### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CFH)
# 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}}"
"CFH" "complement factor H" "1" "q32" "unknown" "LRG_47" "UD_132118965369" "" "http://www.LOVD.nl/CFH" "" "1" "4883" "3075" "134370" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/CFH_NM_000186.3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00008" "2012-02-13 00:00:00" "00006" "2015-02-27 23:09:26" "00000" "2025-11-01 13:22:20"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000233" "CFH" "transcript variant 1" "001" "NM_000186.3" "" "NP_000177.2" "" "" "" "-240" "3887" "3696" "196621008" "196716634" "00008" "2012-06-25 11:02:21" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{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"
"00345" "CFHD" "deficiency, complement factor H (CFHD)" "AD;AR" "609814" "" "" "" "00006" "2014-03-13 09:50:57" "00006" "2021-12-10 21:51:32"
"00346" "BLD" "basal laminar drusen (BLD)" "AD" "126700" "" "" "" "00006" "2014-03-13 09:52:01" "00006" "2021-12-10 21:51:32"
"00347" "ARMD" "macular degeneration, age-related (ARMD)" "" "" "" "" "" "00006" "2014-03-13 09:53:17" "00006" "2015-12-08 23:59:30"
"00348" "ARMD4" "macular degeneration, age-related, type 4 (ARMD-4)" "" "610698" "" "" "" "00006" "2014-03-13 09:53:56" "00006" "2021-12-10 21:51:32"
"01838" "AHUS1" "hemolytic-uremic syndrome, atypical, type 1 (AHUS1)" "AD;AR" "235400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-03-10 15:25:05"
"02854" "BLAUS" "Blau syndrome (BLAUS, sarcoidosis)" "AD" "186580" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 16:26:16"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39"
"05468" "uveitis" "uveitis" "" "" "" "" "" "00006" "2018-08-22 09:47:04" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}" "{{diseaseid}}"
"CFH" "00345"
"CFH" "00346"
"CFH" "00347"
"CFH" "00348"
"CFH" "01838"
## Individuals ## Do not remove or alter this header ##
## Count = 38
"{{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}}"
"00033161" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00180380" "" "" "" "6" "" "02555" "{PMID:Allikmets 2008:19001225}" "American cohort" "F;M" "" "United States" "" "0" "{DB:Uveo3877?snp=rs3766404&t=1535790764}" "" "American" ""
"00180381" "" "" "" "30" "" "02555" "{PMID:Allikmets 2008:19001225}" "American cohort" "F;M" "" "United States" "" "0" "{DB:Uveo3876?snp=rs529825&t=1535790791}" "" "American" ""
"00180382" "" "" "" "53" "" "02555" "{PMID:Allikmets 2008:19001225}" "American cohort" "F;M" "" "United States" "" "0" "{DB:Uveo3875?snp=rs1410996&t=1535790750}" "" "American" ""
"00180383" "" "" "" "106" "" "02555" "{PMID:Allikmets 2008:19001225}" "American cohort" "F;M" "" "United States" "" "0" "{DB:Uveo3874?snp=rs1061170&t=1535790724}" "" "American" ""
"00180532" "" "" "" "40" "" "02555" "{PMID:Nussenblatt 2013:23497844}" "Finnish cohort" "F;M" "" "Finland" "" "0" "{DB:Uveo3873?snp=rs1061170&t=1535790390}" "" "Finnish" ""
"00362000" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat3AB"
"00362006" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat9AB"
"00362653" "" "" "" "1" "" "00008" "{PMID:Fuse 2006:17157600}" "" "" "" "Japan" "" "0" "" "" "Japanese" ""
"00362654" "" "" "" "1" "" "00008" "{PMID:Fuse 2006:17157600}" "" "" "" "Japan" "" "0" "" "" "Japanese" ""
"00373509" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "" "" "China" "" "0" "" "" "" "RH11"
"00373527" "" "" "" "1" "" "00000" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Canada" "" "0" "" "" "" "Pat96"
"00375425" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#019"
"00376191" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376192" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "M" "" "" "" "0" "" "" "European-Americans" ""
"00376193" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376194" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376196" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "M" "" "" "" "0" "" "" "European-Americans" ""
"00376197" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376199" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376200" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376201" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376202" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376203" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "M" "" "" "" "0" "" "" "European-Americans" ""
"00376204" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376205" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "M" "" "" "" "0" "" "" "European-Americans" ""
"00376206" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376207" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376208" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376209" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376210" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376211" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "F" "" "" "" "0" "" "" "European-Americans" ""
"00376212" "" "" "" "1" "" "00000" "{PMID:Barbazetto 2007:18161617}" "" "M" "" "" "" "0" "" "" "European-Americans" ""
"00377587" "" "" "" "6" "" "00006" "{PMID:Namburi 2020:32476814}" "4-generation family, 6 affected (6F)" "F" "" "Georgia" "" "0" "" "" "Jewish" "MOL1154"
"00414390" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP57"
"00414429" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP96"
"00414778" "" "" "" "1" "" "00000" "{PMID:Fisher 2007:17216616}" "case-control study (1662 AMD cases, 1160 controls)" "?" "" "" "" "0" "" "" "" "?"
"00451208" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072049"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 38
"{{individualid}}" "{{diseaseid}}"
"00033161" "04214"
"00180380" "05468"
"00180381" "05468"
"00180382" "05468"
"00180383" "05468"
"00180532" "02854"
"00362000" "04214"
"00362006" "04214"
"00362653" "04214"
"00362654" "04214"
"00373509" "04214"
"00373527" "04214"
"00375425" "04214"
"00376191" "04214"
"00376192" "04214"
"00376193" "04214"
"00376194" "04214"
"00376196" "04214"
"00376197" "04214"
"00376199" "04214"
"00376200" "04214"
"00376201" "04214"
"00376202" "04214"
"00376203" "04214"
"00376204" "04214"
"00376205" "04214"
"00376206" "04214"
"00376207" "04214"
"00376208" "04214"
"00376209" "04214"
"00376210" "04214"
"00376211" "04214"
"00376212" "04214"
"00377587" "04249"
"00414390" "00198"
"00414429" "00198"
"00414778" "04214"
"00451208" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00345, 00346, 00347, 00348, 01838, 02854, 04214, 04249, 05468
## Count = 37
"{{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}}"
"0000026590" "04214" "00033161" "00229" "Unknown" "1y" "lumped pigmentary retinal degeneration, early onset; ferriprive anemia" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000142775" "05468" "00180380" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Multifocal choroiditis (MFC)" "Uveitis" ""
"0000142776" "05468" "00180381" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Multifocal choroiditis (MFC)" "Uveitis" ""
"0000142777" "05468" "00180382" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Multifocal choroiditis (MFC)" "Uveitis" ""
"0000142778" "05468" "00180383" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Multifocal choroiditis (MFC)" "Uveitis" ""
"0000142927" "02854" "00180532" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Sarcoidosis " ""
"0000257393" "04214" "00362000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" ""
"0000257399" "04214" "00362006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" ""
"0000258066" "04214" "00362653" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" ""
"0000258067" "04214" "00362654" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration (AMD)" ""
"0000268785" "04214" "00373509" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" ""
"0000268803" "04214" "00373527" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt macular dystrophy" ""
"0000270639" "04214" "00375425" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271401" "04214" "00376191" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "81y" "" "" "" "" "" "" "" "" "Pseudo-Vitelliform macular detachment and Cuticular Drusen DMC/CD" ""
"0000271402" "04214" "00376192" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "76y" "" "" "" "" "" "" "" "" "Pseudo-Vitelliform macular detachment and Cuticular Drusen DMC/CD" ""
"0000271403" "04214" "00376193" "00000" "Unknown" "" "Type Drusen Cuticular and Pseudo-vitelliform detachment absent" "49y" "" "" "" "" "" "" "" "" "Pseudo-Vitelliform macular detachment and Cuticular Drusen DMC/CD" ""
"0000271404" "04214" "00376194" "00000" "Unknown" "" "Type Drusen Cuticular and Pseudo-vitelliform detachment present" "72y" "" "" "" "" "" "" "" "" "Pseudo-Vitelliform macular detachment and Cuticular Drusen DMC/CD" ""
"0000271406" "04214" "00376196" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent" "76y" "" "" "" "" "" "" "" "" "Pseudo-Vitelliform macular detachment and Cuticular Drusen DMC/CD" ""
"0000271407" "04214" "00376197" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "60y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271409" "04214" "00376199" "00000" "Unknown" "" "bilateral small pseudo-vitelliform detachments surrounded by soft and cuticular drusen" "83y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271410" "04214" "00376200" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "40y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271411" "04214" "00376201" "00000" "Unknown" "" "Type Drusen Cuticular and Pseudo-vitelliform detachment present" "65y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271412" "04214" "00376202" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "49y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271413" "04214" "00376203" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "91y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271414" "04214" "00376204" "00000" "Unknown" "" "Type Drusen Cuticular and Pseudo-vitelliform detachment present" "79y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271415" "04214" "00376205" "00000" "Unknown" "" "Type Drusen Cuticular and Pseudo-vitelliform detachment absent" "41y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271416" "04214" "00376206" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "64y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271417" "04214" "00376207" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "61y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271418" "04214" "00376208" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent" "80y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271419" "04214" "00376209" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "79y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271420" "04214" "00376210" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment present" "77y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271421" "04214" "00376211" "00000" "Unknown" "" "Type Drusen Cuticular, Soft indistinct and Pseudo-vitelliform detachment absent" "46y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000271422" "04214" "00376212" "00000" "Unknown" "" "Type Drusen Cuticular and Pseudo-vitelliform detachment present" "73y" "" "" "" "" "" "" "" "" "pseudo-vitelliform macular detachment with cuticular drusen (PVMD/CD)" ""
"0000272741" "04249" "00377587" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000306225" "00198" "00414390" "00000" "Unknown" "1y" "Focal Segmental Glomerulosclerosis 5; Alport Syndrome; Hemolytic Uremic syndrome susceptibility to 1" "" "" "" "" "" "" "" "" "" "" ""
"0000306264" "00198" "00414429" "00000" "Unknown" "1y" "Hemolytic Uremic syndrome susceptibility to 1;Hemolytic Uremic syndrome susceptibility to 2" "" "" "" "" "" "" "" "" "" "" ""
"0000306572" "04214" "00414778" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 38
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000033229" "00033161" "1" "00229" "00229" "2012-02-04 15:13:24" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000181317" "00180380" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181318" "00180381" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181319" "00180382" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181320" "00180383" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000181469" "00180532" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" ""
"0000363228" "00362000" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363234" "00362006" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000363881" "00362653" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000363882" "00362654" "1" "00008" "00008" "2021-04-22 15:23:44" "" "" "SEQ" "DNA" "blood" ""
"0000374744" "00373509" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel"
