### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC4A11) # 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}}" "SLC4A11" "solute carrier family 4, sodium borate transporter, member 11" "20" "p13" "unknown" "NG_017072.1" "UD_132118669186" "" "https://www.LOVD.nl/SLC4A11" "" "1" "16438" "83959" "610206" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-06 15:30:10" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00019020" "SLC4A11" "transcript variant 3" "001" "NM_001174089.1" "" "NP_001167560.1" "" "" "" "-104" "2998" "2628" "3219887" "3208063" "" "0000-00-00 00:00:00" "" "" "00025340" "SLC4A11" "transcript variant 2" "006" "NM_032034.3" "" "NP_114423.1" "" "" "" "-48" "3046" "2676" "3218373" "3208063" "00008" "2018-11-13 13:26:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01338" "FECD1" "dystrophy, corneal, Fuchs endothelial, type 1 (FECD-1)" "AD" "136800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01720" "CDPD" "dystrophy, corneal, endothelial, and perceptive deafness" "AR" "217400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01721" "CHED" "dystrophy, corneal, endothelial" "AR" "217700" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:48:05" "01814" "GLC3A" "glaucoma, congenital, primary, type 3A (GLC-3A)" "AR" "231300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03296" "FECD4" "dystrophy, corneal, Fuchs endothelial, type 4" "" "613268" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-22 16:48:40" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SLC4A11" "01720" "SLC4A11" "01721" "SLC4A11" "03296" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{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}}" "00206355" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2009:19369245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206356" "" "" "" "1" "" "00000" "" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206357" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2009:19369245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206358" "" "" "" "1" "" "00000" "{PMID:Vithana 2008:18024964}" "" "" "" "" "" "0" "" "" "Chinese" "" "00206359" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206360" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206361" "" "" "" "1" "" "00000" "{PMID:Mehta 2010:20118786}" "" "F" "" "India" "" "0" "" "" "" "" "00206362" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206363" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2009:19369245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206364" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206365" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206366" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206367" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206368" "" "" "" "1" "" "00000" "{PMID:Aldave 2007:17667634}" "" "M" "" "" "" "0" "" "" "Chinese" "" "00206369" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206370" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206371" "" "" "" "1" "" "00000" "{PMID:Shah 2008:18363173}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206372" "" "" "" "1" "" "00000" "{PMID:Riazuddin 2010:20848555}" "" "" "" "" "" "0" "" "" "" "" "00206373" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00206374" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206375" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "India" "" "0" "" "" "" "" "00206376" "" "" "" "1" "" "00000" "{PMID:Vithana 2008:18024964}" "" "" "" "" "" "0" "" "" "Indian" "" "00206377" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "Dominican Republic" "" "00206378" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "Morocco" "" "00206379" "" "" "" "1" "" "00000" "{PMID:Riazuddin 