### LOVD-version 3000-28d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AVPR2) # 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}}" "AVPR2" "arginine vasopressin receptor 2" "X" "q28" "unknown" "NG_008687.1" "UD_132084318086" "" "https://www.LOVD.nl/AVPR2" "" "1" "897" "" "300538" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/AVPR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2019-08-31 16:07:51" "00000" "2023-01-11 15:44:22" ## 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}}" "00000673" "AVPR2" "transcript variant 1" "003" "NM_000054.4" "" "NP_000045.1" "" "" "" "-71" "1554" "1116" "153170529" "153172620" "00000" "2012-09-13 12:46:12" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02166" "NSIAD" "nephrogenic syndrome of inappropriate antidiuresis (NSIAD)" "XLR" "300539" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02232" "NDI" "Diabetes insipidus, nephrogenic" "XLR" "304800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AVPR2" "02166" "AVPR2" "02232" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172287" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172288" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172289" "" "" "" "4" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172290" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172291" "" "" "" "4" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00183137" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 1 unaffected heterozygous carrier female" "M" "" "" "" "0" "" "" "" "25644381-FamAU29" "00294965" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294966" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294967" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305895" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "10" "00327461" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted." "M" "" "Canada" "" "" "Yes" "" "" "M68 II-1" "00384626" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "yes" "Israel" "" "0" "" "" "" "Family 4 patient 1" "00395066" "" "" "" "1" "" "00000" "{PMID:Zacchia 2021:33964006}" "" "M" "" "(Italy)" "" "0" "" "" "" "K12" "00414431" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP98" "00414455" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP122" "00414470" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP137" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00172287" "00187" "00172288" "00187" "00172289" "00187" "00172290" "00187" "00172291" "00187" "00183137" "00187" "00294965" "00198" "00294966" "00198" "00294967" "00198" "00305895" "02232" "00327461" "05412" "00384626" "00198" "00395066" "04214" "00414431" "00198" "00414455" "00198" "00414470" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 02166, 02232, 04214, 05412 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000137151" "00187" "00172287" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137152" "00187" "00172288" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137153" "00187" "00172289" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137154" "00187" "00172290" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137155" "00187" "00172291" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000143891" "00187" "00183137" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000232007" "02232" "00305895" "03695" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000245750" "05412" "00327461" "03980" "Familial, autosomal recessive" "15y" "Fundus: No specific findings\r\n\r\nOCT: Normal\r\n\r\nERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512)\r\n\r\n- Reduced Visual Acuity 20/40 OU (HP:0007663)" "" "" "" "" "" "" "" "" "" "" "" "" "0000278416" "00198" "00384626" "00000" "Familial, X-linked" "" "Retinitis pigmentosa (XL) and diabetes insipidus (XL) and hearing loss (AR)" "" "" "" "" "" "" "" "" "" "Mixed" "Syndromic retinitis pigmentosa" "" "0000288266" "04214" "00395066" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Tubulopathy (Diabetes Insipidus)" "" "" "0000306266" "00198" "00414431" "00000" "Familial, X-linked recessive" "4m" "" "" "" "" "" "" "" "" "" "" "X-Linked Nephrogenic Diabetes Insipidus" "" "" "0000306290" "00198" "00414455" "00000" "Familial, X-linked recessive" "2m" "" "" "" "" "" "" "" "" "" "" "X-Linked Nephrogenic Diabetes Insipidus" "" "" "0000306305" "00198" "00414470" "00000" "Familial, X-linked recessive" "5y" "" "" "" "" "" "" "" "" "" "" "Nephrogenic Syndrome of Inappropriate Antidiuresis" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000173170" "00172287" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173171" "00172288" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173172" "00172289" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173173" "00172290" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000173174" "00172291" "1" "00124" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000184095" "00183137" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000296133" "00294965" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296134" "00294966" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296135" "00294967" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307026" "00305895" "1" "03695" "03695" "2020-07-05 14:18:11" "" "" "SEQ-NG" "DNA" "" "" "0000328674" "00327461" "1" "03980" "03980" "2021-01-21 20:49:01" "" "" "SEQ-NG" "DNA" "" "" "0000385854" "00384626" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000396312" "00395066" "1" "00000" "03840" "2021-12-03 13:19:14" "" "" "SEQ-NG" "DNA" "blood" "115 genes causing different inherited kidney diseases" "0000415711" "00414431" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415735" "00414455" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415750" "00414470" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000173170" "AVPR2" "0000173171" "AVPR2" "0000173172" "AVPR2" "0000173173" "AVPR2" "0000173174" "AVPR2" "0000184095" "MECP2" "0000307026" "AVPR2" "0000385854" "RPGR" "0000396312" "AVPR2" "0000415711" "AVPR2" "0000415735" "AVPR2" "0000415750" "AVPR2" ## 