### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COL4A2) # 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}}" "COL4A2" "collagen, type IV, alpha 2" "13" "q34" "unknown" "NG_032137.2" "UD_132319744299" "" "https://www.LOVD.nl/COL4A2" "" "1" "2203" "1284" "120090" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/COL4A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-07-26 10:14:35" "00000" "2025-11-01 13:22:20" ## 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}}" "00005460" "COL4A2" "collagen, type IV, alpha 2" "001" "NM_001846.2" "" "NP_001837.2" "" "" "" "-289" "5975" "5139" "110959631" "111165374" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00256" "ICH" "hemorrhage, intracerebral, susceptibility to (ICH)" "" "614519" "" "" "" "00006" "2013-10-20 21:24:24" "00006" "2016-07-05 08:24:40" "03661" "BSVD2;POREN2" "brain small vessel disease, type 2 (BSVD2);porencephaly type 2 (POREN2)" "AD" "614483" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-21 11:49:40" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "COL4A2" "00139" "COL4A2" "00256" "COL4A2" "03661" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00146558" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00248404" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00269343" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00290838" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290839" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296453" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" "00299440" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00363527" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "177212" "00374273" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4386" "00410583" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat45" "00436135" "" "" "" "2" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "2-generation family, affected father/son, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam5Pat1" "00436136" "" "" "00436135" "1" "" "00006" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "father" "M" "" "" "" "0" "" "" "" "Fam5Pat2" "00448541" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "288388" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00146558" "00198" "00269343" "00198" "00290838" "00198" "00290839" "00198" "00296453" "03661" "00299440" "00198" "00363527" "03661" "00374273" "00198" "00410583" "00198" "00436135" "05611" "00436136" "05611" "00448541" "03661" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00256, 03661, 05611 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000119299" "00198" "00146558" "01807" "Unknown" "" "HP:0001249 (Intellectual disability)" "" "" "" "" "" "" "" "" "" "" "" "0000187398" "00198" "00248404" "01164" "Unknown" "" "HP:0002321 (Vertigo); HP:0002355 (Difficulty walking); HP:0003698 (Difficulty standing); HP:0011389 (Functional abnormality of the inner ear); HP:0004302 (Functional motor problems)" "" "" "" "" "" "" "" "" "" "" "" "0000207175" "00198" "00269343" "01164" "Unknown" "" "Cerebral hemorrhage (HP:0001342)" "" "" "" "" "" "" "" "" "" "" "" "0000226750" "00198" "00299440" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Generalized tonic-clonic seizures (HP:0002069); Status epilepticus (HP:0002133); Focal seizures (HP:0007359)" "" "" "" "" "" "" "" "" "" "" "" "0000258876" "03661" "00363527" "01164" "Unknown" "" "Dystonic movement disorder, severe generalised dystonia, scoliosis, epilepsy (myoclonic), porencephaly, cognition less affected than motor function, no speech, no voluntary motor function, sister with mild porencephaly" "" "12y" "" "" "" "" "" "" "" "" "" "0000269483" "00198" "00374273" "00006" "Familial, autosomal dominant" "" "Signs suggestive of Charcot-Marie-Tooth disease" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000302686" "00198" "00410583" "00006" "Familial, autosomal dominant" "" "see paper; ..., onset childhood, cerebral white matter lesions, epilepsy, mild intellectual disability, family history" "" "" "" "" "" "" "" "" "BSVD2" "" "" "0000326319" "05611" "00436135" "00006" "Familial" "8y" "onset infancy; neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; CAKUT (ureter duplex, dysplastic kidneys); no neonatal hypotonia; no feeding difficulties infancy; mild speech delay; no motor delay; no learning disabilities; elementary school; no intellectual disability; no epilepsy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000326320" "05611" "00436136" "00006" "Unknown" ">30y" "neurodevelopmental delay; no obesity; no hyperphagia; no diabetes; leuko-encephalopathy; neurogenic bladder;" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000337724" "03661" "00448541" "01164" "Unknown" "02y" "Cerebral palsy, Hemiparesis, Periventricular leukomalacia, Ventriculomegaly, Esodeviation, Delayed speech and language development, Delayed gross motor development, EEG with focal sharp waves, Abnormality of refraction, Symptomatic seizures" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000147413" "00146558" "0" "01807" "01807" "2017-12-29 11:38:58" "" "" "SEQ" "DNA" "" "" "0000249508" "00248404" "1" "01164" "01164" "2019-07-23 17:05:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000270485" "00269343" "1" "01164" "01164" "2019-11-20 18:18:25" "" "" "SEQ-NG-S" "DNA" "" "" "0000292006" "00290838" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292007" "00290839" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297563" "00296453" "1" "01741" "01741" "2020-04-06 14:17:30" "" "" "SEQ-NG" "DNA" "" "" "0000300550" "00299440" "1" "01164" "01164" "2020-04-16 09:57:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000364755" "00363527" "1" "01164" "01164" "2021-04-29 12:22:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000375467" "00374273" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000411848" "00410583" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES trio" "0000437616" "00436135" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000437617" "00436136" "1" "00006" "00006" "2023-08-16 11:42:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450129" "00448541" "1" "01164" "01164" "2024-04-04 14:37:05" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000297563" "COL4A1" "0000297563" "COL4A2" "0000364755" "COL4A2" "0000375467" "COL4A2" "0000450129" "COL4A2" ## 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 = 354 "{{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}}" "0000240209" "0" "50" "13" "111009900" "111009900" "subst" "0" "01807" "COL4A2_000001" "g.111009900G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.110357553G>A" "" "VUS" "" "0000249184" "0" "10" "13" "111158874" "111158874" "subst" "0.828869" "02325" "COL4A2_000099" "g.111158874A>G" "" "" "" "COL4A2(NM_001846.3):c.4515A>G (p.P1505=), COL4A2(NM_001846.4):c.4515A>G (p.P1505=), COL4A2-AS1(NR_046583.1):n.186+1120T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110506527A>G" "" "benign" "" "0000250729" "0" "30" "13" "111143601" "111143601" "subst" "0.00920085" "02326" "COL4A2_000073" "g.111143601A>G" "" "" "" "COL4A2(NM_001846.2):c.3368A>G (p.(Glu1123Gly)), COL4A2(NM_001846.3):c.3368A>G (p.E1123G), COL4A2(NM_001846.4):c.3368A>G (p.E1123G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110491254A>G" "" "likely benign" "" "0000253081" "0" "10" "13" "111143601" "111143601" "subst" "0.00920085" "01943" "COL4A2_000073" "g.111143601A>G" "" "" "" "COL4A2(NM_001846.2):c.3368A>G (p.(Glu1123Gly)), COL4A2(NM_001846.3):c.3368A>G (p.E1123G), COL4A2(NM_001846.4):c.3368A>G (p.E1123G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110491254A>G" "" "benign" "" "0000253229" "0" "10" "13" "111158874" "111158874" "subst" "0.828869" "01943" "COL4A2_000099" "g.111158874A>G" "" "" "" "COL4A2(NM_001846.3):c.4515A>G (p.P1505=), COL4A2(NM_001846.4):c.4515A>G (p.P1505=), COL4A2-AS1(NR_046583.1):n.186+1120T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110506527A>G" "" "benign" "" "0000253867" "0" "10" "13" "111109670" "111109670" "subst" "0.0101078" "01943" "COL4A2_000040" "g.111109670A>C" "" "" "" "COL4A2(NM_001846.2):c.1340-20A>C (p.(=)), COL4A2(NM_001846.3):c.1340-20A>C, COL4A2(NM_001846.4):c.1340-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110457323A>C" "" "benign" "" "0000253868" "0" "10" "13" "111137240" "111137240" "subst" "0.158381" "01943" "COL4A2_000121" "g.111137240A>G" "" "" "" "COL4A2(NM_001846.3):c.2903-12A>G, COL4A2(NM_001846.4):c.2903-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110484893A>G" "" "benign" "" "0000253869" "0" "10" "13" "111142139" "111142139" "subst" "0.0020436" "01943" "COL4A2_000071" "g.111142139A>G" "" "" "" "COL4A2(NM_001846.2):c.3346+7A>G (p.(=)), COL4A2(NM_001846.3):c.3346+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110489792A>G" "" "benign" "" "0000254245" "0" "30" "13" "111090991" "111090991" "subst" "0.00232286" "01943" "COL4A2_000025" "g.111090991A>G" "" "" "" "COL4A2(NM_001846.2):c.888A>G (p.(Gly296=)), COL4A2(NM_001846.3):c.888A>G (p.G296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110438644A>G" "" "likely benign" "" "0000255280" "0" "30" "13" "111082319" "111082319" "subst" "2.76253E-5" "01943" "COL4A2_000016" "g.111082319A>T" "" "" "" "COL4A2(NM_001846.3):c.549+16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110429972A>T" "" "likely benign" "" "0000256191" "0" "50" "13" "111121570" "111121570" "subst" "0.0188532" "01943" "COL4A2_000058" "g.111121570A>G" "" "" "" "COL4A2(NM_001846.2):c.2102A>G (p.(Lys701Arg)), COL4A2(NM_001846.3):c.2102A>G (p.K701R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110469223A>G" "" "VUS" "" "0000256339" "0" "50" "13" "111130361" "111130361" "subst" "1.36302E-5" "01943" "COL4A2_000062" "g.111130361A>T" "" "" "" "COL4A2(NM_001846.2):c.2437A>T (p.(Met813Leu)), COL4A2(NM_001846.3):c.2437A>T (p.M813L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110478014A>T" "" "VUS" "" "0000266960" "0" "10" "13" "111098226" "111098226" "subst" "0.510622" "02325" "COL4A2_000030" "g.111098226C>T" "" "" "" "COL4A2(NM_001846.3):c.1008C>T (p.P336=), COL4A2(NM_001846.4):c.1008C>T (p.P336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110445879C>T" "" "benign" "" "0000266961" "0" "10" "13" "111111173" "111111173" "subst" "0.520798" "02325" "COL4A2_000043" "g.111111173G>A" "" "" "" "COL4A2(NM_001846.3):c.1488G>A (p.P496=), COL4A2(NM_001846.4):c.1488G>A (p.P496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110458826G>A" "" "benign" "" "0000266962" "0" "10" "13" "111111235" "111111235" "subst" "0.523827" "02325" "COL4A2_000045" "g.111111235G>A" "" "" "" "COL4A2(NM_001846.3):c.1550G>A (p.R517K), COL4A2(NM_001846.4):c.1550G>A (p.R517K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110458888G>A" "" "benign" "" "0000266963" "0" "50" "13" "111114675" "111114675" "subst" "2.84428E-5" "02325" "COL4A2_000052" "g.111114675G>A" "" "" "" "COL4A2(NM_001846.2):c.1720G>A (p.(Asp574Asn)), COL4A2(NM_001846.3):c.1720G>A (p.D574N), COL4A2(NM_001846.4):c.1720G>A (p.D574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110462328G>A" "" "VUS" "" "0000266964" "0" "10" "13" "111119396" "111119396" "subst" "0.108028" "02325" "COL4A2_000057" "g.111119396G>C" "" "" "" "COL4A2(NM_001846.3):c.2048G>C (p.G683A), COL4A2(NM_001846.4):c.2048G>C (p.G683A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110467049G>C" "" "benign" "" "0000266965" "0" "10" "13" "111132556" "111132556" "subst" "0.308755" "02325" "COL4A2_000064" "g.111132556C>T" "" "" "" "COL4A2(NM_001846.3):c.2588-11C>T, COL4A2(NM_001846.4):c.2588-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110480209C>T" "" "benign" "" "0000266966" "0" "10" "13" "111134858" "111134858" "subst" "0.172235" "02325" "COL4A2_000065" "g.111134858T>C" "" "" "" "COL4A2(NM_001846.3):c.2759-5T>C, COL4A2(NM_001846.4):c.2759-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110482511T>C" "" "benign" "" "0000266967" "0" "10" "13" "111077197" "111077197" "subst" "0.964345" "02325" "COL4A2_000007" "g.111077197G>A" "" "" "" "COL4A2(NM_001846.4):c.297G>A (p.T99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110424850G>A" "" "benign" "" "0000266968" "0" "10" "13" "111154058" "111154058" "subst" "0.986332" "02325" "COL4A2_000082" "g.111154058T>A" "" "" "" "COL4A2(NM_001846.3):c.3804T>A (p.P1268=), COL4A2(NM_001846.4):c.3804T>A (p.P1268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110501711T>A" "" "benign" "" "0000266969" "0" "10" "13" "111154061" "111154061" "subst" "0.986336" "02325" "COL4A2_000083" "g.111154061T>C" "" "" "" "COL4A2(NM_001846.3):c.3807T>C (p.G1269=), COL4A2(NM_001846.4):c.3807T>C (p.G1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110501714T>C" "" "benign" "" "0000266970" "0" "10" "13" "111156499" "111156499" "subst" "0.985842" "02325" "COL4A2_000096" "g.111156499C>T" "" "" "" "COL4A2(NM_001846.3):c.4290C>T (p.F1430=), COL4A2(NM_001846.4):c.4290C>T (p.F1430=), COL4A2-AS1(NR_046583.1):n.187-1224G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110504152C>T" "" "benign" "" "0000266971" "0" "30" "13" "110960303" "110960303" "subst" "4.5082E-5" "02325" "COL4A2_000002" "g.110960303C>T" "" "" "" "COL4A2(NM_001846.4):c.44+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110307956C>T" "" "likely benign" "" "0000266972" "0" "30" "13" "111158937" "111158937" "subst" "0.00129045" "02325" "COL4A2_000100" "g.111158937G>A" "" "" "" "COL4A2(NM_001846.2):c.4578G>A (p.(Ala1526=)), COL4A2(NM_001846.3):c.4578G>A (p.A1526=), COL4A2(NM_001846.4):c.4578G>A (p.A1526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110506590G>A" "" "likely benign" "" "0000266973" "0" "30" "13" "111080930" "111080930" "subst" "1.15063E-5" "02325" "COL4A2_000013" "g.111080930C>T" "" "" "" "COL4A2(NM_001846.4):c.477C>T (p.P159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110428583C>T" "" "likely benign" "" "0000266974" "0" "10" "13" "111090924" "111090924" "subst" "0.2825" "02325" "COL4A2_000024" "g.111090924G>A" "" "" "" "COL4A2(NM_001846.4):c.862-41G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110438577G>A" "" "benign" "" "0000266975" "0" "10" "13" "111090909" "111090909" "subst" "0" "02325" "COL4A2_000023" "g.111090909T>C" "" "" "" "COL4A2(NM_001846.4):c.862-56T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110438562T>C" "" "benign" "" "0000266977" "0" "10" "13" "111155773" "111155773" "subst" "0.994337" "02325" "COL4A2_000090" "g.111155773T>C" "" "" "" "COL4A2(NM_001846.3):c.4083T>C (p.T1361=), COL4A2(NM_001846.4):c.4083T>C (p.T1361=), COL4A2-AS1(NR_046583.1):n.187-498A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503426T>C" "" "benign" "" "0000274024" "0" "10" "13" "110959356" "110959356" "subst" "0.435687" "01943" "COL4A1_000052" "g.110959356C>G" "" "" "" "COL4A1(NM_001845.5):c.19G>C (p.V7L), COL4A1(NM_001845.6):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110307009C>G" "" "benign" "" "0000274103" "0" "10" "13" "111098226" "111098226" "subst" "0.510622" "01943" "COL4A2_000030" "g.111098226C>T" "" "" "" "COL4A2(NM_001846.3):c.1008C>T (p.P336=), COL4A2(NM_001846.4):c.1008C>T (p.P336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110445879C>T" "" "benign" "" "0000274104" "0" "30" "13" "111098229" "111098229" "subst" "0.00175034" "01943" "COL4A2_000031" "g.111098229G>A" "" "" "" "COL4A2(NM_001846.2):c.1011G>A (p.