2010:20848555}" "" "" "" "" "" "0" "" "" "" "" "00206380" "" "" "" "1" "" "00000" "{PMID:Vithana 2008:18024964}" "" "" "" "" "" "0" "" "" "" "" "00206381" "" "" "" "1" "" "00000" "{PMID:Vithana 2008:18024964}" "" "" "" "" "" "0" "" "" "" "" "00206382" "" "" "" "1" "" "00000" "{PMID:Riazuddin 2010:20848555}" "" "" "" "" "" "0" "" "" "" "" "00206383" "" "" "" "1" "" "00000" "{PMID:Riazuddin 2010:20848555}" "" "" "" "" "" "0" "" "" "" "" "00206384" "" "" "" "1" "" "00000" "{PMID:Mehta 2010:20118786}" "" "" "" "India" "" "0" "" "" "" "" "00206385" "" "" "" "1" "" "00000" "{PMID:Mehta 2010:20118786}" "" "M" "" "India" "" "0" "" "" "" "" "00206386" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "India" "" "0" "" "" "" "" "00206387" "" "" "" "1" "" "00000" "{PMID:Vithana 2008:18024964}" "" "" "" "China" "" "0" "" "" "Chinese" "" "00206388" "" "" "" "1" "" "00000" "{PMID:Riazuddin 2010:20848555}" "" "" "" "" "" "0" "" "" "" "" "00206389" "" "" "" "1" "" "00000" "{PMID:Paliwal 2010:21203343}" "" "" "" "India" "" "0" "" "" "" "" "00206390" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "India" "" "0" "" "" "White Britsih" "" "00206391" "" "" "" "1" "" "00000" "{PMID:Vithana 2008:18024964}" "" "" "" "" "" "0" "" "" "Chinese" "" "00206392" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206393" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206394" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206395" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "" "" "0" "" "" "White British" "" "00206396" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "The Netherlands" "" "00206397" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "India" "" "00206398" "" "" "" "1" "" "00000" "{PMID:Riazuddin 2010:20848555}" "" "" "" "" "" "0" "" "" "" "" "00206399" "" "" "" "1" "" "00000" "{PMID:Paliwal 2010:21203343}" "" "F" "" "India" "" "0" "" "" "" "" "00206400" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "Jewish-Sephardic" "" "00206401" "" "" "" "1" "" "00000" "{PMID:Hemadevi 2008:18474783}" "" "" "" "India" "" "0" "" "" "" "" "00206402" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "India" "" "0" "" "" "" "" "00206403" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "India" "" "0" "" "" "" "" "00206404" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "Eastern European" "" "00206405" "" "" "" "1" "" "00243" "" "" "M" "no" "India" "" "0" "" "" "Indian" "" "00206406" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2009:19369245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206407" "" "" "" "1" "" "00000" "{PMID:Aldahmesh 2009:19369245}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "" "00206408" "" "" "" "1" "" "00243" "" "" "M" "no" "India" "" "0" "" "" "Indian" "" "00206409" "" "" "" "2" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00206410" "" "" "" "3" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00206411" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "India" "" "0" "" "" "" "" "00206412" "" "" "" "2" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00206413" "" "" "" "1" "" "00243" "" "" "F" "no" "India" "" "0" "" "" "Indian" "" "00206414" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "India" "" "0" "" "" "" "" "00206415" "" "" "" "1" "" "00000" "{PMID:Desir 2007:17220209}" "" "" "" "" "" "0" "" "" "South American Indian" "" "00206416" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "India" "" "0" "" "" "" "" "00206417" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "(Myanmar)" "" "0" "" "" "" "" "00206418" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "India" "" "0" "" "" "" "" "00206419" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "India" "" "0" "" "" "" "" "00206420" "" "" "" "1" "" "00000" "{PMID:Vithana 