### 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" "00006" "2026-03-26 10:24:48" ## 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 = 5 "{{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" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## 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 = 10 "{{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" "00473029" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam7606Pat138" "00473175" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "no" "Iran" "" "0" "" "" "" "Fam105273Pat333" "00474811" "" "" "" "1" "" "00006" "{PMID:Megarbane 2022:34602496}" "family, 1 affected" "" "" "Lebanon" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00018450" "00198" "00018844" "00198" "00218998" "05113" "00301048" "03289" "00414390" "00198" "00414480" "00198" "00473029" "05113" "00473175" "05113" "00474811" "05618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03289, 03652, 05113, 05618 ## 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/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" "" "" "" "" "" "" "" "" "" "" "0000357824" "05113" "00473029" "00006" "Unknown" "36y" "onset since 7-8y; Mild distal muscle atrophy due to neuropathy; Paresthesia in hands & left foot; Mild lower muscle weakness; Sensorimotor polyneuropathy, demyelinating type, R/O MADSAM in EMG." "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000357970" "05113" "00473175" "00006" "Unknown" "36y" "onset 1.5 year, Hand tremor; Steppage gait; Pes cavus; Difficulty walking; Lower and upper muscle weakness & atrophy due to neuropathy; Thenar & hypothenar atrophy; Foot drop; Impaired Tip-toe & heel walking; EMG-NCV: compatible with chronic axonal sensorimotor polyneuropathy, R/O CMT-2." "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000359604" "05618" "00474811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "CMTDIE" "hereditary motor and sensory neuropathies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "0000474698" "00473029" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000474844" "00473175" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000476493" "00474811" "1" "00006" "00006" "2026-03-26 10:24:36" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## 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 = 209 "{{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" "" "0001054990" "0" "50" "14" "105174101" "105174101" "subst" "0" "01804" "INF2_000172" "g.105174101C>G" "" "" "" "INF2(NM_022489.4):c.1497C>G (p.(Cys499Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066147" "0" "50" "14" "105168070" "105168070" "subst" "0" "02325" "INF2_000173" "g.105168070G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001069096" "0" "50" "14" "105172469" "105172469" "subst" "3.02269E-5" "00006" "INF2_000146" "g.105172469G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PP2, PM2" "Germline" "" "" "0" "" "" "g.104706132G>A" "SCV006074993.1" "VUS" "ACMG" "0001069242" "0" "50" "14" "105169665" "105169665" "subst" "0" "00006" "INF2_000174" "g.105169665G>A" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2-PM5-BP4" "Germline" "" "" "0" "" "" "g.104703328G>A" "SCV006074992.1" "VUS" "ACMG" "0001071344" "0" "70" "14" "105168014" "105168014" "subst" "0" "00006" "INF2_000175" "g.105168014C>G" "" "{PMID:Megarbane 2022:34602496}" "" "" "" "Germline" "" "" "0" "" "" "g.104701677C>G" "" "likely pathogenic (dominant)" "" ## 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 = 209 "{{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)" "" "0001054990" "00010029" "50" "1497" "0" "1497" "0" "c.1497C>G" "r.(?)" "p.(Cys499Trp)" "" "0001066147" "00010029" "50" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Gly123Asp)" "" "0001069096" "00010029" "50" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Asp267Asn)" "" "0001069242" "00010029" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Ile)" "" "0001071344" "00010029" "70" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Cys104Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000018434" "0000038896" "0000018828" "0000039309" "0000209858" "0000440086" "0000220070" "0000454963" "0000302170" "0000665276" "0000415670" "0000873516" "0000415760" "0000873650" "0000474698" "0001069096" "0000474844" "0001069242" "0000476493" "0001071344"