"0000374762" "00373527" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000376622" "00375425" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000377387" "00376191" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377388" "00376192" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377389" "00376193" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377390" "00376194" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377392" "00376196" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377393" "00376197" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377395" "00376199" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377396" "00376200" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377397" "00376201" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377398" "00376202" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377399" "00376203" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377400" "00376204" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377401" "00376205" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377402" "00376206" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377403" "00376207" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377404" "00376208" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377405" "00376209" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377406" "00376210" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377407" "00376211" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000377408" "00376212" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC;SEQ" "DNA" "blood" ""
"0000378791" "00377587" "1" "00006" "00006" "2021-07-28 14:44:35" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, targeted"
"0000415670" "00414390" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000415709" "00414429" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000416059" "00414778" "1" "00000" "03840" "2022-08-03 13:48:53" "" "" "SEQ;PE" "DNA" "blood" "matrix-assisted laser desorption/ionization time of flight (MALDI-TOF) mass spectrometry method"
"0000452807" "00451208" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 38
"{{screeningid}}" "{{geneid}}"
"0000033229" "AIPL1"
"0000033229" "C2orf71"
"0000033229" "CFH"
"0000033229" "NRL"
"0000181317" "CFH"
"0000181318" "CFH"
"0000181319" "CFH"
"0000181320" "CFH"
"0000181469" "CFH"
"0000363881" "CFH"
"0000363881" "HMCN1"
"0000363882" "CFH"
"0000363882" "HMCN1"
"0000374744" "ALMS1"
"0000374762" "CFH"
"0000377387" "CFH"
"0000377388" "CFH"
"0000377389" "CFH"
"0000377390" "CFH"
"0000377392" "CFH"
"0000377393" "CFH"
"0000377395" "CFH"
"0000377396" "CFH"
"0000377397" "CFH"
"0000377398" "CFH"
"0000377399" "CFH"
"0000377400" "CFH"
"0000377401" "CFH"
"0000377402" "CFH"
"0000377403" "CFH"
"0000377404" "CFH"
"0000377405" "CFH"
"0000377406" "CFH"
"0000377407" "CFH"
"0000377408" "CFH"
"0000415670" "INF2"
"0000415709" "CFH"
"0000416059" "CFH"
## 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 = 298
"{{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}}"
"0000059781" "1" "10" "1" "196706677" "196706677" "subst" "0.0163555" "00229" "CFH_000001" "g.196706677G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.196737547G>T" "" "benign" ""
"0000059782" "2" "10" "1" "196711067" "196711067" "subst" "0.0214647" "00229" "CFH_000002" "g.196711067G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.196741937G>T" "" "benign" ""
"0000245526" "0" "30" "1" "196682965" "196682965" "subst" "4.88826E-5" "02330" "CFH_000019" "g.196682965A>G" "" "" "" "CFH(NM_000186.4):c.1437A>G (p.L479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196713835A>G" "" "likely benign" ""
"0000245540" "0" "30" "1" "196654377" "196654377" "subst" "0" "02330" "CFH_000014" "g.196654377A>G" "" "" "" "CFH(NM_000186.4):c.964+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196685247A>G" "" "likely benign" ""
"0000248185" "0" "10" "1" "196654324" "196654324" "subst" "0.675274" "02325" "CFH_000013" "g.196654324A>C" "" "" "" "CFH(NM_000186.3):c.921A>C (p.A307=), CFH(NM_000186.4):c.921A>C (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196685194A>C" "" "benign" ""
"0000250888" "0" "10" "1" "196654324" "196654324" "subst" "0.675274" "02326" "CFH_000013" "g.196654324A>C" "" "" "" "CFH(NM_000186.3):c.921A>C (p.A307=), CFH(NM_000186.4):c.921A>C (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196685194A>C" "" "benign" ""
"0000251127" "0" "10" "1" "196712596" "196712596" "subst" "0.0143016" "02326" "CFH_000044" "g.196712596A>T" "" "" "" "CFH(NM_000186.3):c.3148A>T (p.N1050Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743466A>T" "" "benign" ""
"0000253542" "0" "10" "1" "196706645" "196706645" "subst" "0.00138326" "01943" "CFH_000031" "g.196706645A>G" "" "" "" "CFH(NM_000186.3):c.2637A>G (p.G879=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196737515A>G" "" "benign" ""
"0000256468" "0" "50" "1" "196694253" "196694253" "subst" "4.10243E-6" "01943" "CFH_000023" "g.196694253A>G" "" "" "" "CFH(NM_000186.3):c.1699A>G (p.R567G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196725123A>G" "" "VUS" ""
"0000264620" "0" "10" "1" "196658763" "196658763" "subst" "0.0018223" "02330" "CFH_000016" "g.196658763T>G" "" "" "" "CFH(NM_000186.3):c.1159+19T>G, CFH(NM_000186.4):c.1159+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196689633T>G" "" "benign" ""
"0000264621" "0" "10" "1" "196682853" "196682853" "subst" "0" "02330" "CFH_000018" "g.196682853C>T" "" "" "" "CFH(NM_000186.4):c.1337-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196713723C>T" "" "benign" ""
"0000264622" "0" "30" "1" "196684731" "196684731" "subst" "4.07544E-6" "02330" "CFH_000020" "g.196684731G>T" "" "" "" "CFH(NM_000186.4):c.1528G>T (p.D510Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196715601G>T" "" "likely benign" ""
"0000264623" "0" "30" "1" "196695911" "196695911" "subst" "0.000134154" "02330" "CFH_000026" "g.196695911G>A" "" "" "" "CFH(NM_000186.3):c.2077G>A (p.D693N), CFH(NM_000186.4):c.2077G>A (p.D693N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196726781G>A" "" "likely benign" ""
"0000264627" "0" "10" "1" "196642979" "196642979" "subst" "0" "02330" "CFH_000006" "g.196642979C>T" "" "" "" "CFH(NM_000186.3):c.245-8C>T, CFH(NM_000186.4):c.245-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673849C>T" "" "benign" ""
"0000264628" "0" "10" "1" "196709746" "196709746" "del" "0" "02330" "CFH_000032" "g.196709746del" "" "" "" "CFH(NM_000186.3):c.2783-3delT, CFH(NM_000186.4):c.2783-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196740616del" "" "benign" ""
"0000264629" "0" "10" "1" "196711098" "196711098" "subst" "0.000966741" "02330" "CFH_000038" "g.196711098C>T" "" "" "" "CFH(NM_000186.3):c.3050C>T (p.T1017I), CFH(NM_000186.4):c.3050C>T (p.T1017I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196741968C>T" "" "benign" ""
"0000264630" "0" "10" "1" "196711150" "196711150" "subst" "0.0016812" "02330" "CFH_000039" "g.196711150T>C" "" "" "" "CFH(NM_000186.3):c.3102T>C (p.N1034=), CFH(NM_000186.4):c.3102T>C (p.N1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196742020T>C" "" "benign" ""
"0000264631" "0" "10" "1" "196711189" "196711189" "subst" "0.00104008" "02330" "CFH_000040" "g.196711189G>T" "" "" "" "CFH(NM_000186.4):c.3133+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196742059G>T" "" "benign" ""
"0000264632" "0" "10" "1" "196712573" "196712573" "del" "0" "02330" "CFH_000041" "g.196712573del" "" "" "" "CFH(NM_000186.4):c.3134-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743443del" "" "benign" ""
"0000264633" "0" "10" "1" "196712598" "196712598" "subst" "0" "02330" "CFH_000045" "g.196712598T>C" "" "" "" "CFH(NM_000186.3):c.3150T>C (p.N1050=), CFH(NM_000186.4):c.3150T>C (p.N1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743468T>C" "" "benign" ""
"0000264634" "0" "10" "1" "196712655" "196712655" "subst" "0.000974825" "02330" "CFH_000047" "g.196712655T>C" "" "" "" "CFH(NM_000186.3):c.3207T>C (p.S1069=), CFH(NM_000186.4):c.3207T>C (p.S1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743525T>C" "" "benign" ""
"0000264635" "0" "30" "1" "196716372" "196716372" "subst" "4.06497E-6" "02330" "CFH_000048" "g.196716372T>A" "" "" "" "CFH(NM_000186.3):c.3625T>A (p.S1209T), CFH(NM_000186.4):c.3625T>A (p.S1209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196747242T>A" "" "likely benign" ""
"0000264636" "0" "10" "1" "196646592" "196646592" "subst" "0.00172871" "02330" "CFH_000009" "g.196646592T>C" "" "" "" "CFH(NM_000186.3):c.428-14T>C, CFH(NM_000186.4):c.428-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196677462T>C" "" "benign" ""
"0000264637" "0" "50" "1" "196646659" "196646659" "subst" "7.72816E-5" "02330" "CFH_000010" "g.196646659G>T" "" "" "" "CFH(NM_000186.3):c.481G>T (p.A161S, p.(Ala161Ser)), CFH(NM_000186.4):c.481G>T (p.A161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196677529G>T" "" "VUS" ""
"0000264638" "0" "10" "1" "196646760" "196646760" "subst" "2.85204E-5" "02330" "CFH_000011" "g.196646760C>T" "" "" "" "CFH(NM_000186.3):c.582C>T (p.D194=), CFH(NM_000186.4):c.582C>T (p.D194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196677630C>T" "" "benign" ""
"0000266693" "0" "10" "1" "196712577" "196712577" "subst" "0" "02325" "CFH_000042" "g.196712577T>C" "" "" "" "CFH(NM_000186.3):c.3134-5T>C (p.?), CFH(NM_000186.4):c.3134-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743447T>C" "" "benign" ""
"0000266694" "0" "10" "1" "196712586" "196712586" "subst" "0" "02325" "CFH_000043" "g.196712586C>T" "" "" "" "CFH(NM_000186.3):c.3138C>T (p.T1046=), CFH(NM_000186.4):c.3138C>T (p.T1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743456C>T" "" "benign" ""
"0000270026" "0" "10" "1" "196684855" "196684855" "subst" "0.00387272" "02326" "CFH_000021" "g.196684855T>C" "" "" "" "CFH(NM_000186.3):c.1652T>C (p.I551T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196715725T>C" "" "benign" ""
"0000270027" "0" "10" "1" "196642349" "196642349" "subst" "0" "02326" "CFH_000003" "g.196642349G>A" "" "" "" "CFH(NM_000186.3):c.244+56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673219G>A" "" "benign" ""
"0000270029" "0" "30" "1" "196642980" "196642980" "subst" "0.0146388" "02326" "CFH_000007" "g.196642980G>A" "" "" "" "CFH(NM_000186.3):c.245-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673850G>A" "" "likely benign" ""
"0000270030" "0" "10" "1" "196706029" "196706029" "subst" "0" "02326" "CFH_000027" "g.196706029G>A" "" "" "" "CFH(NM_000186.3):c.2489G>A (p.R830Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196736899G>A" "" "benign" ""
"0000270031" "0" "10" "1" "196706200" "196706200" "subst" "0" "02326" "CFH_000029" "g.196706200C>T" "" "" "" "CFH(NM_000186.3):c.2596+64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196737070C>T" "" "benign" ""
"0000270032" "0" "10" "1" "196706642" "196706642" "subst" "0.0105082" "02326" "CFH_000030" "g.196706642C>T" "" "" "" "CFH(NM_000186.3):c.2634C>T (p.H878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196737512C>T" "" "benign" ""
"0000270033" "0" "30" "1" "196706677" "196706677" "subst" "0.0163555" "02326" "CFH_000001" "g.196706677G>T" "" "" "" "CFH(NM_000186.3):c.2669G>T (p.S890I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196737547G>T" "" "likely benign" ""
"0000270034" "0" "30" "1" "196709746" "196709746" "del" "0" "02326" "CFH_000032" "g.196709746del" "" "" "" "CFH(NM_000186.3):c.2783-3delT, CFH(NM_000186.4):c.2783-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196740616del" "" "likely benign" ""
"0000270035" "0" "30" "1" "196709749" "196709749" "subst" "0" "02326" "CFH_000033" "g.196709749G>C" "" "" "" "CFH(NM_000186.3):c.2783G>C (p.G928A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196740619G>C" "" "likely benign" ""
"0000270036" "0" "30" "1" "196709754" "196709754" "subst" "0" "02326" "CFH_000034" "g.196709754C>T" "" "" "" "CFH(NM_000186.3):c.2788C>T (p.P930S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196740624C>T" "" "likely benign" ""
"0000270038" "0" "30" "1" "196709816" "196709816" "subst" "0.00389137" "02326" "CFH_000036" "g.196709816G>T" "" "" "" "CFH(NM_000186.3):c.2850G>T (p.Q950H), CFH(NM_000186.4):c.2850G>T (p.Q950H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196740686G>T" "" "likely benign" ""
"0000270039" "0" "30" "1" "196711067" "196711067" "subst" "0.0214647" "02326" "CFH_000002" "g.196711067G>T" "" "" "" "CFH(NM_000186.3):c.3019G>T (p.V1007L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196741937G>T" "" "likely benign" ""
"0000270040" "0" "10" "1" "196712577" "196712577" "subst" "0" "02326" "CFH_000042" "g.196712577T>C" "" "" "" "CFH(NM_000186.3):c.3134-5T>C (p.?), CFH(NM_000186.4):c.3134-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743447T>C" "" "benign" ""
"0000270041" "0" "10" "1" "196712586" "196712586" "subst" "0" "02326" "CFH_000043" "g.196712586C>T" "" "" "" "CFH(NM_000186.3):c.3138C>T (p.T1046=), CFH(NM_000186.4):c.3138C>T (p.T1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743456C>T" "" "benign" ""
"0000270042" "0" "10" "1" "196712624" "196712624" "subst" "0.0051744" "02326" "CFH_000046" "g.196712624T>C" "" "" "" "CFH(NM_000186.3):c.3176T>C (p.I1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743494T>C" "" "benign" ""
"0000270043" "0" "30" "1" "196646592" "196646592" "subst" "0.00172871" "02326" "CFH_000009" "g.196646592T>C" "" "" "" "CFH(NM_000186.3):c.428-14T>C, CFH(NM_000186.4):c.428-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196677462T>C" "" "likely benign" ""
"0000270044" "0" "30" "1" "196658540" "196658540" "subst" "0" "02326" "CFH_000015" "g.196658540T>A" "" "" "" "CFH(NM_000186.3):c.965-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196689410T>A" "" "likely benign" ""