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 = 126 "{{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}}" "0000002222" "20" "50" "X" "153170447" "153170448" "ins" "0.999964" "00037" "AVPR2_000051" "g.153170447_153170448insC" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153904993_153904994insC" "" "VUS" "" "0000008044" "20" "50" "X" "153170980" "153170980" "subst" "0.999396" "00037" "AVPR2_000053" "g.153170980T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153905526T>G" "" "VUS" "" "0000010214" "20" "50" "X" "153170447" "153170448" "ins" "0.999964" "00037" "AVPR2_000051" "g.153170447_153170448insC" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153904993_153904994insC" "" "VUS" "" "0000010215" "20" "50" "X" "153170980" "153170980" "subst" "0.999396" "00037" "AVPR2_000053" "g.153170980T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.153905526T>G" "" "VUS" "" "0000248206" "0" "10" "X" "153171993" "153171993" "subst" "0.472646" "02325" "AVPR2_000015" "g.153171993A>G" "" "" "" "AVPR2(NM_000054.6):c.927A>G (p.L309=), AVPR2(NM_000054.7):c.927A>G (p.L309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906539A>G" "" "benign" "" "0000250576" "0" "50" "X" "153175189" "153175189" "subst" "0.000405733" "02329" "ARHGAP4_000026" "g.153175189A>G" "" "" "" "ARHGAP4(NM_001164741.1):c.2534+6T>C, ARHGAP4(NM_001164741.2):c.2534+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153909735A>G" "" "VUS" "" "0000250909" "0" "10" "X" "153171993" "153171993" "subst" "0.472646" "02326" "AVPR2_000015" "g.153171993A>G" "" "" "" "AVPR2(NM_000054.6):c.927A>G (p.L309=), AVPR2(NM_000054.7):c.927A>G (p.L309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906539A>G" "" "benign" "" "0000259572" "0" "30" "X" "153171704" "153171715" "del" "0" "02325" "AVPR2_000011" "g.153171704_153171715del" "" "" "" "AVPR2(NM_000054.6):c.744_755delCAGGGGACGCCG (p.R249_R252del), AVPR2(NM_001146151.2):c.744_755delCAGGGGACGCCG (p.R249_R252del), AVPR2(NM_001146151....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906250_153906261del" "" "likely benign" "" "0000261345" "0" "90" "X" "153171270" "153171270" "subst" "0" "02326" "AVPR2_000057" "g.153171270C>T" "" "" "" "AVPR2(NM_000054.6):c.310C>T (p.R104C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905816C>T" "" "pathogenic" "" "0000261346" "0" "10" "X" "153170995" "153170995" "subst" "0.038397" "02326" "AVPR2_000055" "g.153170995G>A" "" "" "" "AVPR2(NM_000054.4):c.35G>A (p.(Gly12Glu)), AVPR2(NM_001146151.3):c.35G>A (p.G12E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905541G>A" "" "benign" "" "0000261347" "0" "70" "X" "153171451" "153171451" "subst" "0" "02326" "AVPR2_000010" "g.153171451G>T" "" "" "" "AVPR2(NM_000054.6):c.491G>T (p.W164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905997G>T" "" "likely pathogenic" "" "0000261348" "0" "10" "X" "153172059" "153172059" "subst" "0.0490008" "02326" "AVPR2_000016" "g.153172059C>T" "" "" "" "AVPR2(NM_000054.6):c.993C>T (p.S331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906605C>T" "" "benign" "" "0000262869" "0" "30" "X" "153176187" "153176187" "subst" "0" "01943" "ARHGAP4_000030" "g.153176187G>C" "" "" "" "ARHGAP4(NM_001164741.1):c.1903C>G (p.P635A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153910733G>C" "" "likely benign" "" "0000262870" "0" "30" "X" "153175521" "153175521" "subst" "0" "01943" "ARHGAP4_000028" "g.153175521G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2295C>T (p.S765=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153910067G>A" "" "likely benign" "" "0000262872" "0" "50" "X" "153173413" "153173413" "subst" "0" "01943" "ARHGAP4_000020" "g.153173413C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2731G>A (p.V911M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153907959C>T" "" "VUS" "" "0000263462" "0" "30" "X" "153172121" "153172121" "subst" "0.000585784" "01943" "AVPR2_000017" "g.153172121G>A" "" "" "" "AVPR2(NM_000054.5):c.1055G>A (p.G352D), AVPR2(NM_000054.6):c.1055G>A (p.G352D), AVPR2(NM_000054.7):c.1055G>A (p.G352D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906667G>A" "" "likely benign" "" "0000263463" "0" "50" "X" "153171072" "153171072" "subst" "0.0000118007" "01943" "AVPR2_000056" "g.153171072C>T" "" "" "" "AVPR2(NM_001146151.2):c.112C>T (p.R38W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905618C>T" "" "VUS" "" "0000263464" "0" "30" "X" "153171300" "153171300" "subst" "0.000017318" "01943" "AVPR2_000058" "g.153171300G>A" "" "" "" "AVPR2(NM_001146151.2):c.340G>A (p.A114T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905846G>A" "" "likely benign" "" "0000263465" "0" "30" "X" "153171700" "153171700" "subst" "0.00066135" "01943" "AVPR2_000012" "g.153171700G>A" "" "" "" "AVPR2(NM_001146151.2):c.740G>A (p.R247H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906246G>A" "" "likely benign" "" "0000263466" "0" "30" "X" "153171851" "153171851" "subst" "0.00000567328" "01943" "AVPR2_000013" "g.153171851C>T" "" "" "" "AVPR2(NM_001146151.2):c.891C>T (p.D297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906397C>T" "" "likely benign" "" "0000336109" "0" "50" "X" "153174922" "153174922" "subst" "0" "01804" "ARHGAP4_000021" "g.153174922G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2602C>T (p.