2015-02-08 21:23:10" "" "" "SEQ" "DNA" "" "" "0000029848" "00029805" "1" "00006" "00006" "2015-02-08 21:29:16" "" "" "SEQ" "DNA" "" "" "0000050508" "00050563" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000450142" "00448552" "1" "04672" "04672" "2024-04-08 14:44:57" "" "" "SEQ-NG-I" "DNA" "Blood" "Clinical Exome Solution v2 (SOPHiA GENETICS, Lausanne, CH)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000029846" "ARHGAP31" "0000029847" "ARHGAP31" "0000029848" "ARHGAP31" "0000050508" "ARHGAP31" ## 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 = 78 "{{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}}" "0000055938" "1" "90" "3" "119132823" "119132823" "subst" "0" "00006" "ARHGAP31_000001" "g.119132823C>T" "" "{PMID:Southgate 2011:21565291}, {DOI:Southgate 2011:10.1016/j.ajhg.2011.04.013}, {OMIM610911:0001}" "" "" "not in >2000 control chromosomes" "Germline" "yes" "rs387907031" "0" "" "" "g.119413976C>T" "" "pathogenic" "" "0000055939" "1" "90" "3" "119134036" "119134036" "del" "0" "00006" "ARHGAP31_000002" "g.119134036del" "" "{PMID:Southgate 2011:21565291}, {DOI:Southgate 2011:10.1016/j.ajhg.2011.04.013}, {OMIM610911:0001}" "" "" "not in >2000 control chromosomes" "Germline" "yes" "" "0" "" "" "g.119415189del" "" "pathogenic" "" "0000055940" "0" "30" "3" "119132956" "119132956" "subst" "0.000483728" "00006" "ARHGAP31_000003" "g.119132956C>T" "4/2362 chromosomes" "{PMID:Southgate 2011:21565291}, {DOI:Southgate 2011:10.1016/j.ajhg.2011.04.013}" "" "" "2/43 sporadic ACC/TTLD individuals, 2/1138 controls" "Germline" "no" "" "0" "" "" "g.119414109C>T" "" "likely benign" "" "0000079488" "0" "90" "3" "119133903" "119133903" "subst" "0" "00006" "ARHGAP31_000004" "g.119133903G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.119415056G>A" "" "pathogenic" "" "0000248523" "0" "10" "3" "119118104" "119118104" "subst" "0.999968" "02325" "ARHGAP31_000007" "g.119118104A>G" "" "" "" "ARHGAP31(NM_020754.4):c.1065A>G (p.V355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119399257A>G" "" "benign" "" "0000249016" "0" "10" "3" "119128628" "119128628" "subst" "0.623757" "02325" "ARHGAP31_000010" "g.119128628A>G" "" "" "" "ARHGAP31(NM_020754.4):c.1926+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119409781A>G" "" "benign" "" "0000259135" "0" "10" "3" "119128398" "119128398" "subst" "0.168723" "02325" "ARHGAP31_000009" "g.119128398G>A" "" "" "" "ARHGAP31(NM_020754.4):c.1701G>A (p.P567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119409551G>A" "" "benign" "" "0000259136" "0" "10" "3" "119128634" "119128634" "subst" "0.525853" "02325" "ARHGAP31_000011" "g.119128634T>C" "" "" "" "ARHGAP31(NM_020754.4):c.1926+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119409787T>C" "" "benign" "" "0000259137" "0" "10" "3" "119133183" "119133183" "subst" "0.805322" "02325" "ARHGAP31_000012" "g.119133183G>A" "" "" "" "ARHGAP31(NM_020754.4):c.2407G>A (p.G803S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119414336G>A" "" "benign" "" "0000517444" "0" "30" "3" "119084271" "119084271" "subst" "0.000795251" "01943" "ARHGAP31_000014" "g.119084271C>T" "" "" "" "ARHGAP31(NM_020754.3):c.203+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119365424C>T" "" "likely benign" "" "0000517448" "0" "30" "3" "119101210" "119101210" "subst" "2.43675E-5" "02325" "ARHGAP31_000018" "g.119101210G>A" "" "" "" "ARHGAP31(NM_020754.4):c.503G>A (p.R168Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119382363G>A" "" "likely benign" "" "0000517449" "0" "30" "3" "119109769" "119109769" "subst" "0.00365542" "01804" "ARHGAP31_000019" "g.119109769C>T" "" "" "" "ARHGAP31(NM_020754.2):c.820C>T (p.