2006:16767101}" "" "" "" "India" "" "0" "" "" "" "" "00206421" "" "" "" "1" "" "00000" "{PMID:Ramprasad 2007:17397048}" "" "" "" "" "" "0" "" "" "Middle Eastern" "" "00218379" "" "" "" "1" "" "02112" "" "" "M" "no" "Czech Republic" "07y" "0" "" "" "white" "C2-464" "00218380" "" "" "" "1" "" "02112" "" "" "F" "no" "Czech Republic" "37y" "0" "" "" "white" "C4-1017" "00218381" "" "" "" "1" "" "02112" "" "" "M" "no" "Czech Republic" "13y" "0" "" "" "" "C5-1169" "00218382" "" "" "" "1" "" "02112" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "B2-205" "00292914" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292915" "" "" "" "157" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292916" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292917" "" "" "" "122" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304852" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304853" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331855" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "10DG0156" "00382121" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "322" "00434206" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam16PatI" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 80 "{{individualid}}" "{{diseaseid}}" "00206355" "01721" "00206356" "01721" "00206357" "01721" "00206358" "01338" "00206359" "01338" "00206360" "01338" "00206361" "01721" "00206362" "01721" "00206363" "01721" "00206364" "01721" "00206365" "01721" "00206366" "01338" "00206367" "01721" "00206368" "01721" "00206369" "01721" "00206370" "01721" "00206371" "01721" "00206372" "01338" "00206373" "01338" "00206374" "01721" "00206375" "01721" "00206376" "01338" "00206377" "00198" "00206378" "00198" "00206379" "01338" "00206380" "01338" "00206381" "01338" "00206382" "01338" "00206383" "01338" "00206384" "01721" "00206385" "01721" "00206386" "01721" "00206387" "01338" "00206388" "01338" "00206389" "01721" "00206390" "01721" "00206391" "01338" "00206392" "01721" "00206393" "01721" "00206394" "01721" "00206395" "01721" "00206396" "00198" "00206397" "00198" "00206398" "01338" "00206399" "01721" "00206400" "00198" "00206401" "01721" "00206402" "01721" "00206403" "01721" "00206404" "00198" "00206405" "01338" "00206406" "01721" "00206407" "01721" "00206408" "01338" "00206409" "01721" "00206410" "01721" "00206411" "01721" "00206412" "01721" "00206413" "01338" "00206414" "01721" "00206415" "00198" "00206416" "01721" "00206417" "01721" "00206418" "01721" "00206419" "01721" "00206420" "01721" "00206421" "01721" "00218379" "01721" "00218380" "01721" "00218381" "01721" "00218382" "01721" "00292914" "00198" "00292915" "00198" "00292916" "00198" "00292917" "00198" "00304852" "00198" "00304853" "00198" "00331855" "04214" "00382121" "01814" "00434206" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01338, 01720, 01721, 01814, 03296, 04214 ## Count = 31 "{{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}}" "0000154400" "01721" "00206361" "00000" "-" "" "" "7y" "" "" "" "" "" "" "" "" "" "" "0000154401" "01721" "00206362" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154402" "01721" "00206364" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154403" "01721" "00206365" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154404" "01721" "00206367" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154405" "01721" "00206368" "00000" "-" "" "" "16y" "" "" "" "" "" "" "" "" "" "" "0000154406" "01721" "00206369" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154407" "01721" "00206370" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154408" "01721" "00206374" "00000" "-" "" "" "5y" "" "" "" "" "" "" "" "" "" "" "0000154409" "00198" "00206377" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000154410" "00198" "00