"0000273278" "0" "30" "1" "196659308" "196659308" "subst" "0.000101769" "01943" "CFH_000017" "g.196659308G>A" "" "" "" "CFH(NM_000186.3):c.1275G>A (p.A425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196690178G>A" "" "likely benign" ""
"0000273279" "0" "30" "1" "196684909" "196684909" "subst" "4.37311E-6" "01943" "CFH_000022" "g.196684909G>C" "" "" "" "CFH(NM_000186.3):c.1696+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196715779G>C" "" "likely benign" ""
"0000273280" "0" "10" "1" "196695661" "196695661" "subst" "0.00138353" "01943" "CFH_000024" "g.196695661G>T" "" "" "" "CFH(NM_000186.3):c.1935G>T (p.T645=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196726531G>T" "" "benign" ""
"0000273281" "0" "30" "1" "196706049" "196706049" "subst" "0.00136946" "01943" "CFH_000028" "g.196706049G>A" "" "" "" "CFH(NM_000186.3):c.2509G>A (p.V837I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196736919G>A" "" "likely benign" ""
"0000273282" "0" "30" "1" "196643027" "196643027" "subst" "0.000390168" "01943" "CFH_000008" "g.196643027T>C" "" "" "" "CFH(NM_000186.3):c.285T>C (p.T95=), CFH(NM_000186.4):c.285T>C (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673897T>C" "" "likely benign" ""
"0000273283" "0" "30" "1" "196709833" "196709833" "subst" "0.0013201" "01943" "CFH_000037" "g.196709833C>T" "" "" "" "CFH(NM_000186.3):c.2867C>T (p.T956M), CFH(NM_000186.4):c.2867C>T (p.T956M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196740703C>T" "" "likely benign" ""
"0000273284" "0" "10" "1" "196711098" "196711098" "subst" "0.000966741" "01943" "CFH_000038" "g.196711098C>T" "" "" "" "CFH(NM_000186.3):c.3050C>T (p.T1017I), CFH(NM_000186.4):c.3050C>T (p.T1017I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196741968C>T" "" "benign" ""
"0000273285" "0" "10" "1" "196712577" "196712577" "subst" "0" "01943" "CFH_000042" "g.196712577T>C" "" "" "" "CFH(NM_000186.3):c.3134-5T>C (p.?), CFH(NM_000186.4):c.3134-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743447T>C" "" "benign" ""
"0000273286" "0" "10" "1" "196712586" "196712586" "subst" "0" "01943" "CFH_000043" "g.196712586C>T" "" "" "" "CFH(NM_000186.3):c.3138C>T (p.T1046=), CFH(NM_000186.4):c.3138C>T (p.T1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743456C>T" "" "benign" ""
"0000273287" "0" "10" "1" "196712598" "196712598" "subst" "0" "01943" "CFH_000045" "g.196712598T>C" "" "" "" "CFH(NM_000186.3):c.3150T>C (p.N1050=), CFH(NM_000186.4):c.3150T>C (p.N1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743468T>C" "" "benign" ""
"0000273288" "0" "30" "1" "196712655" "196712655" "subst" "0.000974825" "01943" "CFH_000047" "g.196712655T>C" "" "" "" "CFH(NM_000186.3):c.3207T>C (p.S1069=), CFH(NM_000186.4):c.3207T>C (p.S1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743525T>C" "" "likely benign" ""
"0000273289" "0" "30" "1" "196646781" "196646781" "subst" "0" "01943" "CFH_000012" "g.196646781G>A" "" "" "" "CFH(NM_000186.3):c.603G>A (p.E201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196677651G>A" "" "likely benign" ""
"0000337417" "0" "30" "1" "196642982" "196642982" "subst" "4.06478E-6" "02327" "CFH_000053" "g.196642982T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673852T>C" "" "likely benign" ""
"0000337418" "0" "30" "1" "196646592" "196646592" "subst" "0.00172871" "02327" "CFH_000009" "g.196646592T>C" "" "" "" "CFH(NM_000186.3):c.428-14T>C, CFH(NM_000186.4):c.428-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196677462T>C" "" "likely benign" ""
"0000337419" "0" "10" "1" "196659178" "196659178" "subst" "0.00825354" "02327" "CFH_000056" "g.196659178T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196690048T>C" "" "benign" ""
"0000339594" "0" "10" "1" "196654324" "196654324" "subst" "0.675274" "02327" "CFH_000013" "g.196654324A>C" "" "" "" "CFH(NM_000186.3):c.921A>C (p.A307=), CFH(NM_000186.4):c.921A>C (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196685194A>C" "" "benign" ""
"0000339595" "0" "10" "1" "196682947" "196682947" "subst" "0.443851" "02327" "CFH_000058" "g.196682947G>A" "" "" "" "CFH(NM_000186.3):c.1419G>A (p.A473=), CFH(NM_000186.4):c.1419G>A (p.A473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196713817G>A" "" "benign" ""
"0000341701" "0" "30" "1" "196712682" "196712682" "subst" "6.90456E-5" "02327" "CFH_000059" "g.196712682G>T" "" "" "" "CFH(NM_000186.3):c.3234G>T (p.R1078S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743552G>T" "" "likely benign" ""
"0000343115" "0" "50" "1" "196694253" "196694253" "subst" "4.10243E-6" "02327" "CFH_000023" "g.196694253A>G" "" "" "" "CFH(NM_000186.3):c.1699A>G (p.R567G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196725123A>G" "" "VUS" ""
"0000343552" "0" "10" "1" "196712596" "196712596" "subst" "0.0143016" "02327" "CFH_000044" "g.196712596A>T" "" "" "" "CFH(NM_000186.3):c.3148A>T (p.N1050Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743466A>T" "" "benign" ""
"0000344316" "0" "70" "1" "196642110" "196642110" "subst" "0" "02327" "CFH_000049" "g.196642110T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196672980T>A" "" "likely pathogenic" ""
"0000344800" "0" "90" "1" "196658711" "196658711" "subst" "0" "02327" "CFH_000055" "g.196658711C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196689581C>T" "" "pathogenic" ""
"0000346749" "0" "30" "1" "196642194" "196642194" "subst" "1.62721E-5" "02327" "CFH_000050" "g.196642194A>G" "" "" "" "CFH(NM_000186.3):c.145A>G (p.I49V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673064A>G" "" "likely benign" ""
"0000349199" "0" "30" "1" "196706677" "196706677" "subst" "0.0163555" "02327" "CFH_000001" "g.196706677G>T" "" "" "" "CFH(NM_000186.3):c.2669G>T (p.S890I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196737547G>T" "" "likely benign" ""
"0000349878" "0" "50" "1" "196712690" "196712690" "subst" "0" "02327" "CFH_000060" "g.196712690A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196743560A>G" "" "VUS" ""
"0000350228" "0" "30" "1" "196711067" "196711067" "subst" "0.0214647" "02327" "CFH_000002" "g.196711067G>T" "" "" "" "CFH(NM_000186.3):c.3019G>T (p.V1007L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196741937G>T" "" "likely benign" ""
"0000350614" "0" "10" "1" "196642233" "196642233" "subst" "0.316073" "02327" "CFH_000051" "g.196642233G>A" "" "" "" "CFH(NM_000186.3):c.184G>A (p.V62I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673103G>A" "" "benign" ""
"0000350997" "0" "70" "1" "196620917" "196620917" "subst" "0" "02327" "CFH_000065" "g.196620917C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196651787C>T" "" "likely pathogenic" ""
"0000350999" "0" "10" "1" "196642980" "196642980" "subst" "0.0146388" "02327" "CFH_000007" "g.196642980G>A" "" "" "" "CFH(NM_000186.3):c.245-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.196673850G>A" "" "benign" ""
"0000405013" "0" "50" "1" "196651832" "196651832" "subst" "0" "02555" "CFH_000063" "g.196651832T>C" "6/192 cases" "{PMID:Allikmets 2008:19001225}" "" "" "{DB:Uveo3877?snp=rs3766404&t=1535790764}" "Germline" "" "rs3766404" "0" "" "" "g.196682702T>C" "" "VUS" ""
"0000405014" "0" "50" "1" "196635106" "196635106" "subst" "0" "02555" "CFH_000062" "g.196635106G>A" "30/192 cases" "{PMID:Allikmets 2008:19001225}" "" "" "{DB:Uveo3876?snp=rs529825&t=1535790791}" "Germline" "" "rs529825" "0" "" "" "g.196665976G>A" "" "VUS" ""
"0000405015" "0" "50" "1" "196696933" "196696933" "subst" "0" "02555" "CFH_000064" "g.196696933G>A" "53/192 cases" "{PMID:Allikmets 2008:19001225}" "" "" "{DB:Uveo3875?snp=rs1410996&t=1535790750}" "Germline" "" "rs1410996" "0" "" "" "g.196727803G>A" "" "VUS" ""
"0000405016" "0" "50" "1" "196659237" "196659237" "subst" "0.678669" "02555" "CFH_000057" "g.196659237C>T" "106/192 cases" "{PMID:Allikmets 2008:19001225}" "" "" "{DB:Uveo3874?snp=rs1061170&t=1535790724}" "Germline" "" "rs1061170" "0" "" "" "g.196690107C>T" "" "VUS" ""
"0000405165" "0" "50" "1" "196659237" "196659237" "subst" "0.678669" "02555" "CFH_000057" "g.196659237C>T" "40/82 cases" "{PMID:Nussenblatt 2013:23497844}" "" "" "{DB:Uveo3873?snp=rs1061170&t=1535790390}" "Germline" "" "rs1061170" "0" "" "" "g.196690107C>T" "" "VUS" ""
"0000504501" "0" "30" "1" "196642188" "196642188" "subst" "0" "01943" "CFH_000066" "g.196642188C>A" "" "" "" "CFH(NM_000186.3):c.139C>A (p.Q47K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673058C>A" "" "likely benign" ""
"0000504502" "0" "50" "1" "196642221" "196642221" "subst" "0.000268732" "01943" "CFH_000067" "g.196642221T>G" "" "" "" "CFH(NM_000186.3):c.172T>G (p.S58A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673091T>G" "" "VUS" ""
"0000504505" "0" "10" "1" "196642233" "196642233" "subst" "0.316073" "02326" "CFH_000051" "g.196642233G>A" "" "" "" "CFH(NM_000186.3):c.184G>A (p.V62I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673103G>A" "" "benign" ""
"0000504506" "0" "30" "1" "196642976" "196642978" "dup" "0" "02330" "CFH_000068" "g.196642976_196642978dup" "" "" "" "CFH(NM_000186.4):c.245-11_245-9dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673846_196673848dup" "" "likely benign" ""
"0000504507" "0" "10" "1" "196642977" "196642978" "dup" "0" "02330" "CFH_000052" "g.196642977_196642978dup" "" "" "" "CFH(NM_000186.3):c.245-10_245-9dupTT (p.?), CFH(NM_000186.3):c.245-11_245-10dupTT, CFH(NM_000186.4):c.245-10_245-9dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673847_196673848dup" "" "benign" ""
"0000504508" "0" "10" "1" "196642977" "196642978" "dup" "0" "02326" "CFH_000052" "g.196642977_196642978dup" "" "" "" "CFH(NM_000186.3):c.245-10_245-9dupTT (p.?), CFH(NM_000186.3):c.245-11_245-10dupTT, CFH(NM_000186.4):c.245-10_245-9dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673847_196673848dup" "" "benign" ""
"0000504509" "0" "30" "1" "196642979" "196642979" "subst" "0" "01943" "CFH_000006" "g.196642979C>T" "" "" "" "CFH(NM_000186.3):c.245-8C>T, CFH(NM_000186.4):c.245-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673849C>T" "" "likely benign" ""
"0000504510" "0" "30" "1" "196642979" "196642979" "subst" "0" "02326" "CFH_000006" "g.196642979C>T" "" "" "" "CFH(NM_000186.3):c.245-8C>T, CFH(NM_000186.4):c.245-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673849C>T" "" "likely benign" ""
"0000504512" "0" "30" "1" "196643027" "196643027" "subst" "0.000390168" "02330" "CFH_000008" "g.196643027T>C" "" "" "" "CFH(NM_000186.3):c.285T>C (p.T95=), CFH(NM_000186.4):c.285T>C (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673897T>C" "" "likely benign" ""
"0000504513" "0" "70" "1" "196645169" "196645169" "subst" "0" "02327" "CFH_000069" "g.196645169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196676039G>A" "" "likely pathogenic" ""
"0000504514" "0" "30" "1" "196646655" "196646655" "subst" "0.0037954" "02327" "CFH_000070" "g.196646655T>C" "" "" "" "CFH(NM_000186.3):c.477T>C (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196677525T>C" "" "likely benign" ""
"0000504515" "0" "90" "1" "196646798" "196646798" "subst" "0" "02327" "CFH_000071" "g.196646798G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196677668G>A" "" "pathogenic" ""
"0000504516" "0" "50" "1" "196648897" "196648897" "subst" "4.89301E-5" "02327" "CFH_000072" "g.196648897G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196679767G>A" "" "VUS" ""
"0000504517" "0" "30" "1" "196654252" "196654252" "subst" "2.85033E-5" "01943" "CFH_000073" "g.196654252A>G" "" "" "" "CFH(NM_000186.3):c.849A>G (p.K283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196685122A>G" "" "likely benign" ""
"0000504518" "0" "30" "1" "196654261" "196654261" "subst" "4.0712E-6" "02327" "CFH_000074" "g.196654261T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196685131T>A" "" "likely benign" ""
"0000504519" "0" "50" "1" "196654324" "196654324" "subst" "0.675274" "01943" "CFH_000013" "g.196654324A>C" "" "" "" "CFH(NM_000186.3):c.921A>C (p.A307=), CFH(NM_000186.4):c.921A>C (p.A307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196685194A>C" "" "VUS" ""
"0000504520" "0" "50" "1" "196658574" "196658574" "subst" "0" "02330" "CFH_000075" "g.196658574T>G" "" "" "" "CFH(NM_000186.4):c.989T>G (p.I330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196689444T>G" "" "VUS" ""
"0000504522" "0" "30" "1" "196658763" "196658763" "subst" "0.0018223" "02327" "CFH_000016" "g.196658763T>G" "" "" "" "CFH(NM_000186.3):c.1159+19T>G, CFH(NM_000186.4):c.1159+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196689633T>G" "" "likely benign" ""
"0000504523" "0" "50" "1" "196659199" "196659199" "subst" "4.11188E-6" "02327" "CFH_000076" "g.196659199G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196690069G>A" "" "VUS" ""
"0000504524" "0" "50" "1" "196659231" "196659231" "subst" "9.78625E-5" "01943" "CFH_000077" "g.196659231C>A" "" "" "" "CFH(NM_000186.3):c.1198C>A (p.Q400K, p.(Gln400Lys)), CFH(NM_000186.4):c.1198C>A (p.Q400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196690101C>A" "" "VUS" ""
"0000504525" "0" "30" "1" "196659231" "196659231" "subst" "9.78625E-5" "02327" "CFH_000077" "g.196659231C>A" "" "" "" "CFH(NM_000186.3):c.1198C>A (p.Q400K, p.(Gln400Lys)), CFH(NM_000186.4):c.1198C>A (p.Q400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196690101C>A" "" "likely benign" ""
