### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = INF2) # 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}}" "INF2" "inverted formin, FH2 and WH2 domain containing" "14" "q32.33" "unknown" "NG_027684.1" "UD_132085365539" "" "https://www.LOVD.nl/INF2" "" "1" "23791" "64423" "610982" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/INF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-05 12:31:14" "00000" "2025-07-08 13:22:38" ## 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}}" "00010029" "INF2" "transcript variant 1" "001" "NM_022489.3" "" "NP_071934.3" "" "" "" "-143" "4567" "3750" "105155943" "105185947" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03289" "FSGS5" "glomerulosclerosis, segmental, focal, type 5 (FSGS-5)" "" "613237" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03652" "CMTDIE" "Charcot-Marie-Tooth disease, dominant intermediate, type E (CMTDIE)" "AD" "614455" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "INF2" "03289" "INF2" "03652" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00018450" "" "" "" "1" "" "00746" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Spain" "" "0" "" "" "" "" "00018844" "" "" "" "1" "" "00746" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Spain" "" "0" "" "" "" "" "00208809" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00218998" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat8" "00301048" "" "" "" "7" "" "03641" "{PMID:Büscher 2018:29038887}" "4-generation family, 14 affected (6F, 8M)" "M" "no" "Germany" "44y" "0" "" "" "" "" "00414390" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP57" "00414480" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP147" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00018450" "00198" "00018844" "00198" "00218998" "05113" "00301048" "03289" "00414390" "00198" "00414480" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03289, 03652, 05113 ## Count = 7 "{{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}}" "0000017013" "00198" "00018844" "00746" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000017779" "00198" "00018450" "00746" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157420" "00198" "00208809" "01164" "Unknown" "" "HP:0001761 (Pes cavus); HP:0003401 (Paresthesia)" "" "" "" "" "" "" "" "" "" "" "" "0000167555" "05113" "00218998" "00006" "Unknown" "" "CMT-DIE; no family history; typical phenotype with CMT and focal segmental\r\nglomerulosclerosis" "" "" "" "" "" "" "" "" "CMTDIE" "Charcot-Marie-Tooth diseae" "" "0000228353" "03289" "00301048" "03641" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306225" "00198" "00414390" "00000" "Unknown" "1y" "Focal Segmental Glomerulosclerosis 5; Alport Syndrome; Hemolytic Uremic syndrome susceptibility to 1" "" "" "" "" "" "" "" "" "" "" "" "0000306315" "00198" "00414480" "00000" "Unknown" "30y" "Cystinuria;Focal Segmental Glomerulosclerosis 5" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000018434" "00018450" "1" "00746" "00746" "2014-07-18 17:07:21" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000018828" "00018844" "1" "00746" "00746" "2014-07-24 10:37:49" "00006" "2014-10-01 22:07:39" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "" "0000209858" "00208809" "1" "01164" "01164" "2018-12-17 10:13:44" "" "" "SEQ-NG" "DNA" "" "" "0000220070" "00218998" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000302170" "00301048" "1" "03641" "03641" "2020-05-06 14:15:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000415670" "00414390" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415760" "00414480" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000018434" "INF2" "0000018828" "INF2" "0000220070" "INF2" "0000302170" "ACTN4" "0000302170" "CD2AP" "0000302170" "COQ6" "0000302170" "INF2" "0000302170" "LAMB2" "0000302170" "NPHS1" "0000302170" "NPHS2" "0000302170" "PLCE1" "0000302170" "TRPC6" "0000302170" "WT1" "0000415670" "INF2" "0000415760" "SLC7A9" ## 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 = 204 "{{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}}" "0000038896" "21" "70" "14" "105169782" "105169782" "subst" "0" "00746" "INF2_000001" "g.105169782G>A" "" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Germline" "" "" "0" "" "" "g.104703445G>A" "" "likely pathogenic" "" "0000039309" "21" "50" "14" "105175969" "105175969" "subst" "2.03555E-5" "00746" "INF2_000002" "g.105175969C>T" "" "{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}" "" "" "" "Germline" "" "" "0" "" "" "g.104709632C>T" "" "VUS" "" "0000247235" "0" "10" "14" "105180706" "105180706" "subst" "0.608369" "02330" "INF2_000041" "g.105180706A>C" "" "" "" "INF2(NM_022489.4):c.3207A>C (p.P1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714369A>C" "" "benign" "" "0000247240" "0" "10" "14" "105177352" "105177352" "del" "0.605843" "02330" "INF2_000027" "g.105177352del" "" "" "" "INF2(NM_022489.4):c.2310+8delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104711015del" "" "benign" "" "0000247245" "0" "10" "14" "105180706" "105180706" "subst" "0.248086" "02330" "INF2_000042" "g.105180706A>G" "" "" "" "INF2(NM_022489.4):c.3207A>G (p.P1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714369A>G" "" "benign" "" "0000247261" "0" "10" "14" "105175085" "105175085" "subst" "0.10706" "02330" "INF2_000026" "g.105175085A>G" "" "" "" "INF2(NM_022489.4):c.1949+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104708748A>G" "" "benign" "" "0000248374" "0" "10" "14" "105180706" "105180706" "subst" "0.608369" "02325" "INF2_000041" "g.105180706A>C" "" "" "" "INF2(NM_022489.4):c.3207A>C (p.P1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714369A>C" "" "benign" "" "0000248448" "0" "10" "14" "105177352" "105177352" "del" "0.605843" "02325" "INF2_000027" "g.105177352del" "" "" "" "INF2(NM_022489.4):c.2310+8delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104711015del" "" "benign" "" "0000278040" "0" "10" "14" "105167807" "105167807" "subst" "0.977818" "02330" "INF2_000004" "g.105167807C>T" "" "" "" "INF2(NM_022489.3):c.105C>T (p.P35=), INF2(NM_022489.4):c.105C>T (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701470C>T" "" "benign" "" "0000278041" "0" "10" "14" "105173831" "105173831" "subst" "0.0675606" "02330" "INF2_000016" "g.105173831G>T" "" "" "" "INF2(NM_022489.3):c.1227G>T (p.S409=), INF2(NM_022489.4):c.1227G>T (p.S409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707494G>T" "" "benign" "" "0000278042" "0" "10" "14" "105173878" "105173889" "del" "0" "02330" "INF2_000018" "g.105173878_105173889del" "" "" "" "INF2(NM_022489.4):c.1274_1285delCACCCCCACCCC (p.P425_P428del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707541_104707552del" "" "benign" "" "0000278043" "0" "10" "14" "105173884" "105173889" "del" "0" "02330" "INF2_000017" "g.105173884_105173889del" "" "" "" "INF2(NM_022489.3):c.1280_1285delCACCCC (p.P427_P428del), INF2(NM_022489.4):c.1280_1285delCACCCC (p.P427_P428del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707547_104707552del" "" "benign" "" "0000278044" "0" "50" "14" "105174042" "105174042" "subst" "0" "02330" "INF2_000019" "g.105174042C>G" "" "" "" "INF2(NM_022489.4):c.1438C>G (p.L480V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707705C>G" "" "VUS" "" "0000278045" "0" "10" "14" "105174055" "105174055" "subst" "0.00396881" "02330" "INF2_000020" "g.105174055G>A" "" "" "" "INF2(NM_022489.3):c.1451G>A (p.C484Y), INF2(NM_022489.4):c.1451G>A (p.C484Y, p.