(Leu868Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153909468G>A" "" "VUS" "" "0000337270" "0" "30" "X" "153170595" "153170595" "subst" "0" "02327" "AVPR2_000019" "g.153170595C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905141C>A" "" "likely benign" "" "0000337271" "0" "10" "X" "153170980" "153170980" "subst" "0.999396" "02327" "AVPR2_000053" "g.153170980T>G" "" "" "" "AVPR2(NM_001146151.3):c.26-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905526T>G" "" "benign" "" "0000337272" "0" "90" "X" "153171871" "153171871" "subst" "0" "02327" "AVPR2_000041" "g.153171871G>A" "" "" "" "AVPR2(NM_000054.7):c.910+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906417G>A" "" "pathogenic" "" "0000341148" "0" "90" "X" "153171354" "153171354" "subst" "0" "02327" "AVPR2_000029" "g.153171354G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905900G>C" "" "pathogenic" "" "0000341748" "0" "70" "X" "153171297" "153171297" "subst" "0" "02327" "AVPR2_000028" "g.153171297C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905843C>T" "" "likely pathogenic" "" "0000341885" "0" "90" "X" "153171369" "153171369" "subst" "0.00000580818" "02327" "AVPR2_000030" "g.153171369C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905915C>T" "" "pathogenic" "" "0000341887" "0" "90" "X" "153171370" "153171370" "subst" "0.00000581041" "02327" "AVPR2_000031" "g.153171370G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905916G>A" "" "pathogenic" "" "0000342112" "0" "90" "X" "153171501" "153171501" "subst" "0" "02327" "AVPR2_000033" "g.153171501C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906047C>T" "" "pathogenic" "" "0000342198" "0" "70" "X" "153171564" "153171564" "subst" "0" "02327" "AVPR2_000035" "g.153171564C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906110C>T" "" "likely pathogenic" "" "0000342667" "0" "90" "X" "153172075" "153172075" "subst" "0" "02327" "AVPR2_000045" "g.153172075C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906621C>T" "" "pathogenic" "" "0000345008" "0" "70" "X" "153171235" "153171235" "subst" "0" "02327" "AVPR2_000026" "g.153171235A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905781A>T" "" "likely pathogenic" "" "0000345811" "0" "90" "X" "153171513" "153171513" "subst" "0" "02327" "AVPR2_000034" "g.153171513G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906059G>T" "" "pathogenic" "" "0000346166" "0" "50" "X" "153171127" "153171127" "subst" "0" "02327" "AVPR2_000021" "g.153171127G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905673G>A" "" "VUS" "" "0000347176" "0" "70" "X" "153171090" "153171090" "subst" "0" "02327" "AVPR2_000020" "g.153171090C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905636C>T" "" "likely pathogenic" "" "0000348931" "0" "50" "X" "153172010" "153172010" "subst" "0" "02327" "AVPR2_000042" "g.153172010G>T" "" "" "" "AVPR2(NM_000054.4):c.944G>T (p.(Ser315Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906556G>T" "" "VUS" "" "0000348932" "0" "70" "X" "153172020" "153172020" "subst" "0" "02327" "AVPR2_000043" "g.153172020C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906566C>G" "" "likely pathogenic" "" "0000349776" "0" "90" "X" "153172034" "153172034" "subst" "0" "02327" "AVPR2_000044" "g.153172034G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906580G>A" "" "pathogenic" "" "0000350447" "0" "50" "X" "153171788" "153171793" "del" "0" "02327" "AVPR2_000038" "g.153171788_153171793del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153906334_153906339del" "" "VUS" "" "0000350686" "0" "70" "X" "153171222" "153171222" "subst" "0" "02327" "AVPR2_000024" "g.153171222G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.153905768G>A" "" "likely pathogenic" "" "0000393027" "1" "50" "X" "153172083" "153172083" "subst" "0.00092624" "00124" "AVPR2_000001" "g.153172083G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L339L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153906629G>A" "" "VUS" "" "0000393028" "1" "50" "X" "153171077" "153171077" "subst" "0.000588294" "00124" "AVPR2_000002" "g.153171077G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A39A" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153905623G>A" "" "VUS" "" "0000393029" "1" "50" "X" "153170995" "153170995" "subst" "0.038397" "00124" "AVPR2_000003" "g.153170995G>A" "4/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G12E" "recurrent, found 4 times" "Germline" "" "" "0" "" "" "g.153905541G>A" "" "VUS" "" "0000393030" "1" "50" "X" "153171993" "153171993" "subst" "0.472646" "00124" "AVPR2_000004" "g.153171993A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L309L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.153906539A>G" "" "VUS" "" "0000393031" "1" "50" "X" "153172059" "153172059" "subst" "0.0490008" "00124" "AVPR2_000005" "g.153172059C>T" "4/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S331S" "recurrent, found 4 times" "Germline" "" "" "0" "" "" "g.153906605C>T" "" "VUS" "" "0000408064" "21" "90" "X" "152710806" "153609906" "dup" "0" "00006" "MECP2_002820" "g.152710806_153609906dup" "" "{PMID:Hu 2016:25644381}" "" "MECP2" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000574416" "0" "10" "X" "153170980" "153170980" "subst" "0.999396" "02325" "AVPR2_000053" "g.153170980T>G" "" "" "" "AVPR2(NM_001146151.3):c.26-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905526T>G" "" "benign" "" "0000574417" "0" "10" "X" "153170980" "153170980" "subst" "0.999396" "02326" "AVPR2_000053" "g.153170980T>G" "" "" "" "AVPR2(NM_001146151.3):c.26-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905526T>G" "" "benign" "" "0000574418" "0" "30" "X" "153170995" "153170995" "subst" "0.038397" "01804" "AVPR2_000003" "g.153170995G>A" "" "" "" "AVPR2(NM_000054.4):c.35G>A (p.