"0000504526" "0" "50" "1" "196659231" "196659231" "subst" "9.78625E-5" "02325" "CFH_000077" "g.196659231C>A" "" "" "" "CFH(NM_000186.3):c.1198C>A (p.Q400K, p.(Gln400Lys)), CFH(NM_000186.4):c.1198C>A (p.Q400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196690101C>A" "" "VUS" ""
"0000504531" "0" "70" "1" "196659255" "196659255" "subst" "0" "02327" "CFH_000078" "g.196659255C>T" "" "" "" "CFH(NM_000186.4):c.1222C>T (p.Q408*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196690125C>T" "" "likely pathogenic" ""
"0000504533" "0" "10" "1" "196682947" "196682947" "subst" "0.443851" "02325" "CFH_000058" "g.196682947G>A" "" "" "" "CFH(NM_000186.3):c.1419G>A (p.A473=), CFH(NM_000186.4):c.1419G>A (p.A473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196713817G>A" "" "benign" ""
"0000504534" "0" "10" "1" "196682947" "196682947" "subst" "0.443851" "02326" "CFH_000058" "g.196682947G>A" "" "" "" "CFH(NM_000186.3):c.1419G>A (p.A473=), CFH(NM_000186.4):c.1419G>A (p.A473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196713817G>A" "" "benign" ""
"0000504535" "0" "30" "1" "196682956" "196682956" "subst" "0.00391539" "02327" "CFH_000079" "g.196682956A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196713826A>G" "" "likely benign" ""
"0000504536" "0" "50" "1" "196684751" "196684751" "subst" "0.000321821" "02325" "CFH_000080" "g.196684751T>A" "" "" "" "CFH(NM_000186.3):c.1548T>A (p.N516K), CFH(NM_000186.4):c.1548T>A (p.N516K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196715621T>A" "" "VUS" ""
"0000504538" "0" "50" "1" "196695648" "196695648" "subst" "5.28993E-5" "02330" "CFH_000081" "g.196695648T>C" "" "" "" "CFH(NM_000186.3):c.1922T>C (p.V641A, p.(Val641Ala)), CFH(NM_000186.4):c.1922T>C (p.V641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726518T>C" "" "VUS" ""
"0000504539" "0" "30" "1" "196695648" "196695648" "subst" "5.28993E-5" "01943" "CFH_000081" "g.196695648T>C" "" "" "" "CFH(NM_000186.3):c.1922T>C (p.V641A, p.(Val641Ala)), CFH(NM_000186.4):c.1922T>C (p.V641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726518T>C" "" "likely benign" ""
"0000504540" "0" "30" "1" "196695648" "196695648" "subst" "5.28993E-5" "02327" "CFH_000081" "g.196695648T>C" "" "" "" "CFH(NM_000186.3):c.1922T>C (p.V641A, p.(Val641Ala)), CFH(NM_000186.4):c.1922T>C (p.V641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726518T>C" "" "likely benign" ""
"0000504541" "0" "30" "1" "196695704" "196695704" "subst" "0" "01943" "CFH_000082" "g.196695704A>C" "" "" "" "CFH(NM_000186.3):c.1978A>C (p.N660H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726574A>C" "" "likely benign" ""
"0000504542" "0" "30" "1" "196695768" "196695768" "subst" "0" "02327" "CFH_000083" "g.196695768T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726638T>C" "" "likely benign" ""
"0000504543" "0" "50" "1" "196696050" "196696050" "subst" "8.1369E-6" "01943" "CFH_000084" "g.196696050C>A" "" "" "" "CFH(NM_000186.3):c.2216C>A (p.T739N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726920C>A" "" "VUS" ""
"0000504544" "0" "30" "1" "196697605" "196697605" "subst" "0" "01943" "CFH_000085" "g.196697605A>G" "" "" "" "CFH(NM_000186.3):c.2366A>G (p.H789R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196728475A>G" "" "likely benign" ""
"0000504545" "0" "10" "1" "196705939" "196705939" "subst" "0" "02330" "CFH_000086" "g.196705939T>G" "" "" "" "CFH(NM_000186.4):c.2414-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196736809T>G" "" "benign" ""
"0000504546" "0" "50" "1" "196706008" "196706008" "subst" "0" "02330" "CFH_000087" "g.196706008T>G" "" "" "" "CFH(NM_000186.4):c.2468T>G (p.M823R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196736878T>G" "" "VUS" ""
"0000504547" "0" "50" "1" "196706049" "196706049" "subst" "0.00136946" "02327" "CFH_000028" "g.196706049G>A" "" "" "" "CFH(NM_000186.3):c.2509G>A (p.V837I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196736919G>A" "" "VUS" ""
"0000504548" "0" "10" "1" "196706642" "196706642" "subst" "0.0105082" "02327" "CFH_000030" "g.196706642C>T" "" "" "" "CFH(NM_000186.3):c.2634C>T (p.H878=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196737512C>T" "" "benign" ""
"0000504549" "0" "90" "1" "196706756" "196706756" "subst" "0" "02327" "CFH_000088" "g.196706756C>G" "" "" "" "CFH(NM_000186.3):c.2748C>G (p.Y916*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196737626C>G" "" "pathogenic" ""
"0000504550" "0" "30" "1" "196709787" "196709787" "subst" "0.000410329" "01943" "CFH_000089" "g.196709787G>T" "" "" "" "CFH(NM_000186.3):c.2821G>T (p.V941F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740657G>T" "" "likely benign" ""
"0000504551" "0" "30" "1" "196709816" "196709816" "subst" "0.00389137" "02327" "CFH_000036" "g.196709816G>T" "" "" "" "CFH(NM_000186.3):c.2850G>T (p.Q950H), CFH(NM_000186.4):c.2850G>T (p.Q950H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740686G>T" "" "likely benign" ""
"0000504552" "0" "50" "1" "196709833" "196709833" "subst" "0.0013201" "02330" "CFH_000037" "g.196709833C>T" "" "" "" "CFH(NM_000186.3):c.2867C>T (p.T956M), CFH(NM_000186.4):c.2867C>T (p.T956M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740703C>T" "" "VUS" ""
"0000504553" "0" "30" "1" "196709833" "196709833" "subst" "0.0013201" "02327" "CFH_000037" "g.196709833C>T" "" "" "" "CFH(NM_000186.3):c.2867C>T (p.T956M), CFH(NM_000186.4):c.2867C>T (p.T956M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740703C>T" "" "likely benign" ""
"0000504554" "0" "50" "1" "196709838" "196709838" "subst" "0" "02327" "CFH_000090" "g.196709838A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740708A>G" "" "VUS" ""
"0000504555" "0" "50" "1" "196709912" "196709912" "subst" "0.000576997" "02327" "CFH_000091" "g.196709912A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740782A>G" "" "VUS" ""
"0000504557" "0" "50" "1" "196709927" "196709927" "subst" "4.06494E-6" "02327" "CFH_000093" "g.196709927G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740797G>A" "" "VUS" ""
"0000504558" "0" "30" "1" "196711189" "196711189" "subst" "0.00104008" "02327" "CFH_000040" "g.196711189G>T" "" "" "" "CFH(NM_000186.4):c.3133+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196742059G>T" "" "likely benign" ""
"0000504559" "0" "30" "1" "196712577" "196712577" "subst" "0" "01804" "CFH_000042" "g.196712577T>C" "" "" "" "CFH(NM_000186.3):c.3134-5T>C (p.?), CFH(NM_000186.4):c.3134-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196743447T>C" "" "likely benign" ""
"0000504560" "0" "30" "1" "196712598" "196712598" "subst" "0" "02326" "CFH_000045" "g.196712598T>C" "" "" "" "CFH(NM_000186.3):c.3150T>C (p.N1050=), CFH(NM_000186.4):c.3150T>C (p.N1050=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196743468T>C" "" "likely benign" ""
"0000504561" "0" "30" "1" "196712624" "196712624" "subst" "0.0051744" "02327" "CFH_000046" "g.196712624T>C" "" "" "" "CFH(NM_000186.3):c.3176T>C (p.I1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196743494T>C" "" "likely benign" ""
"0000605030" "0" "70" "1" "196642207" "196642207" "subst" "0" "02327" "CFH_000095" "g.196642207G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673077G>A" "" "likely pathogenic" ""
"0000605031" "0" "30" "1" "196643107" "196643107" "subst" "0.000195355" "02330" "CFH_000097" "g.196643107C>T" "" "" "" "CFH(NM_000186.4):c.350+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673977C>T" "" "likely benign" ""
"0000605032" "0" "70" "1" "196684722" "196684722" "subst" "0" "02327" "CFH_000099" "g.196684722G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196715592G>A" "" "likely pathogenic" ""
"0000605033" "0" "30" "1" "196695580" "196695580" "subst" "0" "02327" "CFH_000100" "g.196695580A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726450A>G" "" "likely benign" ""
"0000620453" "0" "30" "1" "196643090" "196643090" "subst" "0.00013417" "01943" "CFH_000096" "g.196643090G>A" "" "" "" "CFH(NM_000186.3):c.348G>A (p.E116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673960G>A" "" "likely benign" ""
"0000620454" "0" "30" "1" "196645144" "196645144" "subst" "0" "01943" "CFH_000098" "g.196645144T>C" "" "" "" "CFH(NM_000186.3):c.376T>C (p.Y126H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196676014T>C" "" "likely benign" ""
"0000620455" "0" "30" "1" "196709816" "196709816" "subst" "0.00389137" "02325" "CFH_000036" "g.196709816G>T" "" "" "" "CFH(NM_000186.3):c.2850G>T (p.Q950H), CFH(NM_000186.4):c.2850G>T (p.Q950H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740686G>T" "" "likely benign" ""
"0000620456" "0" "50" "1" "196709833" "196709833" "subst" "0.0013201" "02325" "CFH_000037" "g.196709833C>T" "" "" "" "CFH(NM_000186.3):c.2867C>T (p.T956M), CFH(NM_000186.4):c.2867C>T (p.T956M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196740703C>T" "" "VUS" ""
"0000620457" "0" "30" "1" "196712620" "196712620" "subst" "0.000654168" "01943" "CFH_000102" "g.196712620T>C" "" "" "" "CFH(NM_000186.3):c.3172T>C (p.Y1058H), CFH(NM_000186.4):c.3172T>C (p.Y1058H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196743490T>C" "" "likely benign" ""
"0000620458" "0" "30" "1" "196712626" "196712626" "subst" "0.000593313" "01943" "CFH_000103" "g.196712626G>C" "" "" "" "CFH(NM_000186.3):c.3178G>C (p.V1060L), CFH(NM_000186.4):c.3178G>C (p.V1060L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196743496G>C" "" "likely benign" ""
"0000653827" "0" "30" "1" "196621311" "196621311" "subst" "3.66656E-5" "01943" "CFH_000104" "g.196621311A>C" "" "" "" "CFH(NM_000186.3):c.58+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196652181A>C" "" "likely benign" ""
"0000653828" "0" "30" "1" "196642978" "196642978" "dup" "0" "02325" "CFH_000105" "g.196642978dup" "" "" "" "CFH(NM_000186.4):c.245-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196673848dup" "" "likely benign" ""
"0000653830" "0" "30" "1" "196682859" "196682859" "subst" "1.2559E-5" "01943" "CFH_000107" "g.196682859T>A" "" "" "" "CFH(NM_000186.3):c.1337-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196713729T>A" "" "likely benign" ""
"0000653831" "0" "30" "1" "196696078" "196696078" "subst" "0.00355912" "02327" "CFH_000108" "g.196696078T>A" "" "" "" "CFH(NM_000186.3):c.2236+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.196726948T>A" "" "likely benign" ""
"0000675570" "0" "50" "1" "196646762" "196646762" "subst" "0" "02327" "CFH_000111" "g.196646762A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000675571" "0" "50" "1" "196682887" "196682887" "subst" "8.19162E-6" "02327" "CFH_000112" "g.196682887A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000675572" "0" "30" "1" "196695675" "196695675" "subst" "0.000260478" "01943" "CFH_000113" "g.196695675G>T" "" "" "" "CFH(NM_000186.3):c.1949G>T (p.G650V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675573" "0" "30" "1" "196696005" "196696005" "subst" "6.50576E-5" "01943" "CFH_000114" "g.196696005C>A" "" "" "" "CFH(NM_000186.3):c.2171C>A (p.T724K, p.(Thr724Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675574" "0" "30" "1" "196697486" "196697486" "subst" "8.16655E-5" "01943" "CFH_000115" "g.196697486A>G" "" "" "" "CFH(NM_000186.3):c.2247A>G (p.K749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675575" "0" "30" "1" "196697517" "196697517" "subst" "2.1416E-5" "02326" "CFH_000116" "g.196697517A>T" "" "" "" "CFH(NM_000186.3):c.2278A>T (p.I760L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675576" "0" "30" "1" "196712620" "196712620" "subst" "0.000654168" "02326" "CFH_000102" "g.196712620T>C" "" "" "" "CFH(NM_000186.3):c.3172T>C (p.Y1058H), CFH(NM_000186.4):c.3172T>C (p.Y1058H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675577" "0" "30" "1" "196712626" "196712626" "subst" "0.000593313" "02326" "CFH_000103" "g.196712626G>C" "" "" "" "CFH(NM_000186.3):c.3178G>C (p.V1060L), CFH(NM_000186.4):c.3178G>C (p.V1060L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000687958" "0" "30" "1" "196642978" "196642978" "del" "0" "02325" "CFH_000117" "g.196642978del" "" "" "" "CFH(NM_000186.3):c.245-9delT, CFH(NM_000186.4):c.245-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000687959" "0" "50" "1" "196645125" "196645125" "subst" "0.000130324" "02327" "CFH_000118" "g.196645125A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000687960" "0" "50" "1" "196645156" "196645156" "subst" "0.000134325" "01943" "CFH_000054" "g.196645156G>A" "" "" "" "CFH(NM_000186.3):c.388G>A (p.D130N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000687961" "0" "50" "1" "196648780" "196648780" "subst" "0.000122774" "02325" "CFH_000106" "g.196648780T>C" "" "" "" "CFH(NM_000186.3):c.647T>C (p.I216T, p.(Ile216Thr)), CFH(NM_000186.4):c.647T>C (p.I216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000687962" "0" "30" "1" "196694261" "196694261" "subst" "0.000348227" "02326" "CFH_000119" "g.196694261C>T" "" "" "" "CFH(NM_000186.3):c.1707C>T (p.C569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717043" "0" "50" "1" "196642233" "196642233" "subst" "0.316073" "02329" "CFH_000051" "g.196642233G>A" "" "" "" "CFH(NM_000186.3):c.184G>A (p.V62I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717044" "0" "50" "1" "196648780" "196648780" "subst" "0.000122774" "01943" "CFH_000106" "g.196648780T>C" "" "" "" "CFH(NM_000186.3):c.647T>C (p.I216T, p.(Ile216Thr)), CFH(NM_000186.4):c.647T>C (p.I216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717046" "0" "50" "1" "196682947" "196682947" "subst" "0.443851" "02329" "CFH_000058" "g.196682947G>A" "" "" "" "CFH(NM_000186.3):c.1419G>A (p.A473=), CFH(NM_000186.4):c.1419G>A (p.A473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717047" "0" "30" "1" "196695911" "196695911" "subst" "0.000134154" "01943" "CFH_000026" "g.196695911G>A" "" "" "" "CFH(NM_000186.3):c.2077G>A (p.D693N), CFH(NM_000186.4):c.2077G>A (p.D693N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717048" "0" "30" "1" "196716372" "196716372" "subst" "4.06497E-6" "01943" "CFH_000048" "g.196716372T>A" "" "" "" "CFH(NM_000186.3):c.3625T>A (p.S1209T), CFH(NM_000186.4):c.3625T>A (p.S1209T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000763712" "0" "50" "1" "196646696" "196646696" "subst" "0" "00000" "CFH_000120" "g.196646696C>G" "" "{PMID:Duvvari 2016:27007659}" "" "518C>G" "" "Germline" "" "" "0" "" "" "g.196677566C>G" "" "VUS" ""