(Cys484Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707718G>A" "" "benign" "" "0000278046" "0" "10" "14" "105174186" "105174186" "subst" "0.00539432" "02330" "INF2_000021" "g.105174186C>T" "" "" "" "INF2(NM_022489.3):c.1582C>T (p.P528S), INF2(NM_022489.4):c.1582C>T (p.P528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707849C>T" "" "benign" "" "0000278047" "0" "10" "14" "105174792" "105174792" "subst" "0.000298005" "02330" "INF2_000022" "g.105174792G>A" "" "" "" "INF2(NM_022489.4):c.1755G>A (p.A585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104708455G>A" "" "benign" "" "0000278048" "0" "30" "14" "105174808" "105174808" "subst" "2.0394E-5" "02330" "INF2_000023" "g.105174808G>C" "" "" "" "INF2(NM_022489.4):c.1771G>C (p.D591H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104708471G>C" "" "likely benign" "" "0000278049" "0" "50" "14" "105174821" "105174821" "subst" "0" "02330" "INF2_000024" "g.105174821T>C" "" "" "" "INF2(NM_022489.4):c.1784T>C (p.V595A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104708484T>C" "" "VUS" "" "0000278050" "0" "10" "14" "105177360" "105177360" "subst" "0" "02330" "INF2_000028" "g.105177360C>A" "" "" "" "INF2(NM_022489.4):c.2310+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104711023C>A" "" "benign" "" "0000278051" "0" "10" "14" "105177427" "105177427" "subst" "0.00645515" "02330" "INF2_000029" "g.105177427C>T" "" "" "" "INF2(NM_022489.4):c.2322C>T (p.T774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104711090C>T" "" "benign" "" "0000278052" "0" "10" "14" "105178851" "105178851" "subst" "0.00358621" "02330" "INF2_000030" "g.105178851C>T" "" "" "" "INF2(NM_022489.4):c.2571C>T (p.S857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104712514C>T" "" "benign" "" "0000278053" "0" "10" "14" "105179184" "105179184" "subst" "0.0101058" "02330" "INF2_000031" "g.105179184G>A" "" "" "" "INF2(NM_022489.3):c.2630G>A (p.R877Q), INF2(NM_022489.4):c.2630G>A (p.R877Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104712847G>A" "" "benign" "" "0000278054" "0" "10" "14" "105179194" "105179194" "subst" "0.860552" "02330" "INF2_000032" "g.105179194T>C" "" "" "" "INF2(NM_022489.4):c.2640T>C (p.D880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104712857T>C" "" "benign" "" "0000278055" "0" "10" "14" "105179344" "105179344" "subst" "0.0162436" "02330" "INF2_000033" "g.105179344C>T" "" "" "" "INF2(NM_022489.4):c.2775+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104713007C>T" "" "benign" "" "0000278056" "0" "10" "14" "105180565" "105180565" "subst" "0.786539" "02330" "INF2_000036" "g.105180565T>C" "" "" "" "INF2(NM_022489.4):c.3066T>C (p.D1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714228T>C" "" "benign" "" "0000278057" "0" "10" "14" "105180607" "105180607" "subst" "0.0047436" "02330" "INF2_000037" "g.105180607T>C" "" "" "" "INF2(NM_022489.3):c.3108T>C (p.L1036=), INF2(NM_022489.4):c.3108T>C (p.L1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714270T>C" "" "benign" "" "0000278058" "0" "50" "14" "105180633" "105180633" "subst" "0.0010251" "02330" "INF2_000038" "g.105180633G>A" "" "" "" "INF2(NM_022489.3):c.3134G>A (p.R1045Q), INF2(NM_022489.4):c.3134G>A (p.R1045Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714296G>A" "" "VUS" "" "0000278059" "0" "10" "14" "105180652" "105180652" "subst" "0.0195002" "02330" "INF2_000039" "g.105180652C>T" "" "" "" "INF2(NM_022489.3):c.3153C>T (p.D1051=), INF2(NM_022489.4):c.3153C>T (p.D1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714315C>T" "" "benign" "" "0000278060" "0" "50" "14" "105180705" "105180705" "subst" "8.78044E-5" "02330" "INF2_000040" "g.105180705C>T" "" "" "" "INF2(NM_022489.4):c.3206C>T (p.P1069L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714368C>T" "" "VUS" "" "0000278061" "0" "10" "14" "105180785" "105180785" "subst" "0.0657522" "02330" "INF2_000043" "g.105180785C>T" "" "" "" "INF2(NM_022489.4):c.3286C>T (p.P1096S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714448C>T" "" "benign" "" "0000278062" "0" "90" "14" "105168043" "105168043" "subst" "0" "02330" "INF2_000008" "g.105168043G>A" "" "" "" "INF2(NM_022489.4):c.341G>A (p.G114D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701706G>A" "" "pathogenic" "" "0000278063" "0" "10" "14" "105168110" "105168110" "subst" "0.0371395" "02330" "INF2_000010" "g.105168110G>A" "" "" "" "INF2(NM_022489.4):c.391+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701773G>A" "" "benign" "" "0000278064" "0" "10" "14" "105167744" "105167744" "subst" "0.0187257" "02330" "INF2_000003" "g.105167744G>A" "" "" "" "INF2(NM_022489.3):c.42G>A (p.L14=), INF2(NM_022489.4):c.42G>A (p.L14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701407G>A" "" "benign" "" "0000278065" "0" "30" "14" "105169760" "105169760" "subst" "1.63011E-5" "02330" "INF2_000013" "g.105169760C>T" "" "" "" "INF2(NM_022489.4):c.636C>T (p.R212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104703423C>T" "" "likely benign" "" "0000278066" "0" "10" "14" "105172529" "105172529" "subst" "0.0684807" "02330" "INF2_000014" "g.105172529C>T" "" "" "" "INF2(NM_022489.4):c.843+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104706192C>T" "" "benign" "" "0000278067" "0" "10" "14" "105173282" "105173282" "subst" "0.00774841" "02330" "INF2_000015" "g.105173282G>A" "" "" "" "INF2(NM_022489.4):c.879G>A (p.S293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104706945G>A" "" "benign" "" "0000281541" "0" "10" "14" "105167807" "105167807" "subst" "0.977818" "02325" "INF2_000004" "g.105167807C>T" "" "" "" "INF2(NM_022489.3):c.105C>T (p.P35=), INF2(NM_022489.4):c.105C>T (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701470C>T" "" "benign" "" "0000281542" "0" "10" "14" "105179194" "105179194" "subst" "0.860552" "02325" "INF2_000032" "g.105179194T>C" "" "" "" "INF2(NM_022489.4):c.2640T>C (p.D880=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104712857T>C" "" "benign" "" "0000281543" "0" "10" "14" "105180565" "105180565" "subst" "0.786539" "02325" "INF2_000036" "g.105180565T>C" "" "" "" "INF2(NM_022489.4):c.3066T>C (p.D1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714228T>C" "" "benign" "" "0000285288" "0" "10" "14" "105182306" "105182306" "subst" "0" "02326" "INF2_000045" "g.105182306C>A" "" "" "" "INF2(NM_022489.3):c.*1+629C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104715969C>A" "" "benign" "" "0000285289" "0" "10" "14" "105167807" "105167807" "subst" "0.977818" "02326" "INF2_000004" "g.105167807C>T" "" "" "" "INF2(NM_022489.3):c.105C>T (p.P35=), INF2(NM_022489.4):c.105C>T (p.P35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701470C>T" "" "benign" "" "0000285290" "0" "10" "14" "105173831" "105173831" "subst" "0.0675606" "02326" "INF2_000016" "g.105173831G>T" "" "" "" "INF2(NM_022489.3):c.1227G>T (p.S409=), INF2(NM_022489.4):c.1227G>T (p.S409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707494G>T" "" "benign" "" "0000285291" "0" "10" "14" "105174186" "105174186" "subst" "0.00539432" "02326" "INF2_000021" "g.105174186C>T" "" "" "" "INF2(NM_022489.3):c.1582C>T (p.P528S), INF2(NM_022489.4):c.1582C>T (p.P528S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104707849C>T" "" "benign" "" "0000285292" "0" "10" "14" "105174975" "105174975" "subst" "0.00286716" "02326" "INF2_000025" "g.105174975C>T" "" "" "" "INF2(NM_022489.3):c.1888-33C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104708638C>T" "" "benign" "" "0000285293" "0" "90" "14" "105167919" "105167919" "subst" "0" "02326" "INF2_000005" "g.105167919G>A" "" "" "" "INF2(NM_022489.3):c.217G>A (p.G73S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701582G>A" "" "pathogenic" "" "0000285294" "0" "90" "14" "105167919" "105167919" "subst" "0" "02326" "INF2_000006" "g.105167919G>C" "" "" "" "INF2(NM_022489.3):c.217G>C (p.G73R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701582G>C" "" "pathogenic" "" "0000285295" "0" "90" "14" "105167919" "105167919" "subst" "0" "02326" "INF2_000007" "g.105167919G>T" "" "" "" "INF2(NM_022489.3):c.217G>T (p.G73C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701582G>T" "" "pathogenic" "" "0000285296" "0" "10" "14" "105179184" "105179184" "subst" "0.0101058" "02326" "INF2_000031" "g.105179184G>A" "" "" "" "INF2(NM_022489.3):c.2630G>A (p.R877Q), INF2(NM_022489.4):c.2630G>A (p.R877Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104712847G>A" "" "benign" "" "0000285297" "0" "10" "14" "105179707" "105179707" "subst" "0" "02326" "INF2_000034" "g.105179707C>T" "" "" "" "INF2(NM_022489.3):c.2878+61C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104713370C>T" "" "benign" "" "0000285298" "0" "10" "14" "105180465" "105180465" "subst" "0" "02326" "INF2_000035" "g.105180465G>A" "" "" "" "INF2(NM_022489.3):c.3041-75G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714128G>A" "" "benign" "" "0000285299" "0" "10" "14" "105180607" "105180607" "subst" "0.0047436" "02326" "INF2_000037" "g.105180607T>C" "" "" "" "INF2(NM_022489.3):c.3108T>C (p.L1036=), INF2(NM_022489.4):c.3108T>C (p.L1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714270T>C" "" "benign" "" "0000285300" "0" "10" "14" "105180652" "105180652" "subst" "0.0195002" "02326" "INF2_000039" "g.105180652C>T" "" "" "" "INF2(NM_022489.3):c.3153C>T (p.D1051=), INF2(NM_022489.4):c.3153C>T (p.D1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714315C>T" "" "benign" "" "0000285301" "0" "30" "14" "105180977" "105180977" "subst" "0.00481293" "02326" "INF2_000044" "g.105180977G>A" "" "" "" "INF2(NM_022489.3):c.3478G>A (p.G1160S), INF2(NM_022489.4):c.3478G>A (p.G1160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714640G>A" "" "likely