### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = INVS) # 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}}" "INVS" "inversin" "9" "q31" "unknown" "NG_008316.1" "UD_132118529949" "" "https://www.LOVD.nl/INVS" "" "1" "17870" "27130" "243305" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) 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/INVS_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00002" "2012-02-13 00:00:00" "00006" "2020-11-25 18:47:20" "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}}" "00025583" "INVS" "transcript variant 1" "005" "NM_014425.3" "" "NP_055240.2" "" "" "" "-221" "3668" "3198" "102861502" "103063426" "00006" "2020-11-25 18:48:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00374" "NPHP1" "nephronophthisis, type 1" "AR" "256100" "" "" "" "00006" "2014-05-02 09:58:21" "00006" "2022-01-23 12:29:39" "02414" "NPHP2" "nephronophthisis, type 2 (NPHP-2)" "AR" "602088" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "INVS" "02414" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00000026" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00033115" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00294694" "" "" "" "102" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294695" "" "" "" "74" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294696" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294697" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294698" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305212" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00377911" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "" "" "" "" "" "0" "" "" "" "" "00377912" "" "" "" "1" "" "00000" "{PMID:Chaki 2011:21422230}" "" "" "" "" "" "0" "" "" "" "" "00385225" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "" "" "00385231" "" "" "" "1" "" "00000" "{PMID:Redin-2012:22773737}" "" "" "" "" "" "0" "" "" "Melanesian" "" "00399799" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "657" "00399800" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "885" "00407372" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "France" "" "0" "" "" "" "A128" "00407373" "" "" "" "1" "" "00000" "{PMID:Otto 2008:18076122}" "" "?" "no" "United States" "" "0" "" "" "" "A205" "00407647" "" "" "" "1" "" "00000" "{PMID:Kang 2016:27491411}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "J-12" "00418830" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F281, individual II-1" "" "" "Germany" "" "0" "" "" "" "F281_II-1" "00418833" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F 897, individual II-3" "" "" "Germany" "" "0" "" "" "" "F 897_II-3" "00418835" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F443, individual II-1" "" "" "Finland" "" "0" "" "" "" "F443_II-1" "00418836" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F443, individual II-4" "" "" "Finland" "" "0" "" "" "" "F443_II-4" "00418837" "" "" "" "1" "" "00000" "{PMID:Hoefele 2007:17855640}" "family F390, individual II-1" "" "" "Turkey" "" "0" "" "" "" "F390_II-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00000094" "00114" "00033115" "04214" "00294694" "00198" "00294695" "00198" "00294696" "00198" "00294697" "00198" "00294698" "00198" "00305212" "00198" "00377911" "04214" "00377912" "04214" "00385225" "04214" "00385231" "04214" "00399799" "06892" "00399800" "06892" "00407372" "04214" "00407373" "04214" "00407647" "04214" "00418830" "00374" "00418833" "00374" "00418835" "00374" "00418836" "00374" "00418837" "00374" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00114, 00198, 00374, 02414, 04214, 06892 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000026544" "04214" "00033115" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273057" "04214" "00377911" "00000" "Unknown" "1y" "" "" "" "" "" "" "" "" "" "" "" "" "infantile Nephronophthisis" "" "0000273058" "04214" "00377912" "00000" "Unknown" "1y6m" "" "" "" "" "" "" "" "" "" "" "" "" "infantile Nephronophthisis" "" "0000279021" "04214" "00385225" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "BardetBiedl Syndrome (BBS)" "" "0000279027" "04214" "00385231" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "BardetBiedl Syndrome (BBS)" "" "0000299726" "04214" "00407372" "00000" "Familial, autosomal recessive" "<1y" "extrarenal manifestations: hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299727" "04214" "00407373" "00000" "Familial, autosomal recessive" "<2y" "extrarenal manifestations: mild liver fibrosis" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000299794" "04214" "00407647" "00000" "Familial, autosomal recessive" "" "end-stage renal disease (years): 1.9, extra-renal manifestations: none" "" "" "" "" "" "" "" "" "" "" "nephronophthisis-related ciliopathy" "" "" "0000310127" "00374" "00418830" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 16y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310130" "00374" "00418833" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: extrarenal manifestations: cerebellar vermis hypoplasia" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310132" "00374" "00418835" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 22y; extrarenal manifestations: ulcerative colitis" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310133" "00374" "00418836" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 19y; extrarenal manifestations: retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" "0000310134" "00374" "00418837" "00000" "Familial, autosomal recessive" "" "age at end-stage renal failure: 1y; extrarenal manifestations: liver fibrosis, infantile