206378" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000154411" "01338" "00206380" "00000" "-" "" "None" "" "" "" "" "" "" "" "" "" "" "" "0000154412" "01721" "00206385" "00000" "-" "" "" "4y" "" "" "" "" "" "" "" "" "" "" "0000154413" "01338" "00206387" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154414" "01338" "00206391" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154415" "01721" "00206392" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154416" "01721" "00206393" "00000" "-" "" "" "3y" "" "" "" "" "" "" "" "" "" "" "0000154417" "01721" "00206394" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154418" "00198" "00206396" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000154419" "00198" "00206397" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000154420" "01721" "00206399" "00000" "-" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000154421" "00198" "00206400" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000154422" "01721" "00206401" "00000" "-" "" "" "0y0m0d" "" "" "" "" "" "" "" "" "" "" "0000154423" "00198" "00206404" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000154424" "01338" "00206405" "00243" "Isolated (sporadic)" "" "" "" "46y" "" "" "" "" "" "" "" "" "" "0000154425" "01338" "00206408" "00243" "Isolated (sporadic)" "" "" "?" "61y" "?" "" "" "" "" "" "" "" "" "0000154426" "01338" "00206413" "00243" "Isolated (sporadic)" "" "" "" "69y" "" "" "" "" "" "" "" "" "" "0000154427" "00198" "00206415" "00000" "-" "" "Corneal dystrophy and sensorineural deafness (Harboyan Syndrome)" "" "" "" "" "" "" "" "" "" "" "" "0000250047" "04214" "00331855" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000275963" "01814" "00382121" "00000" "Familial, autosomal recessive" "" "anterior segment developmental anomalies including glaucoma; MIM, 217700 or 217400" "" "" "" "" "" "" "" "" "" "MIM, 217700 or 217400" "" "0000324564" "00198" "00434206" "00006" "Familial, autosomal recessive" "2y" "congenital corneal dystrophy" "" "" "" "" "" "" "" "" "CHED" "congenital hereditary endothelial dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000207387" "00206355" "1" "00000" "03079" "2012-01-06 17:38:03" "" "" "SEQ" "DNA" "" "" "0000207388" "00206356" "1" "00000" "03079" "2012-01-06 17:40:16" "" "" "SEQ" "DNA" "" "" "0000207389" "00206357" "1" "00000" "03079" "2012-01-06 17:43:01" "" "" "SEQ" "DNA" "" "" "0000207390" "00206358" "1" "00000" "03079" "2012-01-05 19:45:20" "" "" "SEQ" "DNA" "" "" "0000207391" "00206359" "1" "00000" "03079" "2012-01-05 21:00:56" "" "" "SEQ" "DNA" "" "" "0000207392" "00206360" "1" "00000" "03079" "2012-01-05 21:29:02" "" "" "SEQ" "DNA" "" "" "0000207393" "00206361" "1" "00000" "03079" "2012-01-05 22:28:26" "" "" "SEQ" "DNA" "" "" "0000207394" "00206362" "1" "00000" "03079" "2012-01-05 23:04:18" "" "" "SEQ" "DNA" "" "" "0000207395" "00206363" "1" "00000" "03079" "2012-01-06 17:01:36" "" "" "SEQ" "DNA" "" "" "0000207396" "00206364" "1" "00000" "03079" "2012-01-05 22:50:15" "" "" "SEQ" "DNA" "" "" "0000207397" "00206365" "1" "00000" "03079" "2012-01-05 22:59:33" "" "" "SEQ" "DNA" "" "" "0000207398" "00206366" "1" "00000" "03079" "2012-01-05 21:41:12" "" "" "SEQ" "DNA" "" "" "0000207399" "00206367" "1" "00000" "03079" "2012-01-05 22:40:20" "" "" "SEQ" "DNA" "" "" "0000207400" "00206368" "1" "00000" "03079" "2012-01-05 22:18:30" "03079" "2012-01-06 18:05:10" "SEQ" "DNA" "" "" "0000207401" "00206369" "1" "00000" "03079" "2012-01-05 22:57:37" "" "" "SEQ" "DNA" "" "" "0000207402" "00206370" "1" "00000" "03079" "2012-01-05 23:06:14" "" "" "SEQ" "DNA" "" "" "0000207403" "00206371" "1" "00000" "03079" "2012-01-06 18:02:31" "" "" "SEQ" "DNA" "" "" "0000207404" "00206372" "1" "00000" "03079" "2012-01-05 