benign" "" "0000285302" "0" "10" "14" "105168099" "105168099" "subst" "0.0106235" "02326" "INF2_000009" "g.105168099C>T" "" "" "" "INF2(NM_022489.3):c.391+6C>T, INF2(NM_022489.4):c.391+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701762C>T" "" "benign" "" "0000285303" "0" "10" "14" "105167744" "105167744" "subst" "0.0187257" "02326" "INF2_000003" "g.105167744G>A" "" "" "" "INF2(NM_022489.3):c.42G>A (p.L14=), INF2(NM_022489.4):c.42G>A (p.L14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701407G>A" "" "benign" "" "0000285304" "0" "10" "14" "105169733" "105169733" "subst" "0.000146434" "02326" "INF2_000011" "g.105169733C>T" "" "" "" "INF2(NM_022489.3):c.609C>T (p.A203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104703396C>T" "" "benign" "" "0000285305" "0" "10" "14" "105169734" "105169734" "subst" "4.06832E-6" "02326" "INF2_000012" "g.105169734G>A" "" "" "" "INF2(NM_022489.3):c.610G>A (p.V204I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104703397G>A" "" "benign" "" "0000336949" "0" "10" "14" "105156001" "105156001" "subst" "0" "02327" "INF2_000046" "g.105156001G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104689664G>A" "" "benign" "" "0000336950" "0" "10" "14" "105156076" "105156076" "subst" "0" "02327" "INF2_000047" "g.105156076G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104689739G>A" "" "benign" "" "0000336951" "0" "10" "14" "105168099" "105168099" "subst" "0.0106235" "02327" "INF2_000009" "g.105168099C>T" "" "" "" "INF2(NM_022489.3):c.391+6C>T, INF2(NM_022489.4):c.391+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701762C>T" "" "benign" "" "0000336952" "0" "10" "14" "105172529" "105172529" "subst" "0.0684807" "02327" "INF2_000014" "g.105172529C>T" "" "" "" "INF2(NM_022489.4):c.843+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104706192C>T" "" "benign" "" "0000336954" "0" "10" "14" "105179344" "105179344" "subst" "0.0162436" "02327" "INF2_000033" "g.105179344C>T" "" "" "" "INF2(NM_022489.4):c.2775+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104713007C>T" "" "benign" "" "0000336955" "0" "10" "14" "105185567" "105185567" "subst" "0" "02327" "INF2_000055" "g.105185567G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104719230G>A" "" "benign" "" "0000336956" "0" "10" "14" "105185666" "105185666" "subst" "0" "02327" "INF2_000056" "g.105185666G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104719329G>T" "" "benign" "" "0000339257" "0" "10" "14" "105173282" "105173282" "subst" "0.00774841" "02327" "INF2_000015" "g.105173282G>A" "" "" "" "INF2(NM_022489.4):c.879G>A (p.S293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104706945G>A" "" "benign" "" "0000339258" "0" "10" "14" "105177427" "105177427" "subst" "0.00645515" "02327" "INF2_000029" "g.105177427C>T" "" "" "" "INF2(NM_022489.4):c.2322C>T (p.T774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104711090C>T" "" "benign" "" "0000339259" "0" "10" "14" "105180607" "105180607" "subst" "0.0047436" "02327" "INF2_000037" "g.105180607T>C" "" "" "" "INF2(NM_022489.3):c.3108T>C (p.L1036=), INF2(NM_022489.4):c.3108T>C (p.L1036=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714270T>C" "" "benign" "" "0000339260" "0" "10" "14" "105180706" "105180706" "subst" "0.608369" "02327" "INF2_000041" "g.105180706A>C" "" "" "" "INF2(NM_022489.4):c.3207A>C (p.P1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714369A>C" "" "benign" "" "0000342092" "0" "70" "14" "105169653" "105169653" "subst" "0" "02327" "INF2_000052" "g.105169653C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104703316C>T" "" "likely pathogenic" "" "0000343865" "0" "10" "14" "105180565" "105180565" "subst" "0.786539" "02327" "INF2_000036" "g.105180565T>C" "" "" "" "INF2(NM_022489.4):c.3066T>C (p.D1022=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714228T>C" "" "benign" "" "0000344226" "0" "90" "14" "105168012" "105168012" "subst" "0" "02327" "INF2_000050" "g.105168012T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701675T>C" "" "pathogenic" "" "0000344453" "0" "30" "14" "105176520" "105176520" "subst" "0" "02327" "INF2_000053" "g.105176520G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104710183G>T" "" "likely benign" "" "0000346811" "0" "30" "14" "105178771" "105178771" "subst" "8.16993E-6" "02327" "INF2_000054" "g.105178771A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104712434A>T" "" "likely benign" "" "0000347217" "0" "90" "14" "105167860" "105167860" "subst" "0" "02327" "INF2_000048" "g.105167860T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701523T>G" "" "pathogenic" "" "0000348087" "0" "50" "14" "105167906" "105167906" "subst" "0" "02327" "INF2_000049" "g.105167906C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104701569C>G" "" "VUS" "" "0000348129" "0" "10" "14" "105180785" "105180785" "subst" "0.0657522" "02327" "INF2_000043" "g.105180785C>T" "" "" "" "INF2(NM_022489.4):c.3286C>T (p.P1096S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104714448C>T" "" "benign" "" "0000350819" "0" "10" "14" "105175085" "105175085" "subst" "0.10706" "02327" "INF2_000026" "g.105175085A>G" "" "" "" "INF2(NM_022489.4):c.1949+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.104708748A>G" "" "benign" "" "0000440086" "0" "50" "14" "105169668" "105169668" "subst" "0" "01164" "INF2_000057" "g.105169668A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.104703331A>G" "" "VUS" "ACMG" "0000454963" "1" "70" "14" "105167702" "105181677" "dup" "0" "00006" "INF2_000058" "g.(?_105167702)_(105181677_?)dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "duplication entire gene" "ACMG pm2, pm4, pp3, pp4" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000551310" "0" "50" "14" "105167729" "105167729" "dup" "0" "02330" "INF2_000059" "g.105167729dup" "" "" "" "INF2(NM_022489.4):c.27dupC (p.K10Qfs*136)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104701392dup" "" "VUS" "" "0000551311" "0" "10" "14" "105168099" "105168099" "subst" "0.0106235" "02330" "INF2_000009" "g.105168099C>T" "" "" "" "INF2(NM_022489.3):c.391+6C>T, INF2(NM_022489.4):c.391+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104701762C>T" "" "benign" "" "0000551312" "0" "10" "14" "105168111" "105168111" "subst" "0.00681089" "02330" "INF2_000060" "g.105168111A>T" "" "" "" "INF2(NM_022489.4):c.391+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104701774A>T" "" "benign" "" "0000551313" "0" "70" "14" "105169702" "105169702" "subst" "0" "02327" "INF2_000061" "g.105169702A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104703365A>G" "" "likely pathogenic" "" "0000551314" "0" "10" "14" "105170207" "105170207" "subst" "0.000403578" "02326" "INF2_000062" "g.105170207C>T" "" "" "" "INF2(NM_022489.3):c.668-46C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104703870C>T" "" "benign" "" "0000551315" "0" "70" "14" "105170256" "105170256" "subst" "0" "02327" "INF2_000063" "g.105170256T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104703919T>G" "" "likely pathogenic" "" "0000551316" "0" "30" "14" "105172468" "105172468" "subst" "0.000106882" "02330" "INF2_000064" "g.105172468C>G" "" "" "" "INF2(NM_022489.4):c.798C>G (p.V266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104706131C>G" "" "likely benign" "" "0000551317" "0" "30" "14" "105173654" "105173654" "subst" "0" "02330" "INF2_000065" "g.105173654G>C" "" "" "" "INF2(NM_022489.4):c.1050G>C (p.P350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707317G>C" "" "likely benign" "" "0000551318" "0" "30" "14" "105173748" "105173748" "subst" "0.000538438" "02330" "INF2_000066" "g.105173748A>G" "" "" "" "INF2(NM_022489.3):c.1144A>G (p.S382G), INF2(NM_022489.4):c.1144A>G (p.S382G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707411A>G" "" "likely benign" "" "0000551319" "0" "10" "14" "105173884" "105173889" "del" "0" "02326" "INF2_000017" "g.105173884_105173889del" "" "" "" "INF2(NM_022489.3):c.1280_1285delCACCCC (p.P427_P428del), INF2(NM_022489.4):c.1280_1285delCACCCC (p.P427_P428del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707547_104707552del" "" "benign" "" "0000551320" "0" "10" "14" "105173885" "105173885" "subst" "0" "02330" "INF2_000067" "g.105173885A>C" "" "" "" "INF2(NM_001031714.4):c.1281A>C (p.P427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707548A>C" "" "benign" "" "0000551321" "0" "10" "14" "105173885" "105173890" "del" "0" "02330" "INF2_000068" "g.105173885_105173890del" "" "" "" "INF2(NM_022489.4):c.1281_1286delACCCCT (p.P428_L429del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707548_104707553del" "" "benign" "" "0000551322" "0" "30" "14" "105174056" "105174056" "subst" "0.0028022" "02330" "INF2_000069" "g.105174056T>C" "" "" "" "INF2(NM_001031714.4):c.1452T>C (p.C484=), INF2(NM_022489.4):c.1452T>C (p.C484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707719T>C" "" "likely benign" "" "0000551323" "0" "30" "14" "105174062" "105174062" "subst" "6.15016E-5" "02330" "INF2_000070" "g.105174062C>T" "" "" "" "INF2(NM_022489.4):c.1458C>T (p.F486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707725C>T" "" "likely benign" "" "0000551324" "0" "10" "14" "105174151" "105174151" "subst" "0.00179349" "02330" "INF2_000071" "g.105174151C>T" "" "" "" "INF2(NM_022489.4):c.1547C>T (p.P516L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707814C>T" "" "benign" "" "0000551325" "0" "10" "14" "105174412" "105174412" "subst" "0" "02326" "INF2_000072" "g.105174412G>A" "" "" "" "INF2(NM_022489.3):c.1735+73G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104708075G>A" "" "benign" "" "0000551326" "0" "30" "14" "105174848" "105174848" "subst" "3.66984E-5" "02326" "INF2_000073" "g.105174848G>A" "" "" "" "INF2(NM_022489.3):c.1811G>A (p.R604Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104708511G>A" "" "likely benign" "" "0000551327" "0" "30" "14" "105174849" "105174849" "subst" "4.07727E-6" "02330" "INF2_000074" "g.105174849A>T" "" "" "" "INF2(NM_022489.4):c.1812A>T (p.R604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104708512A>T" "" "likely benign" "" "0000551328" "0" "30" "14" "105175615" "105175615" "subst" "2.4518E-5" "01943" "INF2_000075" "g.105175615C>A" "" "" "" "INF2(NM_022489.3):c.1950-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104709278C>A" "" "likely benign" "" "0000551329" "0" "50" "14" "105175970" "105175970" "subst" "2.8494E-5" "02330" "INF2_000076" "g.105175970G>A" "" "" "" "INF2(NM_022489.4):c.2066G>A (p.R689Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104709633G>A" "" "VUS" "" "0000551330" "0" "30" "14" "105176473" "105176473" "subst" "0.000184063" "02330" "INF2_000077" "g.105176473C>T" "" "" "" "INF2(NM_022489.4):c.2187C>T (p.A729=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104710136C>T" "" "likely benign" "" "0000551331" "0" "30" "14" "105177287" "105177287" "subst" "0" "02330" "INF2_000078" "g.105177287C>T" "" "" "" "INF2(NM_022489.4):c.2253C>T (p.S751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104710950C>T" "" "likely benign" "" "0000551332" "0" "10" "14" "105177566" "105177566" "subst" "0.0114918" "02326" "INF2_000079" "g.105177566C>A" "" "" "" "INF2(NM_022489.3):c.2418+43C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104711229C>A" "" "benign" "" "0000551333" "0" "30" "14" "105178005" "105178005" "subst" "0.000690585" "02330" "INF2_000080" "g.105178005C>T" "" "" "" "INF2(NM_022489.4):c.2458C>T (p.R820W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104711668C>T" "" "likely benign" "" "0000551334" "0" "10" "14" "105180568" "105180568" "subst" "0.00507392" "02330" "INF2_000081" "g.105180568C>T" "" "" "" "INF2(NM_022489.4):c.3069C>T (p.P1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714231C>T" "" "benign" "" "0000551335" "0" "10" "14" "105180977" "105180977" "subst" "0.00481293" "02330" "INF2_000044" "g.105180977G>A" "" "" "" "INF2(NM_022489.3):c.3478G>A (p.G1160S), INF2(NM_022489.4):c.3478G>A (p.G1160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714640G>A" "" "benign" "" "0000551336" "0" "30" "14" "105181007" "105181007" "subst" "0" "02327" "INF2_000082" "g.105181007G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714670G>A" "" "likely benign" "" "0000551337" "0" "30" "14" "105181153" "105181153" "subst" "4.80354E-5" "02330" "INF2_000083" "g.105181153C>T" "" "" "" "INF2(NM_022489.4):c.3654C>T (p.T1218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714816C>T" "" "likely benign" "" "0000551338" "0" "50" "14" "105181172" "105181172" "subst" "2.02984E-5" "02330" "INF2_000084" "g.105181172C>G" "" "" "" "INF2(NM_022489.4):c.3673C>G (p.R1225G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714835C>G" "" "VUS" "" "0000551339" "0" "30" "14" "105181204" "105181204" "subst" "2.96454E-5" "02330" "INF2_000085" "g.105181204G>A" "" "" "" "INF2(NM_022489.4):c.3694+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714867G>A" "" "likely benign" "" "0000614725" "0" "90" "14" "105168028" "105168028" "subst" "0" "02327" "INF2_000086" "g.105168028T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104701691T>G" "" "pathogenic" "" "0000614726" "0" "30" "14" "105173288" "105173288" "subst" "9.64912E-5" "02330" "INF2_000087" "g.105173288G>A" "" "" "" "INF2(NM_022489.3):c.885G>A (p.L295=), INF2(NM_022489.4):c.885G>A (p.L295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104706951G>A" "" "likely benign" "" "0000614727" "0" "50" "14" "105173607" "105173607" "subst" "0" "02330" "INF2_000088" "g.105173607G>C" "" "" "" "INF2(NM_022489.4):c.1003G>C (p.E335Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707270G>C" "" "VUS" "" "0000614728" "0" "50" "14" "105173913" "105173913" "subst" "0" "02330" "INF2_000089" "g.105173913C>T" "" "" "" "INF2(NM_022489.4):c.1309C>T (p.P437S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707576C>T" "" "VUS" "" "0000614730" "0" "30" "14" "105179789" "105179789" "subst" "4.17011E-6" "02327" "INF2_000093" "g.105179789G>C" "" "" "" "(p.(Lys962Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104713452G>C" "" "likely benign" "" "0000614731" "0" "50" "14" "105180720" "105180720" "subst" "0.000325827" "02330" "INF2_000094" "g.105180720G>A" "" "" "" "INF2(NM_022489.4):c.3221G>A (p.R1074K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104714383G>A" "" "VUS" "" "0000623091" "0" "50" "14" "105173964" "105173964" "subst" "8.12759E-5" "02330" "INF2_000091" "g.105173964C>T" "" "" "" "INF2(NM_001031714.4):c.1360C>T (p.L454F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104707627C>T" "" "VUS" "" "0000623092" "0" "50" "14" "105177987" "105177987" "subst" "5.30868E-5" "02330" "INF2_000092" "g.105177987G>A" "" "" "" "INF2(NM_001031714.4):c.2440G>A (p.D814N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.104711650G>A" "" "VUS" "" "0000665276" "0" "70" "14" "105169540" "105169540" "subst" "0" "03641" "INF2_000095" "g.105169540G>C" "" "{PMID:Buscher 2018:29038887}" "" "" "" "Germline" "yes" "" "0" "" "" "g.104703203G>C" "" "likely pathogenic (dominant)" "" "0000679880" "0" "30" "14" "105178857" "105178857" "subst" "4.50218E-5" "02330" "INF2_000096" "g.105178857C>T" "" "" "" "INF2(NM_001031714.4):c.2577C>T (p.A859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679881" "0" "30" "14" "105180633" "105180633" "subst" "0.0010251" "01943" "INF2_000038" "g.105180633G>A" "" "" "" "INF2(NM_022489.3):c.3134G>A (p.R1045Q), INF2(NM_022489.4):c.3134G>A (p.R1045Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691578" "0" "30" "14" "105169524" "105169524" "subst" "4.47325E-5" "02326" "INF2_000097" "g.105169524C>T" "" "" "" "INF2(NM_001031714.4):c.474C>T (p.H158=), INF2(NM_022489.3):c.474C>T (p.H158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691579" "0" "50" "14" "105169540" "105169540" "subst" "0" "02330" "INF2_000098" "g.105169540G>A" "" "" "" "INF2(NM_001031714.4):c.490G>A (p.A164T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691580" "0" "30" "14" "105178005" "105178005" "subst" "0.000690585" "02325" "INF2_000080" "g.105178005C>T" "" "" "" "INF2(NM_022489.4):c.2458C>T (p.R820W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724631" "0" "30" "14" "105156092" "105156092" "subst" "0" "02326" "INF2_000099" "g.105156092C>A" "" "" "" "INF2(NM_022489.3):c.-10+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724632" "0" "30" "14" "105169564" "105169564" "subst" "0.000891193" "02330" "INF2_000100" "g.105169564G>A" "" "" "" "INF2(NM_001031714.4):c.507+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724633" "0" "30" "14" "105174055" "105174055" "subst" "0.00396881" "01943" "INF2_000020" "g.105174055G>A" "" "" "" "INF2(NM_022489.3):c.1451G>A (p.C484Y), INF2(NM_022489.4):c.1451G>A (p.C484Y, p.