"0000763764" "0" "90" "1" "196709816" "196709816" "subst" "0.00389137" "00000" "CFH_000036" "g.196709816G>T" "" "{PMID:Duvvari 2016:27007659}" "" "2850G>T" "" "Germline" "" "rs149474608" "0" "" "" "g.196740686G>T" "" "likely pathogenic" ""
"0000764584" "1" "90" "1" "196642233" "196642233" "subst" "0.316073" "00008" "CFH_000051" "g.196642233G>A" "" "{PMID:Fuse 2006:17157600}" "" "Val62Ile" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000764585" "1" "90" "1" "196659237" "196659237" "subst" "0.678669" "00008" "CFH_000057" "g.196659237C>T" "" "{PMID:Fuse 2006:17157600}" "" "Tyr402His" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000785575" "0" "50" "1" "196712620" "196712620" "subst" "0.000654168" "00000" "CFH_000102" "g.196712620T>C" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "no" "" "0" "" "" "g.196743490T>C" "" "VUS" ""
"0000785576" "0" "50" "1" "196712626" "196712626" "subst" "0.000593313" "00000" "CFH_000103" "g.196712626G>C" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "no" "" "0" "" "" "g.196743496G>C" "" "VUS" ""
"0000785602" "3" "90" "1" "196642150" "196642150" "subst" "8.13921E-6" "00000" "CFH_000121" "g.196642150C>G" "" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Germline" "" "" "0" "" "" "g.196673020C>G" "" "pathogenic (recessive)" ""
"0000788350" "0" "50" "1" "196695677" "196695677" "subst" "0" "00000" "CFH_000122" "g.196695677C>T" "" "{PMID:Katagiri 2014:25268133}" "" "C1951T" "" "Germline" "" "" "0" "" "" "g.196726547C>T" "" "VUS" ""
"0000789707" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789708" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789709" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789710" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789712" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789713" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789715" "3" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789716" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789717" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789718" "3" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789719" "3" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789720" "3" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789721" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789722" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789723" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789724" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789725" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789726" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789727" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000789728" "0" "30" "1" "196659237" "196659237" "subst" "0" "00000" "CFH_000123" "g.196659237T>C" "" "{PMID:Barbazetto 2007:18161617}" "" "Y402H(c.1204T>C)" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" ""
"0000791684" "1" "70" "1" "196697486" "196697491" "del" "0" "00006" "CFH_000124" "g.196697486_196697491del" "" "{PMID:Namburi 2020:32476814}" "" "" "variant absent in one mildly affected case (PatI2)" "Germline" "yes" "" "0" "" "" "g.196728356_196728361del" "" "VUS" ""
"0000798961" "0" "50" "1" "196621254" "196621254" "subst" "0.000239874" "01943" "CFH_000127" "g.196621254C>G" "" "" "" "CFH(NM_000186.3):c.7C>G (p.L3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000798962" "0" "30" "1" "196643027" "196643027" "subst" "0.000390168" "02326" "CFH_000008" "g.196643027T>C" "" "" "" "CFH(NM_000186.3):c.285T>C (p.T95=), CFH(NM_000186.4):c.285T>C (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000798963" "0" "30" "1" "196643090" "196643090" "subst" "0.00013417" "02327" "CFH_000096" "g.196643090G>A" "" "" "" "CFH(NM_000186.3):c.348G>A (p.E116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000798964" "0" "90" "1" "196646604" "196646604" "subst" "0" "02327" "CFH_000128" "g.196646604A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000798965" "0" "30" "1" "196646659" "196646659" "subst" "7.72816E-5" "02326" "CFH_000010" "g.196646659G>T" "" "" "" "CFH(NM_000186.3):c.481G>T (p.A161S, p.(Ala161Ser)), CFH(NM_000186.4):c.481G>T (p.A161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000798966" "0" "30" "1" "196694261" "196694261" "subst" "0.000348227" "01943" "CFH_000119" "g.196694261C>T" "" "" "" "CFH(NM_000186.3):c.1707C>T (p.C569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000798967" "0" "50" "1" "196694346" "196694346" "subst" "2.03459E-5" "02329" "CFH_000129" "g.196694346A>C" "" "" "" "CFH(NM_000186.3):c.1792A>C (p.K598Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000798968" "0" "30" "1" "196695910" "196695910" "subst" "4.06501E-6" "01943" "CFH_000130" "g.196695910A>G" "" "" "" "CFH(NM_000186.3):c.2076A>G (p.G692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000798969" "0" "50" "1" "196712682" "196712682" "subst" "6.90456E-5" "01943" "CFH_000059" "g.196712682G>T" "" "" "" "CFH(NM_000186.3):c.3234G>T (p.R1078S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000798971" "0" "70" "1" "196716375" "196716375" "subst" "0.000142266" "02326" "CFH_000132" "g.196716375C>T" "" "" "" "CFH(NM_000186.3):c.3628C>T (p.R1210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000848434" "0" "30" "1" "196621327" "196621328" "del" "0" "02326" "CFH_000133" "g.196621327_196621328del" "" "" "" "CFH(NM_000186.3):c.58+22_58+23delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848435" "0" "50" "1" "196642173" "196642173" "subst" "0" "02329" "CFH_000134" "g.196642173T>G" "" "" "" "CFH(NM_000186.3):c.124T>G (p.Y42D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848436" "0" "50" "1" "196643083" "196643083" "subst" "0" "02327" "CFH_000135" "g.196643083G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848437" "0" "10" "1" "196658763" "196658763" "subst" "0.0018223" "02326" "CFH_000016" "g.196658763T>G" "" "" "" "CFH(NM_000186.3):c.1159+19T>G, CFH(NM_000186.4):c.1159+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000848439" "0" "50" "1" "196711157" "196711157" "subst" "0" "01943" "CFH_000138" "g.196711157T>A" "" "" "" "CFH(NM_000186.3):c.3109T>A (p.W1037R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848440" "0" "30" "1" "196712655" "196712655" "subst" "0.000974825" "02326" "CFH_000047" "g.196712655T>C" "" "" "" "CFH(NM_000186.3):c.3207T>C (p.S1069=), CFH(NM_000186.4):c.3207T>C (p.S1069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857186" "0" "30" "1" "196646655" "196646655" "subst" "0.0037954" "02326" "CFH_000070" "g.196646655T>C" "" "" "" "CFH(NM_000186.3):c.477T>C (p.S159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857187" "0" "50" "1" "196646659" "196646659" "subst" "7.72816E-5" "01943" "CFH_000010" "g.196646659G>T" "" "" "" "CFH(NM_000186.3):c.481G>T (p.A161S, p.(Ala161Ser)), CFH(NM_000186.4):c.481G>T (p.A161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857188" "0" "50" "1" "196684751" "196684751" "subst" "0.000321821" "01943" "CFH_000080" "g.196684751T>A" "" "" "" "CFH(NM_000186.3):c.1548T>A (p.N516K), CFH(NM_000186.4):c.1548T>A (p.N516K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857189" "0" "50" "1" "196684768" "196684768" "subst" "0" "01943" "CFH_000136" "g.196684768A>G" "" "" "" "CFH(NM_000186.3):c.1565A>G (p.D522G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857190" "0" "30" "1" "196686918" "196686918" "subst" "0" "02327" "CFH_000137" "g.196686918G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857191" "0" "30" "1" "196709833" "196709833" "subst" "0.0013201" "02326" "CFH_000037" "g.196709833C>T" "" "" "" "CFH(NM_000186.3):c.2867C>T (p.T956M), CFH(NM_000186.4):c.2867C>T (p.T956M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857192" "0" "30" "1" "196712620" "196712620" "subst" "0.000654168" "02330" "CFH_000102" "g.196712620T>C" "" "" "" "CFH(NM_000186.3):c.3172T>C (p.Y1058H), CFH(NM_000186.4):c.3172T>C (p.Y1058H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000857193" "0" "30" "1" "196712626" "196712626" "subst" "0.000593313" "02330" "CFH_000103" "g.196712626G>C" "" "" "" "CFH(NM_000186.3):c.3178G>C (p.V1060L), CFH(NM_000186.4):c.3178G>C (p.V1060L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000873518" "0" "70" "1" "196716313" "196716313" "subst" "0" "00000" "CFH_000139" "g.196716313T>G" "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.196747183T>G" "" "likely pathogenic" ""
"0000873574" "0" "70" "1" "196716390" "196716390" "subst" "0" "00000" "CFH_000140" "g.196716390C>G" "196" "{PMID:Sun 2018:30076350}" "" "CFH (NM_000186.3):c.3643C>G(p.R1215G); CD46(NM_172359.2):c.1114A>T(p.R372W)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.196747260C>G" "" "likely pathogenic" ""
"0000874004" "0" "50" "1" "196659237" "196659237" "subst" "0.678669" "00000" "CFH_000057" "g.196659237C>T" "C: 129/1662 AMD cases" "{PMID:Fisher 2007:17216616}" "" "CFH Y402H" "error in annotation, reference is C and not T (H402Y and not Y402H), however, actual minor allele is C; heterozygous" "Germline" "yes" "" "0" "" "" "g.196690107C>T" "" "association" ""
"0000882987" "0" "30" "1" "196621254" "196621254" "subst" "0.000239874" "02326" "CFH_000127" "g.196621254C>G" "" "" "" "CFH(NM_000186.3):c.7C>G (p.L3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000882988" "0" "50" "1" "196642207" "196642207" "subst" "0" "02327" "CFH_000141" "g.196642207G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882989" "0" "50" "1" "196642221" "196642221" "subst" "0.000268732" "02326" "CFH_000067" "g.196642221T>G" "" "" "" "CFH(NM_000186.3):c.172T>G (p.S58A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882990" "0" "70" "1" "196642290" "196642290" "subst" "0" "02327" "CFH_000142" "g.196642290C>T" "" "" "" "CFH(NM_000186.3):c.241C>T (p.Q81*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000882991" "0" "90" "1" "196642290" "196642290" "subst" "0" "02326" "CFH_000142" "g.196642290C>T" "" "" "" "CFH(NM_000186.3):c.241C>T (p.Q81*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000882992" "0" "50" "1" "196646756" "196646756" "subst" "0" "02326" "CFH_000143" "g.196646756C>T" "" "" "" "CFH(NM_000186.3):c.578C>T (p.S193L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882993" "0" "30" "1" "196646760" "196646760" "subst" "2.85204E-5" "02326" "CFH_000011" "g.196646760C>T" "" "" "" "CFH(NM_000186.3):c.582C>T (p.D194=), CFH(NM_000186.4):c.582C>T (p.D194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000882994" "0" "70" "1" "196654304" "196654304" "del" "0" "02326" "CFH_000144" "g.196654304del" "" "" "" "CFH(NM_000186.3):c.901delG (p.A301Qfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000882995" "0" "50" "1" "196654311" "196654311" "subst" "1.6287E-5" "02326" "CFH_000145" "g.196654311G>A" "" "" "" "CFH(NM_000186.3):c.908G>A (p.R303Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000882996" "0" "70" "1" "196659255" "196659255" "subst" "0" "02330" "CFH_000078" "g.196659255C>T" "" "" "" "CFH(NM_000186.4):c.1222C>T (p.Q408*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000882997" "0" "30" "1" "196696078" "196696078" "subst" "0.00355912" "02326" "CFH_000108" "g.196696078T>A" "" "" "" "CFH(NM_000186.3):c.2236+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000882998" "0" "70" "1" "196697512" "196697516" "del" "0" "02327" "CFH_000146" "g.196697512_196697516del" "" "" "" "CFH(NM_000186.3):c.2273_2277delTAATT (p.L758Yfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000882999" "0" "90" "1" "196697512" "196697516" "del" "0" "02326" "CFH_000146" "g.196697512_196697516del" "" "" "" "CFH(NM_000186.3):c.2273_2277delTAATT (p.L758Yfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000883000" "0" "30" "1" "196705951" "196705951" "subst" "0" "02326" "CFH_000147" "g.196705951T>C" "" "" "" "CFH(NM_000186.3):c.2414-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883001" "0" "50" "1" "196706778" "196706778" "subst" "0" "02327" "CFH_000148" "g.196706778C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883002" "0" "30" "1" "196710998" "196710998" "subst" "0.00017876" "02326" "CFH_000149" "g.196710998A>G" "" "" "" "CFH(NM_000186.3):c.2957-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883003" "0" "10" "1" "196711098" "196711098" "subst" "0.000966741" "02326" "CFH_000038" "g.196711098C>T" "" "" "" "CFH(NM_000186.3):c.3050C>T (p.T1017I), CFH(NM_000186.4):c.3050C>T (p.T1017I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883004" "0" "30" "1" "196711150" "196711150" "subst" "0.0016812" "02326" "CFH_000039" "g.196711150T>C" "" "" "" "CFH(NM_000186.3):c.3102T>C (p.N1034=), CFH(NM_000186.4):c.3102T>C (p.N1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000883005" "0" "90" "1" "196716375" "196716375" "subst" "0.000142266" "02327" "CFH_000132" "g.196716375C>T" "" "" "" "CFH(NM_000186.3):c.3628C>T (p.R1210C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000910866" "0" "30" "1" "196642978" "196642978" "del" "0" "02326" "CFH_000117" "g.196642978del" "" "" "" "CFH(NM_000186.3):c.245-9delT, CFH(NM_000186.4):c.245-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910867" "0" "30" "1" "196643101" "196643101" "subst" "0.00026845" "02326" "CFH_000150" "g.196643101T>C" "" "" "" "CFH(NM_000186.3):c.350+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910868" "0" "30" "1" "196648780" "196648780" "subst" "0.000122774" "02326" "CFH_000106" "g.196648780T>C" "" "" "" "CFH(NM_000186.3):c.647T>C (p.I216T, p.