(Lys337=)), COL4A2(NM_001846.3):c.1011G>A (p.K337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110445882G>A" "" "likely benign" "" "0000274105" "0" "10" "13" "111099122" "111099122" "subst" "0.74549" "01943" "COL4A2_000032" "g.111099122G>A" "" "" "" "COL4A2(NM_001846.3):c.1012-23G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110446775G>A" "" "benign" "" "0000274106" "0" "10" "13" "111099346" "111099346" "dup" "0" "01943" "COL4A2_000033" "g.111099346dup" "" "" "" "COL4A2(NM_001846.3):c.1078+135dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110446999dup" "" "benign" "" "0000274107" "0" "30" "13" "111102010" "111102010" "subst" "7.17772E-6" "01943" "COL4A2_000034" "g.111102010C>T" "" "" "" "COL4A2(NM_001846.3):c.1079-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110449663C>T" "" "likely benign" "" "0000274108" "0" "10" "13" "111102042" "111102042" "subst" "0.308434" "01943" "COL4A2_000035" "g.111102042G>A" "" "" "" "COL4A2(NM_001846.3):c.1095G>A (p.P365=), COL4A2(NM_001846.4):c.1095G>A (p.P365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110449695G>A" "" "benign" "" "0000274109" "0" "30" "13" "111102096" "111102096" "subst" "0" "01943" "COL4A2_000036" "g.111102096G>A" "" "" "" "COL4A2(NM_001846.3):c.1149G>A (p.P383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110449749G>A" "" "likely benign" "" "0000274110" "0" "10" "13" "111102126" "111102126" "subst" "0.330332" "01943" "COL4A2_000038" "g.111102126C>T" "" "" "" "COL4A2(NM_001846.3):c.1179C>T (p.I393=), COL4A2(NM_001846.4):c.1179C>T (p.I393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110449779C>T" "" "benign" "" "0000274111" "0" "50" "13" "111109762" "111109762" "subst" "0.000187639" "01943" "COL4A2_000042" "g.111109762G>A" "" "" "" "COL4A2(NM_001846.3):c.1412G>A (p.R471H), COL4A2(NM_001846.4):c.1412G>A (p.(Arg471His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110457415G>A" "" "VUS" "" "0000274112" "0" "10" "13" "111111173" "111111173" "subst" "0.520798" "01943" "COL4A2_000043" "g.111111173G>A" "" "" "" "COL4A2(NM_001846.3):c.1488G>A (p.P496=), COL4A2(NM_001846.4):c.1488G>A (p.P496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110458826G>A" "" "benign" "" "0000274113" "0" "10" "13" "111111235" "111111235" "subst" "0.523827" "01943" "COL4A2_000045" "g.111111235G>A" "" "" "" "COL4A2(NM_001846.3):c.1550G>A (p.R517K), COL4A2(NM_001846.4):c.1550G>A (p.R517K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110458888G>A" "" "benign" "" "0000274114" "0" "30" "13" "111111245" "111111245" "subst" "8.43477E-5" "01943" "COL4A2_000046" "g.111111245C>T" "" "" "" "COL4A2(NM_001846.3):c.1560C>T (p.P520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110458898C>T" "" "likely benign" "" "0000274115" "0" "30" "13" "111114453" "111114453" "subst" "0" "01943" "COL4A2_000047" "g.111114453T>A" "" "" "" "COL4A2(NM_001846.3):c.1597-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110462106T>A" "" "likely benign" "" "0000274116" "0" "30" "13" "111114487" "111114487" "subst" "2.84273E-5" "01943" "COL4A2_000048" "g.111114487C>T" "" "" "" "COL4A2(NM_001846.3):c.1623C>T (p.P541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110462140C>T" "" "likely benign" "" "0000274117" "0" "10" "13" "111114529" "111114529" "subst" "0" "01943" "COL4A2_000050" "g.111114529C>A" "" "" "" "COL4A2(NM_001846.3):c.1665C>A (p.T555=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110462182C>A" "" "benign" "" "0000274118" "0" "10" "13" "111114554" "111114554" "subst" "0.164665" "01943" "COL4A2_000051" "g.111114554G>A" "" "" "" "COL4A2(NM_001846.3):c.1669+21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110462207G>A" "" "benign" "" "0000274119" "0" "10" "13" "111114751" "111114751" "subst" "0.23065" "01943" "COL4A2_000053" "g.111114751G>A" "" "" "" "COL4A2(NM_001846.3):c.1776+20G>A, COL4A2(NM_001846.4):c.1776+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110462404G>A" "" "benign" "" "0000274120" "0" "10" "13" "111117745" "111117745" "subst" "0.529956" "01943" "COL4A2_000054" "g.111117745C>T" "" "" "" "COL4A2(NM_001846.3):c.1777-7C>T, COL4A2(NM_001846.4):c.1777-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110465398C>T" "" "benign" "" "0000274121" "0" "10" "13" "111118344" "111118344" "subst" "0.00452584" "01943" "COL4A2_000056" "g.111118344C>T" "" "" "" "COL4A2(NM_001846.2):c.1979-6C>T (p.(=)), COL4A2(NM_001846.3):c.1979-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110465997C>T" "" "benign" "" "0000274122" "0" "10" "13" "111119396" "111119396" "subst" "0.108028" "01943" "COL4A2_000057" "g.111119396G>C" "" "" "" "COL4A2(NM_001846.3):c.2048G>C (p.G683A), COL4A2(NM_001846.4):c.2048G>C (p.G683A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110467049G>C" "" "benign" "" "0000274123" "0" "10" "13" "111121620" "111121620" "subst" "0.175723" "01943" "COL4A2_000059" "g.111121620C>T" "" "" "" "COL4A2(NM_001846.3):c.2152C>T (p.P718S), COL4A2(NM_001846.4):c.2152C>T (p.P718S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110469273C>T" "" "benign" "" "0000274124" "0" "50" "13" "111121668" "111121668" "subst" "8.16718E-5" "01943" "COL4A2_000061" "g.111121668C>T" "" "" "" "COL4A2(NM_001846.3):c.2200C>T (p.P734S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110469321C>T" "" "VUS" "" "0000274125" "0" "10" "13" "111130519" "111130519" "subst" "0.374521" "01943" "COL4A2_000063" "g.111130519C>T" "" "" "" "COL4A2(NM_001846.3):c.2587+8C>T, COL4A2(NM_001846.4):c.2587+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110478172C>T" "" "benign" "" "0000274126" "0" "10" "13" "111132556" "111132556" "subst" "0.308755" "01943" "COL4A2_000064" "g.111132556C>T" "" "" "" "COL4A2(NM_001846.3):c.2588-11C>T, COL4A2(NM_001846.4):c.2588-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110480209C>T" "" "benign" "" "0000274127" "0" "10" "13" "111134858" "111134858" "subst" "0.172235" "01943" "COL4A2_000065" "g.111134858T>C" "" "" "" "COL4A2(NM_001846.3):c.2759-5T>C, COL4A2(NM_001846.4):c.2759-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110482511T>C" "" "benign" "" "0000274128" "0" "10" "13" "111137975" "111137975" "subst" "0.0528782" "01943" "COL4A2_000066" "g.111137975G>T" "" "" "" "COL4A2(NM_001846.3):c.3026-27G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110485628G>T" "" "benign" "" "0000274129" "0" "10" "13" "111077229" "111077229" "subst" "0.00533708" "01943" "COL4A2_000008" "g.111077229G>T" "" "" "" "COL4A2(NM_001846.2):c.315+14G>T (p.(=)), COL4A2(NM_001846.3):c.315+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110424882G>T" "" "benign" "" "0000274130" "0" "10" "13" "111077234" "111077234" "subst" "0.00937426" "01943" "COL4A2_000009" "g.111077234T>C" "" "" "" "COL4A2(NM_001846.2):c.315+19T>C (p.(=)), COL4A2(NM_001846.3):c.315+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110424887T>C" "" "benign" "" "0000274132" "0" "10" "13" "111142038" "111142038" "subst" "0.0522601" "01943" "COL4A2_000069" "g.111142038G>A" "" "" "" "COL4A2(NM_001846.3):c.3272-20G>A, COL4A2(NM_001846.4):c.3272-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110489691G>A" "" "benign" "" "0000274133" "0" "30" "13" "111142112" "111142112" "subst" "0.00407324" "01943" "COL4A2_000070" "g.111142112G>A" "" "" "" "COL4A2(NM_001846.2):c.3326G>A (p.(Arg1109Gln)), COL4A2(NM_001846.3):c.3326G>A (p.R1109Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110489765G>A" "" "likely benign" "" "0000274134" "0" "10" "13" "111142158" "111142158" "subst" "0.00270106" "01943" "COL4A2_000072" "g.111142158C>T" "" "" "" "COL4A2(NM_001846.3):c.3346+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110489811C>T" "" "benign" "" "0000274135" "0" "30" "13" "111143629" "111143629" "subst" "0.000481063" "01943" "COL4A2_000074" "g.111143629C>T" "" "" "" "COL4A2(NM_001846.2):c.3396C>T (p.(Phe1132=)), COL4A2(NM_001846.3):c.3396C>T (p.F1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110491282C>T" "" "likely benign" "" "0000274136" "0" "10" "13" "111144412" "111144412" "subst" "0.0948213" "01943" "COL4A2_000076" "g.111144412C>G" "" "" "" "COL4A2(NM_001846.3):c.3455-5C>G, COL4A2(NM_001846.4):c.3455-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110492065C>G" "" "benign" "" "0000274137" "0" "90" "13" "111077346" "111077346" "subst" "0" "01943" "COL4A2_000011" "g.111077346T>C" "" "" "" "COL4A2(NM_001846.3):c.360+2T>C, COL4A2(NM_001846.4):c.360+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110424999T>C" "" "pathogenic" "" "0000274138" "0" "10" "13" "111077404" "111077404" "del" "0" "01943" "COL4A2_000012" "g.111077404del" "" "" "" "COL4A2(NM_001846.3):c.360+60delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110425057del" "" "benign" "" "0000274139" "0" "10" "13" "111145642" "111145642" "subst" "0.00519097" "01943" "COL4A2_000079" "g.111145642G>A" "" "" "" "COL4A2(NM_001846.2):c.3634+13G>A (p.(=)), COL4A2(NM_001846.3):c.3634+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110493295G>A" "" "benign" "" "0000274140" "0" "10" "13" "111145633" "111145633" "subst" "0.0914329" "01943" "COL4A2_000077" "g.111145633C>T" "" "" "" "COL4A2(NM_001846.3):c.3634+4C>T, COL4A2(NM_001846.4):c.3634+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110493286C>T" "" "benign" "" "0000274141" "0" "30" "13" "111147771" "111147771" "subst" "0" "01943" "COL4A2_000080" "g.111147771C>T" "" "" "" "COL4A2(NM_001846.3):c.3717C>T (p.G1239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110495424C>T" "" "likely benign" "" "0000274142" "0" "10" "13" "111154058" "111154058" "subst" "0.986332" "01943" "COL4A2_000082" "g.111154058T>A" "" "" "" "COL4A2(NM_001846.3):c.3804T>A (p.P1268=), COL4A2(NM_001846.4):c.3804T>A (p.P1268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110501711T>A" "" "benign" "" "0000274144" "0" "10" "13" "111154061" "111154061" "subst" "0.986336" "01943" "COL4A2_000083" "g.111154061T>C" "" "" "" "COL4A2(NM_001846.3):c.3807T>C (p.G1269=), COL4A2(NM_001846.4):c.3807T>C (p.G1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110501714T>C" "" "benign" "" "0000274145" "0" "10" "13" "111154159" "111154159" "subst" "0.41707" "01943" "COL4A2_000085" "g.111154159C>T" "" "" "" "COL4A2(NM_001846.3):c.3877+28C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110501812C>T" "" "benign" "" "0000274146" "0" "10" "13" "111154160" "111154160" "subst" "0.567372" "01943" "COL4A2_000086" "g.111154160G>A" "" "" "" "COL4A2(NM_001846.3):c.3877+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110501813G>A" "" "benign" "" "0000274147" "0" "10" "13" "111155711" "111155711" "subst" "0.347526" "01943" "COL4A2_000088" "g.111155711C>T" "" "" "" "COL4A2(NM_001846.3):c.4040-19C>T, COL4A2(NM_001846.4):c.4040-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503364C>T" "" "benign" "" "0000274148" "0" "50" "13" "111155754" "111155754" "subst" "0.000197228" "01943" "COL4A2_000089" "g.111155754T>C" "" "" "" "COL4A2(NM_001846.3):c.4064T>C (p.M1355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503407T>C" "" "VUS" "" "0000274149" "0" "10" "13" "111155779" "111155779" "subst" "0.196601" "01943" "COL4A2_000091" "g.111155779G>A" "" "" "" "COL4A2(NM_001846.3):c.4089G>A (p.A1363=), COL4A2(NM_001846.4):c.4089G>A (p.A1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503432G>A" "" "benign" "" "0000274150" "0" "30" "13" "111156201" "111156201" "subst" "0.000256014" "01943" "COL4A2_000092" "g.111156201C>T" "" "" "" "COL4A2(NM_001846.3):c.4146C>T (p.P1382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503854C>T" "" "likely benign" "" "0000274151" "0" "30" "13" "111156234" "111156234" "subst" "0" "01943" "COL4A2_000093" "g.111156234C>T" "" "" "" "COL4A2(NM_001846.3):c.4179C>T (p.I1393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503887C>T" "" "likely benign" "" "0000274152" "0" "10" "13" "111156250" "111156250" "subst" "0.0300703" "01943" "COL4A2_000094" "g.111156250G>A" "" "" "" "COL4A2(NM_001846.2):c.4195G>A (p.(Val1399Ile)), COL4A2(NM_001846.3):c.4195G>A (p.V1399I), COL4A2(NM_001846.4):c.4195G>A (p.V1399I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503903G>A" "" "benign" "" "0000274153" "0" "10" "13" "111156499" "111156499" "subst" "0.985842" "01943" "COL4A2_000096" "g.111156499C>T" "" "" "" "COL4A2(NM_001846.3):c.4290C>T (p.F1430=), COL4A2(NM_001846.4):c.4290C>T (p.F1430=), COL4A2-AS1(NR_046583.1):n.187-1224G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110504152C>T" "" "benign" "" "0000274154" "0" "30" "13" "110960403" "110960403" "subst" "0" "01943" "COL4A2_000003" "g.110960403C>T" "" "" "" "COL4A2(NM_001846.3):c.45-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110308056C>T" "" "likely benign" "" "0000274155" "0" "30" "13" "111158937" "111158937" "subst" "0.00129045" "01943" "COL4A2_000100" "g.111158937G>A" "" "" "" "COL4A2(NM_001846.2):c.4578G>A (p.(Ala1526=)), COL4A2(NM_001846.3):c.4578G>A (p.A1526=), COL4A2(NM_001846.4):c.4578G>A (p.A1526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110506590G>A" "" "likely benign" "" "0000274156" "0" "30" "13" "111158983" "111158983" "subst" "0" "01943" "COL4A2_000101" "g.111158983C>G" "" "" "" "COL4A2(NM_001846.3):c.4594+30C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110506636C>G" "" "likely benign" "" "0000274157" "0" "10" "13" "111160304" "111160304" "subst" "0.104904" "01943" "COL4A2_000102" "g.111160304G>A" "" "" "" "COL4A2(NM_001846.3):c.4617G>A (p.A1539=), COL4A2(NM_001846.4):c.4617G>A (p.A1539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110507957G>A" "" "benign" "" "0000274158" "0" "30" "13" "111160424" "111160424" "subst" "0.00174225" "01943" "COL4A2_000104" "g.111160424C>T" "" "" "" "COL4A2(NM_001846.2):c.4737C>T (p.(Ala1579=)), COL4A2(NM_001846.3):c.4737C>T (p.A1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110508077C>T" "" "likely benign" "" "0000274159" "0" "50" "13" "111160459" "111160459" "subst" "8.12183E-6" "01943" "COL4A2_000106" "g.111160459C>G" "" "" "" "COL4A2(NM_001846.3):c.4772C>G (p.S1591C), COL4A2(NM_001846.4):c.4772C>G (p.(Ser1591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110508112C>G" "" "VUS" "" "0000274160" "0" "10" "13" "111164266" "111164266" "subst" "0.00105574" "01943" "COL4A2_000110" "g.111164266C>T" "" "" "" "COL4A2(NM_001846.2):c.4882-15C>T (p.(=)), COL4A2(NM_001846.3):c.4882-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511919C>T" "" "benign" "" "0000274161" "0" "10" "13" "111164258" "111164258" "subst" "0.01266" "01943" "COL4A2_000109" "g.111164258G>T" "" "" "" "COL4A2(NM_001846.3):c.4882-23G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511911G>T" "" "benign" "" "0000274162" "0" "30" "13" "111164244" "111164245" "del" "0" "01943" "COL4A2_000108" "g.111164244_111164245del" "" "" "" "COL4A2(NM_001846.3):c.4882-37_4882-36delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511897_110511898del" "" "likely benign" "" "0000274163" "0" "10" "13" "111164274" "111164274" "subst" "0.00107159" "01943" "COL4A2_000111" "g.111164274T>C" "" "" "" "COL4A2(NM_001846.2):c.4882-7T>C (p.(=)), COL4A2(NM_001846.3):c.4882-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511927T>C" "" "benign" "" "0000274164" "0" "30" "13" "111164367" "111164367" "subst" "0.000345734" "01943" "COL4A2_000114" "g.111164367C>T" "" "" "" "COL4A2(NM_001846.3):c.4968C>T (p.I1656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110512020C>T" "" "likely benign" "" "0000274165" "0" "50" "13" "111164384" "111164384" "subst" "0.000195581" "01943" "COL4A2_000115" "g.111164384G>A" "" "" "" "COL4A2(NM_001846.2):c.4985G>A (p.(Arg1662His)), COL4A2(NM_001846.3):c.4985G>A (p.R1662H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110512037G>A" "" "VUS" "" "0000274166" "0" "50" "13" "111082289" "111082289" "subst" "0" "01943" "COL4A2_000014" "g.111082289C>T" "" "" "" "COL4A2(NM_001846.3):c.535C>T (p.R179C), COL4A2(NM_001846.4):c.535C>T (p.R179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110429942C>T" "" "VUS" "" "0000274167" "0" "10" "13" "111082318" "111082318" "subst" "0.00814641" "01943" "COL4A2_000015" "g.111082318G>C" "" "" "" "COL4A2(NM_001846.2):c.549+15G>C (p.