(Pro274Ser)), ARHGAP31(NM_020754.4):c.820C>T (p.P274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119390922C>T" "" "likely benign" "" "0000517450" "0" "10" "3" "119109769" "119109769" "subst" "0.00365542" "02325" "ARHGAP31_000019" "g.119109769C>T" "" "" "" "ARHGAP31(NM_020754.2):c.820C>T (p.(Pro274Ser)), ARHGAP31(NM_020754.4):c.820C>T (p.P274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119390922C>T" "" "benign" "" "0000517452" "0" "30" "3" "119120866" "119120866" "subst" "5.68773E-5" "01804" "ARHGAP31_000021" "g.119120866G>C" "" "" "" "ARHGAP31(NM_020754.2):c.1267G>C (p.(Ala423Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119402019G>C" "" "likely benign" "" "0000517454" "0" "30" "3" "119121001" "119121001" "subst" "1.21891E-5" "01943" "ARHGAP31_000023" "g.119121001A>G" "" "" "" "ARHGAP31(NM_020754.3):c.1402A>G (p.S468G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119402154A>G" "" "likely benign" "" "0000517455" "0" "30" "3" "119121138" "119121138" "subst" "2.44298E-5" "01943" "ARHGAP31_000024" "g.119121138G>A" "" "" "" "ARHGAP31(NM_020754.3):c.1539G>A (p.P513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119402291G>A" "" "likely benign" "" "0000517457" "0" "30" "3" "119132956" "119132956" "subst" "0.000483728" "02325" "ARHGAP31_000003" "g.119132956C>T" "" "" "" "ARHGAP31(NM_020754.4):c.2180C>T (p.T727I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119414109C>T" "" "likely benign" "" "0000517458" "0" "30" "3" "119133099" "119133099" "subst" "6.91912E-5" "01804" "ARHGAP31_000026" "g.119133099G>A" "" "" "" "ARHGAP31(NM_020754.2):c.2323G>A (p.(Gly775Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119414252G>A" "" "likely benign" "" "0000517463" "0" "70" "3" "119133666" "119133666" "subst" "0" "02327" "ARHGAP31_000030" "g.119133666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119414819C>T" "" "likely pathogenic" "" "0000517464" "0" "30" "3" "119134220" "119134220" "subst" "1.22666E-5" "01943" "ARHGAP31_000031" "g.119134220T>A" "" "" "" "ARHGAP31(NM_020754.3):c.3444T>A (p.S1148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119415373T>A" "" "likely benign" "" "0000517466" "0" "30" "3" "119134578" "119134578" "subst" "0.000622837" "01804" "ARHGAP31_000033" "g.119134578G>A" "" "" "" "ARHGAP31(NM_020754.2):c.3802G>A (p.(Gly1268Arg)), ARHGAP31(NM_020754.4):c.3802G>A (p.G1268R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119415731G>A" "" "likely benign" "" "0000517467" "0" "30" "3" "119134578" "119134578" "subst" "0.000622837" "02325" "ARHGAP31_000033" "g.119134578G>A" "" "" "" "ARHGAP31(NM_020754.2):c.3802G>A (p.(Gly1268Arg)), ARHGAP31(NM_020754.4):c.3802G>A (p.G1268R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119415731G>A" "" "likely benign" "" "0000517468" "0" "30" "3" "119134658" "119134658" "subst" "0.000126007" "01943" "ARHGAP31_000034" "g.119134658G>A" "" "" "" "ARHGAP31(NM_020754.3):c.3882G>A (p.S1294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119415811G>A" "" "likely benign" "" "0000608219" "0" "30" "3" "119102053" "119102053" "subst" "0.00166506" "01804" "ARHGAP31_000037" "g.119102053C>T" "" "" "" "ARHGAP31(NM_020754.2):c.662C>T (p.