nephronophthisis" "" "" "" "" "" "" "" "" "" "" "nephronophthisis" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000026" "00000026" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000094" "00000094" "1" "00004" "" "2012-05-11 13:19:21" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000033183" "00033115" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000295862" "00294694" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295863" "00294695" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295864" "00294696" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295865" "00294697" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295866" "00294698" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306341" "00305212" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000379115" "00377911" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000379116" "00377912" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ" "DNA" "blood" "" "0000386454" "00385225" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000386460" "00385231" "1" "00000" "00008" "2021-10-09 03:44:00" "" "" "arrayCNV;SEQ" "DNA" "blood" "" "0000401042" "00399799" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401043" "00399800" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408620" "00407372" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP17" "0000408621" "00407373" "1" "00000" "03840" "2022-04-06 14:28:33" "" "" "SEQ" "DNA" "blood" "genes: NPHP1-NPHP18" "0000408899" "00407647" "1" "00000" "03840" "2022-04-07 15:22:18" "" "" "SEQ-NG-I" "DNA" "" "targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD" "0000420127" "00418830" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420130" "00418833" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420132" "00418835" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420133" "00418836" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" "0000420134" "00418837" "1" "00000" "03840" "2022-10-07 15:55:50" "" "" "PCR" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{geneid}}" "0000000026" "AMPD1" "0000000026" "ATP7B" "0000000026" "CBS" "0000000026" "CPT1A" "0000000026" "ETFB" "0000000026" "GLB1" "0000000026" "GRHPR" "0000000026" "HEXB" "0000000026" "INVS" "0000000026" "MECP2" "0000000026" "MEFV" "0000000026" "NHLRC1" "0000000026" "NPHS1" "0000000026" "NTRK1" "0000000026" "SERPINA1" "0000000026" "SLC26A2" "0000000094" "AHI1" "0000000094" "ARSB" "0000000094" "ATP7B" "0000000094" "BTD" "0000000094" "ENPP1" "0000000094" "ETFB" "0000000094" "GCDH" "0000000094" "GLB1" "0000000094" "INVS" "0000000094" "MYO5A" "0000000094" "NPHS1" "0000000094" "SERPINA1" "0000000094" "SMPD1" "0000033183" "INVS" "0000033183" "PDE6B" "0000379115" "INVS" "0000379116" "INVS" "0000386454" "AHI1" "0000386460" "ALMS1" "0000408620" "INVS" "0000408621" "INVS" "0000408899" "INVS" "0000420127" "INVS" "0000420130" "INVS" "0000420132" "INVS" "0000420133" "INVS" "0000420134" "INVS" ## 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 = 107 "{{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}}" "0000001290" "0" "50" "9" "103046765" "103046765" "subst" "0.0040226" "00002" "INVS_000001" "g.103046765G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100284483G>C" "" "VUS" "" "0000001291" "0" "50" "9" "103046765" "103046765" "subst" "0.0040226" "00002" "INVS_000001" "g.103046765G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.100284483G>C" "" "VUS" "" "0000059946" "1" "10" "9" "103046765" "103046765" "subst" "0.0040226" "00229" "INVS_000001" "g.103046765G>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.100284483G>C" "" "benign" "" "0000059947" "1" "50" "9" "103062894" "103062896" "dup" "0" "00229" "INVS_000002" "g.103062894_103062896dup" "" "{PMID:Neveling 2012:22334370}" "" "3138insTTC" "" "Germline" "no" "" "0" "" "" "g.100300612_100300614dup" "" "VUS" "" "0000251433" "0" "10" "9" "102888941" "102888941" "subst" "0" "02326" "INVS_000007" "g.102888941A>T" "" "" "" "INVS(NM_014425.5):c.273+110A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100126659A>T" "" "benign" "" "0000251434" "0" "10" "9" "103035124" "103035124" "del" "0" "02326" "INVS_000016" "g.103035124del" "" "" "" "INVS(NM_014425.5):c.1572-22delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100272842del" "" "benign" "" "0000254439" "0" "30" "9" "103046797" "103046797" "subst" "0.00101508" "01943" "INVS_000019" "g.103046797A>G" "" "" "" "INVS(NM_014425.4):c.1980A>G (p.G660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100284515A>G" "" "likely benign" "" "0000256375" "0" "50" "9" "103004888" "103004888" "subst" "0" "01943" "INVS_000011" "g.103004888A>G" "" "" "" "INVS(NM_014425.4):c.833A>G (p.N278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100242606A>G" "" "VUS" "" "0000278079" "0" "10" "9" "103027240" "103027242" "del" "0" "02330" "INVS_000014" "g.103027240_103027242del" "" "" "" "INVS(NM_014425.5):c.1571+30_1571+32delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100264958_100264960del" "" "benign" "" "0000278080" "0" "10" "9" "103027242" "103027242" "del" "0" "02330" "INVS_000013" "g.103027242del" "" "" "" "INVS(NM_014425.5):c.1571+32delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100264960del" "" "benign" "" "0000278082" "0" "50" "9" "103046654" "103046654" "subst" "2.06613E-5" "02330" "INVS_000018" "g.103046654C>T" "" "" "" "INVS(NM_014425.5):c.1837C>T (p.R613W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100284372C>T" "" "VUS" "" "0000278083" "0" "30" "9" "103054590" "103054592" "del" "0" "02330" "INVS_000020" "g.103054590_103054592del" "" "" "" "INVS(NM_014425.5):c.2069-18_2069-16delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100292308_100292310del" "" "likely