(=)), COL4A2(NM_001846.3):c.549+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110429971G>C" "" "benign" "" "0000274168" "0" "10" "13" "111082735" "111082735" "subst" "7.1178E-5" "01943" "COL4A2_000017" "g.111082735T>C" "" "" "" "COL4A2(NM_001846.2):c.550-13T>C (p.(=)), COL4A2(NM_001846.3):c.550-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110430388T>C" "" "benign" "" "0000274169" "0" "50" "13" "111082772" "111082772" "subst" "0.0102649" "01943" "COL4A2_000018" "g.111082772G>T" "" "" "" "COL4A2(NM_001846.2):c.574G>T (p.(Val192Phe)), COL4A2(NM_001846.3):c.574G>T (p.V192F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110430425G>T" "" "VUS" "" "0000274170" "0" "50" "13" "111082784" "111082784" "subst" "0" "01943" "COL4A2_000019" "g.111082784G>C" "" "" "" "COL4A2(NM_001846.3):c.585+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110430437G>C" "" "VUS" "" "0000274171" "0" "10" "13" "111082900" "111082900" "subst" "0.00683085" "01943" "COL4A2_000020" "g.111082900C>T" "" "" "" "COL4A2(NM_001846.2):c.594C>T (p.(Pro198=)), COL4A2(NM_001846.3):c.594C>T (p.P198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110430553C>T" "" "benign" "" "0000274172" "0" "10" "13" "111084656" "111084656" "subst" "0.00304155" "01943" "COL4A2_000021" "g.111084656C>T" "" "" "" "COL4A2(NM_001846.2):c.649-16C>T (p.(=)), COL4A2(NM_001846.3):c.649-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110432309C>T" "" "benign" "" "0000274173" "0" "30" "13" "111088633" "111088633" "subst" "1.21843E-5" "01943" "COL4A2_000022" "g.111088633G>A" "" "" "" "COL4A2(NM_001846.3):c.744G>A (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110436286G>A" "" "likely benign" "" "0000274174" "0" "10" "13" "111091157" "111091157" "subst" "0" "01943" "COL4A2_000027" "g.111091157C>A" "" "" "" "COL4A2(NM_001846.3):c.912+142C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110438810C>A" "" "benign" "" "0000274175" "0" "10" "13" "111091024" "111091024" "subst" "0.0568091" "01943" "COL4A2_000026" "g.111091024C>T" "" "" "" "COL4A2(NM_001846.3):c.912+9C>T, COL4A2(NM_001846.4):c.912+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110438677C>T" "" "benign" "" "0000274176" "0" "30" "13" "111092115" "111092115" "subst" "0.000292707" "01943" "COL4A2_000028" "g.111092115T>C" "" "" "" "COL4A2(NM_001846.3):c.913-21T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110439768T>C" "" "likely benign" "" "0000274177" "0" "50" "13" "111098183" "111098183" "subst" "3.65491E-5" "01943" "COL4A2_000029" "g.111098183G>A" "" "" "" "COL4A2(NM_001846.2):c.965G>A (p.(Arg322Gln)), COL4A2(NM_001846.3):c.965G>A (p.R322Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110445836G>A" "" "VUS" "" "0000274178" "0" "30" "13" "110960486" "110960486" "subst" "0.000155191" "01943" "COL4A2_000004" "g.110960486C>T" "" "" "" "COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110308139C>T" "" "likely benign" "" "0000323513" "0" "50" "13" "111009897" "111009897" "subst" "0" "01804" "COL4A2_000005" "g.111009897C>T" "" "" "" "COL4A2(NM_001846.2):c.178C>T (p.(Arg60Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110357550C>T" "" "VUS" "" "0000323514" "0" "30" "13" "111077234" "111077234" "subst" "0.00937426" "01804" "COL4A2_000009" "g.111077234T>C" "" "" "" "COL4A2(NM_001846.2):c.315+19T>C (p.(=)), COL4A2(NM_001846.3):c.315+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110424887T>C" "" "likely benign" "" "0000323515" "0" "30" "13" "111082772" "111082772" "subst" "0.0102649" "01804" "COL4A2_000018" "g.111082772G>T" "" "" "" "COL4A2(NM_001846.2):c.574G>T (p.(Val192Phe)), COL4A2(NM_001846.3):c.574G>T (p.V192F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110430425G>T" "" "likely benign" "" "0000323516" "0" "30" "13" "111084656" "111084656" "subst" "0.00304155" "01804" "COL4A2_000021" "g.111084656C>T" "" "" "" "COL4A2(NM_001846.2):c.649-16C>T (p.(=)), COL4A2(NM_001846.3):c.649-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110432309C>T" "" "likely benign" "" "0000323517" "0" "30" "13" "111090991" "111090991" "subst" "0.00232286" "01804" "COL4A2_000025" "g.111090991A>G" "" "" "" "COL4A2(NM_001846.2):c.888A>G (p.(Gly296=)), COL4A2(NM_001846.3):c.888A>G (p.G296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110438644A>G" "" "likely benign" "" "0000323518" "0" "50" "13" "111098183" "111098183" "subst" "3.65491E-5" "01804" "COL4A2_000029" "g.111098183G>A" "" "" "" "COL4A2(NM_001846.2):c.965G>A (p.(Arg322Gln)), COL4A2(NM_001846.3):c.965G>A (p.R322Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110445836G>A" "" "VUS" "" "0000323521" "0" "30" "13" "111109725" "111109725" "subst" "0.001795" "01804" "COL4A2_000041" "g.111109725G>A" "" "" "" "COL4A2(NM_001846.2):c.1375G>A (p.(Ala459Thr)), COL4A2(NM_001846.3):c.1375G>A (p.A459T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110457378G>A" "" "likely benign" "" "0000323522" "0" "30" "13" "111111185" "111111185" "subst" "0.00012196" "01804" "COL4A2_000044" "g.111111185A>T" "" "" "" "COL4A2(NM_001846.2):c.1500A>T (p.(Gly500=)), COL4A2(NM_001846.3):c.1500A>T (p.G500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110458838A>T" "" "likely benign" "" "0000323524" "0" "30" "13" "111117923" "111117923" "subst" "0.00186418" "01804" "COL4A2_000055" "g.111117923C>T" "" "" "" "COL4A2(NM_001846.2):c.1948C>T (p.(Pro650Ser)), COL4A2(NM_001846.3):c.1948C>T (p.P650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110465576C>T" "" "likely benign" "" "0000323525" "0" "30" "13" "111118344" "111118344" "subst" "0.00452584" "01804" "COL4A2_000056" "g.111118344C>T" "" "" "" "COL4A2(NM_001846.2):c.1979-6C>T (p.(=)), COL4A2(NM_001846.3):c.1979-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110465997C>T" "" "likely benign" "" "0000323526" "0" "50" "13" "111121644" "111121644" "subst" "3.39539E-5" "01804" "COL4A2_000060" "g.111121644G>C" "" "" "" "COL4A2(NM_001846.2):c.2176G>C (p.(Gly726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110469297G>C" "" "VUS" "" "0000323528" "0" "50" "13" "111141856" "111141856" "subst" "0" "01804" "COL4A2_000068" "g.111141856G>A" "" "" "" "COL4A2(NM_001846.2):c.3271+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110489509G>A" "" "VUS" "" "0000323529" "0" "30" "13" "111143601" "111143601" "subst" "0.00920085" "01804" "COL4A2_000073" "g.111143601A>G" "" "" "" "COL4A2(NM_001846.2):c.3368A>G (p.(Glu1123Gly)), COL4A2(NM_001846.3):c.3368A>G (p.E1123G), COL4A2(NM_001846.4):c.3368A>G (p.E1123G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110491254A>G" "" "likely benign" "" "0000323533" "0" "30" "13" "111145642" "111145642" "subst" "0.00519097" "01804" "COL4A2_000079" "g.111145642G>A" "" "" "" "COL4A2(NM_001846.2):c.3634+13G>A (p.(=)), COL4A2(NM_001846.3):c.3634+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110493295G>A" "" "likely benign" "" "0000323535" "0" "30" "13" "111156250" "111156250" "subst" "0.0300703" "01804" "COL4A2_000094" "g.111156250G>A" "" "" "" "COL4A2(NM_001846.2):c.4195G>A (p.(Val1399Ile)), COL4A2(NM_001846.3):c.4195G>A (p.V1399I), COL4A2(NM_001846.4):c.4195G>A (p.V1399I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503903G>A" "" "likely benign" "" "0000323536" "0" "30" "13" "111156311" "111156311" "subst" "0.000991137" "01804" "COL4A2_000095" "g.111156311T>C" "" "" "" "COL4A2(NM_001846.2):c.4256T>C (p.(Met1419Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110503964T>C" "" "likely benign" "" "0000323541" "0" "30" "13" "111164266" "111164266" "subst" "0.00105574" "01804" "COL4A2_000110" "g.111164266C>T" "" "" "" "COL4A2(NM_001846.2):c.4882-15C>T (p.(=)), COL4A2(NM_001846.3):c.4882-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511919C>T" "" "likely benign" "" "0000323542" "0" "30" "13" "111164274" "111164274" "subst" "0.00107159" "01804" "COL4A2_000111" "g.111164274T>C" "" "" "" "COL4A2(NM_001846.2):c.4882-7T>C (p.(=)), COL4A2(NM_001846.3):c.4882-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511927T>C" "" "likely benign" "" "0000323543" "0" "50" "13" "111164327" "111164327" "subst" "2.45186E-5" "01804" "COL4A2_000112" "g.111164327C>T" "" "" "" "COL4A2(NM_001846.2):c.4928C>T (p.(Pro1643Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511980C>T" "" "VUS" "" "0000323545" "0" "30" "13" "111164328" "111164328" "subst" "0.00190381" "01804" "COL4A2_000113" "g.111164328G>A" "" "" "" "COL4A2(NM_001846.2):c.4929G>A (p.(Pro1643=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110511981G>A" "" "likely benign" "" "0000343284" "0" "50" "13" "111121578" "111121578" "subst" "0" "02327" "COL4A2_000118" "g.111121578C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110469231C>T" "" "VUS" "" "0000345737" "0" "50" "13" "111158824" "111158824" "subst" "1.24863E-5" "02327" "COL4A2_000120" "g.111158824G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110506477G>A" "" "VUS" "" "0000549790" "0" "10" "13" "110959356" "110959356" "subst" "0.435687" "02327" "COL4A1_000052" "g.110959356C>G" "" "" "" "COL4A1(NM_001845.5):c.19G>C (p.V7L), COL4A1(NM_001845.6):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110307009C>G" "" "benign" "" "0000549791" "0" "30" "13" "110959368" "110959368" "subst" "0.000592821" "01943" "COL4A1_000202" "g.110959368G>T" "" "" "" "COL4A1(NM_001303110.1):c.7C>A (p.(Pro3Thr)), COL4A1(NM_001845.5):c.7C>A (p.P3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110307021G>T" "" "likely benign" "" "0000549792" "0" "10" "13" "110959464" "110959464" "subst" "0" "02327" "COL4A1_000053" "g.110959464C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110307117C>A" "" "benign" "" "0000549793" "0" "30" "13" "110960474" "110960474" "subst" "0.000252494" "01943" "COL4A1_000203" "g.110960474A>G" "" "" "" "COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G, COL4A2(NM_001846.4):c.99+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110308127A>G" "" "likely benign" "" "0000549794" "0" "30" "13" "110960474" "110960474" "subst" "0.000252494" "01804" "COL4A1_000203" "g.110960474A>G" "" "" "" "COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G, COL4A2(NM_001846.4):c.99+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110308127A>G" "" "likely benign" "" "0000549795" "0" "50" "13" "111077063" "111077063" "subst" "0.000847525" "01804" "COL4A2_000122" "g.111077063C>A" "" "" "" "COL4A2(NM_001846.2):c.181-18C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110424716C>A" "" "VUS" "" "0000549796" "0" "50" "13" "111077142" "111077142" "subst" "0" "01804" "COL4A2_000123" "g.111077142C>G" "" "" "" "COL4A2(NM_001846.2):c.242C>G (p.(Pro81Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110424795C>G" "" "VUS" "" "0000549797" "0" "30" "13" "111077283" "111077283" "dup" "0" "01943" "COL4A2_000124" "g.111077283dup" "" "" "" "COL4A2(NM_001846.2):c.316-17dup (p.(=)), COL4A2(NM_001846.3):c.316-17dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110424936dup" "" "likely benign" "" "0000549798" "0" "30" "13" "111077283" "111077283" "dup" "0" "01804" "COL4A2_000124" "g.111077283dup" "" "" "" "COL4A2(NM_001846.2):c.316-17dup (p.(=)), COL4A2(NM_001846.3):c.316-17dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110424936dup" "" "likely benign" "" "0000549799" "0" "30" "13" "111082291" "111082291" "subst" "6.44169E-5" "01804" "COL4A2_000125" "g.111082291C>T" "" "" "" "COL4A2(NM_001846.2):c.537C>T (p.(Arg179=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110429944C>T" "" "likely benign" "" "0000549800" "0" "30" "13" "111082307" "111082307" "subst" "0" "01804" "COL4A2_000126" "g.111082307C>T" "" "" "" "COL4A2(NM_001846.2):c.549+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110429960C>T" "" "likely benign" "" "0000549801" "0" "30" "13" "111082914" "111082914" "subst" "0.000243663" "01804" "COL4A2_000127" "g.111082914A>T" "" "" "" "COL4A2(NM_001846.2):c.608A>T (p.(His203Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110430567A>T" "" "likely benign" "" "0000549802" "0" "30" "13" "111090399" "111090399" "subst" "2.44718E-5" "01804" "COL4A2_000128" "g.111090399G>A" "" "" "" "COL4A2(NM_001846.2):c.861+15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110438052G>A" "" "likely benign" "" "0000549803" "0" "50" "13" "111090965" "111090965" "subst" "4.06101E-6" "02329" "COL4A2_000129" "g.111090965G>A" "" "" "" "COL4A2(NM_001846.2):c.862G>A (p.(Gly288Ser)), COL4A2(NM_001846.4):c.862G>A (p.G288S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110438618G>A" "" "VUS" "" "0000549804" "0" "30" "13" "111098229" "111098229" "subst" "0.00175034" "01804" "COL4A2_000031" "g.111098229G>A" "" "" "" "COL4A2(NM_001846.2):c.1011G>A (p.(Lys337=)), COL4A2(NM_001846.3):c.1011G>A (p.K337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110445882G>A" "" "likely benign" "" "0000549806" "0" "10" "13" "111102790" "111102790" "subst" "0.00122518" "01943" "COL4A2_000131" "g.111102790C>G" "" "" "" "COL4A2(NM_001846.3):c.1328C>G (p.P443R), COL4A2(NM_001846.4):c.1328C>G (p.(Pro443Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110450443C>G" "" "benign" "" "0000549807" "0" "10" "13" "111109442" "111109442" "del" "0" "01943" "COL4A2_000132" "g.111109442del" "" "" "" "COL4A2(NM_001846.3):c.1340-248delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110457095del" "" "benign" "" "0000549808" "0" "50" "13" "111111198" "111111198" "subst" "5.7019E-5" "01943" "COL4A2_000133" "g.111111198G>A" "" "" "" "COL4A2(NM_001846.3):c.1513G>A (p.A505T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110458851G>A" "" "VUS" "" "0000549809" "0" "30" "13" "111111230" "111111230" "subst" "9.51845E-5" "01943" "COL4A2_000134" "g.111111230G>C" "" "" "" "COL4A2(NM_001846.3):c.1545G>C (p.G515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110458883G>C" "" "likely benign" "" "0000549810" "0" "30" "13" "111114675" "111114675" "subst" "2.84428E-5" "01804" "COL4A2_000052" "g.111114675G>A" "" "" "" "COL4A2(NM_001846.2):c.1720G>A (p.(Asp574Asn)), COL4A2(NM_001846.3):c.1720G>A (p.D574N), COL4A2(NM_001846.4):c.1720G>A (p.D574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110462328G>A" "" "likely benign" "" "0000549811" "0" "50" "13" "111117920" "111117920" "subst" "0.000189299" "01804" "COL4A2_000135" "g.111117920C>T" "" "" "" "COL4A2(NM_001846.2):c.1945C>T (p.(Pro649Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110465573C>T" "" "VUS" "" "0000549813" "0" "30" "13" "111119384" "111119384" "subst" "0.000816628" "01943" "COL4A2_000136" "g.111119384C>T" "" "" "" "COL4A2(NM_001846.3):c.2039-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110467037C>T" "" "likely benign" "" "0000549814" "0" "50" "13" "111121653" "111121653" "subst" "0.000176523" "01804" "COL4A2_000137" "g.111121653G>A" "" "" "" "COL4A2(NM_001846.2):c.2185G>A (p.(Gly729Arg)), COL4A2(NM_001846.4):c.2185G>A (p.G729R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110469306G>A" "" "VUS" "" "0000549815" "0" "50" "13" "111130361" "111130361" "subst" "1.36302E-5" "01804" "COL4A2_000062" "g.111130361A>T" "" "" "" "COL4A2(NM_001846.2):c.2437A>T (p.(Met813Leu)), COL4A2(NM_001846.3):c.2437A>T (p.M813L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110478014A>T" "" "VUS" "" "0000549816" "0" "30" "13" "111130460" "111130460" "subst" "0" "01804" "COL4A2_000138" "g.111130460G>C" "" "" "" "COL4A2(NM_001846.2):c.2536G>C (p.(Ala846Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110478113G>C" "" "likely benign" "" "0000549817" "0" "50" "13" "111132648" "111132648" "subst" "0" "01804" "COL4A2_000139" "g.111132648G>A" "" "" "" "COL4A2(NM_001846.2):c.2669G>A (p.