(Pro221Leu)), ARHGAP31(NM_020754.3):c.662C>T (p.P221L), ARHGAP31(NM_020754.4):c.662C>T (p.P221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119383206C>T" "" "likely benign" "" "0000608220" "0" "30" "3" "119134842" "119134842" "subst" "0" "01804" "ARHGAP31_000040" "g.119134842A>G" "" "" "" "ARHGAP31(NM_020754.2):c.4066A>G (p.(Ile1356Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119415995A>G" "" "likely benign" "" "0000621153" "0" "30" "3" "119099744" "119099744" "subst" "0.00162058" "01943" "ARHGAP31_000036" "g.119099744T>G" "" "" "" "ARHGAP31(NM_020754.2):c.349-7T>G (p.(=)), ARHGAP31(NM_020754.3):c.349-7T>G, ARHGAP31(NM_020754.4):c.349-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119380897T>G" "" "likely benign" "" "0000621154" "0" "50" "3" "119102053" "119102053" "subst" "0.00166506" "01943" "ARHGAP31_000037" "g.119102053C>T" "" "" "" "ARHGAP31(NM_020754.2):c.662C>T (p.(Pro221Leu)), ARHGAP31(NM_020754.3):c.662C>T (p.P221L), ARHGAP31(NM_020754.4):c.662C>T (p.P221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119383206C>T" "" "VUS" "" "0000621155" "0" "50" "3" "119120816" "119120816" "subst" "0" "02325" "ARHGAP31_000038" "g.119120816G>T" "" "" "" "ARHGAP31(NM_020754.4):c.1217G>T (p.G406V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119401969G>T" "" "VUS" "" "0000621156" "0" "50" "3" "119120882" "119120882" "subst" "1.62496E-5" "02325" "ARHGAP31_000039" "g.119120882C>G" "" "" "" "ARHGAP31(NM_020754.4):c.1283C>G (p.P428R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119402035C>G" "" "VUS" "" "0000654759" "0" "50" "3" "119112436" "119112436" "subst" "2.03115E-5" "02325" "ARHGAP31_000041" "g.119112436C>T" "" "" "" "ARHGAP31(NM_020754.4):c.1004C>T (p.(Ser335Leu), p.S335L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119393589C>T" "" "VUS" "" "0000654761" "0" "50" "3" "119132818" "119132818" "subst" "4.06303E-6" "02325" "ARHGAP31_000043" "g.119132818C>G" "" "" "" "ARHGAP31(NM_020754.4):c.2042C>G (p.P681R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119413971C>G" "" "VUS" "" "0000654762" "0" "50" "3" "119133568" "119133568" "subst" "0" "02329" "ARHGAP31_000044" "g.119133568T>A" "" "" "" "ARHGAP31(NM_020754.4):c.2792T>A (p.V931E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119414721T>A" "" "VUS" "" "0000654763" "0" "50" "3" "119133924" "119133932" "del" "0" "02325" "ARHGAP31_000045" "g.119133924_119133932del" "" "" "" "ARHGAP31(NM_020754.2):c.3148_3156del (p.(Leu1050_His1052del)), ARHGAP31(NM_020754.4):c.3148_3156delCTGGGGCAC (p.L1050_H1052del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119415077_119415085del" "" "VUS" "" "0000676789" "0" "30" "3" "119133880" "119133880" "subst" "0.000427027" "01804" "ARHGAP31_000046" "g.119133880C>T" "" "" "" "ARHGAP31(NM_020754.2):c.3104C>T (p.