benign" "" "0000278084" "0" "10" "9" "103054849" "103054849" "subst" "0.000838418" "02330" "INVS_000021" "g.103054849C>T" "" "" "" "INVS(NM_014425.4):c.2310C>T (p.H770=), INVS(NM_014425.5):c.2310C>T (p.H770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100292567C>T" "" "benign" "" "0000278085" "0" "10" "9" "103055182" "103055182" "subst" "4.06415E-5" "02330" "INVS_000023" "g.103055182T>C" "" "" "" "INVS(NM_014425.5):c.2643T>C (p.P881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100292900T>C" "" "benign" "" "0000278086" "0" "10" "9" "103055314" "103055314" "subst" "0.000253772" "02330" "INVS_000025" "g.103055314C>T" "" "" "" "INVS(NM_014425.5):c.2775C>T (p.R925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100293032C>T" "" "benign" "" "0000278087" "0" "10" "9" "103059313" "103059313" "subst" "0" "02330" "INVS_000027" "g.103059313G>A" "" "" "" "INVS(NM_014425.5):c.2901G>A (p.K967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100297031G>A" "" "benign" "" "0000281555" "0" "10" "9" "103015184" "103015184" "subst" "0.309" "02325" "INVS_000012" "g.103015184T>C" "" "" "" "INVS(NM_014425.4):c.1235-5T>C, INVS(NM_014425.5):c.1235-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100252902T>C" "" "benign" "" "0000281556" "0" "10" "9" "103060386" "103060386" "subst" "0.703775" "02325" "INVS_000030" "g.103060386T>G" "" "" "" "INVS(NM_014425.5):c.3091+94T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100298104T>G" "" "benign" "" "0000285317" "0" "10" "9" "102888877" "102888877" "subst" "0.0372099" "02326" "INVS_000006" "g.102888877C>T" "" "" "" "INVS(NM_014425.5):c.273+46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100126595C>T" "" "benign" "" "0000289682" "0" "30" "9" "102866905" "102866905" "subst" "0.00145417" "01943" "INVS_000004" "g.102866905C>T" "" "" "" "INVS(NM_014425.4):c.102C>T (p.I34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104623C>T" "" "likely benign" "" "0000289683" "0" "50" "9" "102888676" "102888676" "subst" "0.000406332" "01943" "INVS_000005" "g.102888676C>G" "" "" "" "INVS(NM_014425.4):c.118C>G (p.L40V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100126394C>G" "" "VUS" "" "0000289684" "0" "10" "9" "103015184" "103015184" "subst" "0.309" "01943" "INVS_000012" "g.103015184T>C" "" "" "" "INVS(NM_014425.4):c.1235-5T>C, INVS(NM_014425.5):c.1235-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100252902T>C" "" "benign" "" "0000289685" "0" "30" "9" "103035366" "103035366" "subst" "2.84872E-5" "01943" "INVS_000017" "g.103035366T>C" "" "" "" "INVS(NM_014425.4):c.1784+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100273084T>C" "" "likely benign" "" "0000289686" "0" "30" "9" "103054849" "103054849" "subst" "0.000838418" "01943" "INVS_000021" "g.103054849C>T" "" "" "" "INVS(NM_014425.4):c.2310C>T (p.H770=), INVS(NM_014425.5):c.2310C>T (p.H770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100292567C>T" "" "likely benign" "" "0000289687" "0" "10" "9" "103054941" "103054941" "subst" "0.0275425" "01943" "INVS_000022" "g.103054941G>A" "" "" "" "INVS(NM_014425.4):c.2402G>A (p.G801E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100292659G>A" "" "benign" "" "0000289688" "0" "30" "9" "103055191" "103055191" "subst" "4.06336E-6" "01943" "INVS_000024" "g.103055191C>A" "" "" "" "INVS(NM_014425.4):c.2652C>A (p.L884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100292909C>A" "" "likely benign" "" "0000289689" "0" "10" "9" "102988329" "102988330" "del" "0.101258" "01943" "INVS_000008" "g.102988329_102988330del" "" "" "" "INVS(NM_014425.4):c.274-15_274-14delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100226047_100226048del" "" "benign" "" "0000289690" "0" "30" "9" "103059278" "103059278" "subst" "8.12367E-6" "01943" "INVS_000026" "g.103059278G>A" "" "" "" "INVS(NM_014425.4):c.2866G>A (p.E956K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100296996G>A" "" "likely benign" "" "0000332719" "0" "30" "9" "102866870" "102866870" "subst" "0.000296478" "01804" "INVS_000003" "g.102866870G>A" "" "" "" "INVS(NM_014425.3):c.67G>A (p.(Val23Ile)), INVS(NM_014425.4):c.67G>A (p.V23I), INVS(NM_014425.5):c.67G>A (p.V23I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100104588G>A" "" "likely benign" "" "0000332722" "0" "50" "9" "103060254" "103060254" "subst" "0" "01804" "INVS_000028" "g.103060254G>C" "" "" "" "INVS(NM_014425.3):c.3053G>C (p.(Arg1018Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100297972G>C" "" "VUS" "" "0000343163" "0" "90" "9" "103046624" "103046624" "subst" "8.31504E-6" "02327" "INVS_000031" "g.103046624C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100284342C>T" "" "pathogenic" "" "0000535631" "0" "50" "9" "102988437" "102988437" "subst" "0.000199213" "01943" "TEX10_000001" "g.102988437C>T" "" "" "" "INVS(NM_001318381.1):c.79C>T (p.R27W), INVS(NM_014425.5):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100226155C>T" "" "VUS" "" "0000535633" "0" "10" "9" "103002466" "103002466" "subst" "0.00489021" "02330" "TEX10_000003" "g.103002466A>G" "" "" "" "INVS(NM_001318381.1):c.452A>G (p.N151S), INVS(NM_014425.4):c.740A>G (p.N247S), INVS(NM_014425.5):c.740A>G (p.N247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100240184A>G" "" "benign" "" "0000535634" "0" "50" "9" "103002466" "103002466" "subst" "0.00489021" "01943" "TEX10_000003" "g.103002466A>G" "" "" "" "INVS(NM_001318381.1):c.452A>G (p.N151S), INVS(NM_014425.4):c.740A>G (p.N247S), INVS(NM_014425.5):c.740A>G (p.N247S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100240184A>G" "" "VUS" "" "0000535636" "0" "30" "9" "103009002" "103009002" "subst" "4.06359E-6" "01943" "TEX10_000004" "g.103009002C>T" "" "" "" "INVS(NM_001318381.1):c.723C>T (p.V241=), INVS(NM_001318381.2):c.723C>T (p.V241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100246720C>T" "" "likely benign" "" "0000535637" "0" "50" "9" "103015347" "103015347" "subst" "0" "02330" "TEX10_000005" "g.103015347T>C" "" "" "" "INVS(NM_014425.5):c.1393T>C (p.Y465H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100253065T>C" "" "VUS" "" "0000535639" "0" "10" "9" "103027241" "103027242" "del" "0" "02330" "TEX10_000007" "g.103027241_103027242del" "" "" "" "INVS(NM_014425.5):c.1571+31_1571+32delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100264959_100264960del" "" "benign" "" "0000535642" "0" "30" "9" "103046760" "103046760" "subst" "0.000216016" "01943" "TEX10_000009" "g.103046760A>G" "" "" "" "INVS(NM_001318381.1):c.1655A>G (p.N552S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100284478A>G" "" "likely benign" "" "0000535643" "0" "30" "9" "103046765" "103046765" "subst" "0.0040226" "01804" "INVS_000001" "g.103046765G>C" "" "" "" "INVS(NM_001318381.1):c.1660G>C (p.A554P), INVS(NM_014425.3):c.1948G>C (p.(Ala650Pro)), INVS(NM_014425.5):c.1948G>C (p.A650P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100284483G>C" "" "likely benign" "" "0000535644" "0" "30" "9" "103054933" "103054933" "subst" "1.22995E-5" "01943" "TEX10_000010" "g.103054933C>G" "" "" "" "INVS(NM_001318381.1):c.2106C>G (p.L702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100292651C>G" "" "likely benign" "" "0000535646" "0" "10" "9" "103054951" "103054951" "subst" "0.454701" "01943" "TEX10_000011" "g.103054951T>C" "" "" "" "INVS(NM_014425.4):c.2412T>C (p.S804=), INVS(NM_014425.5):c.2412T>C (p.S804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100292669T>C" "" "benign" "" "0000535647" "0" "10" "9" "103054951" "103054951" "subst" "0.454701" "02325" "TEX10_000011" "g.103054951T>C" "" "" "" "INVS(NM_014425.4):c.2412T>C (p.S804=), INVS(NM_014425.5):c.2412T>C (p.S804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100292669T>C" "" "benign" "" "0000535648" "0" "10" "9" "103059215" "103059215" "subst" "0.0026008" "02330" "TEX10_000012" "g.103059215C>T" "" "" "" "INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2803C>T (p.H935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100296933C>T" "" "benign" "" "0000535649" "0" "50" "9" "103059215" "103059215" "subst" "0.0026008" "01943" "TEX10_000012" "g.103059215C>T" "" "" "" "INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2803C>T (p.H935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100296933C>T" "" "VUS" "" "0000535650" "0" "30" "9" "103059215" "103059215" "subst" "0.0026008" "01804" "TEX10_000012" "g.103059215C>T" "" "" "" "INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2803C>T (p.H935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100296933C>T" "" "likely benign" "" "0000535651" "0" "10" "9" "103059215" "103059215" "subst" "0.0026008" "02326" "TEX10_000012" "g.103059215C>T" "" "" "" "INVS(NM_014425.3):c.2803C>T (p.(His935Tyr)), INVS(NM_014425.4):c.2803C>T (p.H935Y), INVS(NM_014425.5):c.2803C>T (p.H935Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100296933C>T" "" "benign" "" "0000535652" "0" "10" "9" "103060213" "103060213" "subst" "0.00278599" "02330" "TEX10_000013" "g.103060213T>G" "" "" "" "INVS(NM_014425.4):c.3017-5T>G, INVS(NM_014425.5):c.3017-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100297931T>G" "" "benign" "" "0000535653" "0" "30" "9" "103060213" "103060213" "subst" "0.00278599" "01943" "TEX10_000013" "g.103060213T>G" "" "" "" "INVS(NM_014425.4):c.3017-5T>G, INVS(NM_014425.5):c.3017-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100297931T>G" "" "likely benign" "" "0000535654" "0" "30" "9" "103060213" "103060213" "subst" "0.00278599" "01804" "TEX10_000013" "g.103060213T>G" "" "" "" "INVS(NM_014425.4):c.3017-5T>G, INVS(NM_014425.5):c.3017-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100297931T>G" "" "likely benign" "" "0000535655" "0" "30" "9" "103060229" "103060229" "subst" "8.93437E-5" "01943" "TEX10_000014" "g.103060229G>A" "" "" "" "INVS(NM_001318381.1):c.2740G>A (p.E914K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100297947G>A" "" "likely benign" "" "0000535656" "0" "50" "9" "103062940" "103062940" "dup" "0" "02330" "TEX10_000015" "g.103062940dup" "" "" "" "INVS(NM_014425.5):c.3182dupA (p.N1061Kfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100300658dup" "" "VUS" "" "0000611750" "0" "30" "9" "102866870" "102866870" "subst" "0.000296478" "01943" "INVS_000003" "g.102866870G>A" "" "" "" "INVS(NM_014425.3):c.67G>A (p.(Val23Ile)), INVS(NM_014425.4):c.67G>A (p.V23I), INVS(NM_014425.5):c.67G>A (p.V23I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100104588G>A" "" "likely benign" "" "0000611751" "0" "50" "9" "102991972" "102991972" "subst" "4.0626E-6" "01943" "TEX10_000016" "g.102991972A>G" "" "" "" "INVS(NM_001318381.1):c.190A>G (p.N64D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100229690A>G" "" "VUS" "" "0000611752" "0" "10" "9" "103015238" "103015238" "subst" "0.000837657" "02330" "TEX10_000017" "g.103015238T>C" "" "" "" "INVS(NM_014425.5):c.1284T>C (p.H428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100252956T>C" "" "benign" "" "0000611753" "0" "30" "9" "103055081" "103055081" "subst" "0" "01943" "TEX10_000018" "g.103055081T>G" "" "" "" "INVS(NM_001318381.1):c.2254T>G (p.L752V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100292799T>G" "" "likely