(Gly890Glu)), COL4A2(NM_001846.4):c.2669G>A (p.G890E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110480301G>A" "" "VUS" "" "0000549818" "0" "30" "13" "111141818" "111141818" "subst" "0.000767513" "01943" "COL4A2_000140" "g.111141818A>C" "" "" "" "COL4A2(NM_001846.2):c.3234A>C (p.(Ala1078=)), COL4A2(NM_001846.3):c.3234A>C (p.A1078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110489471A>C" "" "likely benign" "" "0000549819" "0" "30" "13" "111142112" "111142112" "subst" "0.00407324" "01804" "COL4A2_000070" "g.111142112G>A" "" "" "" "COL4A2(NM_001846.2):c.3326G>A (p.(Arg1109Gln)), COL4A2(NM_001846.3):c.3326G>A (p.R1109Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110489765G>A" "" "likely benign" "" "0000549820" "0" "30" "13" "111142139" "111142139" "subst" "0.0020436" "01804" "COL4A2_000071" "g.111142139A>G" "" "" "" "COL4A2(NM_001846.2):c.3346+7A>G (p.(=)), COL4A2(NM_001846.3):c.3346+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110489792A>G" "" "likely benign" "" "0000549821" "0" "70" "13" "111143589" "111143589" "subst" "0" "01804" "COL4A2_000141" "g.111143589G>T" "" "" "" "COL4A2(NM_001846.2):c.3356G>T (p.(Gly1119Val)), COL4A2(NM_001846.3):c.3356G>T (p.G1119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110491242G>T" "" "likely pathogenic" "" "0000549822" "0" "30" "13" "111143629" "111143629" "subst" "0.000481063" "01804" "COL4A2_000074" "g.111143629C>T" "" "" "" "COL4A2(NM_001846.2):c.3396C>T (p.(Phe1132=)), COL4A2(NM_001846.3):c.3396C>T (p.F1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110491282C>T" "" "likely benign" "" "0000549823" "0" "50" "13" "111143645" "111143645" "subst" "5.07905E-5" "01804" "COL4A2_000142" "g.111143645G>A" "" "" "" "COL4A2(NM_001846.2):c.3412G>A (p.(Val1138Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110491298G>A" "" "VUS" "" "0000549825" "0" "30" "13" "111145554" "111145554" "subst" "5.2815E-5" "01804" "COL4A2_000143" "g.111145554G>C" "" "" "" "COL4A2(NM_001846.2):c.3563-4G>C (p.?), COL4A2(NM_001846.4):c.3563-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110493207G>C" "" "likely benign" "" "0000549826" "0" "50" "13" "111154040" "111154040" "subst" "0" "01804" "COL4A2_000144" "g.111154040A>G" "" "" "" "COL4A2(NM_001846.2):c.3786A>G (p.(Pro1262=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110501693A>G" "" "VUS" "" "0000549827" "0" "30" "13" "111154146" "111154146" "subst" "0.000443579" "01804" "COL4A2_000145" "g.111154146T>C" "" "" "" "COL4A2(NM_001846.2):c.3877+15T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110501799T>C" "" "likely benign" "" "0000549828" "0" "10" "13" "111155773" "111155773" "subst" "0.994337" "01943" "COL4A2_000090" "g.111155773T>C" "" "" "" "COL4A2(NM_001846.3):c.4083T>C (p.T1361=), COL4A2(NM_001846.4):c.4083T>C (p.T1361=), COL4A2-AS1(NR_046583.1):n.187-498A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110503426T>C" "" "benign" "" "0000549829" "0" "70" "13" "111156202" "111156202" "subst" "0" "02329" "COL4A2_000146" "g.111156202G>A" "" "" "" "COL4A2(NM_001846.4):c.4147G>A (p.G1383R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110503855G>A" "" "likely pathogenic" "" "0000549830" "0" "70" "13" "111156220" "111156220" "subst" "0" "02327" "COL4A2_000147" "g.111156220G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110503873G>A" "" "likely pathogenic" "" "0000549831" "0" "50" "13" "111156331" "111156331" "subst" "0" "01804" "COL4A2_000148" "g.111156331G>A" "" "" "" "COL4A2(NM_001846.2):c.4276G>A (p.(Gly1426Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110503984G>A" "" "VUS" "" "0000549832" "0" "30" "13" "111156609" "111156609" "subst" "0.000468485" "01804" "COL4A2_000149" "g.111156609A>C" "" "" "" "COL4A2(NM_001846.2):c.4400A>C (p.(Glu1467Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110504262A>C" "" "likely benign" "" "0000549833" "0" "30" "13" "111160403" "111160403" "subst" "0.000280224" "01943" "COL4A2_000150" "g.111160403G>A" "" "" "" "COL4A2(NM_001846.2):c.4716G>A (p.(Pro1572=)), COL4A2(NM_001846.3):c.4716G>A (p.P1572=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110508056G>A" "" "likely benign" "" "0000549834" "0" "50" "13" "111160498" "111160498" "subst" "0" "02325" "COL4A2_000151" "g.111160498G>A" "" "" "" "COL4A2(NM_001846.4):c.4811G>A (p.S1604N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110508151G>A" "" "VUS" "" "0000549835" "0" "30" "13" "111164321" "111164321" "subst" "0" "01804" "COL4A2_000152" "g.111164321T>C" "" "" "" "COL4A2(NM_001846.2):c.4922T>C (p.(Val1641Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110511974T>C" "" "likely benign" "" "0000549836" "0" "50" "13" "111164386" "111164386" "subst" "0.000513485" "01943" "COL4A2_000153" "g.111164386G>A" "" "" "" "COL4A2(NM_001846.2):c.4987G>A (p.(Gly1663Ser)), COL4A2(NM_001846.3):c.4987G>A (p.G1663S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110512039G>A" "" "VUS" "" "0000549837" "0" "50" "13" "111164465" "111164465" "subst" "1.62718E-5" "01943" "COL4A2_000154" "g.111164465C>T" "" "" "" "COL4A2(NM_001846.3):c.5066C>T (p.S1689F), COL4A2(NM_001846.4):c.5066C>T (p.S1689F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110512118C>T" "" "VUS" "" "0000578295" "0" "50" "13" "111135011" "111135011" "subst" "4.06207E-5" "01164" "COL4A2_000155" "g.111135011G>C" "" "" "" "" "Presented with stepwise introduction of severe neck pain.The patient describes symptoms of vertigo, dizziness and problems standing and walking. Lumbar puncture wlth normal findings, MR findings as in CADASIL: extensive white matter changes, especially frontally. No known heredity." "Germline" "" "rs377140964" "0" "" "" "g.110482664G>C" "" "VUS" "ACMG" "0000604246" "0" "50" "13" "111121668" "111121668" "subst" "8.16718E-5" "01164" "COL4A2_000061" "g.111121668C>T" "" "" "" "" "" "Germline" "" "rs761169216" "0" "" "" "g.110469321C>T" "" "VUS" "ACMG" "0000604247" "0" "50" "13" "111160371" "111160371" "subst" "5.68588E-5" "01164" "COL4A2_000156" "g.111160371G>A" "" "" "" "" "found in another patient with cerebral hemorrhage (MGZ#105297)" "Germline" "" "rs771634327" "0" "" "" "g.110508024G>A" "" "VUS" "ACMG" "0000614490" "0" "30" "13" "111080851" "111080851" "subst" "6.88162E-5" "01804" "COL4A2_000157" "g.111080851G>T" "" "" "" "COL4A2(NM_001846.2):c.398G>T (p.(Gly133Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110428504G>T" "" "likely benign" "" "0000614491" "0" "30" "13" "111117870" "111117870" "subst" "4.10024E-6" "01804" "COL4A2_000159" "g.111117870G>C" "" "" "" "COL4A2(NM_001846.2):c.1895G>C (p.(Arg632Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110465523G>C" "" "likely benign" "" "0000614492" "0" "30" "13" "111118382" "111118382" "subst" "0.000515841" "01804" "COL4A2_000160" "g.111118382G>A" "" "" "" "COL4A2(NM_001846.2):c.2011G>A (p.(Gly671Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110466035G>A" "" "likely benign" "" "0000614493" "0" "50" "13" "111119435" "111119435" "subst" "0" "02327" "COL4A2_000161" "g.111119435G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110467088G>A" "" "VUS" "" "0000614494" "0" "30" "13" "111142063" "111142063" "subst" "2.43686E-5" "01943" "COL4A2_000162" "g.111142063A>G" "" "" "" "COL4A2(NM_001846.3):c.3277A>G (p.I1093V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110489716A>G" "" "likely benign" "" "0000614495" "0" "30" "13" "111142137" "111142137" "subst" "6.75522E-5" "02325" "COL4A2_000163" "g.111142137G>A" "" "" "" "COL4A2(NM_001846.4):c.3346+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110489790G>A" "" "likely benign" "" "0000614496" "0" "30" "13" "111145554" "111145554" "subst" "5.2815E-5" "02325" "COL4A2_000143" "g.111145554G>C" "" "" "" "COL4A2(NM_001846.2):c.3563-4G>C (p.?), COL4A2(NM_001846.4):c.3563-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110493207G>C" "" "likely benign" "" "0000614497" "0" "70" "13" "111156202" "111156202" "subst" "0" "02327" "COL4A2_000146" "g.111156202G>A" "" "" "" "COL4A2(NM_001846.4):c.4147G>A (p.G1383R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110503855G>A" "" "likely pathogenic" "" "0000614498" "0" "30" "13" "111156264" "111156264" "subst" "0" "01943" "COL4A2_000164" "g.111156264A>G" "" "" "" "COL4A2(NM_001846.3):c.4209A>G (p.T1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110503917A>G" "" "likely benign" "" "0000614499" "0" "50" "13" "111164467" "111164467" "subst" "0.000508639" "02325" "COL4A2_000165" "g.111164467G>A" "" "" "" "COL4A2(NM_001846.4):c.5068G>A (p.(Ala1690Thr), p.A1690T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110512120G>A" "" "VUS" "" "0000623022" "0" "30" "13" "111099153" "111099153" "subst" "8.12579E-5" "01943" "COL4A2_000158" "g.111099153C>T" "" "" "" "COL4A2(NM_001846.3):c.1020C>T (p.A340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110446806C>T" "" "likely benign" "" "0000648695" "1" "10" "13" "111121570" "111121570" "subst" "0.0188532" "03575" "COL4A2_000058" "g.111121570A>G" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs78829338}" "Germline" "" "rs78829338" "0" "" "" "g.110469223A>G" "" "benign" "" "0000648696" "1" "30" "13" "111143601" "111143601" "subst" "0.00920085" "03575" "COL4A2_000073" "g.111143601A>G" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs117412802}" "Germline" "" "rs117412802" "0" "" "" "g.110491254A>G" "" "likely benign" "" "0000657245" "0" "50" "13" "111082289" "111082289" "subst" "0" "02325" "COL4A2_000014" "g.111082289C>T" "" "" "" "COL4A2(NM_001846.3):c.535C>T (p.R179C), COL4A2(NM_001846.4):c.535C>T (p.R179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110429942C>T" "" "VUS" "" "0000657246" "0" "50" "13" "111102041" "111102041" "subst" "1.35393E-5" "02325" "COL4A2_000166" "g.111102041C>T" "" "" "" "COL4A2(NM_001846.4):c.1094C>T (p.P365L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110449694C>T" "" "VUS" "" "0000660165" "0" "70" "13" "111138047" "111138047" "subst" "0" "01741" "COL4A2_000167" "g.111138047G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "g.110485700G>A" "" "likely pathogenic" "" "0000663263" "0" "50" "13" "111156281" "111156281" "subst" "0" "01164" "COL4A2_000168" "g.111156281G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110503934G>A" "" "VUS" "" "0000679719" "0" "30" "13" "111080898" "111080898" "subst" "9.70676E-5" "01943" "COL4A2_000169" "g.111080898C>G" "" "" "" "COL4A2(NM_001846.3):c.445C>G (p.P149A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679720" "0" "30" "13" "111111185" "111111185" "subst" "0.00012196" "01943" "COL4A2_000044" "g.111111185A>T" "" "" "" "COL4A2(NM_001846.2):c.1500A>T (p.(Gly500=)), COL4A2(NM_001846.3):c.1500A>T (p.G500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679721" "0" "30" "13" "111118418" "111118418" "subst" "4.06507E-5" "01943" "COL4A2_000170" "g.111118418G>T" "" "" "" "COL4A2(NM_001846.3):c.2038+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691473" "0" "30" "13" "111102725" "111102725" "subst" "8.13524E-6" "01943" "COL4A2_000171" "g.111102725C>T" "" "" "" "COL4A2(NM_001846.3):c.1263C>T (p.Y421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691474" "0" "30" "13" "111114675" "111114675" "subst" "2.84428E-5" "01943" "COL4A2_000052" "g.111114675G>A" "" "" "" "COL4A2(NM_001846.2):c.1720G>A (p.(Asp574Asn)), COL4A2(NM_001846.3):c.1720G>A (p.D574N), COL4A2(NM_001846.4):c.1720G>A (p.D574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691475" "0" "50" "13" "111164465" "111164465" "subst" "1.62718E-5" "02325" "COL4A2_000154" "g.111164465C>T" "" "" "" "COL4A2(NM_001846.3):c.5066C>T (p.S1689F), COL4A2(NM_001846.4):c.5066C>T (p.S1689F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724354" "0" "30" "13" "111125346" "111125346" "subst" "6.04111E-5" "01943" "COL4A2_000172" "g.111125346C>T" "" "" "" "COL4A2(NM_001846.3):c.2274C>T (p.I758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724355" "0" "50" "13" "111125467" "111125467" "subst" "3.05239E-5" "02325" "COL4A2_000173" "g.111125467C>T" "" "" "" "COL4A2(NM_001846.4):c.2395C>T (p.P799S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724356" "0" "30" "13" "111137245" "111137245" "subst" "8.27164E-6" "01943" "COL4A2_000174" "g.111137245C>T" "" "" "" "COL4A2(NM_001846.3):c.2903-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724357" "0" "50" "13" "111160444" "111160444" "subst" "0" "02329" "COL4A2_000105" "g.111160444A>G" "" "" "" "COL4A2(NM_001846.4):c.4757A>G (p.Y1586C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765662" "0" "70" "13" "111125444" "111125444" "subst" "0" "01164" "COL4A2_000175" "g.111125444G>A" "" "" "" "" "ACMG: PM1_STR, PM2_SUP, PP3; (Gly791Glu disrupts the Gly-X-Y motiv in the collagenous domain); patient has also a class 5 variant in PRNP" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000786818" "0" "90" "13" "111138181" "111138181" "del" "0" "00006" "COL4A2_000176" "g.111138181del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.3205delC" "" "Germline" "" "" "0" "" "" "g.110485834del" "" "pathogenic" "" "0000806015" "0" "50" "13" "111102678" "111102678" "subst" "0" "01943" "COL4A2_000177" "g.111102678A>G" "" "" "" "COL4A2(NM_001846.3):c.1216A>G (p.M406V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806016" "0" "30" "13" "111121615" "111121615" "subst" "0" "01804" "COL4A2_000178" "g.111121615C>G" "" "" "" "COL4A2(NM_001846.2):c.2147C>G (p.(Pro716Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806017" "0" "30" "13" "111130456" "111130456" "subst" "0" "01943" "COL4A2_000179" "g.111130456A>G" "" "" "" "COL4A2(NM_001846.3):c.2532A>G (p.P844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806018" "0" "30" "13" "111137367" "111137367" "subst" "3.8224E-5" "01943" "COL4A2_000180" "g.111137367C>T" "" "" "" "COL4A2(NM_001846.3):c.3018C>T (p.G1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806019" "0" "30" "13" "111138153" "111138153" "subst" "4.09601E-6" "01943" "COL4A2_000181" "g.111138153T>C" "" "" "" "COL4A2(NM_001846.3):c.3177T>C (p.I1059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863198" "0" "50" "13" "110960486" "110960486" "subst" "0.000155191" "01804" "COL4A2_000004" "g.110960486C>T" "" "" "" "COL4A2(NM_001846.2):c.99+16C>T (p.(=)), COL4A2(NM_001846.3):c.99+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863199" "0" "10" "13" "111077229" "111077229" "subst" "0.00533708" "01804" "COL4A2_000008" "g.111077229G>T" "" "" "" "COL4A2(NM_001846.2):c.315+14G>T (p.(=)), COL4A2(NM_001846.3):c.315+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863200" "0" "70" "13" "111077346" "111077346" "subst" "0" "02325" "COL4A2_000011" "g.111077346T>C" "" "" "" "COL4A2(NM_001846.3):c.360+2T>C, COL4A2(NM_001846.4):c.360+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863201" "0" "10" "13" "111082318" "111082318" "subst" "0.00814641" "01804" "COL4A2_000015" "g.111082318G>C" "" "" "" "COL4A2(NM_001846.2):c.549+15G>C (p.(=)), COL4A2(NM_001846.3):c.549+15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863202" "0" "30" "13" "111082735" "111082735" "subst" "7.1178E-5" "01804" "COL4A2_000017" "g.111082735T>C" "" "" "" "COL4A2(NM_001846.2):c.550-13T>C (p.(=)), COL4A2(NM_001846.3):c.550-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863203" "0" "50" "13" "111082783" "111082783" "subst" "0" "01804" "COL4A2_000182" "g.111082783G>C" "" "" "" "COL4A2(NM_001846.2):c.585G>C (p.(Gln195His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863204" "0" "10" "13" "111082900" "111082900" "subst" "0.00683085" "01804" "COL4A2_000020" "g.111082900C>T" "" "" "" "COL4A2(NM_001846.2):c.594C>T (p.