21:43:41" "" "" "SEQ" "DNA" "" "" "0000207405" "00206373" "1" "00000" "03079" "2012-01-05 21:32:19" "" "" "SEQ" "DNA" "" "" "0000207406" "00206374" "1" "00000" "03079" "2012-01-05 23:01:21" "03079" "2012-01-05 23:02:38" "SEQ" "DNA" "" "" "0000207407" "00206375" "1" "00000" "03079" "2012-01-05 23:16:45" "" "" "SEQ" "DNA" "" "" "0000207408" "00206376" "1" "00000" "03079" "2012-01-05 19:47:53" "" "" "SEQ" "DNA" "" "" "0000207409" "00206377" "1" "00000" "03079" "2012-01-05 23:46:08" "" "" "SEQ" "DNA" "" "" "0000207410" "00206378" "1" "00000" "03079" "2012-01-05 23:48:17" "" "" "SEQ" "DNA" "" "" "0000207411" "00206379" "1" "00000" "03079" "2012-01-05 21:45:14" "" "" "SEQ" "DNA" "" "" "0000207412" "00206380" "1" "00000" "03079" "2012-01-05 21:34:52" "" "" "SEQ" "DNA" "" "" "0000207413" "00206381" "1" "00000" "03079" "2012-01-05 21:25:06" "" "" "SEQ" "DNA" "" "" "0000207414" "00206382" "1" "00000" "03079" "2012-01-05 21:49:52" "" "" "SEQ" "DNA" "" "" "0000207415" "00206383" "1" "00000" "03079" "2012-01-05 21:51:39" "" "" "SEQ" "DNA" "" "" "0000207416" "00206384" "1" "00000" "03079" "2012-01-05 22:25:51" "" "" "SEQ" "DNA" "" "" "0000207417" "00206385" "1" "00000" "03079" "2012-01-05 22:33:04" "" "" "SEQ" "DNA" "" "" "0000207418" "00206386" "1" "00000" "03079" "2012-01-05 19:22:55" "" "" "SEQ" "DNA" "" "" "0000207419" "00206387" "1" "00000" "03079" "2012-01-05 19:34:53" "" "" "SEQ" "DNA" "" "" "0000207420" "00206388" "1" "00000" "03079" "2012-01-05 21:53:04" "" "" "SEQ" "DNA" "" "" "0000207421" "00206389" "1" "00000" "03079" "2012-01-05 22:05:33" "" "" "SEQ" "DNA" "" "" "0000207422" "00206390" "1" "00000" "03079" "2012-01-05 23:23:23" "03079" "2012-01-05 23:25:37" "SEQ" "DNA" "" "" "0000207423" "00206391" "1" "00000" "03079" "2012-01-05 19:42:31" "" "" "SEQ" "DNA" "" "" "0000207424" "00206392" "1" "00000" "03079" "2012-01-05 23:07:58" "" "" "SEQ" "DNA" "" "" "0000207425" "00206393" "1" "00000" "03079" "2012-01-05 22:43:17" "" "" "SEQ" "DNA" "" "" "0000207426" "00206394" "1" "00000" "03079" "2012-01-05 22:55:38" "" "" "SEQ" "DNA" "" "" "0000207427" "00206395" "1" "00000" "03079" "2012-01-05 23:31:03" "" "" "SEQ" "DNA" "" "" "0000207428" "00206396" "1" "00000" "03079" "2012-01-06 00:02:53" "" "" "SEQ" "DNA" "" "" "0000207429" "00206397" "1" "00000" "03079" "2012-01-06 00:17:47" "" "" "SEQ" "DNA" "" "" "0000207430" "00206398" "1" "00000" "03079" "2012-01-05 21:54:44" "" "" "SEQ" "DNA" "" "" "0000207431" "00206399" "1" "00000" "03079" "2012-01-05 22:10:01" "" "" "SEQ" "DNA" "" "" "0000207432" "00206400" "1" "00000" "03079" "2012-01-06 00:15:40" "" "" "SEQ" "DNA" "" "" "0000207433" "00206401" "1" "00000" "03079" "2012-01-05 22:52:49" "" "" "SEQ" "DNA" "" "" "0000207434" "00206402" "1" "00000" "03079" "2012-01-05 19:03:35" "03079" "2012-01-06 18:12:24" "SEQ" "DNA" "" "" "0000207435" "00206403" "1" "00000" "03079" "2012-01-05 23:14:48" "" "" "SEQ" "DNA" "" "" "0000207436" "00206404" "1" "00000" "03079" "2012-01-05 23:42:11" "" "" "SEQ" "DNA" "" "" "0000207437" "00206405" "1" "00243" "00243" "2013-06-20 12:10:50" "00243" "2013-06-20 12:35:44" "SEQ" "DNA" "" "" "0000207438" "00206406" "1" "00000" "03079" "2012-01-06 17:06:40" "" "" "SEQ" "DNA" "" "" "0000207439" "00206407" "1" "00000" "03079" "2012-01-06 17:09:16" "" "" "SEQ" "DNA" "" "" "0000207440" "00206408" "1" "00243" "00243" "2013-06-20 11:35:13" "00243" "2013-06-20 12:31:06" "SEQ" "DNA" "" "" "0000207441" "00206409" "1" "00000" "03079" "2012-01-05 18:17:22" "" "" "SEQ" "DNA" "" "" "0000207442" "00206410" "1" "00000" "03079" "2012-01-05 18:21:04" "" "" "SEQ" "DNA" "" "" "0000207443" "00206411" "1" "00000" "03079" "2012-01-05 18:28:47" "" "" "SEQ" "DNA" "" "" "0000207444" "00206412" "1" "00000" "03079" "2012-01-05 18:14:01" "" "" "SEQ" "DNA" "" "" "0000207445" "00206413" "1" "00243" "00243" "2013-06-20 