(Cys484Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724634" "0" "30" "14" "105174104" "105174104" "subst" "0" "01943" "INF2_000101" "g.105174104G>C" "" "" "" "INF2(NM_022489.3):c.1500G>C (p.P500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724635" "0" "30" "14" "105174197" "105174197" "subst" "8.47953E-6" "01943" "INF2_000102" "g.105174197G>A" "" "" "" "INF2(NM_022489.3):c.1593G>A (p.A531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724636" "0" "30" "14" "105174901" "105174901" "subst" "2.862E-5" "02326" "INF2_000103" "g.105174901C>T" "" "" "" "INF2(NM_022489.3):c.1864C>T (p.R622W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724637" "0" "30" "14" "105175708" "105175708" "subst" "4.07196E-5" "02330" "INF2_000104" "g.105175708C>T" "" "" "" "INF2(NM_001031714.4):c.2040C>T (p.P680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724638" "0" "30" "14" "105177404" "105177404" "subst" "8.11147E-5" "02330" "INF2_000105" "g.105177404T>C" "" "" "" "INF2(NM_001031714.4):c.2311-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724639" "0" "10" "14" "105179902" "105179902" "subst" "0.000716808" "02330" "INF2_000106" "g.105179902G>A" "" "" "" "INF2(NM_001031714.4):c.2999G>A (p.S1000N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724640" "0" "50" "14" "105180721" "105180721" "subst" "0" "02330" "INF2_000107" "g.105180721G>C" "" "" "" "INF2(NM_022489.4):c.3222G>C (p.R1074S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806258" "0" "50" "14" "105169731" "105169731" "subst" "4.06775E-6" "02326" "INF2_000110" "g.105169731G>A" "" "" "" "INF2(NM_022489.3):c.607G>A (p.A203T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806259" "0" "30" "14" "105173288" "105173288" "subst" "9.64912E-5" "02326" "INF2_000087" "g.105173288G>A" "" "" "" "INF2(NM_022489.3):c.885G>A (p.L295=), INF2(NM_022489.4):c.885G>A (p.L295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806260" "0" "30" "14" "105185125" "105185126" "del" "0" "02330" "INF2_000111" "g.105185125_105185126del" "" "" "" "INF2(NM_001031714.4):c.3695-7_3695-6delCT, INF2(NM_022489.3):c.*2-7_*2-6delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853720" "0" "50" "14" "105173825" "105173825" "subst" "0" "02330" "INF2_000113" "g.105173825A>T" "" "" "" "INF2(NM_001031714.4):c.1221A>T (p.K407N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853721" "0" "10" "14" "105174767" "105174767" "subst" "0.000340209" "02326" "INF2_000119" "g.105174767C>T" "" "" "" "INF2(NM_022489.3):c.1736-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853722" "0" "30" "14" "105175957" "105175957" "subst" "0.000195414" "02326" "INF2_000120" "g.105175957A>G" "" "" "" "INF2(NM_001031714.4):c.2053A>G (p.I685V), INF2(NM_022489.3):c.2053A>G (p.I685V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853723" "0" "10" "14" "105179345" "105179345" "subst" "0.000110446" "02326" "INF2_000121" "g.105179345G>A" "" "" "" "INF2(NM_022489.3):c.2775+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853724" "0" "30" "14" "105180601" "105180601" "subst" "0" "02326" "INF2_000123" "g.105180601C>T" "" "" "" "INF2(NM_022489.3):c.3102C>T (p.P1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863432" "0" "50" "14" "105173802" "105173802" "subst" "1.29882E-5" "02330" "INF2_000112" "g.105173802G>A" "" "" "" "INF2(NM_022489.4):c.1198G>A (p.A400T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863433" "0" "10" "14" "105173867" "105173867" "subst" "0" "02330" "INF2_000114" "g.105173867A>C" "" "" "" "INF2(NM_001031714.4):c.1263A>C (p.P421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863434" "0" "10" "14" "105173873" "105173873" "subst" "0" "02330" "INF2_000115" "g.105173873A>C" "" "" "" "INF2(NM_001031714.4):c.1269A>C (p.P423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863435" "0" "10" "14" "105173879" "105173879" "subst" "0" "02330" "INF2_000116" "g.105173879A>C" "" "" "" "INF2(NM_001031714.4):c.1275A>C (p.P425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863436" "0" "10" "14" "105173890" "105173893" "del" "0" "02330" "INF2_000117" "g.105173890_105173893del" "" "" "" "INF2(NM_001031714.4):c.1286_1289delTGCT (p.L429Pfs*128)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863437" "0" "30" "14" "105174052" "105174052" "subst" "0.000356672" "01943" "INF2_000118" "g.105174052C>T" "" "" "" "INF2(NM_022489.3):c.1448C>T (p.S483F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863438" "0" "90" "14" "105179590" "105179611" "dup" "0" "01943" "INF2_000122" "g.105179590_105179611dup" "" "" "" "INF2(NM_022489.3):c.2822_2843dupAGCAGCAGCTGGCGGAGGAGGA (p.R950Afs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000873516" "0" "70" "14" "105175646" "105175646" "subst" "0.000130249" "00000" "INF2_000125" "g.105175646C>T" "157" "{PMID:Sun 2018:30076350}" "" "INF2 (NM_022489.3):c.1978C>T(p.R660W); COL4A4 (NM_000092.4):c.3647G>C(p.G1216A); CFH(NM_000186.3):c.3566T>G(p.L1189R)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.104709309C>T" "" "likely pathogenic" "" "0000873650" "0" "70" "14" "105173976" "105173976" "subst" "0.00165104" "00000" "INF2_000124" "g.105173976C>T" "247" "{PMID:Sun 2018:30076350}" "" "SLC7A9(NM_014270.4):c.829G>A(p.V277M);INF2(NM_022489.3):c.1372C>T(p.P458S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.104707639C>T" "" "likely pathogenic" "" "0000891647" "0" "30" "14" "105167769" "105167769" "subst" "0.000178377" "02326" "INF2_000126" "g.105167769T>A" "" "" "" "INF2(NM_022489.3):c.67T>A (p.S23T), INF2(NM_022489.4):c.67T>A (p.S23T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891648" "0" "70" "14" "105167920" "105167920" "subst" "0" "02327" "INF2_000127" "g.105167920G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891649" "0" "30" "14" "105169524" "105169524" "subst" "4.47325E-5" "02330" "INF2_000097" "g.105169524C>T" "" "" "" "INF2(NM_001031714.4):c.474C>T (p.H158=), INF2(NM_022489.3):c.474C>T (p.H158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891650" "0" "30" "14" "105170241" "105170241" "subst" "8.19612E-5" "02330" "INF2_000128" "g.105170241G>A" "" "" "" "INF2(NM_001031714.4):c.668-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891651" "0" "30" "14" "105173241" "105173241" "subst" "4.79048E-5" "02326" "INF2_000129" "g.105173241G>A" "" "" "" "INF2(NM_022489.3):c.844-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891652" "0" "30" "14" "105174218" "105174218" "subst" "5.89553E-5" "02326" "INF2_000130" "g.105174218C>T" "" "" "" "INF2(NM_022489.3):c.1614C>T (p.I538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891653" "0" "10" "14" "105175608" "105175608" "subst" "0.000705583" "02330" "INF2_000131" "g.105175608C>T" "" "" "" "INF2(NM_001031714.4):c.1950-10C>T, INF2(NM_022489.3):c.1950-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891654" "0" "30" "14" "105175957" "105175957" "subst" "0.000195414" "02330" "INF2_000120" "g.105175957A>G" "" "" "" "INF2(NM_001031714.4):c.2053A>G (p.I685V), INF2(NM_022489.3):c.2053A>G (p.I685V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891655" "0" "30" "14" "105177269" "105177269" "subst" "2.47374E-5" "02326" "INF2_000132" "g.105177269T>C" "" "" "" "INF2(NM_022489.3):c.2240-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891656" "0" "30" "14" "105178875" "105178875" "subst" "1.232E-5" "02326" "INF2_000133" "g.105178875C>T" "" "" "" "INF2(NM_022489.3):c.2595C>T (p.Y865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891657" "0" "30" "14" "105179236" "105179236" "subst" "4.89113E-5" "02330" "INF2_000134" "g.105179236C>T" "" "" "" "INF2(NM_001031714.4):c.2682C>T (p.A894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891658" "0" "50" "14" "105179602" "105179602" "subst" "0" "02330" "INF2_000135" "g.105179602C>T" "" "" "" "INF2(NM_022489.4):c.2834C>T (p.A945V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891659" "0" "30" "14" "105179950" "105179950" "subst" "0" "02330" "INF2_000136" "g.105179950C>G" "" "" "" "INF2(NM_022489.4):c.3040+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891660" "0" "30" "14" "105180602" "105180602" "subst" "0.000164773" "02326" "INF2_000137" "g.105180602G>A" "" "" "" "INF2(NM_022489.3):c.3103G>A (p.G1035S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891661" "0" "30" "14" "105180975" "105180975" "subst" "0.000196583" "02326" "INF2_000138" "g.105180975G>A" "" "" "" "INF2(NM_022489.3):c.3476G>A (p.R1159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891662" "0" "30" "14" "105185146" "105185146" "subst" "0.000522974" "02330" "INF2_000139" "g.105185146C>T" "" "" "" "INF2(NM_001031714.4):c.3709C>T (p.P1237S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914138" "0" "30" "14" "105167769" "105167769" "subst" "0.000178377" "02330" "INF2_000126" "g.105167769T>A" "" "" "" "INF2(NM_022489.3):c.67T>A (p.S23T), INF2(NM_022489.4):c.67T>A (p.S23T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914139" "0" "90" "14" "105169674" "105169674" "subst" "0" "02326" "INF2_000140" "g.105169674G>A" "" "" "" "INF2(NM_022489.3):c.550G>A (p.E184K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914140" "0" "30" "14" "105169721" "105169721" "subst" "4.87995E-5" "02330" "INF2_000141" "g.105169721C>T" "" "" "" "INF2(NM_022489.4):c.597C>T (p.S199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914141" "0" "30" "14" "105173261" "105173261" "subst" "0" "02326" "INF2_000142" "g.105173261G>A" "" "" "" "INF2(NM_022489.3):c.858G>A (p.P286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914142" "0" "30" "14" "105176467" "105176467" "subst" "0.000177819" "02330" "INF2_000143" "g.105176467G>A" "" "" "" "INF2(NM_022489.4):c.2181G>A (p.A727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914143" "0" "30" "14" "105177531" "105177531" "subst" "5.30708E-5" "02326" "INF2_000144" "g.105177531G>A" "" "" "" "INF2(NM_022489.3):c.2418+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914144" "0" "50" "14" "105181082" "105181082" "subst" "8.6218E-6" "02330" "INF2_000145" "g.105181082G>A" "" "" "" "INF2(NM_022489.4):c.3583G>A (p.E1195K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925834" "0" "30" "14" "105172469" "105172469" "subst" "3.02269E-5" "02326" "INF2_000146" "g.105172469G>A" "" "" "" "INF2(NM_022489.3):c.799G>A (p.D267N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925835" "0" "30" "14" "105173748" "105173748" "subst" "0.000538438" "02326" "INF2_000066" "g.105173748A>G" "" "" "" "INF2(NM_022489.3):c.1144A>G (p.S382G), INF2(NM_022489.4):c.1144A>G (p.S382G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925836" "0" "30" "14" "105181062" "105181062" "subst" "0.00026761" "02326" "INF2_000147" "g.105181062C>T" "" "" "" "INF2(NM_022489.3):c.3563C>T (p.S1188F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930265" "0" "30" "14" "105167720" "105167720" "subst" "0" "02330" "INF2_000148" "g.105167720C>T" "" "" "" "INF2(NM_022489.4):c.18C>T (p.G6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930266" "0" "30" "14" "105167966" "105167966" "subst" "0.000302949" "02326" "INF2_000149" "g.105167966C>T" "" "" "" "INF2(NM_022489.3):c.264C>T (p.G88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930267" "0" "30" "14" "105175614" "105175614" "subst" "8.58545E-5" "02326" "INF2_000150" "g.105175614C>G" "" "" "" "INF2(NM_022489.3):c.1950-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950201" "0" "30" "14" "105169458" "105169458" "subst" "4.06861E-6" "02326" "INF2_000151" "g.105169458C>T" "" "" "" "INF2(NM_022489.3):c.408C>T (p.N136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950202" "0" "70" "14" "105169535" "105169535" "subst" "0" "02326" "INF2_000152" "g.105169535T>C" "" "" "" "INF2(NM_022489.3):c.485T>C (p.L162P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950203" "0" "10" "14" "105173653" "105173653" "subst" "0.00668133" "02330" "INF2_000153" "g.105173653C>T" "" "" "" "INF2(NM_022489.4):c.1049C>T (p.P350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950204" "0" "10" "14" "105174191" "105174191" "subst" "0.000149256" "02330" "INF2_000154" "g.105174191C>T" "" "" "" "INF2(NM_022489.4):c.1587C>T (p.P529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950205" "0" "30" "14" "105181670" "105181670" "subst" "8.52937E-5" "02330" "INF2_000155" "g.105181670C>T" "" "" "" "INF2(NM_022489.4):c.3744C>T (p.I1248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967392" "0" "50" "14" "105169710" "105169710" "subst" "4.0662E-6" "02326" "INF2_000156" "g.105169710A>T" "" "" "" "INF2(NM_022489.3):c.586A>T (p.T196S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967398" "0" "30" "14" "105174336" "105174336" "subst" "0.000363573" "02326" "INF2_000157" "g.105174336C>T" "" "" "" "INF2(NM_022489.3):c.1732C>T (p.R578C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967399" "0" "50" "14" "105174814" "105174814" "subst" "1.22337E-5" "02330" "INF2_000158" "g.105174814G>A" "" "" "" "INF2(NM_022489.4):c.1777G>A (p.E593K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967401" "0" "30" "14" "105179626" "105179626" "subst" "0" "02326" "INF2_000159" "g.105179626G>A" "" "" "" "INF2(NM_022489.3):c.2858G>A (p.R953Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967402" "0" "30" "14" "105185125" "105185126" "del" "0" "02326" "INF2_000111" "g.105185125_105185126del" "" "" "" "INF2(NM_001031714.4):c.3695-7_3695-6delCT, INF2(NM_022489.3):c.*2-7_*2-6delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980757" "0" "30" "14" "105172452" "105172452" "subst" "8.26802E-6" "02326" "INF2_000160" "g.105172452G>A" "" "" "" "INF2(NM_022489.3):c.782G>A (p.R261Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000714" "0" "30" "14" "105179213" "105179213" "subst" "2.85581E-5" "01804" "INF2_000161" "g.105179213G>A" "" "" "" "INF2(NM_022489.3):c.2659G>A (p.(Glu887Lys), p.E887K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000715" "0" "50" "14" "105179228" "105179228" "dup" "0" "01804" "INF2_000162" "g.105179228dup" "" "" "" "INF2(NM_022489.3):c.2674dupG (p.(Glu892fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000716" "0" "30" "14" "105179863" "105179863" "subst" "1.23792E-5" "01804" "INF2_000163" "g.105179863G>A" "" "" "" "INF2(NM_022489.3):c.2960G>A (p.(Arg987Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000717" "0" "30" "14" "105179950" "105179950" "subst" "8.23859E-6" "02330" "INF2_000164" "g.105179950C>T" "" "" "" "INF2(NM_022489.4):c.3040+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000718" "0" "50" "14" "105180657" "105180657" "dup" "0" "01804" "INF2_000165" "g.105180657dup" "" "" "" "INF2(NM_022489.3):c.3158dupT (p.(Thr1054fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000719" "0" "10" "14" "105180903" "105180903" "subst" "0.00600712" "02330" "INF2_000166" "g.105180903C>T" "" "" "" "INF2(NM_022489.4):c.3404C>T (p.T1135M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015111" "0" "30" "14" "105185178" "105185178" "subst" "1.24284E-5" "02330" "INF2_000167" "g.105185178G>A" "" "" "" "INF2(NM_022489.4):c.*48G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026353" "0" "90" "14" "105169777" "105169777" "subst" "0" "02326" "INF2_000168" "g.105169777G>A" "" "" "" "INF2(NM_022489.3):c.653G>A (p.R218Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026354" "0" "30" "14" "105174807" "105174807" "subst" "6.93408E-5" "02326" "INF2_000169" "g.105174807C>T" "" "" "" "INF2(NM_022489.3):c.1770C>T (p.P590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026355" "0" "30" "14" "105175608" "105175608" "subst" "0.000705583" "02326" "INF2_000131" "g.105175608C>T" "" "" "" "INF2(NM_001031714.4):c.1950-10C>T, INF2(NM_022489.3):c.1950-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039798" "0" "30" "14" "105173786" "105173786" "subst" "0" "02330" "INF2_000170" "g.105173786C>T" "" "" "" "INF2(NM_022489.4):c.1182C>T (p.C394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039799" "0" "30" "14" "105174055" "105174055" "subst" "0.00396881" "01804" "INF2_000020" "g.105174055G>A" "" "" "" "INF2(NM_022489.3):c.1451G>A (p.C484Y), INF2(NM_022489.4):c.1451G>A (p.C484Y, p.(Cys484Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039800" "0" "30" "14" "105180749" "105180749" "subst" "8.7011E-6" "02330" "INF2_000171" "g.105180749G>A" "" "" "" "INF2(NM_022489.4):c.3250G>A (p.D1084N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046460" "0" "30" "14" "105179213" "105179213" "subst" "2.85581E-5" "02326" "INF2_000161" "g.105179213G>A" "" "" "" "INF2(NM_022489.3):c.2659G>A (p.(Glu887Lys), p.E887K)" "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 INF2 ## Count = 204 "{{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}}" "0000038896" "00010029" "70" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Glu220Lys)" "4" "0000039309" "00010029" "70" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Arg689Trp)" "12" "0000247235" "00010029" "10" "3207" "0" "3207" "0" "c.3207A>C" "r.(?)" "p.(Pro1069=)" "" "0000247240" "00010029" "10" "2310" "8" "2310" "8" "c.2310+8del" "r.(=)" "p.(=)" "" "0000247245" "00010029" "10" "3207" "0" "3207" "0" "c.3207A>G" "r.(?)" "p.(Pro1069=)" "" "0000247261" "00010029" "10" "1949" "16" "1949" "16" "c.1949+16A>G" "r.(=)" "p.(=)" "" "0000248374" "00010029" "10" "3207" "0" "3207" "0" "c.3207A>C" "r.(?)" "p.(Pro1069=)" "" "0000248448" "00010029" "10" "2310" "8" "2310" "8" "c.2310+8del" "r.(=)" "p.(=)" "" "0000278040" "00010029" "10" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Pro35=)" "" "0000278041" "00010029" "10" "1227" "0" "1227" "0" "c.1227G>T" "r.(?)" "p.(Ser409=)" "" "0000278042" "00010029" "10" "1274" "0" "1285" "0" "c.1274_1285del" "r.(?)" "p.(Pro425_Pro428del)" "" "0000278043" "00010029" "10" "1280" "0" "1285" "0" "c.1280_1285del" "r.(?)" "p.(Pro427_Pro428del)" "" "0000278044" "00010029" "50" "1438" "0" "1438" "0" "c.1438C>G" "r.(?)" "p.