(Pro198=)), COL4A2(NM_001846.3):c.594C>T (p.P198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863205" "0" "70" "13" "111082901" "111082901" "subst" "1.62447E-5" "01804" "COL4A2_000183" "g.111082901G>A" "" "" "" "COL4A2(NM_001846.2):c.595G>A (p.(Gly199Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863206" "0" "30" "13" "111088621" "111088621" "subst" "0.0019454" "01804" "COL4A2_000184" "g.111088621C>T" "" "" "" "COL4A2(NM_001846.2):c.732C>T (p.(Asp244=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863207" "0" "30" "13" "111092194" "111092194" "subst" "2.43974E-5" "01804" "COL4A2_000185" "g.111092194A>G" "" "" "" "COL4A2(NM_001846.2):c.957+14A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863208" "0" "10" "13" "111102770" "111102770" "subst" "0.00211996" "01804" "COL4A2_000186" "g.111102770C>T" "" "" "" "COL4A2(NM_001846.2):c.1308C>T (p.(Pro436=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863209" "0" "30" "13" "111109670" "111109670" "subst" "0.0101078" "01804" "COL4A2_000040" "g.111109670A>C" "" "" "" "COL4A2(NM_001846.2):c.1340-20A>C (p.(=)), COL4A2(NM_001846.3):c.1340-20A>C, COL4A2(NM_001846.4):c.1340-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863210" "0" "30" "13" "111114610" "111114610" "subst" "2.84331E-5" "01804" "COL4A2_000187" "g.111114610C>T" "" "" "" "COL4A2(NM_001846.2):c.1670-15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863211" "0" "50" "13" "111114732" "111114732" "subst" "0" "01943" "COL4A2_000188" "g.111114732G>A" "" "" "" "COL4A2(NM_001846.3):c.1776+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863212" "0" "30" "13" "111130477" "111130477" "subst" "2.55363E-5" "01943" "COL4A2_000189" "g.111130477G>T" "" "" "" "COL4A2(NM_001846.3):c.2553G>T (p.G851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863213" "0" "50" "13" "111141805" "111141805" "subst" "0" "01804" "COL4A2_000190" "g.111141805C>G" "" "" "" "COL4A2(NM_001846.2):c.3221C>G (p.(Ala1074Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863214" "0" "50" "13" "111141808" "111141808" "subst" "0" "01804" "COL4A2_000191" "g.111141808C>T" "" "" "" "COL4A2(NM_001846.2):c.3224C>T (p.(Pro1075Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863215" "0" "70" "13" "111143589" "111143589" "subst" "0" "01943" "COL4A2_000141" "g.111143589G>T" "" "" "" "COL4A2(NM_001846.2):c.3356G>T (p.(Gly1119Val)), COL4A2(NM_001846.3):c.3356G>T (p.G1119V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863216" "0" "30" "13" "111143696" "111143696" "subst" "0" "01943" "COL4A2_000192" "g.111143696T>C" "" "" "" "COL4A2(NM_001846.3):c.3454+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863217" "0" "50" "13" "111145584" "111145584" "subst" "1.62479E-5" "02325" "COL4A2_000193" "g.111145584G>A" "" "" "" "COL4A2(NM_001846.4):c.3589G>A (p.G1197S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863218" "0" "30" "13" "111156196" "111156196" "subst" "0.000130121" "01804" "COL4A2_000194" "g.111156196G>A" "" "" "" "COL4A2(NM_001846.2):c.4141G>A (p.(Ala1381Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863219" "0" "70" "13" "111156283" "111156283" "subst" "0" "01804" "COL4A2_000195" "g.111156283C>T" "" "" "" "COL4A2(NM_001846.2):c.4228C>T (p.(Arg1410Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863220" "0" "30" "13" "111156310" "111156310" "subst" "0.000635446" "01804" "COL4A2_000196" "g.111156310A>G" "" "" "" "COL4A2(NM_001846.2):c.4255A>G (p.(Met1419Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863221" "0" "50" "13" "111164384" "111164384" "subst" "0.000195581" "01804" "COL4A2_000115" "g.111164384G>A" "" "" "" "COL4A2(NM_001846.2):c.4985G>A (p.(Arg1662His)), COL4A2(NM_001846.3):c.4985G>A (p.R1662H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869085" "21" "70" "13" "111132567" "111132567" "subst" "0" "00006" "COL4A2_000197" "g.111132567G>A" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PM1, PM2, PP3, PP4, BP1" "Germline" "" "" "0" "" "" "g.110480220G>A" "" "likely pathogenic (recessive)" "" "0000890880" "0" "30" "13" "110960474" "110960474" "subst" "0.000252494" "02325" "COL4A1_000203" "g.110960474A>G" "" "" "" "COL4A2(NM_001846.2):c.99+4A>G (p.?), COL4A2(NM_001846.3):c.99+4A>G, COL4A2(NM_001846.4):c.99+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890881" "0" "30" "13" "111102635" "111102635" "subst" "0.000220424" "01804" "COL4A2_000198" "g.111102635A>C" "" "" "" "COL4A2(NM_001846.2):c.1190-17A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890882" "0" "30" "13" "111102685" "111102685" "subst" "4.06478E-5" "02325" "COL4A2_000039" "g.111102685C>G" "" "" "" "COL4A2(NM_001846.4):c.1223C>G (p.P408R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890883" "0" "70" "13" "111119417" "111119417" "subst" "0" "02327" "COL4A2_000199" "g.111119417G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890884" "0" "50" "13" "111121653" "111121653" "subst" "0.000176523" "02325" "COL4A2_000137" "g.111121653G>A" "" "" "" "COL4A2(NM_001846.2):c.2185G>A (p.(Gly729Arg)), COL4A2(NM_001846.4):c.2185G>A (p.G729R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890885" "0" "30" "13" "111138200" "111138200" "subst" "0" "01804" "COL4A2_000200" "g.111138200T>C" "" "" "" "COL4A2(NM_001846.2):c.3207+17T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890886" "0" "30" "13" "111141818" "111141818" "subst" "0.000767513" "01804" "COL4A2_000140" "g.111141818A>C" "" "" "" "COL4A2(NM_001846.2):c.3234A>C (p.(Ala1078=)), COL4A2(NM_001846.3):c.3234A>C (p.A1078=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890887" "0" "30" "13" "111160424" "111160424" "subst" "0.00174225" "01804" "COL4A2_000104" "g.111160424C>T" "" "" "" "COL4A2(NM_001846.2):c.4737C>T (p.(Ala1579=)), COL4A2(NM_001846.3):c.4737C>T (p.A1579=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890888" "0" "50" "13" "111164503" "111164503" "subst" "4.07657E-6" "02325" "COL4A2_000201" "g.111164503A>G" "" "" "" "COL4A2(NM_001846.4):c.5104A>G (p.I1702V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908967" "0" "90" "13" "111138064" "111138064" "subst" "2.45692E-5" "03779" "COL4A2_000202" "g.111138064G>A" "" "" "" "" "" "Unknown" "" "rs747373721" "0" "" "" "" "" "pathogenic" "" "0000914000" "0" "10" "13" "110959356" "110959356" "subst" "0.435687" "02329" "COL4A1_000052" "g.110959356C>G" "" "" "" "COL4A1(NM_001845.5):c.19G>C (p.V7L), COL4A1(NM_001845.6):c.19G>C (p.V7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914001" "0" "10" "13" "111077197" "111077197" "subst" "0.964345" "02329" "COL4A2_000007" "g.111077197G>A" "" "" "" "COL4A2(NM_001846.4):c.297G>A (p.T99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914002" "0" "10" "13" "111098226" "111098226" "subst" "0.510622" "02329" "COL4A2_000030" "g.111098226C>T" "" "" "" "COL4A2(NM_001846.3):c.1008C>T (p.P336=), COL4A2(NM_001846.4):c.1008C>T (p.P336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914003" "0" "10" "13" "111102042" "111102042" "subst" "0.308434" "02329" "COL4A2_000035" "g.111102042G>A" "" "" "" "COL4A2(NM_001846.3):c.1095G>A (p.P365=), COL4A2(NM_001846.4):c.1095G>A (p.P365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914004" "0" "10" "13" "111102126" "111102126" "subst" "0.330332" "02329" "COL4A2_000038" "g.111102126C>T" "" "" "" "COL4A2(NM_001846.3):c.1179C>T (p.I393=), COL4A2(NM_001846.4):c.1179C>T (p.I393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914005" "0" "10" "13" "111111173" "111111173" "subst" "0.520798" "02329" "COL4A2_000043" "g.111111173G>A" "" "" "" "COL4A2(NM_001846.3):c.1488G>A (p.P496=), COL4A2(NM_001846.4):c.1488G>A (p.P496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914006" "0" "10" "13" "111111235" "111111235" "subst" "0.523827" "02329" "COL4A2_000045" "g.111111235G>A" "" "" "" "COL4A2(NM_001846.3):c.1550G>A (p.R517K), COL4A2(NM_001846.4):c.1550G>A (p.R517K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914007" "0" "10" "13" "111114751" "111114751" "subst" "0.23065" "02329" "COL4A2_000053" "g.111114751G>A" "" "" "" "COL4A2(NM_001846.3):c.1776+20G>A, COL4A2(NM_001846.4):c.1776+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914008" "0" "10" "13" "111117745" "111117745" "subst" "0.529956" "02329" "COL4A2_000054" "g.111117745C>T" "" "" "" "COL4A2(NM_001846.3):c.1777-7C>T, COL4A2(NM_001846.4):c.1777-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914009" "0" "50" "13" "111117890" "111117890" "subst" "3.28275E-5" "02327" "COL4A2_000203" "g.111117890G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914010" "0" "10" "13" "111119396" "111119396" "subst" "0.108028" "02329" "COL4A2_000057" "g.111119396G>C" "" "" "" "COL4A2(NM_001846.3):c.2048G>C (p.G683A), COL4A2(NM_001846.4):c.2048G>C (p.G683A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914011" "0" "10" "13" "111121620" "111121620" "subst" "0.175723" "02329" "COL4A2_000059" "g.111121620C>T" "" "" "" "COL4A2(NM_001846.3):c.2152C>T (p.P718S), COL4A2(NM_001846.4):c.2152C>T (p.P718S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914012" "0" "10" "13" "111130519" "111130519" "subst" "0.374521" "02329" "COL4A2_000063" "g.111130519C>T" "" "" "" "COL4A2(NM_001846.3):c.2587+8C>T, COL4A2(NM_001846.4):c.2587+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914013" "0" "10" "13" "111132556" "111132556" "subst" "0.308755" "02329" "COL4A2_000064" "g.111132556C>T" "" "" "" "COL4A2(NM_001846.3):c.2588-11C>T, COL4A2(NM_001846.4):c.2588-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914014" "0" "10" "13" "111134858" "111134858" "subst" "0.172235" "02329" "COL4A2_000065" "g.111134858T>C" "" "" "" "COL4A2(NM_001846.3):c.2759-5T>C, COL4A2(NM_001846.4):c.2759-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914015" "0" "10" "13" "111137240" "111137240" "subst" "0.158381" "02329" "COL4A2_000121" "g.111137240A>G" "" "" "" "COL4A2(NM_001846.3):c.2903-12A>G, COL4A2(NM_001846.4):c.2903-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914016" "0" "50" "13" "111141856" "111141856" "subst" "0" "02327" "COL4A2_000068" "g.111141856G>A" "" "" "" "COL4A2(NM_001846.2):c.3271+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914017" "0" "10" "13" "111142038" "111142038" "subst" "0.0522601" "02329" "COL4A2_000069" "g.111142038G>A" "" "" "" "COL4A2(NM_001846.3):c.3272-20G>A, COL4A2(NM_001846.4):c.3272-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914018" "0" "30" "13" "111143681" "111143681" "subst" "0.0018049" "01804" "COL4A2_000204" "g.111143681C>A" "" "" "" "COL4A2(NM_001846.2):c.3448C>A (p.(Gln1150Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914019" "0" "10" "13" "111154058" "111154058" "subst" "0.986332" "02329" "COL4A2_000082" "g.111154058T>A" "" "" "" "COL4A2(NM_001846.3):c.3804T>A (p.P1268=), COL4A2(NM_001846.4):c.3804T>A (p.P1268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914020" "0" "10" "13" "111154061" "111154061" "subst" "0.986336" "02329" "COL4A2_000083" "g.111154061T>C" "" "" "" "COL4A2(NM_001846.3):c.3807T>C (p.G1269=), COL4A2(NM_001846.4):c.3807T>C (p.G1269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914021" "0" "10" "13" "111155711" "111155711" "subst" "0.347526" "02329" "COL4A2_000088" "g.111155711C>T" "" "" "" "COL4A2(NM_001846.3):c.4040-19C>T, COL4A2(NM_001846.4):c.4040-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914022" "0" "10" "13" "111155773" "111155773" "subst" "0.994337" "02329" "COL4A2_000090" "g.111155773T>C" "" "" "" "COL4A2(NM_001846.3):c.4083T>C (p.T1361=), COL4A2(NM_001846.4):c.4083T>C (p.T1361=), COL4A2-AS1(NR_046583.1):n.187-498A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914023" "0" "10" "13" "111155779" "111155779" "subst" "0.196601" "02329" "COL4A2_000091" "g.111155779G>A" "" "" "" "COL4A2(NM_001846.3):c.4089G>A (p.A1363=), COL4A2(NM_001846.4):c.4089G>A (p.A1363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914024" "0" "10" "13" "111156250" "111156250" "subst" "0.0300703" "02329" "COL4A2_000094" "g.111156250G>A" "" "" "" "COL4A2(NM_001846.2):c.4195G>A (p.(Val1399Ile)), COL4A2(NM_001846.3):c.4195G>A (p.V1399I), COL4A2(NM_001846.4):c.4195G>A (p.V1399I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914025" "0" "10" "13" "111156499" "111156499" "subst" "0.985842" "02329" "COL4A2_000096" "g.111156499C>T" "" "" "" "COL4A2(NM_001846.3):c.4290C>T (p.F1430=), COL4A2(NM_001846.4):c.4290C>T (p.F1430=), COL4A2-AS1(NR_046583.1):n.187-1224G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914026" "0" "10" "13" "111158874" "111158874" "subst" "0.828869" "02329" "COL4A2_000099" "g.111158874A>G" "" "" "" "COL4A2(NM_001846.3):c.4515A>G (p.P1505=), COL4A2(NM_001846.4):c.4515A>G (p.P1505=), COL4A2-AS1(NR_046583.1):n.186+1120T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914027" "0" "10" "13" "111160304" "111160304" "subst" "0.104904" "02329" "COL4A2_000102" "g.111160304G>A" "" "" "" "COL4A2(NM_001846.3):c.4617G>A (p.A1539=), COL4A2(NM_001846.4):c.4617G>A (p.A1539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914028" "0" "50" "13" "111164380" "111164380" "subst" "1.62666E-5" "01804" "COL4A2_000205" "g.111164380G>A" "" "" "" "COL4A2(NM_001846.2):c.4981G>A (p.(Gly1661Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925725" "0" "30" "13" "111090369" "111090369" "subst" "0" "01804" "COL4A2_000206" "g.111090369G>A" "" "" "" "COL4A2(NM_001846.2):c.846G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925726" "0" "10" "13" "111091024" "111091024" "subst" "0.0568091" "02329" "COL4A2_000026" "g.111091024C>T" "" "" "" "COL4A2(NM_001846.3):c.912+9C>T, COL4A2(NM_001846.4):c.912+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925727" "0" "10" "13" "111109670" "111109670" "subst" "0.0101078" "02329" "COL4A2_000040" "g.111109670A>C" "" "" "" "COL4A2(NM_001846.2):c.1340-20A>C (p.(=)), COL4A2(NM_001846.3):c.1340-20A>C, COL4A2(NM_001846.4):c.1340-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925728" "0" "30" "13" "111121570" "111121570" "subst" "0.0188532" "01804" "COL4A2_000058" "g.111121570A>G" "" "" "" "COL4A2(NM_001846.2):c.2102A>G (p.(Lys701Arg)), COL4A2(NM_001846.3):c.2102A>G (p.K701R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925729" "0" "10" "13" "111144412" "111144412" "subst" "0.0948213" "02329" "COL4A2_000076" "g.111144412C>G" "" "" "" "COL4A2(NM_001846.3):c.3455-5C>G, COL4A2(NM_001846.4):c.3455-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925730" "0" "30" "13" "111144448" "111144448" "subst" "0" "01804" "COL4A2_000207" "g.111144448G>A" "" "" "" "COL4A2(NM_001846.2):c.3486G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925731" "0" "10" "13" "111145633" "111145633" "subst" "0.0914329" "02329" "COL4A2_000077" "g.111145633C>T" "" "" "" "COL4A2(NM_001846.3):c.3634+4C>T, COL4A2(NM_001846.4):c.3634+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925732" "0" "30" "13" "111160289" "111160289" "subst" "5.31932E-5" "01804" "COL4A2_000208" "g.111160289G>A" "" "" "" "COL4A2(NM_001846.2):c.4602G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925733" "0" "50" "13" "111160306" "111160306" "subst" "4.48804E-5" "01804" "COL4A2_000209" "g.111160306G>A" "" "" "" "COL4A2(NM_001846.2):c.4619G>A (p.(Arg1540Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930175" "0" "50" "13" "111082748" "111082748" "subst" "0" "02325" "COL4A2_000210" "g.111082748G>A" "" "" "" "COL4A2(NM_001846.4):c.550G>A (p.G184S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930178" "0" "50" "13" "111125287" "111125287" "subst" "0" "02325" "COL4A2_000211" "g.111125287C>T" "" "" "" "COL4A2(NM_001846.4):c.2215C>T (p.P739S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930179" "0" "50" "13" "111134945" "111134945" "subst" "0" "02329" "COL4A2_000212" "g.111134945C>T" "" "" "" "COL4A2(NM_001846.4):c.2841C>T (p.G947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932941" "11" "50" "13" "111077216" "111077216" "subst" "0" "00006" "COL4A2_000213" "g.111077216G>C" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline" "" "" "0" "" "" "g.110424869G>C" "" "VUS" "" "0000932942" "0" "50" "13" "111077216" "111077216" "subst" "0" "00006" "COL4A2_000213" "g.111077216G>C" "" "{PMID:Schonauer 2023:37207645}, {DOI:Schonauer 2023:10.1016/j.ajhg.2023.04.010}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110424869G>C" "" "VUS" "" "0000950055" "0" "30" "13" "110959368" "110959368" "subst" "0.000592821" "01804" "COL4A1_000202" "g.110959368G>T" "" "" "" "COL4A1(NM_001303110.1):c.7C>A (p.