(Ile216Thr)), CFH(NM_000186.4):c.647T>C (p.I216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910869" "0" "30" "1" "196695648" "196695648" "subst" "5.28993E-5" "02326" "CFH_000081" "g.196695648T>C" "" "" "" "CFH(NM_000186.3):c.1922T>C (p.V641A, p.(Val641Ala)), CFH(NM_000186.4):c.1922T>C (p.V641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910870" "0" "90" "1" "196706756" "196706756" "subst" "0" "02326" "CFH_000088" "g.196706756C>G" "" "" "" "CFH(NM_000186.3):c.2748C>G (p.Y916*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000910871" "0" "30" "1" "196706776" "196706776" "subst" "0" "02327" "CFH_000151" "g.196706776C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910872" "0" "50" "1" "196712719" "196712719" "subst" "0" "02326" "CFH_000152" "g.196712719T>A" "" "" "" "CFH(NM_000186.3):c.3271T>A (p.C1091S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000910873" "0" "30" "1" "196714940" "196714940" "subst" "4.06213E-5" "02326" "CFH_000153" "g.196714940T>C" "" "" "" "CFH(NM_000186.3):c.3311-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923026" "0" "30" "1" "196642194" "196642194" "subst" "1.62721E-5" "02326" "CFH_000050" "g.196642194A>G" "" "" "" "CFH(NM_000186.3):c.145A>G (p.I49V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923027" "0" "30" "1" "196643027" "196643027" "subst" "0.000390168" "02327" "CFH_000008" "g.196643027T>C" "" "" "" "CFH(NM_000186.3):c.285T>C (p.T95=), CFH(NM_000186.4):c.285T>C (p.T95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923028" "0" "30" "1" "196643090" "196643090" "subst" "0.00013417" "02326" "CFH_000096" "g.196643090G>A" "" "" "" "CFH(NM_000186.3):c.348G>A (p.E116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923029" "0" "70" "1" "196648824" "196648824" "subst" "0" "02329" "CFH_000154" "g.196648824G>T" "" "" "" "CFH(NM_000186.4):c.691G>T (p.E231*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000923030" "0" "30" "1" "196654376" "196654376" "subst" "6.51561E-5" "02330" "CFH_000155" "g.196654376C>T" "" "" "" "CFH(NM_000186.4):c.964+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923031" "0" "30" "1" "196684751" "196684751" "subst" "0.000321821" "02327" "CFH_000080" "g.196684751T>A" "" "" "" "CFH(NM_000186.3):c.1548T>A (p.N516K), CFH(NM_000186.4):c.1548T>A (p.N516K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000923032" "0" "50" "1" "196694290" "196694290" "subst" "0.000106026" "02327" "CFH_000156" "g.196694290T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000923033" "0" "50" "1" "196706677" "196706677" "subst" "4.06752E-5" "02327" "CFH_000157" "g.196706677G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928081" "0" "50" "1" "196642173" "196642173" "subst" "0" "02326" "CFH_000134" "g.196642173T>G" "" "" "" "CFH(NM_000186.3):c.124T>G (p.Y42D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928082" "0" "30" "1" "196682946" "196682946" "subst" "8.56164E-5" "02326" "CFH_000158" "g.196682946C>T" "" "" "" "CFH(NM_000186.3):c.1418C>T (p.A473V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928083" "0" "50" "1" "196695765" "196695765" "subst" "0" "02327" "CFH_000159" "g.196695765C>A" "" "" "" "(p.(Thr680Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000928084" "0" "30" "1" "196695987" "196695987" "subst" "8.13127E-6" "02326" "CFH_000160" "g.196695987A>G" "" "" "" "CFH(NM_000186.3):c.2153A>G (p.N718S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000928085" "0" "30" "1" "196714954" "196714954" "subst" "0.000142164" "02330" "CFH_000161" "g.196714954A>G" "" "" "" "CFH(NM_000186.4):c.3318A>G (p.T1106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947073" "0" "90" "1" "196658724" "196658724" "subst" "0" "02327" "CFH_000162" "g.196658724C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000947074" "0" "10" "1" "196711150" "196711150" "subst" "0.0016812" "02327" "CFH_000039" "g.196711150T>C" "" "" "" "CFH(NM_000186.3):c.3102T>C (p.N1034=), CFH(NM_000186.4):c.3102T>C (p.N1034=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000947075" "0" "50" "1" "196714965" "196714965" "subst" "5.27932E-5" "02327" "CFH_000163" "g.196714965G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000960699" "0" "70" "1" "196642206" "196642206" "subst" "1.22096E-5" "02329" "CFH_000110" "g.196642206C>T" "" "" "" "CFH(NM_000186.4):c.157C>T (p.R53C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000960703" "0" "50" "1" "196646745" "196646745" "subst" "0" "02327" "CFH_000164" "g.196646745A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000960704" "0" "30" "1" "196648794" "196648794" "subst" "1.63689E-5" "02327" "CFH_000165" "g.196648794A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000960705" "0" "50" "1" "196648912" "196648912" "subst" "0" "02327" "CFH_000166" "g.196648912C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000960707" "0" "30" "1" "196712577" "196712577" "subst" "0" "02327" "CFH_000042" "g.196712577T>C" "" "" "" "CFH(NM_000186.3):c.3134-5T>C (p.?), CFH(NM_000186.4):c.3134-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000960708" "0" "10" "1" "196712586" "196712586" "subst" "0" "02327" "CFH_000043" "g.196712586C>T" "" "" "" "CFH(NM_000186.3):c.3138C>T (p.T1046=), CFH(NM_000186.4):c.3138C>T (p.T1046=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000960709" "0" "50" "1" "196714961" "196714961" "subst" "0" "02327" "CFH_000167" "g.196714961T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973525" "0" "30" "1" "196642978" "196642978" "del" "0" "02330" "CFH_000117" "g.196642978del" "" "" "" "CFH(NM_000186.3):c.245-9delT, CFH(NM_000186.4):c.245-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973526" "0" "50" "1" "196659352" "196659352" "subst" "4.07077E-6" "02327" "CFH_000168" "g.196659352C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000987152" "0" "70" "1" "196621305" "196621305" "subst" "0" "00006" "CFH_000169" "g.196621305G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.196652175G>A" "" "likely pathogenic" "ACMG"
"0000990666" "0" "10" "1" "196642977" "196642978" "dup" "0" "01804" "CFH_000052" "g.196642977_196642978dup" "" "" "" "CFH(NM_000186.3):c.245-10_245-9dupTT (p.?), CFH(NM_000186.3):c.245-11_245-10dupTT, CFH(NM_000186.4):c.245-10_245-9dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000990667" "0" "50" "1" "196646659" "196646659" "subst" "7.72816E-5" "01804" "CFH_000010" "g.196646659G>T" "" "" "" "CFH(NM_000186.3):c.481G>T (p.A161S, p.(Ala161Ser)), CFH(NM_000186.4):c.481G>T (p.A161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990668" "0" "50" "1" "196648780" "196648780" "subst" "0.000122774" "01804" "CFH_000106" "g.196648780T>C" "" "" "" "CFH(NM_000186.3):c.647T>C (p.I216T, p.(Ile216Thr)), CFH(NM_000186.4):c.647T>C (p.I216T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990669" "0" "50" "1" "196659231" "196659231" "subst" "9.78625E-5" "01804" "CFH_000077" "g.196659231C>A" "" "" "" "CFH(NM_000186.3):c.1198C>A (p.Q400K, p.(Gln400Lys)), CFH(NM_000186.4):c.1198C>A (p.Q400K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990670" "0" "30" "1" "196682951" "196682951" "subst" "0" "02327" "CFH_000170" "g.196682951T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990671" "0" "30" "1" "196695648" "196695648" "subst" "5.28993E-5" "01804" "CFH_000081" "g.196695648T>C" "" "" "" "CFH(NM_000186.3):c.1922T>C (p.V641A, p.(Val641Ala)), CFH(NM_000186.4):c.1922T>C (p.V641A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990672" "0" "90" "1" "196695760" "196695760" "subst" "0" "02327" "CFH_000171" "g.196695760G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000990673" "0" "50" "1" "196696005" "196696005" "subst" "6.50576E-5" "01804" "CFH_000114" "g.196696005C>A" "" "" "" "CFH(NM_000186.3):c.2171C>A (p.T724K, p.(Thr724Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990674" "0" "50" "1" "196696029" "196696029" "subst" "6.50597E-5" "01804" "CFH_000172" "g.196696029C>T" "" "" "" "CFH(NM_000186.3):c.2195C>T (p.(Thr732Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990675" "0" "90" "1" "196706112" "196706112" "subst" "0" "02327" "CFH_000173" "g.196706112T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000990676" "0" "50" "1" "196706610" "196706610" "subst" "0" "02325" "CFH_000174" "g.196706610A>T" "" "" "" "CFH(NM_000186.4):c.2602A>T (p.I868F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990677" "0" "50" "1" "196706689" "196706689" "subst" "1.22023E-5" "02326" "CFH_000175" "g.196706689G>A" "" "" "" "CFH(NM_000186.3):c.2681G>A (p.G894E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990678" "0" "30" "1" "196716394" "196716394" "subst" "0" "01804" "CFH_000176" "g.196716394C>A" "" "" "" "CFH(NM_000186.3):c.3647C>A (p.(Thr1216Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013257" "0" "50" "1" "196658736" "196658736" "subst" "4.0864E-6" "02327" "CFH_000178" "g.196658736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001013258" "0" "30" "1" "196712620" "196712620" "subst" "0.000654168" "02327" "CFH_000102" "g.196712620T>C" "" "" "" "CFH(NM_000186.3):c.3172T>C (p.Y1058H), CFH(NM_000186.4):c.3172T>C (p.Y1058H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013259" "0" "30" "1" "196712626" "196712626" "subst" "0.000593313" "02327" "CFH_000103" "g.196712626G>C" "" "" "" "CFH(NM_000186.3):c.3178G>C (p.V1060L), CFH(NM_000186.4):c.3178G>C (p.V1060L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001024083" "0" "70" "1" "196645147" "196645147" "subst" "0" "02329" "CFH_000179" "g.196645147C>T" "" "" "" "CFH(NM_000186.4):c.379C>T (p.R127C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001031557" "0" "50" "1" "196712739" "196712739" "subst" "8.12618E-5" "02327" "CFH_000180" "g.196712739G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045619" "0" "50" "1" "196646704" "196646704" "subst" "4.88313E-5" "02327" "CFH_000181" "g.196646704T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045620" "0" "50" "1" "196646722" "196646722" "subst" "0" "02326" "CFH_000182" "g.196646722T>C" "" "" "" "CFH(NM_000186.3):c.544T>C (p.Y182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045621" "0" "30" "1" "196694261" "196694261" "subst" "0.000348227" "02327" "CFH_000119" "g.196694261C>T" "" "" "" "CFH(NM_000186.3):c.1707C>T (p.C569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001045622" "0" "90" "1" "196694332" "196694332" "subst" "0" "02327" "CFH_000183" "g.196694332T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001045623" "0" "70" "1" "196706098" "196706098" "subst" "0" "02327" "CFH_000184" "g.196706098G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001045624" "0" "50" "1" "196706761" "196706761" "subst" "8.13564E-6" "02327" "CFH_000185" "g.196706761G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001045625" "0" "30" "1" "196709750" "196709750" "subst" "0" "02326" "CFH_000186" "g.196709750C>A" "" "" "" "CFH(NM_000186.3):c.2784C>A (p.G928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001050384" "0" "50" "1" "196642173" "196642173" "subst" "0" "02327" "CFH_000134" "g.196642173T>G" "" "" "" "CFH(NM_000186.3):c.124T>G (p.Y42D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001050385" "0" "30" "1" "196648760" "196648760" "subst" "0" "02327" "CFH_000187" "g.196648760A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001050386" "0" "30" "1" "196648907" "196648907" "subst" "0" "02327" "CFH_000188" "g.196648907G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001050387" "0" "50" "1" "196658729" "196658729" "subst" "0" "02327" "CFH_000189" "g.196658729G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 CFH
## Count = 298
"{{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}}"
"0000059781" "00000233" "10" "2669" "0" "2669" "0" "c.2669G>T" "r.(?)" "p.(Ser890Ile)" "17"
"0000059782" "00000233" "10" "3019" "0" "3019" "0" "c.3019G>T" "r.(?)" "p.(Val1007Leu)" "19"
"0000245526" "00000233" "30" "1437" "0" "1437" "0" "c.1437A>G" "r.(?)" "p.(Leu479=)" ""
"0000245540" "00000233" "30" "964" "10" "964" "10" "c.964+10A>G" "r.(=)" "p.(=)" ""
"0000248185" "00000233" "10" "921" "0" "921" "0" "c.921A>C" "r.(?)" "p.(Ala307=)" ""
"0000250888" "00000233" "10" "921" "0" "921" "0" "c.921A>C" "r.(?)" "p.(Ala307=)" ""
"0000251127" "00000233" "10" "3148" "0" "3148" "0" "c.3148A>T" "r.(?)" "p.(Asn1050Tyr)" ""