(Gly12Glu)), AVPR2(NM_001146151.3):c.35G>A (p.G12E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905541G>A" "" "likely benign" "" "0000574419" "0" "30" "X" "153171036" "153171036" "subst" "0" "01943" "ARHGAP4_000046" "g.153171036G>A" "" "" "" "AVPR2(NM_001146151.2):c.76G>A (p.E26K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905582G>A" "" "likely benign" "" "0000574420" "0" "70" "X" "153171213" "153171213" "subst" "0" "02327" "ARHGAP4_000047" "g.153171213G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905759G>A" "" "likely pathogenic" "" "0000574421" "0" "30" "X" "153171277" "153171277" "subst" "0.000932632" "01943" "ARHGAP4_000048" "g.153171277G>A" "" "" "" "AVPR2(NM_001146151.2):c.317G>A (p.R106H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905823G>A" "" "likely benign" "" "0000574422" "0" "50" "X" "153171387" "153171387" "subst" "0.00000580494" "01943" "ARHGAP4_000049" "g.153171387C>T" "" "" "" "AVPR2(NM_001146151.2):c.427C>T (p.R143C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905933C>T" "" "VUS" "" "0000574424" "0" "30" "X" "153171445" "153171445" "subst" "0.0000639654" "01943" "ARHGAP4_000051" "g.153171445T>C" "" "" "" "AVPR2(NM_001146151.2):c.485T>C (p.V162A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905991T>C" "" "likely benign" "" "0000574425" "0" "30" "X" "153171712" "153171712" "subst" "0.0000560246" "01943" "ARHGAP4_000052" "g.153171712G>A" "" "" "" "AVPR2(NM_001146151.2):c.752G>A (p.R251H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906258G>A" "" "likely benign" "" "0000574426" "0" "30" "X" "153171714" "153171714" "subst" "0.00185976" "01804" "ARHGAP4_000053" "g.153171714C>T" "" "" "" "AVPR2(NM_000054.4):c.754C>T (p.(Arg252Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906260C>T" "" "likely benign" "" "0000574427" "0" "30" "X" "153171795" "153171795" "subst" "0.0000391786" "01804" "ARHGAP4_000054" "g.153171795G>A" "" "" "" "AVPR2(NM_000054.4):c.835G>A (p.(Val279Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906341G>A" "" "likely benign" "" "0000574428" "0" "10" "X" "153172083" "153172083" "subst" "0.00092624" "02326" "AVPR2_000001" "g.153172083G>A" "" "" "" "AVPR2(NM_000054.5):c.1017G>A (p.L339=), AVPR2(NM_000054.6):c.1017G>A (p.L339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906629G>A" "" "benign" "" "0000574429" "0" "30" "X" "153172121" "153172121" "subst" "0.000585784" "02326" "AVPR2_000017" "g.153172121G>A" "" "" "" "AVPR2(NM_000054.5):c.1055G>A (p.G352D), AVPR2(NM_000054.6):c.1055G>A (p.G352D), AVPR2(NM_000054.7):c.1055G>A (p.G352D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906667G>A" "" "likely benign" "" "0000574430" "0" "50" "X" "153172510" "153172510" "subst" "0.0000338467" "01943" "ARHGAP4_000055" "g.153172510G>A" "" "" "" "AVPR2(NR_027419.1):n.1491G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153907056G>A" "" "VUS" "" "0000574431" "0" "30" "X" "153173202" "153173202" "subst" "0.000707784" "01943" "ARHGAP4_000056" "g.153173202G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2942C>T (p.T981M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153907748G>A" "" "likely benign" "" "0000574432" "0" "30" "X" "153173256" "153173256" "subst" "0.000129715" "01943" "ARHGAP4_000057" "g.153173256C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2888G>A (p.R963Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153907802C>T" "" "likely benign" "" "0000574433" "0" "30" "X" "153173283" "153173283" "subst" "0" "01943" "ARHGAP4_000058" "g.153173283C>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2861G>T (p.R954L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153907829C>A" "" "likely benign" "" "0000574435" "0" "50" "X" "153174908" "153174908" "subst" "0" "01943" "ARHGAP4_000060" "g.153174908C>G" "" "" "" "ARHGAP4(NM_001164741.1):c.2616G>C (p.E872D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153909454C>G" "" "VUS" "" "0000574436" "0" "30" "X" "153174934" "153174934" "subst" "0.00782856" "01804" "ARHGAP4_000043" "g.153174934T>G" "" "" "" "ARHGAP4(NM_001164741.1):c.2590A>C (p.(Ser864Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153909480T>G" "" "likely benign" "" "0000574437" "0" "30" "X" "153174993" "153174993" "subst" "0.00798367" "01804" "ARHGAP4_000061" "g.153174993C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2535-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153909539C>T" "" "likely benign" "" "0000574438" "0" "30" "X" "153175668" "153175668" "subst" "0.0000849882" "01943" "ARHGAP4_000062" "g.153175668C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2233G>A (p.V745I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910214C>T" "" "likely benign" "" "0000574439" "0" "10" "X" "153175745" "153175745" "subst" "0.00108184" "01943" "ARHGAP4_000063" "g.153175745C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2156G>A (p.R719Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910291C>T" "" "benign" "" "0000574440" "0" "30" "X" "153175784" "153175784" "subst" "0.00185665" "01943" "ARHGAP4_000064" "g.153175784G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2117C>T (p.P706L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910330G>A" "" "likely benign" "" "0000574442" "0" "30" "X" "153176278" "153176278" "subst" "0.000129072" "01943" "ARHGAP4_000065" "g.153176278T>C" "" "" "" "ARHGAP4(NM_001164741.1):c.1812A>G (p.P604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910824T>C" "" "likely benign" "" "0000574446" "0" "10" "X" "153176377" "153176377" "subst" "0" "01943" "ARHGAP4_000069" "g.153176377T>C" "" "" "" "ARHGAP4(NM_001164741.1):c.1800A>G (p.R600=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910923T>C" "" "benign" "" "0000574447" "0" "50" "X" "153176601" "153176601" "subst" "0" "01943" "ARHGAP4_000070" "g.153176601G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.1705C>T (p.R569C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153911147G>A" "" "VUS" "" "0000619190" "0" "30" "X" "153171401" "153171401" "subst" "0.000603479" "01943" "ARHGAP4_000080" "g.153171401G>A" "" "" "" "AVPR2(NM_001146151.2):c.441G>A (p.A147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905947G>A" "" "likely benign" "" "0000619191" "0" "30" "X" "153171506" "153171506" "subst" "0.000209157" "01943" "ARHGAP4_000081" "g.153171506C>T" "" "" "" "AVPR2(NM_001146151.2):c.546C>T (p.N182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906052C>T" "" "likely benign" "" "0000619192" "0" "30" "X" "153171704" "153171715" "del" "0" "01943" "AVPR2_000011" "g.153171704_153171715del" "" "" "" "AVPR2(NM_000054.6):c.744_755delCAGGGGACGCCG (p.R249_R252del), AVPR2(NM_001146151.2):c.744_755delCAGGGGACGCCG (p.R249_R252del), AVPR2(NM_001146151....)