(Pro3Thr)), COL4A1(NM_001845.5):c.7C>A (p.P3T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950056" "0" "70" "13" "111077346" "111077346" "subst" "0" "02327" "COL4A2_000011" "g.111077346T>C" "" "" "" "COL4A2(NM_001846.3):c.360+2T>C, COL4A2(NM_001846.4):c.360+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950057" "0" "30" "13" "111119457" "111119457" "subst" "1.62705E-5" "01804" "COL4A2_000214" "g.111119457G>A" "" "" "" "COL4A2(NM_001846.2):c.2095+14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967149" "0" "50" "13" "111009894" "111009894" "subst" "0" "02327" "COL4A2_000215" "g.111009894G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967150" "0" "50" "13" "111102124" "111102124" "subst" "0" "01943" "COL4A2_000216" "g.111102124A>T" "" "" "" "COL4A2(NM_001846.3):c.1177A>T (p.I393F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967152" "0" "30" "13" "111125423" "111125423" "subst" "0" "01804" "COL4A2_000217" "g.111125423G>A" "" "" "" "COL4A2(NM_001846.2):c.2351G>A (p.(Arg784Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972084" "0" "70" "13" "111134953" "111134953" "subst" "0" "01164" "COL4A2_000218" "g.111134953G>T" "" "" "" "" "ACMG: PM1_STR, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "g.110482606G>T" "" "likely pathogenic (dominant)" "ACMG" "0000980561" "0" "50" "13" "111092163" "111092163" "subst" "2.84444E-5" "01804" "COL4A2_000219" "g.111092163G>C" "" "" "" "COL4A2(NM_001846.4):c.940G>C (p.(Gly314Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980562" "0" "30" "13" "111109628" "111109669" "dup" "0" "01804" "COL4A2_000220" "g.111109628_111109669dup" "" "" "" "COL4A2(NM_001846.2):c.1340-62_1340-21dup (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980563" "0" "50" "13" "111114509" "111114509" "subst" "0" "01804" "COL4A2_000221" "g.111114509G>C" "" "" "" "COL4A2(NM_001846.2):c.1645G>C (p.(Asp549His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980564" "0" "50" "13" "111130421" "111130421" "subst" "0" "02327" "COL4A2_000222" "g.111130421G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980565" "0" "30" "13" "111138063" "111138063" "subst" "0.000176098" "01804" "COL4A2_000223" "g.111138063C>T" "" "" "" "COL4A2(NM_001846.2):c.3087C>T (p.(Pro1029=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980566" "0" "50" "13" "111160474" "111160474" "subst" "4.06138E-6" "01804" "COL4A2_000224" "g.111160474C>T" "" "" "" "COL4A2(NM_001846.4):c.4787C>T (p.(Pro1596Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000427" "0" "50" "13" "111090965" "111090965" "subst" "4.06101E-6" "01804" "COL4A2_000129" "g.111090965G>A" "" "" "" "COL4A2(NM_001846.2):c.862G>A (p.(Gly288Ser)), COL4A2(NM_001846.4):c.862G>A (p.G288S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000428" "0" "50" "13" "111111262" "111111262" "subst" "0" "01804" "COL4A2_000225" "g.111111262C>T" "" "" "" "COL4A2(NM_001846.2):c.1577C>T (p.(Pro526Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000429" "0" "50" "13" "111114476" "111114476" "subst" "0" "01804" "COL4A2_000226" "g.111114476A>G" "" "" "" "COL4A2(NM_001846.2):c.1612A>G (p.(Ile538Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000430" "0" "30" "13" "111114695" "111114695" "subst" "1.22073E-5" "01804" "COL4A2_000227" "g.111114695T>A" "" "" "" "COL4A2(NM_001846.2):c.1740T>A (p.(Asp580Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000431" "0" "30" "13" "111125440" "111125440" "subst" "0" "01804" "COL4A2_000228" "g.111125440C>G" "" "" "" "COL4A2(NM_001846.2):c.2368C>G (p.(Pro790Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000432" "0" "50" "13" "111138053" "111138053" "subst" "0" "01804" "COL4A2_000229" "g.111138053C>G" "" "" "" "COL4A2(NM_001846.2):c.3077C>G (p.(Pro1026Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000433" "0" "50" "13" "111145593" "111145593" "subst" "4.06187E-6" "01804" "COL4A2_000230" "g.111145593G>A" "" "" "" "COL4A2(NM_001846.2):c.3598G>A (p.(Gly1200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000434" "0" "30" "13" "111156226" "111156226" "subst" "0" "01804" "COL4A2_000231" "g.111156226G>A" "" "" "" "COL4A2(NM_001846.2):c.4171G>A (p.(Ala1391Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000435" "0" "50" "13" "111164386" "111164386" "subst" "0.000513485" "01804" "COL4A2_000153" "g.111164386G>A" "" "" "" "COL4A2(NM_001846.2):c.4987G>A (p.(Gly1663Ser)), COL4A2(NM_001846.3):c.4987G>A (p.G1663S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007086" "0" "90" "13" "111082300" "111082300" "subst" "2.1717E-5" "03779" "COL4A2_000232" "g.111082300T>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs535492357" "0" "" "" "" "" "pathogenic" "" "0001015031" "0" "30" "13" "111102670" "111102670" "subst" "2.03398E-5" "02325" "COL4A2_000233" "g.111102670C>T" "" "" "" "COL4A2(NM_001846.4):c.1208C>T (p.P403L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015033" "0" "30" "13" "111117797" "111117797" "subst" "0" "01804" "COL4A2_000234" "g.111117797A>G" "" "" "" "COL4A2(NM_001846.2):c.1822A>G (p.(Ile608Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015034" "0" "30" "13" "111118450" "111118450" "subst" "0.0147054" "01804" "COL4A2_000235" "g.111118450C>T" "" "" "" "COL4A2(NM_001846.2):c.2038+41C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015035" "0" "30" "13" "111132782" "111132782" "subst" "0.00269276" "01804" "COL4A2_000236" "g.111132782G>A" "" "" "" "COL4A2(NM_001846.2):c.2758+45G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015036" "0" "70" "13" "111142079" "111142079" "del" "0" "01804" "COL4A2_000119" "g.111142079del" "" "" "" "COL4A2(NM_001846.2):c.3293del (p.(Asn1098IlefsTer8))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015037" "0" "30" "13" "111147696" "111147696" "subst" "0.0011159" "01804" "COL4A2_000237" "g.111147696C>T" "" "" "" "COL4A2(NM_001846.2):c.3642C>T (p.(Asp1214=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026246" "0" "30" "13" "111109648" "111109648" "subst" "0.000127784" "01804" "COL4A2_000238" "g.111109648G>A" "" "" "" "COL4A2(NM_001846.2):c.1340-42G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026247" "0" "50" "13" "111109725" "111109725" "subst" "0.001795" "01943" "COL4A2_000041" "g.111109725G>A" "" "" "" "COL4A2(NM_001846.2):c.1375G>A (p.(Ala459Thr)), COL4A2(NM_001846.3):c.1375G>A (p.A459T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026248" "0" "50" "13" "111111123" "111111123" "subst" "9.75158E-5" "01943" "COL4A2_000239" "g.111111123G>A" "" "" "" "COL4A2(NM_001846.2):c.1438G>A (p.(Ala480Thr)), COL4A2(NM_001846.3):c.1438G>A (p.A480T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026249" "0" "50" "13" "111117923" "111117923" "subst" "0.00186418" "01943" "COL4A2_000055" "g.111117923C>T" "" "" "" "COL4A2(NM_001846.2):c.1948C>T (p.(Pro650Ser)), COL4A2(NM_001846.3):c.1948C>T (p.P650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026250" "0" "70" "13" "111132648" "111132648" "subst" "0" "02329" "COL4A2_000139" "g.111132648G>A" "" "" "" "COL4A2(NM_001846.2):c.2669G>A (p.(Gly890Glu)), COL4A2(NM_001846.4):c.2669G>A (p.G890E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026251" "0" "10" "13" "111143601" "111143601" "subst" "0.00920085" "02329" "COL4A2_000073" "g.111143601A>G" "" "" "" "COL4A2(NM_001846.2):c.3368A>G (p.(Glu1123Gly)), COL4A2(NM_001846.3):c.3368A>G (p.E1123G), COL4A2(NM_001846.4):c.3368A>G (p.E1123G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026252" "0" "30" "13" "111144569" "111144569" "subst" "0.0290187" "01804" "COL4A2_000240" "g.111144569G>A" "" "" "" "COL4A2(NM_001846.2):c.3562+45G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026253" "0" "30" "13" "111156248" "111156248" "subst" "0" "01804" "COL4A2_000241" "g.111156248C>A" "" "" "" "COL4A2(NM_001846.2):c.4193C>A (p.(Ala1398Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026254" "0" "30" "13" "111156562" "111156562" "subst" "0" "01804" "COL4A2_000242" "g.111156562C>T" "" "" "" "COL4A2(NM_001846.2):c.4353C>T (p.(Phe1451=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026255" "0" "30" "13" "111158937" "111158937" "subst" "0.00129045" "01804" "COL4A2_000100" "g.111158937G>A" "" "" "" "COL4A2(NM_001846.2):c.4578G>A (p.(Ala1526=)), COL4A2(NM_001846.3):c.4578G>A (p.A1526=), COL4A2(NM_001846.4):c.4578G>A (p.A1526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026256" "0" "50" "13" "111160333" "111160333" "subst" "0" "02329" "COL4A2_000243" "g.111160333G>A" "" "" "" "COL4A2(NM_001846.4):c.4646G>A (p.C1549Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030297" "0" "70" "13" "111155828" "111155828" "subst" "0" "03779" "COL4A2_000244" "g.111155828G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001030298" "0" "70" "13" "111156194" "111156194" "subst" "0" "03779" "COL4A2_000245" "g.111156194G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001030881" "0" "70" "13" "111154131" "111154131" "subst" "0" "03779" "COL4A2_000246" "g.111154131G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001039569" "0" "30" "13" "111077051" "111077051" "subst" "6.49761E-5" "01804" "COL4A2_000247" "g.111077051G>A" "" "" "" "COL4A2(NM_001846.2):c.181-30G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039570" "0" "30" "13" "111080964" "111080964" "subst" "0.00271062" "01804" "COL4A2_000248" "g.111080964C>T" "" "" "" "COL4A2(NM_001846.2):c.477+34C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039571" "0" "30" "13" "111117963" "111117963" "subst" "0.000126506" "01804" "COL4A2_000249" "g.111117963A>G" "" "" "" "COL4A2(NM_001846.4):c.1978+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039572" "0" "30" "13" "111130363" "111130363" "subst" "6.33226E-5" "01804" "COL4A2_000250" "g.111130363G>A" "" "" "" "COL4A2(NM_001846.4):c.2439G>A (p.(Met813Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039573" "0" "30" "13" "111145548" "111145548" "subst" "4.06379E-6" "01804" "COL4A2_000251" "g.111145548A>G" "" "" "" "COL4A2(NM_001846.4):c.3563-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039574" "0" "30" "13" "111158800" "111158800" "subst" "8.28459E-6" "01804" "COL4A2_000252" "g.111158800A>G" "" "" "" "COL4A2(NM_001846.4):c.4441A>G (p.(Met1481Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039575" "0" "30" "13" "111158852" "111158852" "subst" "4.53642E-5" "01804" "COL4A2_000253" "g.111158852C>T" "" "" "" "COL4A2(NM_001846.4):c.4493C>T (p.(Thr1498Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039576" "0" "50" "13" "111160459" "111160459" "subst" "8.12183E-6" "01804" "COL4A2_000106" "g.111160459C>G" "" "" "" "COL4A2(NM_001846.3):c.4772C>G (p.S1591C), COL4A2(NM_001846.4):c.4772C>G (p.(Ser1591Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039577" "0" "30" "13" "111164467" "111164467" "subst" "0.000508639" "01804" "COL4A2_000165" "g.111164467G>A" "" "" "" "COL4A2(NM_001846.4):c.5068G>A (p.(Ala1690Thr), p.A1690T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046408" "0" "30" "13" "110959421" "110959421" "subst" "0" "01804" "COL4A1_000340" "g.110959421G>A" "" "" "" "COL4A1(NM_001303110.1):c.-47C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046409" "0" "30" "13" "110960165" "110960165" "subst" "0" "01804" "COL4A1_000341" "g.110960165T>A" "" "" "" "COL4A2(NM_001846.2):c.-44-42T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046410" "0" "30" "13" "111102815" "111102815" "subst" "0.00118769" "01804" "COL4A2_000254" "g.111102815A>G" "" "" "" "COL4A2(NM_001846.2):c.1339+14A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046411" "0" "30" "13" "111109745" "111109745" "subst" "5.70548E-5" "01804" "COL4A2_000255" "g.111109745C>T" "" "" "" "COL4A2(NM_001846.2):c.1395C>T (p.(Pro465=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054730" "0" "50" "13" "110960206" "110960206" "subst" "1.73327E-5" "01804" "COL4A1_000349" "g.110960206G>C" "" "" "" "COL4A2(NM_001846.4):c.-44-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054731" "0" "30" "13" "110960298" "110960298" "subst" "8.19854E-6" "01804" "COL4A1_000350" "g.110960298A>G" "" "" "" "COL4A2(NM_001846.4):c.44+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054732" "0" "30" "13" "111102790" "111102790" "subst" "0.00122518" "01804" "COL4A2_000131" "g.111102790C>G" "" "" "" "COL4A2(NM_001846.3):c.1328C>G (p.P443R), COL4A2(NM_001846.4):c.1328C>G (p.(Pro443Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054733" "0" "50" "13" "111109762" "111109762" "subst" "0.000187639" "01804" "COL4A2_000042" "g.111109762G>A" "" "" "" "COL4A2(NM_001846.3):c.1412G>A (p.R471H), COL4A2(NM_001846.4):c.1412G>A (p.(Arg471His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054734" "0" "30" "13" "111111123" "111111123" "subst" "9.75158E-5" "01804" "COL4A2_000239" "g.111111123G>A" "" "" "" "COL4A2(NM_001846.2):c.1438G>A (p.(Ala480Thr)), COL4A2(NM_001846.3):c.1438G>A (p.A480T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054735" "0" "30" "13" "111118335" "111118335" "subst" "0" "01804" "COL4A2_000256" "g.111118335A>T" "" "" "" "COL4A2(NM_001846.2):c.1979-15A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054736" "0" "50" "13" "111125441" "111125441" "subst" "0" "01804" "COL4A2_000257" "g.111125441C>T" "" "" "" "COL4A2(NM_001846.4):c.2369C>T (p.(Pro790Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054737" "0" "50" "13" "111130470" "111130470" "subst" "1.28212E-5" "01804" "COL4A2_000258" "g.111130470A>C" "" "" "" "COL4A2(NM_001846.4):c.2546A>C (p.(Gln849Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054738" "0" "30" "13" "111132699" "111132699" "subst" "1.62973E-5" "01804" "COL4A2_000259" "g.111132699A>C" "" "" "" "COL4A2(NM_001846.4):c.2720A>C (p.(Lys907Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054739" "0" "30" "13" "111158738" "111158778" "del" "0" "01804" "COL4A2_000260" "g.111158738_111158778del" "" "" "" "COL4A2(NM_001846.4):c.4403-24_4419del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054740" "0" "30" "13" "111158967" "111158967" "subst" "0" "01804" "COL4A2_000261" "g.111158967A>C" "" "" "" "COL4A2(NM_001846.2):c.4594+14A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054741" "0" "30" "13" "111160403" "111160403" "subst" "0.000280224" "01804" "COL4A2_000150" "g.111160403G>A" "" "" "" "COL4A2(NM_001846.2):c.4716G>A (p.(Pro1572=)), COL4A2(NM_001846.3):c.4716G>A (p.P1572=)" "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 COL4A2 ## Count = 354 "{{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}}" "0000240209" "00005460" "50" "180" "1" "180" "1" "c.180+1G>A" "r.spl" "p.?" "" "0000249184" "00005460" "10" "4515" "0" "4515" "0" "c.4515A>G" "r.(?)" "p.(Pro1505=)" "" "0000250729" "00005460" "30" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Glu1123Gly)" "" "0000253081" "00005460" "10" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Glu1123Gly)" "" "0000253229" "00005460" "10" "4515" "0" "4515" "0" "c.4515A>G" "r.(?)" "p.(Pro1505=)" "" "0000253867" "00005460" "10" "1340" "-20" "1340" "-20" "c.1340-20A>C" "r.(=)" "p.(=)" "" "0000253868" "00005460" "10" "2903" "-12" "2903" "-12" "c.2903-12A>G" "r.