"0000253542" "00000233" "10" "2637" "0" "2637" "0" "c.2637A>G" "r.(?)" "p.(Gly879=)" ""
"0000256468" "00000233" "50" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Arg567Gly)" ""
"0000264620" "00000233" "10" "1159" "19" "1159" "19" "c.1159+19T>G" "r.(=)" "p.(=)" ""
"0000264621" "00000233" "10" "1337" "-12" "1337" "-12" "c.1337-12C>T" "r.(=)" "p.(=)" ""
"0000264622" "00000233" "30" "1528" "0" "1528" "0" "c.1528G>T" "r.(?)" "p.(Asp510Tyr)" ""
"0000264623" "00000233" "30" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Asp693Asn)" ""
"0000264627" "00000233" "10" "245" "-8" "245" "-8" "c.245-8C>T" "r.(=)" "p.(=)" ""
"0000264628" "00000233" "10" "2783" "-3" "2783" "-3" "c.2783-3del" "r.spl?" "p.?" ""
"0000264629" "00000233" "10" "3050" "0" "3050" "0" "c.3050C>T" "r.(?)" "p.(Thr1017Ile)" ""
"0000264630" "00000233" "10" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Asn1034=)" ""
"0000264631" "00000233" "10" "3133" "8" "3133" "8" "c.3133+8G>T" "r.(=)" "p.(=)" ""
"0000264632" "00000233" "10" "3134" "-9" "3134" "-9" "c.3134-9del" "r.(=)" "p.(=)" ""
"0000264633" "00000233" "10" "3150" "0" "3150" "0" "c.3150T>C" "r.(?)" "p.(Asn1050=)" ""
"0000264634" "00000233" "10" "3207" "0" "3207" "0" "c.3207T>C" "r.(?)" "p.(Ser1069=)" ""
"0000264635" "00000233" "30" "3625" "0" "3625" "0" "c.3625T>A" "r.(?)" "p.(Ser1209Thr)" ""
"0000264636" "00000233" "10" "428" "-14" "428" "-14" "c.428-14T>C" "r.(=)" "p.(=)" ""
"0000264637" "00000233" "50" "481" "0" "481" "0" "c.481G>T" "r.(?)" "p.(Ala161Ser)" ""
"0000264638" "00000233" "10" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Asp194=)" ""
"0000266693" "00000233" "10" "3134" "-5" "3134" "-5" "c.3134-5T>C" "r.spl?" "p.?" ""
"0000266694" "00000233" "10" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(Thr1046=)" ""
"0000270026" "00000233" "10" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Ile551Thr)" ""
"0000270027" "00000233" "10" "244" "56" "244" "56" "c.244+56G>A" "r.(=)" "p.(=)" ""
"0000270029" "00000233" "30" "245" "-7" "245" "-7" "c.245-7G>A" "r.(=)" "p.(=)" ""
"0000270030" "00000233" "10" "2489" "0" "2489" "0" "c.2489G>A" "r.(?)" "p.(Arg830Gln)" ""
"0000270031" "00000233" "10" "2596" "64" "2596" "64" "c.2596+64C>T" "r.(=)" "p.(=)" ""
"0000270032" "00000233" "10" "2634" "0" "2634" "0" "c.2634C>T" "r.(?)" "p.(His878=)" ""
"0000270033" "00000233" "30" "2669" "0" "2669" "0" "c.2669G>T" "r.(?)" "p.(Ser890Ile)" ""
"0000270034" "00000233" "30" "2783" "-3" "2783" "-3" "c.2783-3del" "r.spl?" "p.?" ""
"0000270035" "00000233" "30" "2783" "0" "2783" "0" "c.2783G>C" "r.(?)" "p.(Gly928Ala)" ""
"0000270036" "00000233" "30" "2788" "0" "2788" "0" "c.2788C>T" "r.(?)" "p.(Pro930Ser)" ""
"0000270038" "00000233" "30" "2850" "0" "2850" "0" "c.2850G>T" "r.(?)" "p.(Gln950His)" ""
"0000270039" "00000233" "30" "3019" "0" "3019" "0" "c.3019G>T" "r.(?)" "p.(Val1007Leu)" ""
"0000270040" "00000233" "10" "3134" "-5" "3134" "-5" "c.3134-5T>C" "r.spl?" "p.?" ""
"0000270041" "00000233" "10" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(Thr1046=)" ""
"0000270042" "00000233" "10" "3176" "0" "3176" "0" "c.3176T>C" "r.(?)" "p.(Ile1059Thr)" ""
"0000270043" "00000233" "30" "428" "-14" "428" "-14" "c.428-14T>C" "r.(=)" "p.(=)" ""
"0000270044" "00000233" "30" "965" "-10" "965" "-10" "c.965-10T>A" "r.(=)" "p.(=)" ""
"0000273278" "00000233" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Ala425=)" ""
"0000273279" "00000233" "30" "1696" "10" "1696" "10" "c.1696+10G>C" "r.(=)" "p.(=)" ""
"0000273280" "00000233" "10" "1935" "0" "1935" "0" "c.1935G>T" "r.(?)" "p.(Thr645=)" ""
"0000273281" "00000233" "30" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Val837Ile)" ""
"0000273282" "00000233" "30" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Thr95=)" ""
"0000273283" "00000233" "30" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Thr956Met)" ""
"0000273284" "00000233" "10" "3050" "0" "3050" "0" "c.3050C>T" "r.(?)" "p.(Thr1017Ile)" ""
"0000273285" "00000233" "10" "3134" "-5" "3134" "-5" "c.3134-5T>C" "r.spl?" "p.?" ""
"0000273286" "00000233" "10" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(Thr1046=)" ""
"0000273287" "00000233" "10" "3150" "0" "3150" "0" "c.3150T>C" "r.(?)" "p.(Asn1050=)" ""
"0000273288" "00000233" "30" "3207" "0" "3207" "0" "c.3207T>C" "r.(?)" "p.(Ser1069=)" ""
"0000273289" "00000233" "30" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.(Glu201=)" ""
"0000337417" "00000233" "30" "245" "-5" "245" "-5" "c.245-5T>C" "r.spl?" "p.?" ""
"0000337418" "00000233" "30" "428" "-14" "428" "-14" "c.428-14T>C" "r.(=)" "p.(=)" ""
"0000337419" "00000233" "10" "1160" "-15" "1160" "-15" "c.1160-15T>C" "r.(=)" "p.(=)" ""
"0000339594" "00000233" "10" "921" "0" "921" "0" "c.921A>C" "r.(?)" "p.(Ala307=)" ""
"0000339595" "00000233" "10" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Ala473=)" ""
"0000341701" "00000233" "30" "3234" "0" "3234" "0" "c.3234G>T" "r.(?)" "p.(Arg1078Ser)" ""
"0000343115" "00000233" "50" "1699" "0" "1699" "0" "c.1699A>G" "r.(?)" "p.(Arg567Gly)" ""
"0000343552" "00000233" "10" "3148" "0" "3148" "0" "c.3148A>T" "r.(?)" "p.(Asn1050Tyr)" ""
"0000344316" "00000233" "70" "61" "0" "61" "0" "c.61T>A" "r.(?)" "p.(Cys21Ser)" ""
"0000344800" "00000233" "90" "1126" "0" "1126" "0" "c.1126C>T" "r.(?)" "p.(Gln376Ter)" ""
"0000346749" "00000233" "30" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Ile49Val)" ""
"0000349199" "00000233" "30" "2669" "0" "2669" "0" "c.2669G>T" "r.(?)" "p.(Ser890Ile)" ""
"0000349878" "00000233" "50" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(Tyr1081Cys)" ""
"0000350228" "00000233" "30" "3019" "0" "3019" "0" "c.3019G>T" "r.(?)" "p.(Val1007Leu)" ""
"0000350614" "00000233" "10" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Ile)" ""
"0000350997" "00000233" "70" "-331" "0" "-331" "0" "c.-331C>T" "r.(?)" "p.(=)" ""
"0000350999" "00000233" "10" "245" "-7" "245" "-7" "c.245-7G>A" "r.(=)" "p.(=)" ""
"0000405013" "00000233" "00" "791" "-2362" "791" "-2362" "c.791-2362T>C" "r.(=)" "p.(=)" ""
"0000405014" "00000233" "00" "59" "-7002" "59" "-7002" "c.59-7002G>A" "r.(=)" "p.(=)" ""
"0000405015" "00000233" "00" "2237" "-543" "2237" "-543" "c.2237-543G>A" "r.(=)" "p.(=)" ""
"0000405016" "00000233" "00" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(His402Tyr)" ""
"0000405165" "00000233" "00" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(His402Tyr)" ""
"0000504501" "00000233" "30" "139" "0" "139" "0" "c.139C>A" "r.(?)" "p.(Gln47Lys)" ""
"0000504502" "00000233" "50" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Ser58Ala)" ""
"0000504505" "00000233" "10" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Ile)" ""
"0000504506" "00000233" "30" "245" "-11" "245" "-9" "c.245-11_245-9dup" "r.(=)" "p.(=)" ""
"0000504507" "00000233" "10" "245" "-10" "245" "-9" "c.245-10_245-9dup" "r.(=)" "p.(=)" ""
"0000504508" "00000233" "10" "245" "-10" "245" "-9" "c.245-10_245-9dup" "r.(=)" "p.(=)" ""
"0000504509" "00000233" "30" "245" "-8" "245" "-8" "c.245-8C>T" "r.(=)" "p.(=)" ""
"0000504510" "00000233" "30" "245" "-8" "245" "-8" "c.245-8C>T" "r.(=)" "p.(=)" ""
"0000504512" "00000233" "30" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Thr95=)" ""
"0000504513" "00000233" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Trp134Ter)" ""
"0000504514" "00000233" "30" "477" "0" "477" "0" "c.477T>C" "r.(?)" "p.(Ser159=)" ""
"0000504515" "00000233" "90" "619" "1" "619" "1" "c.619+1G>A" "r.spl?" "p.?" ""
"0000504516" "00000233" "50" "764" "0" "764" "0" "c.764G>A" "r.(?)" "p.(Gly255Glu)" ""
"0000504517" "00000233" "30" "849" "0" "849" "0" "c.849A>G" "r.(?)" "p.(Lys283=)" ""
"0000504518" "00000233" "30" "858" "0" "858" "0" "c.858T>A" "r.(?)" "p.(Thr286=)" ""
"0000504519" "00000233" "50" "921" "0" "921" "0" "c.921A>C" "r.(?)" "p.(Ala307=)" ""
"0000504520" "00000233" "50" "989" "0" "989" "0" "c.989T>G" "r.(?)" "p.(Ile330Ser)" ""
"0000504522" "00000233" "30" "1159" "19" "1159" "19" "c.1159+19T>G" "r.(=)" "p.(=)" ""
"0000504523" "00000233" "50" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Cys389Tyr)" ""
"0000504524" "00000233" "50" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Gln400Lys)" ""
"0000504525" "00000233" "30" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Gln400Lys)" ""
"0000504526" "00000233" "50" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Gln400Lys)" ""
"0000504531" "00000233" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Gln408Ter)" ""
"0000504533" "00000233" "10" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Ala473=)" ""
"0000504534" "00000233" "10" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Ala473=)" ""
"0000504535" "00000233" "30" "1428" "0" "1428" "0" "c.1428A>G" "r.(?)" "p.(Gln476=)" ""
"0000504536" "00000233" "50" "1548" "0" "1548" "0" "c.1548T>A" "r.(?)" "p.(Asn516Lys)" ""
"0000504538" "00000233" "50" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Val641Ala)" ""
"0000504539" "00000233" "30" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Val641Ala)" ""
"0000504540" "00000233" "30" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Val641Ala)" ""
"0000504541" "00000233" "30" "1978" "0" "1978" "0" "c.1978A>C" "r.(?)" "p.(Asn660His)" ""
"0000504542" "00000233" "30" "2042" "0" "2042" "0" "c.2042T>C" "r.(?)" "p.(Leu681Ser)" ""
"0000504543" "00000233" "50" "2216" "0" "2216" "0" "c.2216C>A" "r.(?)" "p.(Thr739Asn)" ""
"0000504544" "00000233" "30" "2366" "0" "2366" "0" "c.2366A>G" "r.(?)" "p.(His789Arg)" ""
"0000504545" "00000233" "10" "2414" "-15" "2414" "-15" "c.2414-15T>G" "r.(=)" "p.(=)" ""
"0000504546" "00000233" "50" "2468" "0" "2468" "0" "c.2468T>G" "r.(?)" "p.(Met823Arg)" ""
"0000504547" "00000233" "50" "2509" "0" "2509" "0" "c.2509G>A" "r.(?)" "p.(Val837Ile)" ""
"0000504548" "00000233" "10" "2634" "0" "2634" "0" "c.2634C>T" "r.(?)" "p.(His878=)" ""
"0000504549" "00000233" "90" "2748" "0" "2748" "0" "c.2748C>G" "r.(?)" "p.(Tyr916Ter)" ""
"0000504550" "00000233" "30" "2821" "0" "2821" "0" "c.2821G>T" "r.(?)" "p.(Val941Phe)" ""
"0000504551" "00000233" "30" "2850" "0" "2850" "0" "c.2850G>T" "r.(?)" "p.(Gln950His)" ""
"0000504552" "00000233" "50" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Thr956Met)" ""
"0000504553" "00000233" "30" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Thr956Met)" ""
"0000504554" "00000233" "50" "2872" "0" "2872" "0" "c.2872A>G" "r.(?)" "p.(Lys958Glu)" ""
"0000504555" "00000233" "50" "2946" "0" "2946" "0" "c.2946A>G" "r.(?)" "p.(Pro982=)" ""
"0000504557" "00000233" "50" "2956" "5" "2956" "5" "c.2956+5G>A" "r.spl?" "p.?" ""
"0000504558" "00000233" "30" "3133" "8" "3133" "8" "c.3133+8G>T" "r.(=)" "p.(=)" ""
"0000504559" "00000233" "30" "3134" "-5" "3134" "-5" "c.3134-5T>C" "r.spl?" "p.?" ""
"0000504560" "00000233" "30" "3150" "0" "3150" "0" "c.3150T>C" "r.(?)" "p.(Asn1050=)" ""
"0000504561" "00000233" "30" "3176" "0" "3176" "0" "c.3176T>C" "r.(?)" "p.(Ile1059Thr)" ""
"0000605030" "00000233" "70" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" ""
"0000605031" "00000233" "30" "350" "15" "350" "15" "c.350+15C>T" "r.(=)" "p.(=)" ""
"0000605032" "00000233" "70" "1520" "-1" "1520" "-1" "c.1520-1G>A" "r.spl?" "p.?" ""
"0000605033" "00000233" "30" "1874" "-20" "1874" "-20" "c.1874-20A>G" "r.(=)" "p.(=)" ""
"0000620453" "00000233" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Glu116=)" ""
"0000620454" "00000233" "30" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Tyr126His)" ""
"0000620455" "00000233" "30" "2850" "0" "2850" "0" "c.2850G>T" "r.(?)" "p.(Gln950His)" ""
"0000620456" "00000233" "50" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Thr956Met)" ""
"0000620457" "00000233" "30" "3172" "0" "3172" "0" "c.3172T>C" "r.(?)" "p.(Tyr1058His)" ""
"0000620458" "00000233" "30" "3178" "0" "3178" "0" "c.3178G>C" "r.(?)" "p.(Val1060Leu)" ""
"0000653827" "00000233" "30" "58" "6" "58" "6" "c.58+6A>C" "r.(=)" "p.(=)" ""
"0000653828" "00000233" "30" "245" "-9" "245" "-9" "c.245-9dup" "r.(=)" "p.(=)" ""
"0000653830" "00000233" "30" "1337" "-6" "1337" "-6" "c.1337-6T>A" "r.(=)" "p.(=)" ""
"0000653831" "00000233" "30" "2236" "8" "2236" "8" "c.2236+8T>A" "r.(=)" "p.(=)" ""
"0000675570" "00000233" "50" "584" "0" "584" "0" "c.584A>G" "r.(?)" "p.(Asp195Gly)" ""
"0000675571" "00000233" "50" "1359" "0" "1359" "0" "c.1359A>C" "r.(?)" "p.(Ile453=)" ""
"0000675572" "00000233" "30" "1949" "0" "1949" "0" "c.1949G>T" "r.(?)" "p.(Gly650Val)" ""
"0000675573" "00000233" "30" "2171" "0" "2171" "0" "c.2171C>A" "r.(?)" "p.(Thr724Lys)" ""
"0000675574" "00000233" "30" "2247" "0" "2247" "0" "c.2247A>G" "r.(?)" "p.(Lys749=)" ""
"0000675575" "00000233" "30" "2278" "0" "2278" "0" "c.2278A>T" "r.(?)" "p.(Ile760Leu)" ""
"0000675576" "00000233" "30" "3172" "0" "3172" "0" "c.3172T>C" "r.(?)" "p.(Tyr1058His)" ""
"0000675577" "00000233" "30" "3178" "0" "3178" "0" "c.3178G>C" "r.(?)" "p.(Val1060Leu)" ""
"0000687958" "00000233" "30" "245" "-9" "245" "-9" "c.245-9del" "r.(=)" "p.(=)" ""
"0000687959" "00000233" "50" "357" "0" "357" "0" "c.357A>G" "r.(?)" "p.(Gln119=)" ""
"0000687960" "00000233" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Asp130Asn)" ""
"0000687961" "00000233" "50" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" ""
"0000687962" "00000233" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Cys569=)" ""
"0000717043" "00000233" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Ile)" ""