(Leu480Val)" "" "0000278045" "00010029" "10" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Cys484Tyr)" "" "0000278046" "00010029" "10" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Pro528Ser)" "" "0000278047" "00010029" "10" "1755" "0" "1755" "0" "c.1755G>A" "r.(?)" "p.(Ala585=)" "" "0000278048" "00010029" "30" "1771" "0" "1771" "0" "c.1771G>C" "r.(?)" "p.(Asp591His)" "" "0000278049" "00010029" "50" "1784" "0" "1784" "0" "c.1784T>C" "r.(?)" "p.(Val595Ala)" "" "0000278050" "00010029" "10" "2310" "16" "2310" "16" "c.2310+16C>A" "r.(=)" "p.(=)" "" "0000278051" "00010029" "10" "2322" "0" "2322" "0" "c.2322C>T" "r.(?)" "p.(Thr774=)" "" "0000278052" "00010029" "10" "2571" "0" "2571" "0" "c.2571C>T" "r.(?)" "p.(Ser857=)" "" "0000278053" "00010029" "10" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000278054" "00010029" "10" "2640" "0" "2640" "0" "c.2640T>C" "r.(?)" "p.(Asp880=)" "" "0000278055" "00010029" "10" "2775" "15" "2775" "15" "c.2775+15C>T" "r.(=)" "p.(=)" "" "0000278056" "00010029" "10" "3066" "0" "3066" "0" "c.3066T>C" "r.(?)" "p.(Asp1022=)" "" "0000278057" "00010029" "10" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Leu1036=)" "" "0000278058" "00010029" "50" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" "0000278059" "00010029" "10" "3153" "0" "3153" "0" "c.3153C>T" "r.(?)" "p.(Asp1051=)" "" "0000278060" "00010029" "50" "3206" "0" "3206" "0" "c.3206C>T" "r.(?)" "p.(Pro1069Leu)" "" "0000278061" "00010029" "10" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(Pro1096Ser)" "" "0000278062" "00010029" "90" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Gly114Asp)" "" "0000278063" "00010029" "10" "391" "17" "391" "17" "c.391+17G>A" "r.(=)" "p.(=)" "" "0000278064" "00010029" "10" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Leu14=)" "" "0000278065" "00010029" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Arg212=)" "" "0000278066" "00010029" "10" "843" "16" "843" "16" "c.843+16C>T" "r.(=)" "p.(=)" "" "0000278067" "00010029" "10" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Ser293=)" "" "0000281541" "00010029" "10" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Pro35=)" "" "0000281542" "00010029" "10" "2640" "0" "2640" "0" "c.2640T>C" "r.(?)" "p.(Asp880=)" "" "0000281543" "00010029" "10" "3066" "0" "3066" "0" "c.3066T>C" "r.(?)" "p.(Asp1022=)" "" "0000285288" "00010029" "10" "3751" "629" "3751" "629" "c.*1+629C>A" "r.(=)" "p.(=)" "" "0000285289" "00010029" "10" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Pro35=)" "" "0000285290" "00010029" "10" "1227" "0" "1227" "0" "c.1227G>T" "r.(?)" "p.(Ser409=)" "" "0000285291" "00010029" "10" "1582" "0" "1582" "0" "c.1582C>T" "r.(?)" "p.(Pro528Ser)" "" "0000285292" "00010029" "10" "1888" "-33" "1888" "-33" "c.1888-33C>T" "r.(=)" "p.(=)" "" "0000285293" "00010029" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Gly73Ser)" "" "0000285294" "00010029" "90" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "" "0000285295" "00010029" "90" "217" "0" "217" "0" "c.217G>T" "r.(?)" "p.(Gly73Cys)" "" "0000285296" "00010029" "10" "2630" "0" "2630" "0" "c.2630G>A" "r.(?)" "p.(Arg877Gln)" "" "0000285297" "00010029" "10" "2878" "61" "2878" "61" "c.2878+61C>T" "r.(=)" "p.(=)" "" "0000285298" "00010029" "10" "3041" "-75" "3041" "-75" "c.3041-75G>A" "r.(=)" "p.(=)" "" "0000285299" "00010029" "10" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Leu1036=)" "" "0000285300" "00010029" "10" "3153" "0" "3153" "0" "c.3153C>T" "r.(?)" "p.(Asp1051=)" "" "0000285301" "00010029" "30" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Gly1160Ser)" "" "0000285302" "00010029" "10" "391" "6" "391" "6" "c.391+6C>T" "r.(=)" "p.(=)" "" "0000285303" "00010029" "10" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.(Leu14=)" "" "0000285304" "00010029" "10" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Ala203=)" "" "0000285305" "00010029" "10" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Val204Ile)" "" "0000336949" "00010029" "10" "-85" "0" "-85" "0" "c.-85G>A" "r.(?)" "p.(=)" "" "0000336950" "00010029" "10" "-10" "0" "-10" "0" "c.-10G>A" "r.(?)" "p.(=)" "" "0000336951" "00010029" "10" "391" "6" "391" "6" "c.391+6C>T" "r.(=)" "p.(=)" "" "0000336952" "00010029" "10" "843" "16" "843" "16" "c.843+16C>T" "r.(=)" "p.(=)" "" "0000336954" "00010029" "10" "2775" "15" "2775" "15" "c.2775+15C>T" "r.(=)" "p.(=)" "" "0000336955" "00010029" "10" "4187" "0" "4187" "0" "c.*437G>A" "r.(=)" "p.(=)" "" "0000336956" "00010029" "10" "4286" "0" "4286" "0" "c.*536G>T" "r.(=)" "p.(=)" "" "0000339257" "00010029" "10" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Ser293=)" "" "0000339258" "00010029" "10" "2322" "0" "2322" "0" "c.2322C>T" "r.(?)" "p.(Thr774=)" "" "0000339259" "00010029" "10" "3108" "0" "3108" "0" "c.3108T>C" "r.(?)" "p.(Leu1036=)" "" "0000339260" "00010029" "10" "3207" "0" "3207" "0" "c.3207A>C" "r.(?)" "p.(Pro1069=)" "" "0000342092" "00010029" "70" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Cys)" "" "0000343865" "00010029" "10" "3066" "0" "3066" "0" "c.3066T>C" "r.(?)" "p.(Asp1022=)" "" "0000344226" "00010029" "90" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Cys104Arg)" "" "0000344453" "00010029" "30" "2234" "0" "2234" "0" "c.2234G>T" "r.(?)" "p.(Cys745Phe)" "" "0000346811" "00010029" "30" "2491" "0" "2491" "0" "c.2491A>T" "r.(?)" "p.(Ile831Phe)" "" "0000347217" "00010029" "90" "158" "0" "158" "0" "c.158T>G" "r.(?)" "p.(Leu53Arg)" "" "0000348087" "00010029" "50" "204" "0" "204" "0" "c.204C>G" "r.(?)" "p.(Phe68Leu)" "" "0000348129" "00010029" "10" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(Pro1096Ser)" "" "0000350819" "00010029" "10" "1949" "16" "1949" "16" "c.1949+16A>G" "r.(=)" "p.(=)" "" "0000440086" "00010029" "50" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.Met182Val" "" "0000454963" "00010029" "70" "-1" "0" "3751" "0" "c.(?_-1)_(*1_?)dup" "r.=" "p.=" "" "0000551310" "00010029" "50" "27" "0" "27" "0" "c.27dup" "r.(?)" "p.(Lys10GlnfsTer136)" "" "0000551311" "00010029" "10" "391" "6" "391" "6" "c.391+6C>T" "r.(=)" "p.(=)" "" "0000551312" "00010029" "10" "391" "18" "391" "18" "c.391+18A>T" "r.(=)" "p.(=)" "" "0000551313" "00010029" "70" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Tyr193Cys)" "" "0000551314" "00010029" "10" "668" "-46" "668" "-46" "c.668-46C>T" "r.(=)" "p.(=)" "" "0000551315" "00010029" "70" "671" "0" "671" "0" "c.671T>G" "r.(?)" "p.(Leu224Arg)" "" "0000551316" "00010029" "30" "798" "0" "798" "0" "c.798C>G" "r.(?)" "p.(Val266=)" "" "0000551317" "00010029" "30" "1050" "0" "1050" "0" "c.1050G>C" "r.(?)" "p.(Pro350=)" "" "0000551318" "00010029" "30" "1144" "0" "1144" "0" "c.1144A>G" "r.(?)" "p.(Ser382Gly)" "" "0000551319" "00010029" "10" "1280" "0" "1285" "0" "c.1280_1285del" "r.(?)" "p.(Pro427_Pro428del)" "" "0000551320" "00010029" "10" "1281" "0" "1281" "0" "c.1281A>C" "r.(?)" "p.(Pro427=)" "" "0000551321" "00010029" "10" "1281" "0" "1286" "0" "c.1281_1286del" "r.(?)" "p.(Pro428_Leu429del)" "" "0000551322" "00010029" "30" "1452" "0" "1452" "0" "c.1452T>C" "r.(?)" "p.(Cys484=)" "" "0000551323" "00010029" "30" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Phe486=)" "" "0000551324" "00010029" "10" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.(Pro516Leu)" "" "0000551325" "00010029" "10" "1735" "73" "1735" "73" "c.1735+73G>A" "r.(=)" "p.(=)" "" "0000551326" "00010029" "30" "1811" "0" "1811" "0" "c.1811G>A" "r.(?)" "p.(Arg604Gln)" "" "0000551327" "00010029" "30" "1812" "0" "1812" "0" "c.1812A>T" "r.(?)" "p.(Arg604=)" "" "0000551328" "00010029" "30" "1950" "-3" "1950" "-3" "c.1950-3C>A" "r.spl?" "p.?" "" "0000551329" "00010029" "50" "2066" "0" "2066" "0" "c.2066G>A" "r.(?)" "p.(Arg689Gln)" "" "0000551330" "00010029" "30" "2187" "0" "2187" "0" "c.2187C>T" "r.(?)" "p.(Ala729=)" "" "0000551331" "00010029" "30" "2253" "0" "2253" "0" "c.2253C>T" "r.(?)" "p.(Ser751=)" "" "0000551332" "00010029" "10" "2418" "43" "2418" "43" "c.2418+43C>A" "r.(=)" "p.(=)" "" "0000551333" "00010029" "30" "2458" "0" "2458" "0" "c.2458C>T" "r.(?)" "p.(Arg820Trp)" "" "0000551334" "00010029" "10" "3069" "0" "3069" "0" "c.3069C>T" "r.(?)" "p.(Pro1023=)" "" "0000551335" "00010029" "10" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Gly1160Ser)" "" "0000551336" "00010029" "30" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Gly1170Arg)" "" "0000551337" "00010029" "30" "3654" "0" "3654" "0" "c.3654C>T" "r.(?)" "p.(Thr1218=)" "" "0000551338" "00010029" "50" "3673" "0" "3673" "0" "c.3673C>G" "r.(?)" "p.(Arg1225Gly)" "" "0000551339" "00010029" "30" "3694" "11" "3694" "11" "c.3694+11G>A" "r.(=)" "p.(=)" "" "0000614725" "00010029" "90" "326" "0" "326" "0" "c.326T>G" "r.(?)" "p.