benign" "" "0000652551" "1" "50" "9" "102861568" "102861568" "subst" "0" "03575" "INVS_000023" "g.102861568C>T" "102/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "102 heterozygous, no homozygous; {DB:CLININrs62577237}" "Germline" "" "rs62577237" "0" "" "" "g.100099286C>T" "" "VUS" "" "0000652552" "1" "30" "9" "102888877" "102888877" "subst" "0.0372099" "03575" "INVS_000006" "g.102888877C>T" "74/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "74 heterozygous; {DB:CLININrs76975466}" "Germline" "" "rs76975466" "0" "" "" "g.100126595C>T" "" "likely benign" "" "0000652553" "1" "10" "9" "103002451" "103002451" "subst" "0.0047479" "03575" "TEX10_000002" "g.103002451C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs2491097}" "Germline" "" "rs2491097" "0" "" "" "g.100240169C>T" "" "benign" "" "0000652554" "1" "30" "9" "103008904" "103008904" "subst" "0.000301136" "03575" "INVS_000024" "g.103008904G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs116438342}" "Germline" "" "rs116438342" "0" "" "" "g.100246622G>A" "" "likely benign" "" "0000652555" "1" "30" "9" "103054941" "103054941" "subst" "0.0275425" "03575" "INVS_000022" "g.103054941G>A" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs76868679}" "Germline" "" "rs76868679" "0" "" "" "g.100292659G>A" "" "likely benign" "" "0000656167" "0" "50" "9" "102988354" "102988354" "subst" "5.74897E-5" "01943" "INVS_000009" "g.102988354G>A" "" "" "" "INVS(NM_014425.4):c.284G>A (p.R95H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100226072G>A" "" "VUS" "" "0000670029" "3" "30" "9" "102888877" "102888877" "subst" "0.0372099" "03575" "INVS_000006" "g.102888877C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs76975466}" "Germline" "" "rs76975466" "0" "" "" "g.100126595C>T" "" "likely benign" "" "0000678470" "0" "70" "9" "102988344" "102988344" "subst" "0" "02330" "TEX10_000019" "g.102988344G>T" "" "" "" "INVS(NM_014425.5):c.274G>T (p.G92*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678471" "0" "70" "9" "103014603" "103014603" "del" "0" "02330" "TEX10_000020" "g.103014603del" "" "" "" "INVS(NM_001318381.2):c.829delG (p.V277*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690342" "0" "30" "9" "102888672" "102888672" "subst" "6.50179E-5" "02326" "TEX10_000021" "g.102888672T>C" "" "" "" "INVS(NM_014425.5):c.114T>C (p.S38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690343" "0" "50" "9" "103046688" "103046688" "subst" "0" "01943" "TEX10_000022" "g.103046688C>T" "" "" "" "INVS(NM_001318381.1):c.1583C>T (p.P528L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690344" "0" "30" "9" "103060228" "103060228" "subst" "0.000856888" "02326" "TEX10_000023" "g.103060228C>T" "" "" "" "INVS(NM_001318381.1):c.2739C>T (p.H913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722135" "0" "30" "9" "102866870" "102866870" "subst" "0.000296478" "02326" "INVS_000003" "g.102866870G>A" "" "" "" "INVS(NM_014425.3):c.67G>A (p.(Val23Ile)), INVS(NM_014425.4):c.67G>A (p.V23I), INVS(NM_014425.5):c.67G>A (p.V23I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722136" "0" "50" "9" "102988437" "102988437" "subst" "0.000199213" "02325" "TEX10_000001" "g.102988437C>T" "" "" "" "INVS(NM_001318381.1):c.79C>T (p.R27W), INVS(NM_014425.5):c.367C>T (p.R123W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722137" "0" "50" "9" "102992109" "102992109" "subst" "4.06954E-6" "01943" "TEX10_000024" "g.102992109G>A" "" "" "" "INVS(NM_001318381.1):c.327G>A (p.L109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722138" "0" "50" "9" "103002391" "103002391" "subst" "4.06134E-6" "01943" "TEX10_000025" "g.103002391G>A" "" "" "" "INVS(NM_001318381.1):c.377G>A (p.R126Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722139" "0" "50" "9" "103035181" "103035181" "subst" "4.06111E-6" "01943" "TEX10_000026" "g.103035181G>A" "" "" "" "INVS(NM_001318381.1):c.1319G>A (p.R440H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722140" "0" "10" "9" "103046765" "103046765" "subst" "0.0040226" "02326" "INVS_000001" "g.103046765G>C" "" "" "" "INVS(NM_001318381.1):c.1660G>C (p.A554P), INVS(NM_014425.3):c.1948G>C (p.(Ala650Pro)), INVS(NM_014425.5):c.1948G>C (p.A650P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722141" "0" "90" "9" "103046885" "103046885" "subst" "0" "01943" "TEX10_000027" "g.103046885G>T" "" "" "" "INVS(NM_001318381.1):c.1780G>T (p.E594*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722142" "0" "30" "9" "103055225" "103055225" "subst" "8.12526E-6" "01943" "TEX10_000028" "g.103055225G>C" "" "" "" "INVS(NM_001318381.1):c.2398G>C (p.V800L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000792197" "3" "50" "9" "103055255" "103055255" "subst" "0" "00000" "INVS_000032" "g.103055255G>T" "" "{PMID:Chaki 2011:21422230}" "" "INVS:c.2716G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000792198" "3" "50" "9" "103055255" "103055255" "subst" "0" "00000" "INVS_000032" "g.103055255G>T" "" "{PMID:Chaki 2011:21422230}" "" "INVS:c.2716G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000803794" "0" "90" "9" "103002398" "103002398" "del" "0" "01943" "TEX10_000029" "g.103002398del" "" "" "" "INVS(NM_001318381.1):c.384delT (p.L129Ffs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803795" "0" "90" "9" "103035300" "103035300" "subst" "4.06124E-6" "02327" "TEX10_000030" "g.103035300C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803796" "0" "50" "9" "103046765" "103046765" "subst" "0.0040226" "01943" "INVS_000001" "g.103046765G>C" "" "" "" "INVS(NM_001318381.1):c.1660G>C (p.A554P), INVS(NM_014425.3):c.1948G>C (p.