(Thr1035Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719128" "0" "70" "3" "119128498" "119128498" "subst" "0" "02329" "ARHGAP31_000042" "g.119128498G>T" "" "" "" "ARHGAP31(NM_020754.4):c.1801G>T (p.E601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719129" "0" "30" "3" "119133120" "119133120" "subst" "0.000414918" "01943" "ARHGAP31_000047" "g.119133120C>A" "" "" "" "ARHGAP31(NM_020754.3):c.2344C>A (p.P782T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719130" "0" "30" "3" "119134031" "119134031" "subst" "0.00017878" "01943" "ARHGAP31_000048" "g.119134031C>T" "" "" "" "ARHGAP31(NM_020754.3):c.3255C>T (p.P1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800896" "0" "30" "3" "119099744" "119099744" "subst" "0.00162058" "01804" "ARHGAP31_000036" "g.119099744T>G" "" "" "" "ARHGAP31(NM_020754.2):c.349-7T>G (p.(=)), ARHGAP31(NM_020754.3):c.349-7T>G, ARHGAP31(NM_020754.4):c.349-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800897" "0" "30" "3" "119099744" "119099744" "subst" "0.00162058" "02326" "ARHGAP31_000036" "g.119099744T>G" "" "" "" "ARHGAP31(NM_020754.2):c.349-7T>G (p.(=)), ARHGAP31(NM_020754.3):c.349-7T>G, ARHGAP31(NM_020754.4):c.349-7T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800898" "0" "50" "3" "119102005" "119102005" "subst" "8.12203E-6" "02325" "ARHGAP31_000049" "g.119102005T>C" "" "" "" "ARHGAP31(NM_020754.4):c.614T>C (p.I205T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800899" "0" "30" "3" "119132916" "119132916" "subst" "1.21944E-5" "01804" "ARHGAP31_000050" "g.119132916C>T" "" "" "" "ARHGAP31(NM_020754.2):c.2140C>T (p.(Pro714Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800900" "0" "30" "3" "119134032" "119134032" "subst" "0.00548124" "01804" "ARHGAP31_000051" "g.119134032G>A" "" "" "" "ARHGAP31(NM_020754.2):c.3256G>A (p.(Ala1086Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800901" "0" "30" "3" "119134579" "119134579" "subst" "0.00026855" "01804" "ARHGAP31_000052" "g.119134579G>A" "" "" "" "ARHGAP31(NM_020754.2):c.3803G>A (p.(Gly1268Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885482" "0" "30" "3" "119101206" "119101206" "subst" "0.000129963" "02325" "ARHGAP31_000053" "g.119101206G>A" "" "" "" "ARHGAP31(NM_020754.4):c.499G>A (p.A167T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885483" "0" "30" "3" "119102053" "119102053" "subst" "0.00166506" "02325" "ARHGAP31_000037" "g.119102053C>T" "" "" "" "ARHGAP31(NM_020754.2):c.662C>T (p.(Pro221Leu)), ARHGAP31(NM_020754.3):c.662C>T (p.P221L), ARHGAP31(NM_020754.4):c.662C>T (p.P221L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885484" "0" "30" "3" "119128397" "119128397" "subst" "0.00518183" "01804" "ARHGAP31_000054" "g.119128397C>T" "" "" "" "ARHGAP31(NM_020754.2):c.1700C>T (p.(Pro567Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885485" "0" "50" "3" "119134455" "119134455" "subst" "0" "02325" "ARHGAP31_000055" "g.119134455C>G" "" "" "" "ARHGAP31(NM_020754.4):c.3679C>G (p.Q1227E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911802" "0" "50" "3" "119120919" "119120919" "subst" "0" "02325" "ARHGAP31_000056" "g.119120919T>A" "" "" "" "ARHGAP31(NM_020754.4):c.1320T>A (p.D440E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911803" "0" "30" "3" "119133088" "119133088" "subst" "0.00027269" "01804" "ARHGAP31_000057" "g.119133088T>C" "" "" "" "ARHGAP31(NM_020754.2):c.2312T>C (p.(Val771Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923811" "0" "30" "3" "119133187" "119133187" "subst" "1.62738E-5" "01804" "ARHGAP31_000058" "g.119133187C>T" "" "" "" "ARHGAP31(NM_020754.2):c.2411C>T (p.