(Met109Arg)" "" "0000614726" "00010029" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Leu295=)" "" "0000614727" "00010029" "50" "1003" "0" "1003" "0" "c.1003G>C" "r.(?)" "p.(Glu335Gln)" "" "0000614728" "00010029" "50" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(Pro437Ser)" "" "0000614730" "00010029" "30" "2886" "0" "2886" "0" "c.2886G>C" "r.(?)" "p.(Lys962Asn)" "" "0000614731" "00010029" "50" "3221" "0" "3221" "0" "c.3221G>A" "r.(?)" "p.(Arg1074Lys)" "" "0000623091" "00010029" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Leu454Phe)" "" "0000623092" "00010029" "50" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Asp814Asn)" "" "0000665276" "00010029" "70" "490" "0" "490" "0" "c.490G>C" "r.(?)" "p.(Ala164Pro)" "3" "0000679880" "00010029" "30" "2577" "0" "2577" "0" "c.2577C>T" "r.(?)" "p.(Ala859=)" "" "0000679881" "00010029" "30" "3134" "0" "3134" "0" "c.3134G>A" "r.(?)" "p.(Arg1045Gln)" "" "0000691578" "00010029" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(His158=)" "" "0000691579" "00010029" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "" "0000691580" "00010029" "30" "2458" "0" "2458" "0" "c.2458C>T" "r.(?)" "p.(Arg820Trp)" "" "0000724631" "00010029" "30" "-10" "16" "-10" "16" "c.-10+16C>A" "r.(=)" "p.(=)" "" "0000724632" "00010029" "30" "507" "7" "507" "7" "c.507+7G>A" "r.(=)" "p.(=)" "" "0000724633" "00010029" "30" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Cys484Tyr)" "" "0000724634" "00010029" "30" "1500" "0" "1500" "0" "c.1500G>C" "r.(?)" "p.(Pro500=)" "" "0000724635" "00010029" "30" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Ala531=)" "" "0000724636" "00010029" "30" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Arg622Trp)" "" "0000724637" "00010029" "30" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Pro680=)" "" "0000724638" "00010029" "30" "2311" "-12" "2311" "-12" "c.2311-12T>C" "r.(=)" "p.(=)" "" "0000724639" "00010029" "10" "2999" "0" "2999" "0" "c.2999G>A" "r.(?)" "p.(Ser1000Asn)" "" "0000724640" "00010029" "50" "3222" "0" "3222" "0" "c.3222G>C" "r.(?)" "p.(Arg1074Ser)" "" "0000806258" "00010029" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Ala203Thr)" "" "0000806259" "00010029" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Leu295=)" "" "0000806260" "00010029" "30" "3752" "-7" "3752" "-6" "c.*2-7_*2-6del" "r.(=)" "p.(=)" "" "0000853720" "00010029" "50" "1221" "0" "1221" "0" "c.1221A>T" "r.(?)" "p.(Lys407Asn)" "" "0000853721" "00010029" "10" "1736" "-6" "1736" "-6" "c.1736-6C>T" "r.(=)" "p.(=)" "" "0000853722" "00010029" "30" "2053" "0" "2053" "0" "c.2053A>G" "r.(?)" "p.(Ile685Val)" "" "0000853723" "00010029" "10" "2775" "16" "2775" "16" "c.2775+16G>A" "r.(=)" "p.(=)" "" "0000853724" "00010029" "30" "3102" "0" "3102" "0" "c.3102C>T" "r.(?)" "p.(Pro1034=)" "" "0000863432" "00010029" "50" "1198" "0" "1198" "0" "c.1198G>A" "r.(?)" "p.(Ala400Thr)" "" "0000863433" "00010029" "10" "1263" "0" "1263" "0" "c.1263A>C" "r.(?)" "p.(Pro421=)" "" "0000863434" "00010029" "10" "1269" "0" "1269" "0" "c.1269A>C" "r.(?)" "p.(Pro423=)" "" "0000863435" "00010029" "10" "1275" "0" "1275" "0" "c.1275A>C" "r.(?)" "p.(Pro425=)" "" "0000863436" "00010029" "10" "1286" "0" "1289" "0" "c.1286_1289del" "r.(?)" "p.(Leu429Profs*128)" "" "0000863437" "00010029" "30" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Ser483Phe)" "" "0000863438" "00010029" "90" "2822" "0" "2843" "0" "c.2822_2843dup" "r.(?)" "p.(Arg950Alafs*37)" "" "0000873516" "00010029" "70" "1978" "0" "1978" "0" "c.1978C>T" "r.(?)" "p.(Arg660Trp)" "" "0000873650" "00010029" "70" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Pro458Ser)" "" "0000891647" "00010029" "30" "67" "0" "67" "0" "c.67T>A" "r.(?)" "p.(Ser23Thr)" "" "0000891648" "00010029" "70" "218" "0" "218" "0" "c.218G>T" "r.(?)" "p.(Gly73Val)" "" "0000891649" "00010029" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(His158=)" "" "0000891650" "00010029" "30" "668" "-12" "668" "-12" "c.668-12G>A" "r.(=)" "p.(=)" "" "0000891651" "00010029" "30" "844" "-6" "844" "-6" "c.844-6G>A" "r.(=)" "p.(=)" "" "0000891652" "00010029" "30" "1614" "0" "1614" "0" "c.1614C>T" "r.(?)" "p.(Ile538=)" "" "0000891653" "00010029" "10" "1950" "-10" "1950" "-10" "c.1950-10C>T" "r.(=)" "p.(=)" "" "0000891654" "00010029" "30" "2053" "0" "2053" "0" "c.2053A>G" "r.(?)" "p.(Ile685Val)" "" "0000891655" "00010029" "30" "2240" "-5" "2240" "-5" "c.2240-5T>C" "r.spl?" "p.?" "" "0000891656" "00010029" "30" "2595" "0" "2595" "0" "c.2595C>T" "r.(?)" "p.(Tyr865=)" "" "0000891657" "00010029" "30" "2682" "0" "2682" "0" "c.2682C>T" "r.(?)" "p.(Ala894=)" "" "0000891658" "00010029" "50" "2834" "0" "2834" "0" "c.2834C>T" "r.(?)" "p.(Ala945Val)" "" "0000891659" "00010029" "30" "3040" "7" "3040" "7" "c.3040+7C>G" "r.(=)" "p.(=)" "" "0000891660" "00010029" "30" "3103" "0" "3103" "0" "c.3103G>A" "r.(?)" "p.(Gly1035Ser)" "" "0000891661" "00010029" "30" "3476" "0" "3476" "0" "c.3476G>A" "r.(?)" "p.(Arg1159His)" "" "0000891662" "00010029" "30" "3766" "0" "3766" "0" "c.*16C>T" "r.(=)" "p.(=)" "" "0000914138" "00010029" "30" "67" "0" "67" "0" "c.67T>A" "r.(?)" "p.(Ser23Thr)" "" "0000914139" "00010029" "90" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Glu184Lys)" "" "0000914140" "00010029" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Ser199=)" "" "0000914141" "00010029" "30" "858" "0" "858" "0" "c.858G>A" "r.(?)" "p.(Pro286=)" "" "0000914142" "00010029" "30" "2181" "0" "2181" "0" "c.2181G>A" "r.(?)" "p.(Ala727=)" "" "0000914143" "00010029" "30" "2418" "8" "2418" "8" "c.2418+8G>A" "r.(=)" "p.(=)" "" "0000914144" "00010029" "50" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Glu1195Lys)" "" "0000925834" "00010029" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Asp267Asn)" "" "0000925835" "00010029" "30" "1144" "0" "1144" "0" "c.1144A>G" "r.(?)" "p.(Ser382Gly)" "" "0000925836" "00010029" "30" "3563" "0" "3563" "0" "c.3563C>T" "r.(?)" "p.(Ser1188Phe)" "" "0000930265" "00010029" "30" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(=)" "" "0000930266" "00010029" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(=)" "" "0000930267" "00010029" "30" "1950" "-4" "1950" "-4" "c.1950-4C>G" "r.spl?" "p.?" "" "0000950201" "00010029" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(=)" "" "0000950202" "00010029" "70" "485" "0" "485" "0" "c.485T>C" "r.(?)" "p.(Leu162Pro)" "" "0000950203" "00010029" "10" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Pro350Leu)" "" "0000950204" "00010029" "10" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(=)" "" "0000950205" "00010029" "30" "3744" "0" "3744" "0" "c.3744C>T" "r.(?)" "p.(=)" "" "0000967392" "00010029" "50" "586" "0" "586" "0" "c.586A>T" "r.(?)" "p.(Thr196Ser)" "" "0000967398" "00010029" "30" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578Cys)" "" "0000967399" "00010029" "50" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Glu593Lys)" "" "0000967401" "00010029" "30" "2858" "0" "2858" "0" "c.2858G>A" "r.(?)" "p.(Arg953Gln)" "" "0000967402" "00010029" "30" "3752" "-7" "3752" "-6" "c.*2-7_*2-6del" "r.(=)" "p.(=)" "" "0000980757" "00010029" "30" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0001000714" "00010029" "30" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Glu887Lys)" "" "0001000715" "00010029" "50" "2674" "0" "2674" "0" "c.2674dup" "r.(?)" "p.(Glu892Glyfs*8)" "" "0001000716" "00010029" "30" "2960" "0" "2960" "0" "c.2960G>A" "r.(?)" "p.(Arg987Gln)" "" "0001000717" "00010029" "30" "3040" "7" "3040" "7" "c.3040+7C>T" "r.(=)" "p.(=)" "" "0001000718" "00010029" "50" "3158" "0" "3158" "0" "c.3158dup" "r.(?)" "p.(Thr1054Aspfs*36)" "" "0001000719" "00010029" "10" "3404" "0" "3404" "0" "c.3404C>T" "r.(?)" "p.(Thr1135Met)" "" "0001015111" "00010029" "30" "3798" "0" "3798" "0" "c.*48G>A" "r.(=)" "p.(=)" "" "0001026353" "00010029" "90" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "" "0001026354" "00010029" "30" "1770" "0" "1770" "0" "c.1770C>T" "r.(?)" "p.(=)" "" "0001026355" "00010029" "30" "1950" "-10" "1950" "-10" "c.1950-10C>T" "r.(=)" "p.(=)" "" "0001039798" "00010029" "30" "1182" "0" "1182" "0" "c.1182C>T" "r.(?)" "p.(=)" "" "0001039799" "00010029" "30" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Cys484Tyr)" "" "0001039800" "00010029" "30" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Asp1084Asn)" "" "0001046460" "00010029" "30" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Glu887Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000018434" "0000038896" "0000018828" "0000039309" "0000209858" "0000440086" "0000220070" "0000454963" "0000302170" "0000665276" "0000415670" "0000873516" "0000415760" "0000873650"