(Ala650Pro)), INVS(NM_014425.5):c.1948G>C (p.A650P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803797" "0" "90" "9" "103055234" "103055234" "subst" "4.87591E-5" "02327" "TEX10_000031" "g.103055234C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000813977" "0" "50" "9" "102988434" "102988434" "subst" "8.12916E-6" "00000" "INVS_000033" "g.102988434A>C" "" "{PMID:Redin-2012:22773737}" "" "c.[364A>C];[=]" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000813988" "3" "50" "9" "103062934" "103062935" "ins" "0.000134454" "00000" "INVS_000034" "g.103062934_103062935insA" "" "{PMID:Redin-2012:22773737}" "" "c.[3176_3177insA]" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000834085" "21" "50" "9" "103046760" "103046760" "subst" "0.000216016" "00006" "TEX10_000009" "g.103046760A>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1943(exon13)A>G" "" "Germline" "" "rs116686341" "0" "" "" "g.100284478A>G" "" "VUS" "ACMG" "0000834086" "11" "90" "9" "103059299" "103059299" "subst" "0" "00006" "INVS_000037" "g.103059299C>T" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.2887(exon15)C>T" "" "Germline" "" "rs1425211517" "0" "" "" "g.100297017C>T" "" "pathogenic" "ACMG" "0000834145" "11" "50" "9" "103055225" "103055225" "subst" "0.000130004" "00006" "INVS_000036" "g.103055225G>A" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.2686(exon14)G>A" "" "Germline" "" "rs114847355" "0" "" "" "g.100292943G>A" "" "VUS" "ACMG" "0000834146" "21" "70" "9" "103027209" "103027210" "del" "0" "00006" "INVS_000035" "g.103027209_103027210del" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1566(exon11)_c.1567(exon11)delAG" "" "Germline" "" "" "0" "" "" "g.100264927_100264928del" "" "likely pathogenic" "ACMG" "0000845569" "21" "70" "9" "103015407" "103015407" "del" "8.16327E-5" "00000" "INVS_000039" "g.103015407del" "" "{PMID:Otto 2008:18076122}" "" "NPHP2 c.1453delC, p.Q485fsX509" "heterozygous" "Germline" "yes" "" "0" "" "" "g.100253125del" "" "likely pathogenic" "" "0000845570" "3" "70" "9" "103055234" "103055234" "subst" "4.87591E-5" "00000" "TEX10_000031" "g.103055234C>T" "" "{PMID:Otto 2008:18076122}" "" "NPHP2 c.2695C>T, p.R899X" "homozygous" "Unknown" "?" "" "0" "" "" "g.100292952C>T" "" "likely pathogenic" "" "0000845591" "11" "70" "9" "103046876" "103046876" "del" "0" "00000" "INVS_000040" "g.103046876del" "" "{PMID:Otto 2008:18076122}" "" "NPHP2 c.2059delA , p.R687fsX742" "heterozygous" "Germline" "yes" "" "0" "" "" "g.100284594del" "" "likely pathogenic" "" "0000845904" "0" "70" "9" "103002447" "103002447" "subst" "0" "00000" "INVS_000038" "g.103002447A>T" "" "{PMID:Kang 2016:27491411}" "" "INVS/NPHP2 c.721A>T, p.Thr241Ser" "single heterozygous variant in a recessive disease; no second causative allele found" "Unknown" "?" "" "0" "" "" "g.100240165A>T" "" "likely pathogenic" "" "0000852040" "0" "30" "9" "102888795" "102888795" "subst" "4.06276E-6" "01943" "TEX10_000032" "g.102888795T>G" "" "" "" "INVS(NM_014425.4):c.237T>G (p.H79Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852041" "0" "30" "9" "103054590" "103054592" "del" "0" "02326" "INVS_000020" "g.103054590_103054592del" "" "" "" "INVS(NM_014425.5):c.2069-18_2069-16delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852042" "0" "10" "9" "103054655" "103054655" "subst" "0.000921917" "02326" "TEX10_000033" "g.103054655A>G" "" "" "" "INVS(NM_014425.5):c.2116A>G (p.R706G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861319" "0" "30" "9" "103055315" "103055315" "subst" "9.82898E-5" "01804" "TEX10_000034" "g.103055315G>A" "" "" "" "INVS(NM_001318381.1):c.2488G>A (p.(Ala830Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861320" "0" "30" "9" "103060213" "103060213" "subst" "0.00278599" "02326" "TEX10_000013" "g.103060213T>G" "" "" "" "INVS(NM_014425.4):c.3017-5T>G, INVS(NM_014425.5):c.3017-5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861321" "0" "30" "9" "103060281" "103060281" "subst" "3.65607E-5" "02326" "TEX10_000035" "g.103060281G>A" "" "" "" "INVS(NM_014425.5):c.3080G>A (p.R1027H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880426" "0" "50" "9" "103046765" "103046765" "subst" "0.0040226" "00000" "INVS_000001" "g.103046765G>C" "" "{PMID:Hoefele 2007:17855640}" "" "INVS c.1948G>C, p.(Ala650Pro)" "double heterozygous, two different NPHP genes" "Germline/De novo (untested)" "?" "" "0" "" "" "g.100284483G>C" "" "VUS" "" "0000880429" "21" "50" "9" "103008904" "103008904" "subst" "0.000301136" "00000" "INVS_000024" "g.103008904G>A" "" "{PMID:Hoefele 2007:17855640}" "" "INVS c.913G>A, p.(Val305Ile)" "single heterozygous, no second allele found" "Germline" "?" "" "0" "" "" "g.100246622G>A" "" "VUS" "" "0000880431" "11" "50" "9" "103046765" "103046765" "subst" "0.0040226" "00000" "INVS_000001" "g.103046765G>C" "" "{PMID:Hoefele 2007:17855640}" "" "INVS c.1948G>C, p.(Ala650Pro)" "single heterozygous, no second allele found" "Germline" "?" "" "0" "" "" "g.100284483G>C" "" "VUS" "" "0000880432" "21" "50" "9" "103008904" "103008904" "subst" "0.000301136" "00000" "INVS_000024" "g.103008904G>A" "" "{PMID:Hoefele 2007:17855640}" "" "INVS c.913G>A, p.(Val305Ile)" "single heterozygous, no second allele found" "Germline" "?" "" "0" "" "" "g.100246622G>A" "" "VUS" "" "0000880433" "0" "50" "9" "103027177" "103027177" "subst" "0" "00000" "INVS_000041" "g.103027177C>G" "" "{PMID:Hoefele 2007:17855640}" "" "INVS c.1538GC> , p.