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906250_153906261del" "" "likely benign" "" "0000619193" "0" "90" "X" "153172068" "153172068" "dup" "0" "02327" "ARHGAP4_000082" "g.153172068dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906614dup" "" "pathogenic" "" "0000619194" "0" "10" "X" "153172121" "153172121" "subst" "0.000585784" "02325" "AVPR2_000017" "g.153172121G>A" "" "" "" "AVPR2(NM_000054.5):c.1055G>A (p.G352D), AVPR2(NM_000054.6):c.1055G>A (p.G352D), AVPR2(NM_000054.7):c.1055G>A (p.G352D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906667G>A" "" "benign" "" "0000619195" "0" "30" "X" "153172178" "153172178" "subst" "0.0000113854" "01943" "ARHGAP4_000083" "g.153172178C>T" "" "" "" "AVPR2(NM_000054.5):c.1112C>T (p.S371L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906724C>T" "" "likely benign" "" "0000652822" "1" "70" "X" "153171136" "153171136" "subst" "0" "03575" "AVPR2_000060" "g.153171136T>C" "31/2541 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous, no homozygous; {DB:CLININrs193922112}" "Germline" "" "rs193922112" "0" "" "" "g.153905682T>C" "" "likely pathogenic" "" "0000652823" "1" "70" "X" "153171633" "153171633" "subst" "0" "03575" "AVPR2_000061" "g.153171633C>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs193922117}" "Germline" "" "rs193922117" "0" "" "" "g.153906179C>T" "" "likely pathogenic" "" "0000652824" "1" "70" "X" "153171712" "153171718" "del" "0" "03575" "AVPR2_000062" "g.153171712_153171718del" "4/2739 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs193922118}" "Germline" "" "rs193922118" "0" "" "" "g.153906258_153906264del" "" "likely pathogenic" "" "0000659162" "0" "50" "X" "153171054" "153171054" "subst" "0" "01943" "ARHGAP4_000086" "g.153171054C>T" "" "" "" "AVPR2(NM_001146151.2):c.94C>T (p.R32W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905600C>T" "" "VUS" "" "0000659163" "0" "70" "X" "153171442" "153171442" "subst" "0" "02327" "ARHGAP4_000087" "g.153171442T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153905988T>C" "" "likely pathogenic" "" "0000659164" "0" "30" "X" "153171603" "153171603" "subst" "0.000352532" "02325" "ARHGAP4_000088" "g.153171603G>A" "" "" "" "AVPR2(NM_001146151.3):c.643G>A (p.V215M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153906149G>A" "" "likely benign" "" "0000659165" "0" "50" "X" "153174949" "153174949" "subst" "0" "01943" "ARHGAP4_000089" "g.153174949C>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2575G>T (p.G859W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153909495C>A" "" "VUS" "" "0000659166" "0" "30" "X" "153175788" "153175788" "subst" "0.0000403819" "01943" "ARHGAP4_000090" "g.153175788G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2113C>T (p.L705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910334G>A" "" "likely benign" "" "0000659167" "0" "30" "X" "153175801" "153175801" "subst" "0.000338494" "01943" "ARHGAP4_000091" "g.153175801G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2100C>T (p.F700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.153910347G>A" "" "likely benign" "" "0000673563" "2" "90" "X" "153172029" "153172029" "subst" "0" "03695" "AVPR2_000063" "g.153172029C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.153906575C>A" "" "pathogenic" "" "0000682227" "0" "50" "X" "153171702" "153171702" "subst" "0.000112069" "01943" "ARHGAP4_000092" "g.153171702C>T" "" "" "" "AVPR2(NM_001146151.2):c.742C>T (p.R248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682228" "0" "30" "X" "153174571" "153174571" "subst" "0.000146908" "01943" "ARHGAP4_000093" "g.153174571G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2680C>T (p.R894C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682229" "0" "30" "X" "153174992" "153174992" "subst" "0.000400111" "01943" "ARHGAP4_000094" "g.153174992G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2535-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682231" "0" "30" "X" "153175639" "153175639" "subst" "0.00217314" "01943" "ARHGAP4_000096" "g.153175639G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2262C>T (p.S754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682232" "0" "30" "X" "153175750" "153175750" "subst" "0.00359207" "01943" "ARHGAP4_000097" "g.153175750C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2151G>A (p.Q717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682233" "0" "30" "X" "153176236" "153176236" "subst" "0.0000138743" "01943" "ARHGAP4_000098" "g.153176236G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.1854C>T (p.A618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693439" "0" "30" "X" "153172041" "153172041" "subst" "0" "01943" "ARHGAP4_000100" "g.153172041T>C" "" "" "" "AVPR2(NM_000054.5):c.975T>C (p.Y325=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693440" "0" "30" "X" "153172083" "153172083" "subst" "0.00092624" "01943" "AVPR2_000001" "g.153172083G>A" "" "" "" "AVPR2(NM_000054.5):c.1017G>A (p.L339=), AVPR2(NM_000054.6):c.1017G>A (p.L339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693441" "0" "30" "X" "153172102" "153172102" "subst" "0.0000227279" "01943" "ARHGAP4_000101" "g.153172102C>T" "" "" "" "AVPR2(NM_000054.5):c.1036C>T (p.R346C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693442" "0" "30" "X" "153172103" "153172103" "subst" "0" "01943" "ARHGAP4_000102" "g.153172103G>A" "" "" "" "AVPR2(NM_000054.5):c.1037G>A (p.R346H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693443" "0" "30" "X" "153175189" "153175189" "subst" "0.000405733" "01943" "ARHGAP4_000026" "g.153175189A>G" "" "" "" "ARHGAP4(NM_001164741.1):c.2534+6T>C, ARHGAP4(NM_001164741.2):c.2534+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693444" "0" "30" "X" "153175197" "153175197" "subst" "0" "01943" "ARHGAP4_000103" "g.153175197G>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2532C>A (p.A844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693445" "0" "50" "X" "153175369" "153175369" "subst" "0.0000495463" "01943" "ARHGAP4_000104" "g.153175369C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2360G>A (p.G787E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712640" "21" "50" "X" "153171702" "153171702" "subst" "0.000112069" "03980" "ARHGAP4_000092" "g.153171702C>T" "" "Doucette 2021, submitted" "" "" "" "Germline" "yes" "rs782516523" "0" "" "" "" "" "VUS" "" "0000728583" "0" "30" "X" "153171077" "153171077" "subst" "0.000588294" "01943" "AVPR2_000002" "g.153171077G>A" "" "" "" "AVPR2(NM_001146151.2):c.117G>A (p.A39=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728584" "0" "30" "X" "153171163" "153171163" "subst" "0.000985996" "02325" "ARHGAP4_000105" "g.153171163G>A" "" "" "" "AVPR2(NM_000054.7):c.203G>A (p.R68Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728585" "0" "50" "X" "153171432" "153171432" "subst" "0.0000173422" "02329" "ARHGAP4_000050" "g.153171432C>T" "" "" "" "AVPR2(NM_001146151.3):c.472C>T (p.R158W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728586" "0" "30" "X" "153174581" "153174581" "subst" "0.0000170087" "01943" "ARHGAP4_000106" "g.153174581T>C" "" "" "" "ARHGAP4(NM_001164741.1):c.2670A>G (p.G890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810075" "0" "50" "X" "153171160" "153171168" "del" "0" "01943" "AVPR2_000023" "g.153171160_153171168del" "" "" "" "AVPR2(NM_001146151.2):c.200_208delGGCGGGGCC (p.R67_G69del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810076" "0" "30" "X" "153171434" "153171434" "subst" "0.0000924727" "01943" "ARHGAP4_000110" "g.153171434G>A" "" "" "" "AVPR2(NM_001146151.2):c.474G>A (p.R158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810077" "0" "30" "X" "153172137" "153172137" "subst" "0" "01943" "ARHGAP4_000111" "g.153172137C>T" "" "" "" "AVPR2(NM_000054.5):c.1071C>T (p.S357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810078" "0" "50" "X" "153174538" "153174538" "subst" "0.0000112621" "01943" "ARHGAP4_000112" "g.153174538C>T" "" "" "" "ARHGAP4(NM_001164741.1):c.2713G>A (p.V905M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813027" "0" "70" "X" "153171632" "153171632" "subst" "0" "00000" "AVPR2_000064" "g.153171632C>A" "" "{PMID:Ehrenberg 2019:31814694}" "" "RPGR (NM_001034853.1; OMIM: 312610): c.2272G>T; p.Glu758* (hemi) (RP), AVPR2 (NM_000054.5; OMIM: 300538): c.672C>A; p.Cys224* (hemi) (DI), STRC (NM_153700.2; OMIM: 606440) – CATSPER2 (NM_172095.3; OMIM: 607249) del (hom) (H" "hemizygous" "Germline" "yes" "" "0" "" "" "g.153906178C>A" "" "likely pathogenic" "" "0000827881" "0" "70" "X" "153171298" "153171298" "subst" "0" "00000" "AVPR2_000065" "g.153171298G>A" "" "{PMID:Zacchia 2021:33964006}" "" "AVPR2 c.338G>A, p.R113Q" "hemizygous; solved" "Unknown" "?" "" "0" "" "" "g.153905844G>A" "" "likely pathogenic" "ACMG" "0000856425" "0" "90" "X" "153171871" "153171871" "subst" "0" "02325" "AVPR2_000041" "g.153171871G>A" "" "" "" "AVPR2(NM_000054.7):c.910+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856426" "0" "30" "X" "153174539" "153174539" "subst" "0.0000957299" "01943" "ARHGAP4_000118" "g.153174539G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2712C>T (p.H904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856427" "0" "30" "X" "153175501" "153175501" "subst" "0.00001694" "01943" "ARHGAP4_000119" "g.153175501G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2315C>T (p.P772L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867179" "0" "10" "X" "153170995" "153170995" "subst" "0.038397" "02327" "AVPR2_000003" "g.153170995G>A" "" "" "" "AVPR2(NM_000054.4):c.35G>A (p.(Gly12Glu)), AVPR2(NM_001146151.3):c.35G>A (p.G12E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867180" "0" "30" "X" "153171676" "153171676" "subst" "0" "01943" "ARHGAP4_000116" "g.153171676G>A" "" "" "" "AVPR2(NM_001146151.2):c.716G>A (p.G239E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867181" "0" "70" "X" "153172010" "153172010" "subst" "0" "01804" "AVPR2_000042" "g.153172010G>T" "" "" "" "AVPR2(NM_000054.4):c.944G>T (p.(Ser315Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000867182" "0" "10" "X" "153172059" "153172059" "subst" "0.0490008" "02327" "AVPR2_000005" "g.153172059C>T" "" "" "" "AVPR2(NM_000054.6):c.993C>T (p.S331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867183" "0" "30" "X" "153173199" "153173199" "subst" "0.000123431" "01943" "ARHGAP4_000117" "g.153173199G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2945C>T (p.T982I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867184" "0" "30" "X" "153175843" "153175843" "subst" "0.000024466" "01943" "ARHGAP4_000120" "g.153175843G>A" "" "" "" "ARHGAP4(NM_001164741.1):c.2058C>T (p.S686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873577" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "198" "{PMID:Sun 2018:30076350}" "" "AVPR2(NM_000054.4)whole gene deletion" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873614" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "222" "{PMID:Sun 2018:30076350}" "" "AVPR2(NM_000054.4):whole gene deletion" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000873634" "0" "70" "X" "153171369" "153171369" "subst" "0.00000580818" "00000" "AVPR2_000030" "g.153171369C>T" "237" "{PMID:Sun 2018:30076350}" "" "AVPR2(NM_000054.4):c.409C>T(p.R137C)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.153905915C>T" "" "likely pathogenic" "" "0000895989" "0" "50" "X" "153171395" "153171395" "subst" "0" "02327" "ARHGAP4_000122" "g.153171395G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915636" "0" "30" "X" "153171704" "153171715" "del" "0" "02326" "AVPR2_000011" "g.153171704_153171715del" "" "" "" "AVPR2(NM_000054.6):c.744_755delCAGGGGACGCCG (p.R249_R252del), AVPR2(NM_001146151.2):c.744_755delCAGGGGACGCCG (p.R249_R252del), AVPR2(NM_001146151....)" "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 AVPR2 ## Count = 126 "{{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}}" "0000002222" "00000673" "50" "-153" "0" "-152" "0" "c.