"0000717044" "00000233" "50" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" ""
"0000717046" "00000233" "50" "1419" "0" "1419" "0" "c.1419G>A" "r.(?)" "p.(Ala473=)" ""
"0000717047" "00000233" "30" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Asp693Asn)" ""
"0000717048" "00000233" "30" "3625" "0" "3625" "0" "c.3625T>A" "r.(?)" "p.(Ser1209Thr)" ""
"0000763712" "00000233" "50" "518" "0" "518" "0" "c.518C>G" "r.(?)" "p.(Ala173Gly)" ""
"0000763764" "00000233" "90" "2850" "0" "2850" "0" "c.2850G>T" "r.(?)" "p.(Gln950His)" ""
"0000764584" "00000233" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Ile)" "2"
"0000764585" "00000233" "90" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(His402Tyr)" "9"
"0000785575" "00000233" "50" "3172" "0" "3172" "0" "c.3172T>C" "r.(?)" "p.(Tyr1058His)" ""
"0000785576" "00000233" "50" "3178" "0" "3178" "0" "c.3178G>C" "r.(?)" "p.(Val1060Leu)" ""
"0000785602" "00000233" "90" "101" "0" "101" "0" "c.101C>G" "r.(?)" "p.(Thr34Arg)" ""
"0000788350" "00000233" "50" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(His651Tyr)" "13"
"0000789707" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789708" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789709" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789710" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789712" "00000233" "30" "1204" "0" "1204" "0" "c.1204T>C" "r.(?)" "p.(=)" "9"
"0000789713" "00000233" "30" "1204" "0" "1204" "0" "c.1204T>C" "r.(?)" "p.(=)" "9"
"0000789715" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789716" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789717" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789718" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789719" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789720" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789721" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789722" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789723" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789724" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789725" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789726" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789727" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000789728" "00000233" "30" "1204" "0" "1204" "0" "c.1204T" "r.(?)" "p.(=)" "9"
"0000791684" "00000233" "70" "2247" "0" "2252" "0" "c.2247_2252del" "r.(?)" "p.(Leu750_Lys751del)" ""
"0000798961" "00000233" "50" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Leu3Val)" ""
"0000798962" "00000233" "30" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Thr95=)" ""
"0000798963" "00000233" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Glu116=)" ""
"0000798964" "00000233" "90" "428" "-2" "428" "-2" "c.428-2A>G" "r.spl?" "p.?" ""
"0000798965" "00000233" "30" "481" "0" "481" "0" "c.481G>T" "r.(?)" "p.(Ala161Ser)" ""
"0000798966" "00000233" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Cys569=)" ""
"0000798967" "00000233" "50" "1792" "0" "1792" "0" "c.1792A>C" "r.(?)" "p.(Lys598Gln)" ""
"0000798968" "00000233" "30" "2076" "0" "2076" "0" "c.2076A>G" "r.(?)" "p.(Gly692=)" ""
"0000798969" "00000233" "50" "3234" "0" "3234" "0" "c.3234G>T" "r.(?)" "p.(Arg1078Ser)" ""
"0000798971" "00000233" "70" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Arg1210Cys)" ""
"0000848434" "00000233" "30" "58" "22" "58" "23" "c.58+22_58+23del" "r.(=)" "p.(=)" ""
"0000848435" "00000233" "50" "124" "0" "124" "0" "c.124T>G" "r.(?)" "p.(Tyr42Asp)" ""
"0000848436" "00000233" "50" "341" "0" "341" "0" "c.341G>A" "r.(?)" "p.(Cys114Tyr)" ""
"0000848437" "00000233" "10" "1159" "19" "1159" "19" "c.1159+19T>G" "r.(=)" "p.(=)" ""
"0000848439" "00000233" "50" "3109" "0" "3109" "0" "c.3109T>A" "r.(?)" "p.(Trp1037Arg)" ""
"0000848440" "00000233" "30" "3207" "0" "3207" "0" "c.3207T>C" "r.(?)" "p.(Ser1069=)" ""
"0000857186" "00000233" "30" "477" "0" "477" "0" "c.477T>C" "r.(?)" "p.(Ser159=)" ""
"0000857187" "00000233" "50" "481" "0" "481" "0" "c.481G>T" "r.(?)" "p.(Ala161Ser)" ""
"0000857188" "00000233" "50" "1548" "0" "1548" "0" "c.1548T>A" "r.(?)" "p.(Asn516Lys)" ""
"0000857189" "00000233" "50" "1565" "0" "1565" "0" "c.1565A>G" "r.(?)" "p.(Asp522Gly)" ""
"0000857190" "00000233" "30" "1696" "2019" "1696" "2019" "c.1696+2019G>A" "r.(=)" "p.(=)" ""
"0000857191" "00000233" "30" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Thr956Met)" ""
"0000857192" "00000233" "30" "3172" "0" "3172" "0" "c.3172T>C" "r.(?)" "p.(Tyr1058His)" ""
"0000857193" "00000233" "30" "3178" "0" "3178" "0" "c.3178G>C" "r.(?)" "p.(Val1060Leu)" ""
"0000873518" "00000233" "70" "3566" "0" "3566" "0" "c.3566T>G" "r.(?)" "p.(Leu1189Arg)" ""
"0000873574" "00000233" "70" "3643" "0" "3643" "0" "c.3643C>G" "r.(?)" "p.(Arg1215Gly)" ""
"0000874004" "00000233" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(His402Tyr)" "104"
"0000882987" "00000233" "30" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Leu3Val)" ""
"0000882988" "00000233" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Arg53Leu)" ""
"0000882989" "00000233" "50" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Ser58Ala)" ""
"0000882990" "00000233" "70" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81*)" ""
"0000882991" "00000233" "90" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Gln81*)" ""
"0000882992" "00000233" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Ser193Leu)" ""
"0000882993" "00000233" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Asp194=)" ""
"0000882994" "00000233" "70" "901" "0" "901" "0" "c.901del" "r.(?)" "p.(Ala301Glnfs*22)" ""
"0000882995" "00000233" "50" "908" "0" "908" "0" "c.908G>A" "r.(?)" "p.(Arg303Gln)" ""
"0000882996" "00000233" "70" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Gln408Ter)" ""
"0000882997" "00000233" "30" "2236" "8" "2236" "8" "c.2236+8T>A" "r.(=)" "p.(=)" ""
"0000882998" "00000233" "70" "2273" "0" "2277" "0" "c.2273_2277del" "r.(?)" "p.(Leu758Tyrfs*3)" ""
"0000882999" "00000233" "90" "2273" "0" "2277" "0" "c.2273_2277del" "r.(?)" "p.(Leu758Tyrfs*3)" ""
"0000883000" "00000233" "30" "2414" "-3" "2414" "-3" "c.2414-3T>C" "r.spl?" "p.?" ""
"0000883001" "00000233" "50" "2770" "0" "2770" "0" "c.2770C>A" "r.(?)" "p.(Pro924Thr)" ""
"0000883002" "00000233" "30" "2957" "-7" "2957" "-7" "c.2957-7A>G" "r.(=)" "p.(=)" ""
"0000883003" "00000233" "10" "3050" "0" "3050" "0" "c.3050C>T" "r.(?)" "p.(Thr1017Ile)" ""
"0000883004" "00000233" "30" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Asn1034=)" ""
"0000883005" "00000233" "90" "3628" "0" "3628" "0" "c.3628C>T" "r.(?)" "p.(Arg1210Cys)" ""
"0000910866" "00000233" "30" "245" "-9" "245" "-9" "c.245-9del" "r.(=)" "p.(=)" ""
"0000910867" "00000233" "30" "350" "9" "350" "9" "c.350+9T>C" "r.(=)" "p.(=)" ""
"0000910868" "00000233" "30" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" ""
"0000910869" "00000233" "30" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Val641Ala)" ""
"0000910870" "00000233" "90" "2748" "0" "2748" "0" "c.2748C>G" "r.(?)" "p.(Tyr916Ter)" ""
"0000910871" "00000233" "30" "2768" "0" "2768" "0" "c.2768C>T" "r.(?)" "p.(Pro923Leu)" ""
"0000910872" "00000233" "50" "3271" "0" "3271" "0" "c.3271T>A" "r.(?)" "p.(Cys1091Ser)" ""
"0000910873" "00000233" "30" "3311" "-7" "3311" "-7" "c.3311-7T>C" "r.(=)" "p.(=)" ""
"0000923026" "00000233" "30" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Ile49Val)" ""
"0000923027" "00000233" "30" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Thr95=)" ""
"0000923028" "00000233" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Glu116=)" ""
"0000923029" "00000233" "70" "691" "0" "691" "0" "c.691G>T" "r.(?)" "p.(Glu231*)" ""
"0000923030" "00000233" "30" "964" "9" "964" "9" "c.964+9C>T" "r.(=)" "p.(=)" ""
"0000923031" "00000233" "30" "1548" "0" "1548" "0" "c.1548T>A" "r.(?)" "p.(Asn516Lys)" ""
"0000923032" "00000233" "50" "1736" "0" "1736" "0" "c.1736T>C" "r.(?)" "p.(Val579Ala)" ""
"0000923033" "00000233" "50" "2669" "0" "2669" "0" "c.2669G>C" "r.(?)" "p.(Ser890Thr)" ""
"0000928081" "00000233" "50" "124" "0" "124" "0" "c.124T>G" "r.(?)" "p.(Tyr42Asp)" ""
"0000928082" "00000233" "30" "1418" "0" "1418" "0" "c.1418C>T" "r.(?)" "p.(Ala473Val)" ""
"0000928083" "00000233" "50" "2039" "0" "2039" "0" "c.2039C>A" "r.(?)" "p.(Thr680Asn)" ""
"0000928084" "00000233" "30" "2153" "0" "2153" "0" "c.2153A>G" "r.(?)" "p.(Asn718Ser)" ""
"0000928085" "00000233" "30" "3318" "0" "3318" "0" "c.3318A>G" "r.(?)" "p.(=)" ""
"0000947073" "00000233" "90" "1139" "0" "1139" "0" "c.1139C>A" "r.(?)" "p.(Ser380*)" ""
"0000947074" "00000233" "10" "3102" "0" "3102" "0" "c.3102T>C" "r.(?)" "p.(Asn1034=)" ""
"0000947075" "00000233" "50" "3329" "0" "3329" "0" "c.3329G>C" "r.(?)" "p.(Gly1110Ala)" ""
"0000960699" "00000233" "70" "157" "0" "157" "0" "c.157C>T" "r.(?)" "p.(Arg53Cys)" ""
"0000960703" "00000233" "50" "567" "0" "567" "0" "c.567A>G" "r.(?)" "p.(=)" ""
"0000960704" "00000233" "30" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Ile221Val)" ""
"0000960705" "00000233" "50" "779" "0" "779" "0" "c.779C>A" "r.(?)" "p.(Pro260His)" ""
"0000960707" "00000233" "30" "3134" "-5" "3134" "-5" "c.3134-5T>C" "r.spl?" "p.?" ""
"0000960708" "00000233" "10" "3138" "0" "3138" "0" "c.3138C>T" "r.(?)" "p.(Thr1046=)" ""
"0000960709" "00000233" "50" "3325" "0" "3325" "0" "c.3325T>C" "r.(?)" "p.(Cys1109Arg)" ""
"0000973525" "00000233" "30" "245" "-9" "245" "-9" "c.245-9del" "r.(=)" "p.(=)" ""
"0000973526" "00000233" "50" "1319" "0" "1319" "0" "c.1319C>T" "r.(?)" "p.(Pro440Leu)" ""
"0000987152" "00000233" "70" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Asp20Asn)" ""
"0000990666" "00000233" "10" "245" "-10" "245" "-9" "c.245-10_245-9dup" "r.(=)" "p.(=)" ""
"0000990667" "00000233" "50" "481" "0" "481" "0" "c.481G>T" "r.(?)" "p.(Ala161Ser)" ""
"0000990668" "00000233" "50" "647" "0" "647" "0" "c.647T>C" "r.(?)" "p.(Ile216Thr)" ""
"0000990669" "00000233" "50" "1198" "0" "1198" "0" "c.1198C>A" "r.(?)" "p.(Gln400Lys)" ""
"0000990670" "00000233" "30" "1423" "0" "1423" "0" "c.1423T>C" "r.(?)" "p.(Tyr475His)" ""
"0000990671" "00000233" "30" "1922" "0" "1922" "0" "c.1922T>C" "r.(?)" "p.(Val641Ala)" ""
"0000990672" "00000233" "90" "2034" "0" "2034" "0" "c.2034G>T" "r.(?)" "p.(Trp678Cys)" ""
"0000990673" "00000233" "50" "2171" "0" "2171" "0" "c.2171C>A" "r.(?)" "p.(Thr724Lys)" ""
"0000990674" "00000233" "50" "2195" "0" "2195" "0" "c.2195C>T" "r.(?)" "p.(Thr732Met)" ""
"0000990675" "00000233" "90" "2572" "0" "2572" "0" "c.2572T>A" "r.(?)" "p.(Trp858Arg)" ""
"0000990676" "00000233" "50" "2602" "0" "2602" "0" "c.2602A>T" "r.(?)" "p.(Ile868Phe)" ""
"0000990677" "00000233" "50" "2681" "0" "2681" "0" "c.2681G>A" "r.(?)" "p.(Gly894Glu)" ""
"0000990678" "00000233" "30" "3647" "0" "3647" "0" "c.3647C>A" "r.(?)" "p.(Thr1216Lys)" ""
"0001013257" "00000233" "50" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" ""
"0001013258" "00000233" "30" "3172" "0" "3172" "0" "c.3172T>C" "r.(?)" "p.(Tyr1058His)" ""
"0001013259" "00000233" "30" "3178" "0" "3178" "0" "c.3178G>C" "r.(?)" "p.(Val1060Leu)" ""
"0001024083" "00000233" "70" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127Cys)" ""
"0001031557" "00000233" "50" "3291" "0" "3291" "0" "c.3291G>A" "r.(?)" "p.(=)" ""
"0001045619" "00000233" "50" "526" "0" "526" "0" "c.526T>C" "r.(?)" "p.(Phe176Leu)" ""
"0001045620" "00000233" "50" "544" "0" "544" "0" "c.544T>C" "r.(?)" "p.(Tyr182His)" ""
"0001045621" "00000233" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Cys569=)" ""
"0001045622" "00000233" "90" "1778" "0" "1778" "0" "c.1778T>A" "r.(?)" "p.(Leu593*)" ""
"0001045623" "00000233" "70" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Cys853Tyr)" ""
"0001045624" "00000233" "50" "2753" "0" "2753" "0" "c.2753G>A" "r.(?)" "p.(Gly918Glu)" ""
"0001045625" "00000233" "30" "2784" "0" "2784" "0" "c.2784C>A" "r.(?)" "p.(=)" ""
"0001050384" "00000233" "50" "124" "0" "124" "0" "c.124T>G" "r.(?)" "p.(Tyr42Asp)" ""
"0001050385" "00000233" "30" "627" "0" "627" "0" "c.627A>G" "r.(?)" "p.(=)" ""
"0001050386" "00000233" "30" "774" "0" "774" "0" "c.774G>C" "r.(?)" "p.(=)" ""
"0001050387" "00000233" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Ala382Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 40
"{{screeningid}}" "{{variantid}}"
"0000033229" "0000059781"
"0000033229" "0000059782"
"0000181317" "0000405013"
"0000181318" "0000405014"
"0000181319" "0000405015"
"0000181320" "0000405016"
"0000181469" "0000405165"
"0000363228" "0000763712"
"0000363234" "0000763764"
"0000363881" "0000764584"
"0000363882" "0000764585"
"0000374744" "0000785575"
"0000374744" "0000785576"
"0000374762" "0000785602"
"0000376622" "0000788350"
"0000377387" "0000789707"
"0000377388" "0000789708"
"0000377389" "0000789709"
"0000377390" "0000789710"
"0000377392" "0000789712"
"0000377393" "0000789713"
"0000377395" "0000789715"
"0000377396" "0000789716"
"0000377397" "0000789717"
"0000377398" "0000789718"
"0000377399" "0000789719"
"0000377400" "0000789720"
"0000377401" "0000789721"
"0000377402" "0000789722"
"0000377403" "0000789723"
"0000377404" "0000789724"
"0000377405" "0000789725"
"0000377406" "0000789726"
"0000377407" "0000789727"
"0000377408" "0000789728"
"0000378791" "0000791684"
"0000415670" "0000873518"
"0000415709" "0000873574"
"0000416059" "0000874004"
"0000452807" "0000987152"