(Pro804Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923812" "0" "30" "3" "119133924" "119133932" "del" "0" "01804" "ARHGAP31_000045" "g.119133924_119133932del" "" "" "" "ARHGAP31(NM_020754.2):c.3148_3156del (p.(Leu1050_His1052del)), ARHGAP31(NM_020754.4):c.3148_3156delCTGGGGCAC (p.L1050_H1052del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928677" "0" "50" "3" "119134303" "119134303" "subst" "2.04262E-5" "02327" "ARHGAP31_000059" "g.119134303G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947989" "0" "50" "3" "119084247" "119084247" "subst" "4.07751E-6" "02325" "ARHGAP31_000060" "g.119084247C>T" "" "" "" "ARHGAP31(NM_020754.2):c.185C>T (p.(Ser62Leu)), ARHGAP31(NM_020754.4):c.185C>T (p.S62L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947990" "0" "50" "3" "119087245" "119087245" "subst" "4.06379E-6" "02325" "ARHGAP31_000061" "g.119087245C>T" "" "" "" "ARHGAP31(NM_020754.4):c.230C>T (p.P77L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947991" "0" "30" "3" "119133590" "119133590" "subst" "0.000975959" "01804" "ARHGAP31_000062" "g.119133590G>T" "" "" "" "ARHGAP31(NM_020754.2):c.2814G>T (p.(Gln938His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962412" "0" "50" "3" "119109649" "119109649" "subst" "0" "02325" "ARHGAP31_000063" "g.119109649A>G" "" "" "" "ARHGAP31(NM_020754.4):c.700A>G (p.K234E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962414" "0" "50" "3" "119121118" "119121118" "subst" "0" "02325" "ARHGAP31_000064" "g.119121118A>G" "" "" "" "ARHGAP31(NM_020754.4):c.1519A>G (p.T507A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962415" "0" "30" "3" "119121136" "119121136" "subst" "5.29083E-5" "02325" "ARHGAP31_000065" "g.119121136C>T" "" "" "" "ARHGAP31(NM_020754.4):c.1537C>T (p.P513S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972101" "1" "70" "3" "119132969" "119132969" "del" "0" "04672" "ARHGAP31_000068" "g.119132969del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119414122del" "" "VUS" "ACGS" "0000975507" "0" "30" "3" "119112368" "119112368" "subst" "0.0010318" "02326" "ARHGAP31_000069" "g.119112368T>C" "" "" "" "ARHGAP31(NM_020754.4):c.936T>C (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975508" "0" "50" "3" "119134372" "119134372" "subst" "4.47894E-5" "02325" "ARHGAP31_000070" "g.119134372C>T" "" "" "" "ARHGAP31(NM_020754.4):c.3596C>T (p.A1199V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993161" "0" "50" "3" "119084247" "119084247" "subst" "4.07751E-6" "01804" "ARHGAP31_000060" "g.119084247C>T" "" "" "" "ARHGAP31(NM_020754.2):c.185C>T (p.(Ser62Leu)), ARHGAP31(NM_020754.4):c.185C>T (p.S62L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993162" "0" "30" "3" "119120879" "119120879" "subst" "0" "01804" "ARHGAP31_000071" "g.119120879C>G" "" "" "" "ARHGAP31(NM_020754.2):c.1280C>G (p.(Pro427Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993163" "0" "30" "3" "119121031" "119121031" "subst" "2.84391E-5" "01804" "ARHGAP31_000072" "g.119121031C>T" "" "" "" "ARHGAP31(NM_020754.2):c.1432C>T (p.(Arg478Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993164" "0" "30" "3" "119133239" "119133239" "subst" "4.06954E-6" "01804" "ARHGAP31_000073" "g.119133239G>C" "" "" "" "ARHGAP31(NM_020754.2):c.2463G>C (p.(Gln821His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993165" "0" "30" "3" "119133553" "119133553" "subst" "4.8813E-5" "01804" "ARHGAP31_000074" "g.119133553C>T" "" "" "" "ARHGAP31(NM_020754.2):c.2777C>T (p.