(Ala513Gly)" "single heterozygous, no second allele found" "Germline/De novo (untested)" "?" "" "0" "" "" "g.100264895C>G" "" "VUS" "" "0000888500" "0" "30" "9" "103009002" "103009002" "subst" "4.06359E-6" "02330" "TEX10_000004" "g.103009002C>T" "" "" "" "INVS(NM_001318381.1):c.723C>T (p.V241=), INVS(NM_001318381.2):c.723C>T (p.V241=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913008" "0" "30" "9" "103055314" "103055314" "subst" "0.000253772" "02326" "INVS_000025" "g.103055314C>T" "" "" "" "INVS(NM_014425.5):c.2775C>T (p.R925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949133" "0" "30" "9" "103008904" "103008904" "subst" "0.000301136" "02326" "INVS_000024" "g.103008904G>A" "" "" "" "INVS(NM_014425.5):c.913G>A (p.V305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949134" "0" "30" "9" "103054849" "103054849" "subst" "0.000838418" "02326" "INVS_000021" "g.103054849C>T" "" "" "" "INVS(NM_014425.4):c.2310C>T (p.H770=), INVS(NM_014425.5):c.2310C>T (p.H770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949135" "0" "90" "9" "103055321" "103055321" "subst" "2.05271E-5" "02326" "TEX10_000036" "g.103055321C>T" "" "" "" "INVS(NM_014425.5):c.2782C>T (p.R928*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 INVS ## Count = 107 "{{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}}" "0000001290" "00025583" "50" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000001291" "00025583" "50" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000059946" "00025583" "10" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "13" "0000059947" "00025583" "50" "3135" "0" "3137" "0" "c.3135_3137dup" "r.(?)" "p.(Ser1046dup)" "17" "0000251433" "00025583" "10" "273" "110" "273" "110" "c.273+110A>T" "r.(=)" "p.(=)" "" "0000251434" "00025583" "10" "1572" "-22" "1572" "-22" "c.1572-22del" "r.(=)" "p.(=)" "" "0000254439" "00025583" "30" "1980" "0" "1980" "0" "c.1980A>G" "r.(?)" "p.(Gly660=)" "" "0000256375" "00025583" "50" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Asn278Ser)" "" "0000278079" "00025583" "10" "1571" "30" "1571" "32" "c.1571+30_1571+32del" "r.(=)" "p.(=)" "" "0000278080" "00025583" "10" "1571" "32" "1571" "32" "c.1571+32del" "r.(=)" "p.(=)" "" "0000278082" "00025583" "50" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Trp)" "" "0000278083" "00025583" "30" "2069" "-18" "2069" "-16" "c.2069-18_2069-16del" "r.(=)" "p.(=)" "" "0000278084" "00025583" "10" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(His770=)" "" "0000278085" "00025583" "10" "2643" "0" "2643" "0" "c.2643T>C" "r.(?)" "p.(Pro881=)" "" "0000278086" "00025583" "10" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Arg925=)" "" "0000278087" "00025583" "10" "2901" "0" "2901" "0" "c.2901G>A" "r.(?)" "p.(Lys967=)" "" "0000281555" "00025583" "10" "1235" "-5" "1235" "-5" "c.1235-5T>C" "r.spl?" "p.?" "" "0000281556" "00025583" "10" "3091" "94" "3091" "94" "c.3091+94T>G" "r.(=)" "p.(=)" "" "0000285317" "00025583" "10" "273" "46" "273" "46" "c.273+46C>T" "r.(=)" "p.(=)" "" "0000289682" "00025583" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(Ile34=)" "" "0000289683" "00025583" "50" "118" "0" "118" "0" "c.118C>G" "r.(?)" "p.(Leu40Val)" "" "0000289684" "00025583" "10" "1235" "-5" "1235" "-5" "c.1235-5T>C" "r.spl?" "p.?" "" "0000289685" "00025583" "30" "1784" "8" "1784" "8" "c.1784+8T>C" "r.(=)" "p.(=)" "" "0000289686" "00025583" "30" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(His770=)" "" "0000289687" "00025583" "10" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Gly801Glu)" "" "0000289688" "00025583" "30" "2652" "0" "2652" "0" "c.2652C>A" "r.(?)" "p.(Leu884=)" "" "0000289689" "00025583" "10" "274" "-15" "274" "-14" "c.274-15_274-14del" "r.(=)" "p.(=)" "" "0000289690" "00025583" "30" "2866" "0" "2866" "0" "c.2866G>A" "r.(?)" "p.(Glu956Lys)" "" "0000332719" "00025583" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000332722" "00025583" "50" "3053" "0" "3053" "0" "c.3053G>C" "r.(?)" "p.(Arg1018Thr)" "" "0000343163" "00025583" "90" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Ter)" "" "0000535631" "00025583" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000535633" "00025583" "10" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Asn247Ser)" "" "0000535634" "00025583" "50" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Asn247Ser)" "" "0000535636" "00025583" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Val337=)" "" "0000535637" "00025583" "50" "1393" "0" "1393" "0" "c.1393T>C" "r.(?)" "p.(Tyr465His)" "" "0000535639" "00025583" "10" "1571" "31" "1571" "32" "c.1571+31_1571+32del" "r.(=)" "p.(=)" "" "0000535642" "00025583" "30" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Asn648Ser)" "" "0000535643" "00025583" "30" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000535644" "00025583" "30" "2394" "0" "2394" "0" "c.2394C>G" "r.(?)" "p.(Leu798=)" "" "0000535646" "00025583" "10" "2412" "0" "2412" "0" "c.2412T>C" "r.(?)" "p.(Ser804=)" "" "0000535647" "00025583" "10" "2412" "0" "2412" "0" "c.2412T>C" "r.(?)" "p.(Ser804=)" "" "0000535648" "00025583" "10" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(His935Tyr)" "" "0000535649" "00025583" "50" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(His935Tyr)" "" "0000535650" "00025583" "30" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(His935Tyr)" "" "0000535651" "00025583" "10" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(His935Tyr)" "" "0000535652" "00025583" "10" "3017" "-5" "3017" "-5" "c.3017-5T>G" "r.spl?" "p.?" "" "0000535653" "00025583" "30" "3017" "-5" "3017" "-5" "c.3017-5T>G" "r.spl?" "p.?" "" "0000535654" "00025583" "30" "3017" "-5" "3017" "-5" "c.3017-5T>G" "r.spl?" "p.?" "" "0000535655" "00025583" "30" "3028" "0" "3028" "0" "c.3028G>A" "r.(?)" "p.(Glu1010Lys)" "" "0000535656" "00025583" "50" "3182" "0" "3182" "0" "c.3182dup" "r.(?)" "p.(Asn1061LysfsTer20)" "" "0000611750" "00025583" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000611751" "00025583" "50" "478" "0" "478" "0" "c.478A>G" "r.