(=)" "p.(=)" "" "0000253869" "00005460" "10" "3346" "7" "3346" "7" "c.3346+7A>G" "r.(=)" "p.(=)" "" "0000254245" "00005460" "30" "888" "0" "888" "0" "c.888A>G" "r.(?)" "p.(Gly296=)" "" "0000255280" "00005460" "30" "549" "16" "549" "16" "c.549+16A>T" "r.(=)" "p.(=)" "" "0000256191" "00005460" "50" "2102" "0" "2102" "0" "c.2102A>G" "r.(?)" "p.(Lys701Arg)" "" "0000256339" "00005460" "50" "2437" "0" "2437" "0" "c.2437A>T" "r.(?)" "p.(Met813Leu)" "" "0000266960" "00005460" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Pro336=)" "" "0000266961" "00005460" "10" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Pro496=)" "" "0000266962" "00005460" "10" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Arg517Lys)" "" "0000266963" "00005460" "50" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Asp574Asn)" "" "0000266964" "00005460" "10" "2048" "0" "2048" "0" "c.2048G>C" "r.(?)" "p.(Gly683Ala)" "" "0000266965" "00005460" "10" "2588" "-11" "2588" "-11" "c.2588-11C>T" "r.(=)" "p.(=)" "" "0000266966" "00005460" "10" "2759" "-5" "2759" "-5" "c.2759-5T>C" "r.spl?" "p.?" "" "0000266967" "00005460" "10" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Thr99=)" "" "0000266968" "00005460" "10" "3804" "0" "3804" "0" "c.3804=" "r.(=)" "p.(Pro1268=)" "" "0000266969" "00005460" "10" "3807" "0" "3807" "0" "c.3807=" "r.(=)" "p.(Gly1269=)" "" "0000266970" "00005460" "10" "4290" "0" "4290" "0" "c.4290=" "r.(=)" "p.(Phe1430=)" "" "0000266971" "00005460" "30" "44" "9" "44" "9" "c.44+9C>T" "r.(=)" "p.(=)" "" "0000266972" "00005460" "30" "4578" "0" "4578" "0" "c.4578G>A" "r.(?)" "p.(Ala1526=)" "" "0000266973" "00005460" "30" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.(Pro159=)" "" "0000266974" "00005460" "10" "862" "-41" "862" "-41" "c.862-41G>A" "r.(=)" "p.(=)" "" "0000266975" "00005460" "10" "862" "-56" "862" "-56" "c.862-56T>C" "r.(=)" "p.(=)" "" "0000266977" "00005460" "10" "4083" "0" "4083" "0" "c.4083=" "r.(=)" "p.(Thr1361=)" "" "0000274024" "00005460" "10" "-564" "0" "-564" "0" "c.-564C>G" "r.(?)" "p.(=)" "" "0000274103" "00005460" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Pro336=)" "" "0000274104" "00005460" "30" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Lys337=)" "" "0000274105" "00005460" "10" "1012" "-23" "1012" "-23" "c.1012-23G>A" "r.(=)" "p.(=)" "" "0000274106" "00005460" "10" "1078" "135" "1078" "135" "c.1078+135dup" "r.(=)" "p.(=)" "" "0000274107" "00005460" "30" "1079" "-16" "1079" "-16" "c.1079-16C>T" "r.(=)" "p.(=)" "" "0000274108" "00005460" "10" "1095" "0" "1095" "0" "c.1095G>A" "r.(?)" "p.(Pro365=)" "" "0000274109" "00005460" "30" "1149" "0" "1149" "0" "c.1149G>A" "r.(?)" "p.(Pro383=)" "" "0000274110" "00005460" "10" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Ile393=)" "" "0000274111" "00005460" "50" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471His)" "" "0000274112" "00005460" "10" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Pro496=)" "" "0000274113" "00005460" "10" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Arg517Lys)" "" "0000274114" "00005460" "30" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Pro520=)" "" "0000274115" "00005460" "30" "1597" "-8" "1597" "-8" "c.1597-8T>A" "r.(=)" "p.(=)" "" "0000274116" "00005460" "30" "1623" "0" "1623" "0" "c.1623C>T" "r.(?)" "p.(Pro541=)" "" "0000274117" "00005460" "10" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Thr555=)" "" "0000274118" "00005460" "10" "1669" "21" "1669" "21" "c.1669+21G>A" "r.(=)" "p.(=)" "" "0000274119" "00005460" "10" "1776" "20" "1776" "20" "c.1776+20G>A" "r.(=)" "p.(=)" "" "0000274120" "00005460" "10" "1777" "-7" "1777" "-7" "c.1777-7C>T" "r.(=)" "p.(=)" "" "0000274121" "00005460" "10" "1979" "-6" "1979" "-6" "c.1979-6C>T" "r.(=)" "p.(=)" "" "0000274122" "00005460" "10" "2048" "0" "2048" "0" "c.2048G>C" "r.(?)" "p.(Gly683Ala)" "" "0000274123" "00005460" "10" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Pro718Ser)" "" "0000274124" "00005460" "50" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Pro734Ser)" "" "0000274125" "00005460" "10" "2587" "8" "2587" "8" "c.2587+8C>T" "r.(=)" "p.(=)" "" "0000274126" "00005460" "10" "2588" "-11" "2588" "-11" "c.2588-11C>T" "r.(=)" "p.(=)" "" "0000274127" "00005460" "10" "2759" "-5" "2759" "-5" "c.2759-5T>C" "r.spl?" "p.?" "" "0000274128" "00005460" "10" "3026" "-27" "3026" "-27" "c.3026-27G>T" "r.(=)" "p.(=)" "" "0000274129" "00005460" "10" "315" "14" "315" "14" "c.315+14G>T" "r.(=)" "p.(=)" "" "0000274130" "00005460" "10" "315" "19" "315" "19" "c.315+19T>C" "r.(=)" "p.(=)" "" "0000274132" "00005460" "10" "3272" "-20" "3272" "-20" "c.3272-20G>A" "r.(=)" "p.(=)" "" "0000274133" "00005460" "30" "3326" "0" "3326" "0" "c.3326G>A" "r.(?)" "p.(Arg1109Gln)" "" "0000274134" "00005460" "10" "3346" "26" "3346" "26" "c.3346+26C>T" "r.(=)" "p.(=)" "" "0000274135" "00005460" "30" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(Phe1132=)" "" "0000274136" "00005460" "10" "3455" "-5" "3455" "-5" "c.3455-5C>G" "r.spl?" "p.?" "" "0000274137" "00005460" "90" "360" "2" "360" "2" "c.360+2T>C" "r.spl?" "p.?" "" "0000274138" "00005460" "10" "360" "60" "360" "60" "c.360+60del" "r.(=)" "p.(=)" "" "0000274139" "00005460" "10" "3634" "13" "3634" "13" "c.3634+13G>A" "r.(=)" "p.(=)" "" "0000274140" "00005460" "10" "3634" "4" "3634" "4" "c.3634+4C>T" "r.spl?" "p.?" "" "0000274141" "00005460" "30" "3717" "0" "3717" "0" "c.3717C>T" "r.(?)" "p.(Gly1239=)" "" "0000274142" "00005460" "10" "3804" "0" "3804" "0" "c.3804=" "r.(=)" "p.(Pro1268=)" "" "0000274144" "00005460" "10" "3807" "0" "3807" "0" "c.3807=" "r.(=)" "p.(Gly1269=)" "" "0000274145" "00005460" "10" "3877" "28" "3877" "28" "c.3877+28C>T" "r.(=)" "p.(=)" "" "0000274146" "00005460" "10" "3877" "29" "3877" "29" "c.3877+29G>A" "r.(=)" "p.(=)" "" "0000274147" "00005460" "10" "4040" "-19" "4040" "-19" "c.4040-19C>T" "r.(=)" "p.(=)" "" "0000274148" "00005460" "50" "4064" "0" "4064" "0" "c.4064T>C" "r.(?)" "p.(Met1355Thr)" "" "0000274149" "00005460" "10" "4089" "0" "4089" "0" "c.4089G>A" "r.(?)" "p.(Ala1363=)" "" "0000274150" "00005460" "30" "4146" "0" "4146" "0" "c.4146C>T" "r.(?)" "p.(Pro1382=)" "" "0000274151" "00005460" "30" "4179" "0" "4179" "0" "c.4179C>T" "r.(?)" "p.(Ile1393=)" "" "0000274152" "00005460" "10" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Val1399Ile)" "" "0000274153" "00005460" "10" "4290" "0" "4290" "0" "c.4290=" "r.(=)" "p.(Phe1430=)" "" "0000274154" "00005460" "30" "45" "-13" "45" "-13" "c.45-13C>T" "r.(=)" "p.(=)" "" "0000274155" "00005460" "30" "4578" "0" "4578" "0" "c.4578G>A" "r.(?)" "p.(Ala1526=)" "" "0000274156" "00005460" "30" "4594" "30" "4594" "30" "c.4594+30C>G" "r.(=)" "p.(=)" "" "0000274157" "00005460" "10" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Ala1539=)" "" "0000274158" "00005460" "30" "4737" "0" "4737" "0" "c.4737C>T" "r.(?)" "p.(Ala1579=)" "" "0000274159" "00005460" "50" "4772" "0" "4772" "0" "c.4772C>G" "r.(?)" "p.(Ser1591Cys)" "" "0000274160" "00005460" "10" "4882" "-15" "4882" "-15" "c.4882-15C>T" "r.(=)" "p.(=)" "" "0000274161" "00005460" "10" "4882" "-23" "4882" "-23" "c.4882-23G>T" "r.(=)" "p.(=)" "" "0000274162" "00005460" "30" "4882" "-37" "4882" "-36" "c.4882-37_4882-36del" "r.(=)" "p.(=)" "" "0000274163" "00005460" "10" "4882" "-7" "4882" "-7" "c.4882-7T>C" "r.(=)" "p.(=)" "" "0000274164" "00005460" "30" "4968" "0" "4968" "0" "c.4968C>T" "r.(?)" "p.(Ile1656=)" "" "0000274165" "00005460" "50" "4985" "0" "4985" "0" "c.4985G>A" "r.(?)" "p.(Arg1662His)" "" "0000274166" "00005460" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000274167" "00005460" "10" "549" "15" "549" "15" "c.549+15G>C" "r.(=)" "p.(=)" "" "0000274168" "00005460" "10" "550" "-13" "550" "-13" "c.550-13T>C" "r.(=)" "p.(=)" "" "0000274169" "00005460" "50" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Val192Phe)" "" "0000274170" "00005460" "50" "585" "1" "585" "1" "c.585+1G>C" "r.spl?" "p.?" "" "0000274171" "00005460" "10" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Pro198=)" "" "0000274172" "00005460" "10" "649" "-16" "649" "-16" "c.649-16C>T" "r.(=)" "p.(=)" "" "0000274173" "00005460" "30" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Pro248=)" "" "0000274174" "00005460" "10" "912" "142" "912" "142" "c.912+142C>A" "r.(=)" "p.(=)" "" "0000274175" "00005460" "10" "912" "9" "912" "9" "c.912+9C>T" "r.(=)" "p.(=)" "" "0000274176" "00005460" "30" "913" "-21" "913" "-21" "c.913-21T>C" "r.(=)" "p.(=)" "" "0000274177" "00005460" "50" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322Gln)" "" "0000274178" "00005460" "30" "99" "16" "99" "16" "c.99+16C>T" "r.(=)" "p.(=)" "" "0000323513" "00005460" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Cys)" "" "0000323514" "00005460" "30" "315" "19" "315" "19" "c.315+19T>C" "r.(=)" "p.(=)" "" "0000323515" "00005460" "30" "574" "0" "574" "0" "c.574G>T" "r.(?)" "p.(Val192Phe)" "" "0000323516" "00005460" "30" "649" "-16" "649" "-16" "c.649-16C>T" "r.(=)" "p.(=)" "" "0000323517" "00005460" "30" "888" "0" "888" "0" "c.888A>G" "r.(?)" "p.(Gly296=)" "" "0000323518" "00005460" "50" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322Gln)" "" "0000323521" "00005460" "30" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Ala459Thr)" "" "0000323522" "00005460" "30" "1500" "0" "1500" "0" "c.1500A>T" "r.(?)" "p.(Gly500=)" "" "0000323524" "00005460" "30" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Pro650Ser)" "" "0000323525" "00005460" "30" "1979" "-6" "1979" "-6" "c.1979-6C>T" "r.(=)" "p.(=)" "" "0000323526" "00005460" "50" "2176" "0" "2176" "0" "c.2176G>C" "r.(?)" "p.(Gly726Arg)" "" "0000323528" "00005460" "50" "3271" "1" "3271" "1" "c.3271+1G>A" "r.spl?" "p.?" "" "0000323529" "00005460" "30" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Glu1123Gly)" "" "0000323533" "00005460" "30" "3634" "13" "3634" "13" "c.3634+13G>A" "r.(=)" "p.(=)" "" "0000323535" "00005460" "30" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Val1399Ile)" "" "0000323536" "00005460" "30" "4256" "0" "4256" "0" "c.4256T>C" "r.(?)" "p.(Met1419Thr)" "" "0000323541" "00005460" "30" "4882" "-15" "4882" "-15" "c.4882-15C>T" "r.(=)" "p.(=)" "" "0000323542" "00005460" "30" "4882" "-7" "4882" "-7" "c.4882-7T>C" "r.(=)" "p.(=)" "" "0000323543" "00005460" "50" "4928" "0" "4928" "0" "c.4928C>T" "r.(?)" "p.(Pro1643Leu)" "" "0000323545" "00005460" "30" "4929" "0" "4929" "0" "c.4929G>A" "r.(?)" "p.(Pro1643=)" "" "0000343284" "00005460" "50" "2110" "0" "2110" "0" "c.2110C>T" "r.(?)" "p.(Arg704Ter)" "" "0000345737" "00005460" "50" "4465" "0" "4465" "0" "c.4465G>A" "r.(?)" "p.(Gly1489Ser)" "" "0000549790" "00005460" "10" "-564" "0" "-564" "0" "c.-564C>G" "r.(?)" "p.(=)" "" "0000549791" "00005460" "30" "-552" "0" "-552" "0" "c.-552G>T" "r.(?)" "p.(=)" "" "0000549792" "00005460" "10" "-456" "0" "-456" "0" "c.-456C>A" "r.(?)" "p.(=)" "" "0000549793" "00005460" "30" "99" "4" "99" "4" "c.99+4A>G" "r.spl?" "p.?" "" "0000549794" "00005460" "30" "99" "4" "99" "4" "c.99+4A>G" "r.spl?" "p.?" "" "0000549795" "00005460" "50" "181" "-18" "181" "-18" "c.181-18C>A" "r.(=)" "p.(=)" "" "0000549796" "00005460" "50" "242" "0" "242" "0" "c.242C>G" "r.(?)" "p.(Pro81Arg)" "" "0000549797" "00005460" "30" "316" "-17" "316" "-17" "c.316-17dup" "r.(=)" "p.(=)" "" "0000549798" "00005460" "30" "316" "-17" "316" "-17" "c.316-17dup" "r.(=)" "p.(=)" "" "0000549799" "00005460" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Arg179=)" "" "0000549800" "00005460" "30" "549" "4" "549" "4" "c.549+4C>T" "r.spl?" "p.?" "" "0000549801" "00005460" "30" "608" "0" "608" "0" "c.608A>T" "r.(?)" "p.(His203Leu)" "" "0000549802" "00005460" "30" "861" "15" "861" "15" "c.861+15G>A" "r.(=)" "p.(=)" "" "0000549803" "00005460" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Gly288Ser)" "" "0000549804" "00005460" "30" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Lys337=)" "" "0000549806" "00005460" "10" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Pro443Arg)" "" "0000549807" "00005460" "10" "1340" "-248" "1340" "-248" "c.1340-248del" "r.(=)" "p.(=)" "" "0000549808" "00005460" "50" "1513" "0" "1513" "0" "c.1513G>A" "r.(?)" "p.(Ala505Thr)" "" "0000549809" "00005460" "30" "1545" "0" "1545" "0" "c.1545G>C" "r.(?)" "p.(Gly515=)" "" "0000549810" "00005460" "30" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Asp574Asn)" "" "0000549811" "00005460" "50" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Pro649Ser)" "" "0000549813" "00005460" "30" "2039" "-3" "2039" "-3" "c.2039-3C>T" "r.spl?" "p.?" "" "0000549814" "00005460" "50" "2185" "0" "2185" "0" "c.2185G>A" "r.(?)" "p.(Gly729Arg)" "" "0000549815" "00005460" "50" "2437" "0" "2437" "0" "c.2437A>T" "r.(?)" "p.(Met813Leu)" "" "0000549816" "00005460" "30" "2536" "0" "2536" "0" "c.2536G>C" "r.(?)" "p.(Ala846Pro)" "" "0000549817" "00005460" "50" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Gly890Glu)" "" "0000549818" "00005460" "30" "3234" "0" "3234" "0" "c.3234A>C" "r.(?)" "p.(Ala1078=)" "" "0000549819" "00005460" "30" "3326" "0" "3326" "0" "c.3326G>A" "r.(?)" "p.(Arg1109Gln)" "" "0000549820" "00005460" "30" "3346" "7" "3346" "7" "c.3346+7A>G" "r.(=)" "p.(=)" "" "0000549821" "00005460" "70" "3356" "0" "3356" "0" "c.3356G>T" "r.(?)" "p.(Gly1119Val)" "" "0000549822" "00005460" "30" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(Phe1132=)" "" "0000549823" "00005460" "50" "3412" "0" "3412" "0" "c.3412G>A" "r.(?)" "p.(Val1138Met)" "" "0000549825" "00005460" "30" "3563" "-4" "3563" "-4" "c.3563-4G>C" "r.spl?" "p.?" "" "0000549826" "00005460" "50" "3786" "0" "3786" "0" "c.3786A>G" "r.(?)" "p.(Pro1262=)" "" "0000549827" "00005460" "30" "3877" "15" "3877" "15" "c.3877+15T>C" "r.(=)" "p.(=)" "" "0000549828" "00005460" "10" "4083" "0" "4083" "0" "c.4083=" "r.(=)" "p.(Thr1361=)" "" "0000549829" "00005460" "70" "4147" "0" "4147" "0" "c.4147G>A" "r.(?)" "p.(Gly1383Arg)" "" "0000549830" "00005460" "70" "4165" "0" "4165" "0" "c.4165G>A" "r.(?)" "p.(Gly1389Arg)" "" "0000549831" "00005460" "50" "4276" "0" "4276" "0" "c.4276G>A" "r.(?)" "p.(Gly1426Arg)" "" "0000549832" "00005460" "30" "4400" "0" "4400" "0" "c.4400A>C" "r.(?)" "p.(Glu1467Ala)" "" "0000549833" "00005460" "30" "4716" "0" "4716" "0" "c.4716G>A" "r.(?)" "p.(Pro1572=)" "" "0000549834" "00005460" "50" "4811" "0" "4811" "0" "c.4811G>A" "r.(?)" "p.(Ser1604Asn)" "" "0000549835" "00005460" "30" "4922" "0" "4922" "0" "c.4922T>C" "r.(?)" "p.(Val1641Ala)" "" "0000549836" "00005460" "50" "4987" "0" "4987" "0" "c.4987G>A" "r.(?)" "p.(Gly1663Ser)" "" "0000549837" "00005460" "50" "5066" "0" "5066" "0" "c.5066C>T" "r.(?)" "p.(Ser1689Phe)" "" "0000578295" "00005460" "50" "2902" "5" "2902" "5" "c.2902+5G>C" "r.(?)" "p.?" "" "0000604246" "00005460" "50" "2200" "0" "2200" "0" "c.2200C>T" "r.(?)" "p.(Pro734Ser)" "" "0000604247" "00005460" "50" "4684" "0" "4684" "0" "c.4684G>A" "r.(?)" "p.(Asp1562Asn)" "" "0000614490" "00005460" "30" "398" "0" "398" "0" "c.398G>T" "r.(?)" "p.(Gly133Val)" "" "0000614491" "00005460" "30" "1895" "0" "1895" "0" "c.1895G>C" "r.(?)" "p.(Arg632Pro)" "" "0000614492" "00005460" "30" "2011" "0" "2011" "0" "c.2011G>A" "r.(?)" "p.(Gly671Ser)" "" "0000614493" "00005460" "50" "2087" "0" "2087" "0" "c.2087G>A" "r.(?)" "p.(Gly696Asp)" "" "0000614494" "00005460" "30" "3277" "0" "3277" "0" "c.3277A>G" "r.(?)" "p.(Ile1093Val)" "" "0000614495" "00005460" "30" "3346" "5" "3346" "5" "c.3346+5G>A" "r.spl?" "p.?" "" "0000614496" "00005460" "30" "3563" "-4" "3563" "-4" "c.3563-4G>C" "r.spl?" "p.?" "" "0000614497" "00005460" "70" "4147" "0" "4147" "0" "c.4147G>A" "r.(?)" "p.(Gly1383Arg)" "" "0000614498" "00005460" "30" "4209" "0" "4209" "0" "c.4209A>G" "r.(?)" "p.