(Ala926Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993166" "0" "30" "3" "119133615" "119133615" "subst" "4.06547E-6" "01804" "ARHGAP31_000075" "g.119133615C>T" "" "" "" "ARHGAP31(NM_020754.2):c.2839C>T (p.(Pro947Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993167" "0" "30" "3" "119133748" "119133748" "subst" "8.13511E-6" "01804" "ARHGAP31_000076" "g.119133748C>A" "" "" "" "ARHGAP31(NM_020754.2):c.2972C>A (p.(Ala991Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993168" "0" "50" "3" "119134005" "119134005" "subst" "0" "01804" "ARHGAP31_000077" "g.119134005G>A" "" "" "" "ARHGAP31(NM_020754.2):c.3229G>A (p.(Asp1077Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993169" "0" "30" "3" "119134459" "119134459" "subst" "1.22103E-5" "01804" "ARHGAP31_000078" "g.119134459C>T" "" "" "" "ARHGAP31(NM_020754.2):c.3683C>T (p.(Pro1228Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993170" "0" "30" "3" "119134525" "119134525" "subst" "0" "01804" "ARHGAP31_000079" "g.119134525A>T" "" "" "" "ARHGAP31(NM_020754.2):c.3749A>T (p.(Asp1250Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013798" "0" "50" "3" "119101248" "119101248" "subst" "0" "02325" "ARHGAP31_000080" "g.119101248T>C" "" "" "" "ARHGAP31(NM_020754.4):c.539+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024703" "0" "50" "3" "119120819" "119120819" "subst" "0" "02327" "ARHGAP31_000081" "g.119120819C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033585" "0" "30" "3" "119013860" "119013860" "subst" "0.000328987" "01804" "ARHGAP31_000082" "g.119013860C>T" "" "" "" "ARHGAP31(NM_020754.4):c.100+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033586" "0" "50" "3" "119084180" "119084180" "subst" "4.07435E-6" "01804" "ARHGAP31_000083" "g.119084180A>G" "" "" "" "ARHGAP31(NM_020754.4):c.118A>G (p.(Ser40Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033587" "0" "30" "3" "119084274" "119084274" "subst" "3.69131E-5" "01804" "ARHGAP31_000084" "g.119084274A>C" "" "" "" "ARHGAP31(NM_020754.4):c.203+9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033588" "0" "30" "3" "119112385" "119112385" "subst" "0" "01804" "ARHGAP31_000085" "g.119112385A>G" "" "" "" "ARHGAP31(NM_020754.4):c.953A>G (p.(Lys318Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033589" "0" "30" "3" "119112436" "119112436" "subst" "2.03115E-5" "01804" "ARHGAP31_000041" "g.119112436C>T" "" "" "" "ARHGAP31(NM_020754.4):c.1004C>T (p.(Ser335Leu), p.S335L)" "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 ARHGAP31 ## Count = 78 "{{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}}" "0000055938" "00002795" "90" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Gln683*)" "12" "0000055939" "00002795" "90" "3260" "0" "3260" "0" "c.3260del" "r.(?)" "p.(Lys1087Serfs*4)" "12" "0000055940" "00002795" "30" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Thr727Ile)" "12" "0000079488" "00002795" "00" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Gly1043Arg)" "" "0000248523" "00002795" "10" "1065" "0" "1065" "0" "c.1065A>G" "r.(?)" "p.(Val355=)" "" "0000249016" "00002795" "10" "1926" "5" "1926" "5" "c.1926+5A>G" "r.spl?" "p.?" "" "0000259135" "00002795" "10" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(Pro567=)" "" "0000259136" "00002795" "10" "1926" "11" "1926" "11" "c.1926+11T>C" "r.