(?)" "p.(Asn160Asp)" "" "0000611752" "00025583" "10" "1284" "0" "1284" "0" "c.1284T>C" "r.(?)" "p.(His428=)" "" "0000611753" "00025583" "30" "2542" "0" "2542" "0" "c.2542T>G" "r.(?)" "p.(Leu848Val)" "" "0000652551" "00025583" "50" "-155" "0" "-155" "0" "c.-155C>T" "r.(=)" "p.(=)" "" "0000652552" "00025583" "30" "273" "46" "273" "46" "c.273+46C>T" "r.(=)" "p.(=)" "" "0000652553" "00025583" "10" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ser242Leu)" "" "0000652554" "00025583" "30" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Ile)" "" "0000652555" "00025583" "30" "2402" "0" "2402" "0" "c.2402G>A" "r.(?)" "p.(Gly801Glu)" "" "0000656167" "00025583" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95His)" "" "0000670029" "00025583" "30" "273" "46" "273" "46" "c.273+46C>T" "r.(=)" "p.(=)" "" "0000678470" "00025583" "70" "274" "0" "274" "0" "c.274G>T" "r.(?)" "p.(Gly92Ter)" "" "0000678471" "00025583" "70" "1117" "0" "1117" "0" "c.1117del" "r.(?)" "p.(Val373Ter)" "" "0000690342" "00025583" "30" "114" "0" "114" "0" "c.114T>C" "r.(?)" "p.(Ser38=)" "" "0000690343" "00025583" "50" "1871" "0" "1871" "0" "c.1871C>T" "r.(?)" "p.(Pro624Leu)" "" "0000690344" "00025583" "30" "3027" "0" "3027" "0" "c.3027C>T" "r.(?)" "p.(His1009=)" "" "0000722135" "00025583" "30" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Val23Ile)" "" "0000722136" "00025583" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123Trp)" "" "0000722137" "00025583" "50" "615" "0" "615" "0" "c.615G>A" "r.(?)" "p.(Leu205=)" "" "0000722138" "00025583" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222Gln)" "" "0000722139" "00025583" "50" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Arg536His)" "" "0000722140" "00025583" "10" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000722141" "00025583" "90" "2068" "0" "2068" "0" "c.2068G>T" "r.(?)" "p.(Glu690*)" "" "0000722142" "00025583" "30" "2686" "0" "2686" "0" "c.2686G>C" "r.(?)" "p.(Val896Leu)" "" "0000792197" "00025583" "50" "2716" "0" "2716" "0" "c.2716G>T" "r.(?)" "p.(Glu906*)" "14" "0000792198" "00025583" "50" "2716" "0" "2716" "0" "c.2716G>T" "r.(?)" "p.(Glu906*)" "14" "0000803794" "00025583" "90" "672" "0" "672" "0" "c.672del" "r.(?)" "p.(Leu225Phefs*10)" "" "0000803795" "00025583" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576*)" "" "0000803796" "00025583" "50" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000803797" "00025583" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899*)" "" "0000813977" "00025583" "50" "364" "0" "364" "0" "c.364A>C" "r.(?)" "p.(Thr122Pro)" "4" "0000813988" "00025583" "50" "3176" "0" "3177" "0" "c.3176_3177insA" "r.(?)" "p.(Asn1061Lysfs*20)" "17" "0000834085" "00025583" "50" "1943" "0" "1943" "0" "c.1943A>G" "r.(?)" "p.(Asn648Ser)" "13" "0000834086" "00025583" "90" "2887" "0" "2887" "0" "c.2887C>T" "r.(?)" "p.(Gln963Ter)" "15" "0000834145" "00025583" "50" "2686" "0" "2686" "0" "c.2686G>A" "r.(?)" "p.(Val896Ile)" "14" "0000834146" "00025583" "70" "1570" "0" "1571" "0" "c.1570_1571del" "r.(?)" "p.(Arg524IlefsTer5)" "11" "0000845569" "00025583" "70" "1453" "0" "1453" "0" "c.1453delC" "r.(?)" "p.(Gln485LysfsTer25)" "" "0000845570" "00025583" "70" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000845591" "00025583" "70" "2059" "0" "2059" "0" "c.2059delA" "r.(?)" "p.(Arg687GlyfsTer56)" "" "0000845904" "00025583" "70" "721" "0" "721" "0" "c.721A>T" "r.(?)" "p.(Thr241Ser)" "" "0000852040" "00025583" "30" "237" "0" "237" "0" "c.237T>G" "r.(?)" "p.(His79Gln)" "" "0000852041" "00025583" "30" "2069" "-18" "2069" "-16" "c.2069-18_2069-16del" "r.(=)" "p.(=)" "" "0000852042" "00025583" "10" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Arg706Gly)" "" "0000861319" "00025583" "30" "2776" "0" "2776" "0" "c.2776G>A" "r.(?)" "p.(Ala926Thr)" "" "0000861320" "00025583" "30" "3017" "-5" "3017" "-5" "c.3017-5T>G" "r.spl?" "p.?" "" "0000861321" "00025583" "30" "3080" "0" "3080" "0" "c.3080G>A" "r.(?)" "p.(Arg1027His)" "" "0000880426" "00025583" "50" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000880429" "00025583" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Ile)" "" "0000880431" "00025583" "50" "1948" "0" "1948" "0" "c.1948G>C" "r.(?)" "p.(Ala650Pro)" "" "0000880432" "00025583" "50" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Ile)" "" "0000880433" "00025583" "50" "" "0" "" "0" "c.1538GC>" "r.(?)" "p.(Ala513Gly)" "" "0000888500" "00025583" "30" "1011" "0" "1011" "0" "c.1011C>T" "r.(?)" "p.(Val337=)" "" "0000913008" "00025583" "30" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Arg925=)" "" "0000949133" "00025583" "30" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Val305Ile)" "" "0000949134" "00025583" "30" "2310" "0" "2310" "0" "c.2310C>T" "r.(?)" "p.(His770=)" "" "0000949135" "00025583" "90" "2782" "0" "2782" "0" "c.2782C>T" "r.(?)" "p.(Arg928*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000000026" "0000001291" "0000000094" "0000001290" "0000033183" "0000059946" "0000033183" "0000059947" "0000295862" "0000652551" "0000295863" "0000652552" "0000295864" "0000652553" "0000295865" "0000652554" "0000295866" "0000652555" "0000306341" "0000670029" "0000379115" "0000792197" "0000379116" "0000792198" "0000386454" "0000813977" "0000386460" "0000813988" "0000401042" "0000834085" "0000401042" "0000834145" "0000401043" "0000834086" "0000401043" "0000834146" "0000408620" "0000845569" "0000408620" "0000845591" "0000408621" "0000845570" "0000408899" "0000845904" "0000420127" "0000880426" "0000420130" "0000880429" "0000420132" "0000880431" "0000420133" "0000880432" "0000420134" "0000880433"