-153_-152insC" "" "p.(=)" "" "0000008044" "00000673" "50" "26" "-6" "26" "-6" "c.26-6T>G" "r.(=)" "p.(=)" "" "0000010214" "00000673" "50" "-153" "0" "-152" "0" "c.-153_-152insC" "" "p.(=)" "" "0000010215" "00000673" "50" "26" "-6" "26" "-6" "c.26-6T>G" "r.(=)" "p.(=)" "" "0000248206" "00000673" "10" "927" "0" "927" "0" "c.927A>G" "r.(?)" "p.(Leu309=)" "" "0000250576" "00000673" "50" "4123" "0" "4123" "0" "c.*3007A>G" "r.(=)" "p.(=)" "" "0000250909" "00000673" "10" "927" "0" "927" "0" "c.927A>G" "r.(?)" "p.(Leu309=)" "" "0000259572" "00000673" "30" "744" "0" "755" "0" "c.744_755del" "r.(?)" "p.(Arg249_Arg252del)" "" "0000261345" "00000673" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Cys)" "" "0000261346" "00000673" "10" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Glu)" "" "0000261347" "00000673" "70" "491" "0" "491" "0" "c.491G>T" "r.(?)" "p.(Trp164Leu)" "" "0000261348" "00000673" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000262869" "00000673" "30" "5121" "0" "5121" "0" "c.*4005G>C" "r.(=)" "p.(=)" "" "0000262870" "00000673" "30" "4455" "0" "4455" "0" "c.*3339G>A" "r.(=)" "p.(=)" "" "0000262872" "00000673" "50" "2347" "0" "2347" "0" "c.*1231C>T" "r.(=)" "p.(=)" "" "0000263462" "00000673" "30" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Gly352Asp)" "" "0000263463" "00000673" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000263464" "00000673" "30" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Ala114Thr)" "" "0000263465" "00000673" "30" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Arg247His)" "" "0000263466" "00000673" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Asp297=)" "" "0000336109" "00000673" "50" "3856" "0" "3856" "0" "c.*2740G>A" "r.(=)" "p.(=)" "" "0000337270" "00000673" "30" "-5" "0" "-5" "0" "c.-5C>A" "r.(?)" "p.(=)" "" "0000337271" "00000673" "10" "26" "-6" "26" "-6" "c.26-6T>G" "r.(=)" "p.(=)" "" "0000337272" "00000673" "90" "910" "1" "910" "1" "c.910+1G>A" "r.spl?" "p.?" "" "0000341148" "00000673" "90" "394" "0" "394" "0" "c.394G>C" "r.(?)" "p.(Ala132Pro)" "" "0000341748" "00000673" "70" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Arg113Trp)" "" "0000341885" "00000673" "90" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Cys)" "" "0000341887" "00000673" "90" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137His)" "" "0000342112" "00000673" "90" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Arg181Cys)" "" "0000342198" "00000673" "70" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Arg202Cys)" "" "0000342667" "00000673" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Ter)" "" "0000345008" "00000673" "70" "275" "0" "275" "0" "c.275A>T" "r.(?)" "p.(Gln92Leu)" "" "0000345811" "00000673" "90" "553" "0" "553" "0" "c.553G>T" "r.(?)" "p.(Gly185Cys)" "" "0000346166" "00000673" "50" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Gly56Asp)" "" "0000347176" "00000673" "70" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Leu44Phe)" "" "0000348931" "00000673" "50" "944" "0" "944" "0" "c.944G>T" "r.(?)" "p.(Ser315Ile)" "" "0000348932" "00000673" "70" "954" "0" "954" "0" "c.954C>G" "r.(?)" "p.(Ser318Arg)" "" "0000349776" "00000673" "90" "968" "0" "968" "0" "c.968G>A" "r.(?)" "p.(Trp323Ter)" "" "0000350447" "00000673" "50" "828" "0" "833" "0" "c.828_833del" "r.(?)" "p.(Val278_Val279del)" "" "0000350686" "00000673" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" "" "0000393027" "00000673" "50" "1017" "0" "1017" "0" "c.1017G>A" "r.(=)" "p.(=)" "" "0000393028" "00000673" "50" "117" "0" "117" "0" "c.117G>A" "r.(=)" "p.(=)" "" "0000393029" "00000673" "50" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Glu)" "" "0000393030" "00000673" "50" "927" "0" "927" "0" "c.927A>G" "r.(=)" "p.(=)" "" "0000393031" "00000673" "50" "993" "0" "993" "0" "c.993C>T" "r.(=)" "p.(=)" "" "0000408064" "00000673" "00" "-459794" "0" "438840" "0" "c.-459794_*437724dup" "r.0?" "p.0?" "" "0000574416" "00000673" "10" "26" "-6" "26" "-6" "c.26-6T>G" "r.(=)" "p.(=)" "" "0000574417" "00000673" "10" "26" "-6" "26" "-6" "c.26-6T>G" "r.(=)" "p.(=)" "" "0000574418" "00000673" "30" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Glu)" "" "0000574419" "00000673" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Glu26Lys)" "" "0000574420" "00000673" "70" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Asp85Asn)" "" "0000574421" "00000673" "30" "317" "0" "317" "0" "c.317G>A" "r.(?)" "p.(Arg106His)" "" "0000574422" "00000673" "50" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Cys)" "" "0000574424" "00000673" "30" "485" "0" "485" "0" "c.485T>C" "r.(?)" "p.(Val162Ala)" "" "0000574425" "00000673" "30" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Arg251His)" "" "0000574426" "00000673" "30" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000574427" "00000673" "30" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Val279Ile)" "" "0000574428" "00000673" "10" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Leu339=)" "" "0000574429" "00000673" "30" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Gly352Asp)" "" "0000574430" "00000673" "50" "1444" "0" "1444" "0" "c.*328G>A" "r.(=)" "p.(=)" "" "0000574431" "00000673" "30" "2136" "0" "2136" "0" "c.*1020G>A" "r.(=)" "p.(=)" "" "0000574432" "00000673" "30" "2190" "0" "2190" "0" "c.*1074C>T" "r.(=)" "p.(=)" "" "0000574433" "00000673" "30" "2217" "0" "2217" "0" "c.*1101C>A" "r.(=)" "p.(=)" "" "0000574435" "00000673" "50" "3842" "0" "3842" "0" "c.*2726C>G" "r.(=)" "p.(=)" "" "0000574436" "00000673" "30" "3868" "0" "3868" "0" "c.