(=)" "p.(=)" "" "0000259137" "00002795" "10" "2407" "0" "2407" "0" "c.2407G>A" "r.(?)" "p.(Gly803Ser)" "" "0000517444" "00002795" "30" "203" "6" "203" "6" "c.203+6C>T" "r.(=)" "p.(=)" "" "0000517448" "00002795" "30" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Arg168Gln)" "" "0000517449" "00002795" "30" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Pro274Ser)" "" "0000517450" "00002795" "10" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Pro274Ser)" "" "0000517452" "00002795" "30" "1267" "0" "1267" "0" "c.1267G>C" "r.(?)" "p.(Ala423Pro)" "" "0000517454" "00002795" "30" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Ser468Gly)" "" "0000517455" "00002795" "30" "1539" "0" "1539" "0" "c.1539G>A" "r.(?)" "p.(Pro513=)" "" "0000517457" "00002795" "30" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Thr727Ile)" "" "0000517458" "00002795" "30" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Gly775Ser)" "" "0000517463" "00002795" "70" "2890" "0" "2890" "0" "c.2890C>T" "r.(?)" "p.(Gln964Ter)" "" "0000517464" "00002795" "30" "3444" "0" "3444" "0" "c.3444T>A" "r.(?)" "p.(Ser1148=)" "" "0000517466" "00002795" "30" "3802" "0" "3802" "0" "c.3802G>A" "r.(?)" "p.(Gly1268Arg)" "" "0000517467" "00002795" "30" "3802" "0" "3802" "0" "c.3802G>A" "r.(?)" "p.(Gly1268Arg)" "" "0000517468" "00002795" "30" "3882" "0" "3882" "0" "c.3882G>A" "r.(?)" "p.(Ser1294=)" "" "0000608219" "00002795" "30" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "" "0000608220" "00002795" "30" "4066" "0" "4066" "0" "c.4066A>G" "r.(?)" "p.(Ile1356Val)" "" "0000621153" "00002795" "30" "349" "-7" "349" "-7" "c.349-7T>G" "r.(=)" "p.(=)" "" "0000621154" "00002795" "50" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "" "0000621155" "00002795" "50" "1217" "0" "1217" "0" "c.1217G>T" "r.(?)" "p.(Gly406Val)" "" "0000621156" "00002795" "50" "1283" "0" "1283" "0" "c.1283C>G" "r.(?)" "p.(Pro428Arg)" "" "0000654759" "00002795" "50" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ser335Leu)" "" "0000654761" "00002795" "50" "2042" "0" "2042" "0" "c.2042C>G" "r.(?)" "p.(Pro681Arg)" "" "0000654762" "00002795" "50" "2792" "0" "2792" "0" "c.2792T>A" "r.(?)" "p.(Val931Glu)" "" "0000654763" "00002795" "50" "3148" "0" "3156" "0" "c.3148_3156del" "r.(?)" "p.(Leu1050_His1052del)" "" "0000676789" "00002795" "30" "3104" "0" "3104" "0" "c.3104C>T" "r.(?)" "p.(Thr1035Ile)" "" "0000719128" "00002795" "70" "1801" "0" "1801" "0" "c.1801G>T" "r.(?)" "p.(Glu601Ter)" "" "0000719129" "00002795" "30" "2344" "0" "2344" "0" "c.2344C>A" "r.(?)" "p.(Pro782Thr)" "" "0000719130" "00002795" "30" "3255" "0" "3255" "0" "c.3255C>T" "r.(?)" "p.(Pro1085=)" "" "0000800896" "00002795" "30" "349" "-7" "349" "-7" "c.349-7T>G" "r.(=)" "p.(=)" "" "0000800897" "00002795" "30" "349" "-7" "349" "-7" "c.349-7T>G" "r.(=)" "p.(=)" "" "0000800898" "00002795" "50" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Ile205Thr)" "" "0000800899" "00002795" "30" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(Pro714Ser)" "" "0000800900" "00002795" "30" "3256" "0" "3256" "0" "c.3256G>A" "r.(?)" "p.(Ala1086Thr)" "" "0000800901" "00002795" "30" "3803" "0" "3803" "0" "c.3803G>A" "r.(?)" "p.(Gly1268Glu)" "" "0000885482" "00002795" "30" "499" "0" "499" "0" "c.499G>A" "r.