(Thr1403=)" "" "0000614499" "00005460" "50" "5068" "0" "5068" "0" "c.5068G>A" "r.(?)" "p.(Ala1690Thr)" "" "0000623022" "00005460" "30" "1020" "0" "1020" "0" "c.1020C>T" "r.(?)" "p.(Ala340=)" "" "0000648695" "00005460" "10" "2102" "0" "2102" "0" "c.2102A>G" "r.(?)" "p.(Lys701Arg)" "" "0000648696" "00005460" "30" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Glu1123Gly)" "" "0000657245" "00005460" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Cys)" "" "0000657246" "00005460" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "0000660165" "00005460" "70" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Gly1024Glu)" "34" "0000663263" "00005460" "50" "4226" "0" "4226" "0" "c.4226G>A" "r.(?)" "p.(Arg1409Lys)" "" "0000679719" "00005460" "30" "445" "0" "445" "0" "c.445C>G" "r.(?)" "p.(Pro149Ala)" "" "0000679720" "00005460" "30" "1500" "0" "1500" "0" "c.1500A>T" "r.(?)" "p.(Gly500=)" "" "0000679721" "00005460" "30" "2038" "9" "2038" "9" "c.2038+9G>T" "r.(=)" "p.(=)" "" "0000691473" "00005460" "30" "1263" "0" "1263" "0" "c.1263C>T" "r.(?)" "p.(Tyr421=)" "" "0000691474" "00005460" "30" "1720" "0" "1720" "0" "c.1720G>A" "r.(?)" "p.(Asp574Asn)" "" "0000691475" "00005460" "50" "5066" "0" "5066" "0" "c.5066C>T" "r.(?)" "p.(Ser1689Phe)" "" "0000724354" "00005460" "30" "2274" "0" "2274" "0" "c.2274C>T" "r.(?)" "p.(Ile758=)" "" "0000724355" "00005460" "50" "2395" "0" "2395" "0" "c.2395C>T" "r.(?)" "p.(Pro799Ser)" "" "0000724356" "00005460" "30" "2903" "-7" "2903" "-7" "c.2903-7C>T" "r.(=)" "p.(=)" "" "0000724357" "00005460" "50" "4757" "0" "4757" "0" "c.4757A>G" "r.(?)" "p.(Tyr1586Cys)" "" "0000765662" "00005460" "70" "2372" "0" "2372" "0" "c.2372G>A" "r.(?)" "p.(Gly791Glu)" "" "0000786818" "00005460" "90" "3205" "0" "3205" "0" "c.3205del" "r.(?)" "p.(Arg1069GlyfsTer29)" "34" "0000806015" "00005460" "50" "1216" "0" "1216" "0" "c.1216A>G" "r.(?)" "p.(Met406Val)" "" "0000806016" "00005460" "30" "2147" "0" "2147" "0" "c.2147C>G" "r.(?)" "p.(Pro716Arg)" "" "0000806017" "00005460" "30" "2532" "0" "2532" "0" "c.2532A>G" "r.(?)" "p.(Pro844=)" "" "0000806018" "00005460" "30" "3018" "0" "3018" "0" "c.3018C>T" "r.(?)" "p.(Gly1006=)" "" "0000806019" "00005460" "30" "3177" "0" "3177" "0" "c.3177T>C" "r.(?)" "p.(Ile1059=)" "" "0000863198" "00005460" "50" "99" "16" "99" "16" "c.99+16C>T" "r.(=)" "p.(=)" "" "0000863199" "00005460" "10" "315" "14" "315" "14" "c.315+14G>T" "r.(=)" "p.(=)" "" "0000863200" "00005460" "70" "360" "2" "360" "2" "c.360+2T>C" "r.spl?" "p.?" "" "0000863201" "00005460" "10" "549" "15" "549" "15" "c.549+15G>C" "r.(=)" "p.(=)" "" "0000863202" "00005460" "30" "550" "-13" "550" "-13" "c.550-13T>C" "r.(=)" "p.(=)" "" "0000863203" "00005460" "50" "585" "0" "585" "0" "c.585G>C" "r.(?)" "p.(Gln195His)" "" "0000863204" "00005460" "10" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Pro198=)" "" "0000863205" "00005460" "70" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Ser)" "" "0000863206" "00005460" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Asp244=)" "" "0000863207" "00005460" "30" "957" "14" "957" "14" "c.957+14A>G" "r.(=)" "p.(=)" "" "0000863208" "00005460" "10" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Pro436=)" "" "0000863209" "00005460" "30" "1340" "-20" "1340" "-20" "c.1340-20A>C" "r.(=)" "p.(=)" "" "0000863210" "00005460" "30" "1670" "-15" "1670" "-15" "c.1670-15C>T" "r.(=)" "p.(=)" "" "0000863211" "00005460" "50" "1776" "1" "1776" "1" "c.1776+1G>A" "r.spl?" "p.?" "" "0000863212" "00005460" "30" "2553" "0" "2553" "0" "c.2553G>T" "r.(?)" "p.(Gly851=)" "" "0000863213" "00005460" "50" "3221" "0" "3221" "0" "c.3221C>G" "r.(?)" "p.(Ala1074Gly)" "" "0000863214" "00005460" "50" "3224" "0" "3224" "0" "c.3224C>T" "r.(?)" "p.(Pro1075Leu)" "" "0000863215" "00005460" "70" "3356" "0" "3356" "0" "c.3356G>T" "r.(?)" "p.(Gly1119Val)" "" "0000863216" "00005460" "30" "3454" "9" "3454" "9" "c.3454+9T>C" "r.(=)" "p.(=)" "" "0000863217" "00005460" "50" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Gly1197Ser)" "" "0000863218" "00005460" "30" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Ala1381Thr)" "" "0000863219" "00005460" "70" "4228" "0" "4228" "0" "c.4228C>T" "r.(?)" "p.(Arg1410*)" "" "0000863220" "00005460" "30" "4255" "0" "4255" "0" "c.4255A>G" "r.(?)" "p.(Met1419Val)" "" "0000863221" "00005460" "50" "4985" "0" "4985" "0" "c.4985G>A" "r.(?)" "p.(Arg1662His)" "" "0000869085" "00005460" "70" "2588" "0" "2588" "0" "c.2588G>A" "r.(?)" "p.(Gly863Asp)" "" "0000890880" "00005460" "30" "99" "4" "99" "4" "c.99+4A>G" "r.spl?" "p.?" "" "0000890881" "00005460" "30" "1190" "-17" "1190" "-17" "c.1190-17A>C" "r.(=)" "p.(=)" "" "0000890882" "00005460" "30" "1223" "0" "1223" "0" "c.1223C>G" "r.(?)" "p.(Pro408Arg)" "" "0000890883" "00005460" "70" "2069" "0" "2069" "0" "c.2069G>T" "r.(?)" "p.(Gly690Val)" "" "0000890884" "00005460" "50" "2185" "0" "2185" "0" "c.2185G>A" "r.(?)" "p.(Gly729Arg)" "" "0000890885" "00005460" "30" "3207" "17" "3207" "17" "c.3207+17T>C" "r.(=)" "p.(=)" "" "0000890886" "00005460" "30" "3234" "0" "3234" "0" "c.3234A>C" "r.(?)" "p.(Ala1078=)" "" "0000890887" "00005460" "30" "4737" "0" "4737" "0" "c.4737C>T" "r.(?)" "p.(Ala1579=)" "" "0000890888" "00005460" "50" "5104" "0" "5104" "0" "c.5104A>G" "r.(?)" "p.(Ile1702Val)" "" "0000908967" "00005460" "90" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Gly1030Ser)" "" "0000914000" "00005460" "10" "-564" "0" "-564" "0" "c.-564C>G" "r.(?)" "p.(=)" "" "0000914001" "00005460" "10" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Thr99=)" "" "0000914002" "00005460" "10" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Pro336=)" "" "0000914003" "00005460" "10" "1095" "0" "1095" "0" "c.1095G>A" "r.(?)" "p.(Pro365=)" "" "0000914004" "00005460" "10" "1179" "0" "1179" "0" "c.1179C>T" "r.(?)" "p.(Ile393=)" "" "0000914005" "00005460" "10" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Pro496=)" "" "0000914006" "00005460" "10" "1550" "0" "1550" "0" "c.1550G>A" "r.(?)" "p.(Arg517Lys)" "" "0000914007" "00005460" "10" "1776" "20" "1776" "20" "c.1776+20G>A" "r.(=)" "p.(=)" "" "0000914008" "00005460" "10" "1777" "-7" "1777" "-7" "c.1777-7C>T" "r.(=)" "p.(=)" "" "0000914009" "00005460" "50" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Gly639Ser)" "" "0000914010" "00005460" "10" "2048" "0" "2048" "0" "c.2048G>C" "r.(?)" "p.(Gly683Ala)" "" "0000914011" "00005460" "10" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Pro718Ser)" "" "0000914012" "00005460" "10" "2587" "8" "2587" "8" "c.2587+8C>T" "r.(=)" "p.(=)" "" "0000914013" "00005460" "10" "2588" "-11" "2588" "-11" "c.2588-11C>T" "r.(=)" "p.(=)" "" "0000914014" "00005460" "10" "2759" "-5" "2759" "-5" "c.2759-5T>C" "r.spl?" "p.?" "" "0000914015" "00005460" "10" "2903" "-12" "2903" "-12" "c.2903-12A>G" "r.(=)" "p.(=)" "" "0000914016" "00005460" "50" "3271" "1" "3271" "1" "c.3271+1G>A" "r.spl?" "p.?" "" "0000914017" "00005460" "10" "3272" "-20" "3272" "-20" "c.3272-20G>A" "r.(=)" "p.(=)" "" "0000914018" "00005460" "30" "3448" "0" "3448" "0" "c.3448C>A" "r.(?)" "p.(Gln1150Lys)" "" "0000914019" "00005460" "10" "3804" "0" "3804" "0" "c.3804=" "r.(=)" "p.(Pro1268=)" "" "0000914020" "00005460" "10" "3807" "0" "3807" "0" "c.3807=" "r.(=)" "p.(Gly1269=)" "" "0000914021" "00005460" "10" "4040" "-19" "4040" "-19" "c.4040-19C>T" "r.(=)" "p.(=)" "" "0000914022" "00005460" "10" "4083" "0" "4083" "0" "c.4083=" "r.(=)" "p.(Thr1361=)" "" "0000914023" "00005460" "10" "4089" "0" "4089" "0" "c.4089G>A" "r.(?)" "p.(Ala1363=)" "" "0000914024" "00005460" "10" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Val1399Ile)" "" "0000914025" "00005460" "10" "4290" "0" "4290" "0" "c.4290=" "r.(=)" "p.(Phe1430=)" "" "0000914026" "00005460" "10" "4515" "0" "4515" "0" "c.4515A>G" "r.(?)" "p.(Pro1505=)" "" "0000914027" "00005460" "10" "4617" "0" "4617" "0" "c.4617G>A" "r.(?)" "p.(Ala1539=)" "" "0000914028" "00005460" "50" "4981" "0" "4981" "0" "c.4981G>A" "r.(?)" "p.(Gly1661Ser)" "" "0000925725" "00005460" "30" "846" "0" "846" "0" "c.846G>A" "r.(?)" "p.(Gly282=)" "" "0000925726" "00005460" "10" "912" "9" "912" "9" "c.912+9C>T" "r.(=)" "p.(=)" "" "0000925727" "00005460" "10" "1340" "-20" "1340" "-20" "c.1340-20A>C" "r.(=)" "p.(=)" "" "0000925728" "00005460" "30" "2102" "0" "2102" "0" "c.2102A>G" "r.(?)" "p.(Lys701Arg)" "" "0000925729" "00005460" "10" "3455" "-5" "3455" "-5" "c.3455-5C>G" "r.spl?" "p.?" "" "0000925730" "00005460" "30" "3486" "0" "3486" "0" "c.3486G>A" "r.(?)" "p.(Ser1162=)" "" "0000925731" "00005460" "10" "3634" "4" "3634" "4" "c.3634+4C>T" "r.spl?" "p.?" "" "0000925732" "00005460" "30" "4602" "0" "4602" "0" "c.4602G>A" "r.(?)" "p.(Ala1534=)" "" "0000925733" "00005460" "50" "4619" "0" "4619" "0" "c.4619G>A" "r.(?)" "p.(Arg1540Gln)" "" "0000930175" "00005460" "50" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Gly184Ser)" "" "0000930178" "00005460" "50" "2215" "0" "2215" "0" "c.2215C>T" "r.(?)" "p.(Pro739Ser)" "" "0000930179" "00005460" "50" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(=)" "" "0000932941" "00005460" "50" "315" "1" "315" "1" "c.315+1G>C" "r.spl?" "p.?" "" "0000932942" "00005460" "50" "315" "1" "315" "1" "c.315+1G>C" "r.spl?" "p.?" "" "0000950055" "00005460" "30" "-552" "0" "-552" "0" "c.-552G>T" "r.(?)" "p.(=)" "" "0000950056" "00005460" "70" "360" "2" "360" "2" "c.360+2T>C" "r.spl?" "p.?" "" "0000950057" "00005460" "30" "2095" "14" "2095" "14" "c.2095+14G>A" "r.(=)" "p.(=)" "" "0000967149" "00005460" "50" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Gly59Arg)" "" "0000967150" "00005460" "50" "1177" "0" "1177" "0" "c.1177A>T" "r.(?)" "p.(Ile393Phe)" "" "0000967152" "00005460" "30" "2351" "0" "2351" "0" "c.2351G>A" "r.(?)" "p.(Arg784Gln)" "" "0000972084" "00005460" "70" "2849" "0" "2849" "0" "c.2849G>T" "r.(?)" "p.(Gly950Val)" "32" "0000980561" "00005460" "50" "940" "0" "940" "0" "c.940G>C" "r.(?)" "p.(Gly314Arg)" "" "0000980562" "00005460" "30" "1340" "-62" "1340" "-21" "c.1340-62_1340-21dup" "r.(=)" "p.(=)" "" "0000980563" "00005460" "50" "1645" "0" "1645" "0" "c.1645G>C" "r.(?)" "p.(Asp549His)" "" "0000980564" "00005460" "50" "2497" "0" "2497" "0" "c.2497G>T" "r.(?)" "p.(Gly833Cys)" "" "0000980565" "00005460" "30" "3087" "0" "3087" "0" "c.3087C>T" "r.(?)" "p.(=)" "" "0000980566" "00005460" "50" "4787" "0" "4787" "0" "c.4787C>T" "r.(?)" "p.(Pro1596Leu)" "" "0001000427" "00005460" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Gly288Ser)" "" "0001000428" "00005460" "50" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Pro526Leu)" "" "0001000429" "00005460" "50" "1612" "0" "1612" "0" "c.1612A>G" "r.(?)" "p.(Ile538Val)" "" "0001000430" "00005460" "30" "1740" "0" "1740" "0" "c.1740T>A" "r.(?)" "p.(Asp580Glu)" "" "0001000431" "00005460" "30" "2368" "0" "2368" "0" "c.2368C>G" "r.(?)" "p.(Pro790Ala)" "" "0001000432" "00005460" "50" "3077" "0" "3077" "0" "c.3077C>G" "r.(?)" "p.(Pro1026Arg)" "" "0001000433" "00005460" "50" "3598" "0" "3598" "0" "c.3598G>A" "r.(?)" "p.(Gly1200Ser)" "" "0001000434" "00005460" "30" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Ala1391Thr)" "" "0001000435" "00005460" "50" "4987" "0" "4987" "0" "c.4987G>A" "r.(?)" "p.(Gly1663Ser)" "" "0001007086" "00005460" "90" "546" "0" "546" "0" "c.546T>A" "r.(?)" "p.(Tyr182Ter)" "" "0001015031" "00005460" "30" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Pro403Leu)" "" "0001015033" "00005460" "30" "1822" "0" "1822" "0" "c.1822A>G" "r.(?)" "p.(Ile608Val)" "" "0001015034" "00005460" "30" "2038" "41" "2038" "41" "c.2038+41C>T" "r.(=)" "p.(=)" "" "0001015035" "00005460" "30" "2758" "45" "2758" "45" "c.2758+45G>A" "r.(=)" "p.(=)" "" "0001015036" "00005460" "70" "3293" "0" "3293" "0" "c.3293del" "r.(?)" "p.(Asn1098IlefsTer8)" "" "0001015037" "00005460" "30" "3642" "0" "3642" "0" "c.3642C>T" "r.(?)" "p.(=)" "" "0001026246" "00005460" "30" "1340" "-42" "1340" "-42" "c.1340-42G>A" "r.(=)" "p.(=)" "" "0001026247" "00005460" "50" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Ala459Thr)" "" "0001026248" "00005460" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0001026249" "00005460" "50" "1948" "0" "1948" "0" "c.1948C>T" "r.(?)" "p.(Pro650Ser)" "" "0001026250" "00005460" "70" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Gly890Glu)" "" "0001026251" "00005460" "10" "3368" "0" "3368" "0" "c.3368A>G" "r.(?)" "p.(Glu1123Gly)" "" "0001026252" "00005460" "30" "3562" "45" "3562" "45" "c.3562+45G>A" "r.(=)" "p.(=)" "" "0001026253" "00005460" "30" "4193" "0" "4193" "0" "c.4193C>A" "r.(?)" "p.(Ala1398Asp)" "" "0001026254" "00005460" "30" "4353" "0" "4353" "0" "c.4353C>T" "r.(?)" "p.(=)" "" "0001026255" "00005460" "30" "4578" "0" "4578" "0" "c.4578G>A" "r.(?)" "p.(Ala1526=)" "" "0001026256" "00005460" "50" "4646" "0" "4646" "0" "c.4646G>A" "r.(?)" "p.(Cys1549Tyr)" "" "0001030297" "00005460" "70" "4138" "0" "4138" "0" "c.4138G>A" "r.(?)" "p.(Gly1380Ser)" "" "0001030298" "00005460" "70" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Gly1380Asp)" "" "0001030881" "00005460" "70" "3877" "0" "3877" "0" "c.3877G>A" "r.(?)" "p.(Gly1293Ser)" "" "0001039569" "00005460" "30" "181" "-30" "181" "-30" "c.181-30G>A" "r.(=)" "p.(=)" "" "0001039570" "00005460" "30" "477" "34" "477" "34" "c.477+34C>T" "r.(=)" "p.(=)" "" "0001039571" "00005460" "30" "1978" "10" "1978" "10" "c.1978+10A>G" "r.(=)" "p.(=)" "" "0001039572" "00005460" "30" "2439" "0" "2439" "0" "c.2439G>A" "r.(?)" "p.(Met813Ile)" "" "0001039573" "00005460" "30" "3563" "-10" "3563" "-10" "c.3563-10A>G" "r.(=)" "p.(=)" "" "0001039574" "00005460" "30" "4441" "0" "4441" "0" "c.4441A>G" "r.(?)" "p.(Met1481Val)" "" "0001039575" "00005460" "30" "4493" "0" "4493" "0" "c.4493C>T" "r.(?)" "p.(Thr1498Met)" "" "0001039576" "00005460" "50" "4772" "0" "4772" "0" "c.4772C>G" "r.(?)" "p.(Ser1591Cys)" "" "0001039577" "00005460" "30" "5068" "0" "5068" "0" "c.5068G>A" "r.(?)" "p.(Ala1690Thr)" "" "0001046408" "00005460" "30" "-499" "0" "-499" "0" "c.-499G>A" "r.(?)" "p.(=)" "" "0001046409" "00005460" "30" "-44" "-42" "-44" "-42" "c.-44-42T>A" "r.(=)" "p.(=)" "" "0001046410" "00005460" "30" "1339" "14" "1339" "14" "c.1339+14A>G" "r.(=)" "p.(=)" "" "0001046411" "00005460" "30" "1395" "0" "1395" "0" "c.1395C>T" "r.(?)" "p.(=)" "" "0001054730" "00005460" "50" "-44" "-1" "-44" "-1" "c.-44-1G>C" "r.spl?" "p.?" "" "0001054731" "00005460" "30" "44" "4" "44" "4" "c.44+4A>G" "r.spl?" "p.?" "" "0001054732" "00005460" "30" "1328" "0" "1328" "0" "c.1328C>G" "r.(?)" "p.(Pro443Arg)" "" "0001054733" "00005460" "50" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471His)" "" "0001054734" "00005460" "30" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Ala480Thr)" "" "0001054735" "00005460" "30" "1979" "-15" "1979" "-15" "c.1979-15A>T" "r.(=)" "p.(=)" "" "0001054736" "00005460" "50" "2369" "0" "2369" "0" "c.2369C>T" "r.(?)" "p.(Pro790Leu)" "" "0001054737" "00005460" "50" "2546" "0" "2546" "0" "c.2546A>C" "r.(?)" "p.(Gln849Pro)" "" "0001054738" "00005460" "30" "2720" "0" "2720" "0" "c.2720A>C" "r.(?)" "p.(Lys907Thr)" "" "0001054739" "00005460" "30" "4403" "-24" "4419" "0" "c.4403-24_4419del" "r.spl?" "p.?" "" "0001054740" "00005460" "30" "4594" "14" "4594" "14" "c.4594+14A>C" "r.(=)" "p.(=)" "" "0001054741" "00005460" "30" "4716" "0" "4716" "0" "c.4716G>A" "r.(?)" "p.(Pro1572=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000147413" "0000240209" "0000249508" "0000578295" "0000270485" "0000604246" "0000270485" "0000604247" "0000292006" "0000648695" "0000292007" "0000648696" "0000297563" "0000660165" "0000300550" "0000663263" "0000364755" "0000765662" "0000375467" "0000786818" "0000411848" "0000869085" "0000437616" "0000932941" "0000437617" "0000932942" "0000450129" "0000972084"