*2752T>G" "r.(=)" "p.(=)" "" "0000574437" "00000673" "30" "3927" "0" "3927" "0" "c.*2811C>T" "r.(=)" "p.(=)" "" "0000574438" "00000673" "30" "4602" "0" "4602" "0" "c.*3486C>T" "r.(=)" "p.(=)" "" "0000574439" "00000673" "10" "4679" "0" "4679" "0" "c.*3563C>T" "r.(=)" "p.(=)" "" "0000574440" "00000673" "30" "4718" "0" "4718" "0" "c.*3602G>A" "r.(=)" "p.(=)" "" "0000574442" "00000673" "30" "5212" "0" "5212" "0" "c.*4096T>C" "r.(=)" "p.(=)" "" "0000574446" "00000673" "10" "5311" "0" "5311" "0" "c.*4195T>C" "r.(=)" "p.(=)" "" "0000574447" "00000673" "50" "5535" "0" "5535" "0" "c.*4419G>A" "r.(=)" "p.(=)" "" "0000619190" "00000673" "30" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ala147=)" "" "0000619191" "00000673" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asn182=)" "" "0000619192" "00000673" "30" "744" "0" "755" "0" "c.744_755del" "r.(?)" "p.(Arg249_Arg252del)" "" "0000619193" "00000673" "90" "1002" "0" "1002" "0" "c.1002dup" "r.(?)" "p.(Glu335ArgfsTer22)" "" "0000619194" "00000673" "10" "1055" "0" "1055" "0" "c.1055G>A" "r.(?)" "p.(Gly352Asp)" "" "0000619195" "00000673" "30" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Ser371Leu)" "" "0000652822" "00000673" "70" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000652823" "00000673" "70" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Gln225*)" "" "0000652824" "00000673" "70" "752" "0" "758" "0" "c.752_758del" "r.(?)" "p.(Arg251Glnfs*18)" "" "0000659162" "00000673" "50" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Trp)" "" "0000659163" "00000673" "70" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Leu161Pro)" "" "0000659164" "00000673" "30" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Met)" "" "0000659165" "00000673" "50" "3883" "0" "3883" "0" "c.*2767C>A" "r.(=)" "p.(=)" "" "0000659166" "00000673" "30" "4722" "0" "4722" "0" "c.*3606G>A" "r.(=)" "p.(=)" "" "0000659167" "00000673" "30" "4735" "0" "4735" "0" "c.*3619G>A" "r.(=)" "p.(=)" "" "0000673563" "00000673" "90" "963" "0" "963" "0" "c.963C>A" "r.(?)" "p.(Asn321Lys)" "" "0000682227" "00000673" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" "" "0000682228" "00000673" "30" "3505" "0" "3505" "0" "c.*2389G>A" "r.(=)" "p.(=)" "" "0000682229" "00000673" "30" "3926" "0" "3926" "0" "c.*2810G>A" "r.(=)" "p.(=)" "" "0000682231" "00000673" "30" "4573" "0" "4573" "0" "c.*3457G>A" "r.(=)" "p.(=)" "" "0000682232" "00000673" "30" "4684" "0" "4684" "0" "c.*3568C>T" "r.(=)" "p.(=)" "" "0000682233" "00000673" "30" "5170" "0" "5170" "0" "c.*4054G>A" "r.(=)" "p.(=)" "" "0000693439" "00000673" "30" "975" "0" "975" "0" "c.975T>C" "r.(?)" "p.(Tyr325=)" "" "0000693440" "00000673" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Leu339=)" "" "0000693441" "00000673" "30" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Arg346Cys)" "" "0000693442" "00000673" "30" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346His)" "" "0000693443" "00000673" "30" "4123" "0" "4123" "0" "c.*3007A>G" "r.(=)" "p.(=)" "" "0000693444" "00000673" "30" "4131" "0" "4131" "0" "c.*3015G>T" "r.(=)" "p.(=)" "" "0000693445" "00000673" "50" "4303" "0" "4303" "0" "c.*3187C>T" "r.(=)" "p.(=)" "" "0000712640" "00000673" "50" "742" "0" "742" "0" "c.742C>T" "r.(?)" "p.(Arg248Cys)" "" "0000728583" "00000673" "30" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ala39=)" "" "0000728584" "00000673" "30" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" "" "0000728585" "00000673" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000728586" "00000673" "30" "3515" "0" "3515" "0" "c.*2399T>C" "r.(=)" "p.(=)" "" "0000810075" "00000673" "50" "200" "0" "208" "0" "c.200_208del" "r.(?)" "p.(Arg67_Gly69del)" "" "0000810076" "00000673" "30" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Arg158=)" "" "0000810077" "00000673" "30" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Ser357=)" "" "0000810078" "00000673" "50" "3472" "0" "3472" "0" "c.*2356C>T" "r.(=)" "p.(=)" "" "0000813027" "00000673" "70" "672" "0" "672" "0" "c.672C>A" "r.(?)" "p.(Cys224*)" "" "0000827881" "00000673" "70" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Arg113Gln)" "" "0000856425" "00000673" "90" "910" "1" "910" "1" "c.910+1G>A" "r.spl?" "p.?" "" "0000856426" "00000673" "30" "3473" "0" "3473" "0" "c.*2357G>A" "r.(=)" "p.(=)" "" "0000856427" "00000673" "30" "4435" "0" "4435" "0" "c.*3319G>A" "r.(=)" "p.(=)" "" "0000867179" "00000673" "10" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Gly12Glu)" "" "0000867180" "00000673" "30" "716" "0" "716" "0" "c.716G>A" "r.(?)" "p.(Gly239Glu)" "" "0000867181" "00000673" "70" "944" "0" "944" "0" "c.944G>T" "r.(?)" "p.(Ser315Ile)" "" "0000867182" "00000673" "10" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Ser331=)" "" "0000867183" "00000673" "30" "2133" "0" "2133" "0" "c.*1017G>A" "r.(=)" "p.(=)" "" "0000867184" "00000673" "30" "4777" "0" "4777" "0" "c.*3661G>A" "r.(=)" "p.(=)" "" "0000873577" "00000673" "70" "-71" "0" "1554" "0" "c.(?_-71)_(*438_?)del" "r.0" "p.0" "" "0000873614" "00000673" "70" "" "0" "" "0" "c.(?_-71)_(*438del_?)" "r.0" "p.0" "" "0000873634" "00000673" "70" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Cys)" "" "0000895989" "00000673" "50" "435" "0" "435" "0" "c.435G>C" "r.(?)" "p.(Met145Ile)" "" "0000915636" "00000673" "30" "744" "0" "755" "0" "c.744_755del" "r.(?)" "p.(Arg249_Arg252del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002222" "0000000209" "0000008044" "0000000210" "0000010214" "0000000210" "0000010215" "0000173170" "0000393027" "0000173171" "0000393028" "0000173172" "0000393029" "0000173173" "0000393030" "0000173174" "0000393031" "0000184095" "0000408064" "0000296133" "0000652822" "0000296134" "0000652823" "0000296135" "0000652824" "0000307026" "0000673563" "0000328674" "0000712640" "0000385854" "0000813027" "0000396312" "0000827881" "0000415711" "0000873577" "0000415735" "0000873614" "0000415750" "0000873634"