(?)" "p.(Ala167Thr)" "" "0000885483" "00002795" "30" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Pro221Leu)" "" "0000885484" "00002795" "30" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Pro567Leu)" "" "0000885485" "00002795" "50" "3679" "0" "3679" "0" "c.3679C>G" "r.(?)" "p.(Gln1227Glu)" "" "0000911802" "00002795" "50" "1320" "0" "1320" "0" "c.1320T>A" "r.(?)" "p.(Asp440Glu)" "" "0000911803" "00002795" "30" "2312" "0" "2312" "0" "c.2312T>C" "r.(?)" "p.(Val771Ala)" "" "0000923811" "00002795" "30" "2411" "0" "2411" "0" "c.2411C>T" "r.(?)" "p.(Pro804Leu)" "" "0000923812" "00002795" "30" "3148" "0" "3156" "0" "c.3148_3156del" "r.(?)" "p.(Leu1050_His1052del)" "" "0000928677" "00002795" "50" "3527" "0" "3527" "0" "c.3527G>A" "r.(?)" "p.(Arg1176His)" "" "0000947989" "00002795" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ser62Leu)" "" "0000947990" "00002795" "50" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Pro77Leu)" "" "0000947991" "00002795" "30" "2814" "0" "2814" "0" "c.2814G>T" "r.(?)" "p.(Gln938His)" "" "0000962412" "00002795" "50" "700" "0" "700" "0" "c.700A>G" "r.(?)" "p.(Lys234Glu)" "" "0000962414" "00002795" "50" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Thr507Ala)" "" "0000962415" "00002795" "30" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Pro513Ser)" "" "0000972101" "00002795" "70" "2193" "0" "2193" "0" "c.2193del" "r.(?)" "p.(Thr732Glnfs*26)" "12" "0000975507" "00002795" "30" "936" "0" "936" "0" "c.936T>C" "r.(?)" "p.(=)" "" "0000975508" "00002795" "50" "3596" "0" "3596" "0" "c.3596C>T" "r.(?)" "p.(Ala1199Val)" "" "0000993161" "00002795" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Ser62Leu)" "" "0000993162" "00002795" "30" "1280" "0" "1280" "0" "c.1280C>G" "r.(?)" "p.(Pro427Arg)" "" "0000993163" "00002795" "30" "1432" "0" "1432" "0" "c.1432C>T" "r.(?)" "p.(Arg478Cys)" "" "0000993164" "00002795" "30" "2463" "0" "2463" "0" "c.2463G>C" "r.(?)" "p.(Gln821His)" "" "0000993165" "00002795" "30" "2777" "0" "2777" "0" "c.2777C>T" "r.(?)" "p.(Ala926Val)" "" "0000993166" "00002795" "30" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Pro947Ser)" "" "0000993167" "00002795" "30" "2972" "0" "2972" "0" "c.2972C>A" "r.(?)" "p.(Ala991Glu)" "" "0000993168" "00002795" "50" "3229" "0" "3229" "0" "c.3229G>A" "r.(?)" "p.(Asp1077Asn)" "" "0000993169" "00002795" "30" "3683" "0" "3683" "0" "c.3683C>T" "r.(?)" "p.(Pro1228Leu)" "" "0000993170" "00002795" "30" "3749" "0" "3749" "0" "c.3749A>T" "r.(?)" "p.(Asp1250Val)" "" "0001013798" "00002795" "50" "539" "2" "539" "2" "c.539+2T>C" "r.spl?" "p.?" "" "0001024703" "00002795" "50" "1220" "0" "1220" "0" "c.1220C>A" "r.(?)" "p.(Ala407Asp)" "" "0001033585" "00002795" "30" "100" "9" "100" "9" "c.100+9C>T" "r.(=)" "p.(=)" "" "0001033586" "00002795" "50" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Ser40Gly)" "" "0001033587" "00002795" "30" "203" "9" "203" "9" "c.203+9A>C" "r.(=)" "p.(=)" "" "0001033588" "00002795" "30" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.(Lys318Arg)" "" "0001033589" "00002795" "30" "1004" "0" "1004" "0" "c.1004C>T" "r.(?)" "p.(Ser335Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000029846" "0000055938" "0000029847" "0000055939" "0000029848" "0000055940" "0000050508" "0000079488" "0000450142" "0000972101"