11:59:56" "00243" "2013-06-20 12:32:58" "SEQ" "DNA" "" "" "0000207446" "00206414" "1" "00000" "03079" "2012-01-05 18:36:19" "" "" "SEQ" "DNA" "" "" "0000207447" "00206415" "1" "00000" "03079" "2012-01-05 23:59:29" "" "" "SEQ" "DNA" "" "" "0000207448" "00206416" "1" "00000" "03079" "2012-01-05 23:19:24" "" "" "SEQ" "DNA" "" "" "0000207449" "00206417" "1" "00000" "03079" "2012-01-05 18:04:38" "" "" "SEQ" "DNA" "" "" "0000207450" "00206418" "1" "00000" "03079" "2012-01-05 18:32:03" "" "" "SEQ" "DNA" "" "" "0000207451" "00206419" "1" "00000" "03079" "2012-01-05 23:21:23" "" "" "SEQ" "DNA" "" "" "0000207452" "00206420" "1" "00000" "03079" "2012-01-05 19:05:32" "" "" "SEQ" "DNA" "" "" "0000207453" "00206421" "1" "00000" "03079" "2012-01-05 23:33:00" "" "" "SEQ" "DNA" "" "" "0000219449" "00218379" "1" "02112" "02112" "2019-01-25 08:26:28" "" "" "SEQ" "DNA" "blood" "" "0000219450" "00218380" "1" "02112" "02112" "2019-01-25 08:38:56" "" "" "SEQ" "DNA" "blood" "" "0000219451" "00218381" "1" "02112" "02112" "2019-01-25 08:52:22" "" "" "SEQ" "DNA" "blood" "" "0000219452" "00218382" "1" "02112" "02112" "2019-01-25 10:57:31" "" "" "SEQ" "DNA" "blood" "" "0000294082" "00292914" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294083" "00292915" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294084" "00292916" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294085" "00292917" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305981" "00304852" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305982" "00304853" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000333074" "00331855" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" "" "0000383337" "00382121" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000435674" "00434206" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{geneid}}" "0000207387" "SLC4A11" "0000207388" "SLC4A11" "0000207389" "SLC4A11" "0000207390" "SLC4A11" "0000207391" "SLC4A11" "0000207392" "SLC4A11" "0000207393" "SLC4A11" "0000207394" "SLC4A11" "0000207395" "SLC4A11" "0000207396" "SLC4A11" "0000207397" "SLC4A11" "0000207398" "SLC4A11" "0000207399" "SLC4A11" "0000207400" "SLC4A11" "0000207401" "SLC4A11" "0000207402" "SLC4A11" "0000207403" "SLC4A11" "0000207404" "SLC4A11" "0000207405" "SLC4A11" "0000207406" "SLC4A11" "0000207407" "SLC4A11" "0000207408" "SLC4A11" "0000207409" "SLC4A11" "0000207410" "SLC4A11" "0000207411" "SLC4A11" "0000207412" "SLC4A11" "0000207413" "SLC4A11" "0000207414" "SLC4A11" "0000207415" "SLC4A11" "0000207416" "SLC4A11" "0000207417" "SLC4A11" "0000207418" "SLC4A11" "0000207419" "SLC4A11" "0000207420" "SLC4A11" "0000207421" "SLC4A11" "0000207422" "SLC4A11" "0000207423" "SLC4A11" "0000207424" "SLC4A11" "0000207425" "SLC4A11" "0000207426" "SLC4A11" "0000207427" "SLC4A11" "0000207428" "SLC4A11" "0000207429" "SLC4A11" "0000207430" "SLC4A11" "0000207431" "SLC4A11" "0000207432" "SLC4A11" "0000207433" "SLC4A11" "0000207434" "SLC4A11" "0000207435" "SLC4A11" "0000207436" "SLC4A11" "0000207437" "SLC4A11" "0000207438" "SLC4A11" "0000207439" "SLC4A11" "0000207440" "SLC4A11" "0000207441" "SLC4A11" "0000207442" "SLC4A11" "0000207443" "SLC4A11" "0000207444" "SLC4A11" "0000207445" "SLC4A11" "0000207446" "SLC4A11" "0000207447" "SLC4A11" "0000207448" "SLC4A11" "0000207449" "SLC4A11" "0000207450" "SLC4A11" "0000207451" "SLC4A11" "0000207452" "SLC4A11" "0000207453" "SLC4A11" "0000219449" "SLC4A11" "0000219450" "SLC4A11" "0000219451" "SLC4A11" "0000219452" "SLC4A11" "0000333074" "SLC4A11" "0000383337" "SLC4A11" ## 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 = 159 "{{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}}" "0000298314" "0" "10" "20" "3211719" "3211719" "subst" "0.453036" "02325" "SLC4A11_000075" "g.3211719T>G" "" "" "" "SLC4A11(NM_001174090.2):c.1172-15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3231073T>G" "" "benign" "" "0000298315" "0" "10" "20" "3209371" "3209371" "subst" "0.442583" "02325" "SLC4A11_000072" "g.3209371G>A" "" "" "" "SLC4A11(NM_001174090.2):c.2322-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3228725G>A" "" "benign" "" "0000308464" "0" "30" "20" "3210190" "3210190" "subst" "0.0031863" "01943" "SLC4A11_000074" "g.3210190G>C" "" "" "" "SLC4A11(NM_001174090.1):c.1851C>G (p.T617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3229544G>C" "" "likely benign" "" "0000308465" "0" "30" "20" "3218307" "3218307" "subst" "0.000345385" "01943" "SLC4A11_000076" "g.3218307G>A" "" "" "" "SLC4A11(NM_032034.3):c.19C>T (p.R7W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3237661G>A" "" "likely benign" "" "0000308466" "0" "30" "20" "3209749" "3209749" "subst" "4.28057E-6" "01943" "SLC4A11_000073" "g.3209749C>T" "" "" "" "SLC4A11(NM_001174090.1):c.2139G>A (p.P713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3229103C>T" "" "likely benign" "" "0000308467" "0" "30" "20" "3209254" "3209254" "subst" "0.00131767" "01943" "SLC4A11_000071" "g.3209254G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2421C>T (p.P807=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3228608G>A" "" "likely benign" "" "0000346250" "0" "50" "20" "3209500" "3209500" "subst" "0.000317298" "02327" "SLC4A11_000077" "g.3209500C>T" "" "" "" "SLC4A11(NM_001174089.2):c.2176G>A (p.(Gly726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3228854C>T" "" "VUS" "" "0000437036" "3" "77" "20" "0" "0" "" "0" "00000" "SLC4A11_000064" "g.?" "" "{PMID:Aldahmesh 2009:19369245}" "" "c.1044+25del19nucleotides" "Disruption of intron in conserved sequence possibly altering function of splice enhancer" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000437037" "3" "99" "20" "0" "0" "" "0" "00000" "SLC4A11_000065" "g.?" "" "{PMID:Aldahmesh 2009:19369245}" "" "c.2236C>T; Arg757X" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437038" "3" "99" "20" "0" "0" "" "0" "00000" "SLC4A11_000066" "g.?" "" "{PMID:Aldahmesh 2009:19369245}" "" "c.2114+1G>A" "Donor splice site. Results in inclusion of intron 15." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437039" "0" "99" "20" "3218229" "3218230" "del" "0" "00000" "SLC4A11_000013" "g.3218229_3218230del" "" "{PMID:Vithana 2008:18024964}" "" "c.99-100delTC; Ser33SerfsX18" "" "Unknown" "" "" "0" "" "" "g.3237583_3237584del" "" "pathogenic" "" "0000437040" "0" "35" "20" "3215462" "3215462" "subst" "3.65473E-5" "00000" "SLC4A11_000015" "g.3215462T>G" "0.008" "{PMID:Vithana 2008:18024964}" "" "" "Variation found only in FECD individuals, but in an unconserved position. Pathogenicity uncertain." "Unknown" "" "" "0" "" "" "g.3234816T>G" "" "likely benign" "" "0000437041" "0" "33" "20" "3215406" "3215406" "subst" "0.000109646" "00000" "SLC4A11_000017" "g.3215406T>C" "0.006" "{PMID:Vithana 2008:18024964}" "" "" "Found in FECD and controls. Probably not pathogenic." "Unknown" "" "" "0" "" "" "g.3234760T>C" "" "likely benign" "" "0000437042" "3" "99" "20" "3214946" "3214949" "del" "0" "00000" "SLC4A11_000008" "g.3214946_3214949del" "" "{PMID:Mehta 2010:20118786}" "" "c.353_356delAGAA" "Frameshift, 11 novel residues then Stop" "Unknown" "" "" "0" "" "" "g.3234300_3234303del" "" "pathogenic" "" "0000437043" "3" "99" "20" "3214926" "3214926" "subst" "4.06557E-6" "00000" "SLC4A11_000041" "g.3214926C>T" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3234280C>T" "" "pathogenic" "" "0000437044" "3" "99" "20" "3214828" "3214835" "del" "0" "00000" "SLC4A11_000061" "g.3214828_3214835del" "" "{PMID:Aldahmesh 2009:19369245}" "" "c.520delGCTTCGCC; Arg158fs" "" "Unknown" "" "" "0" "" "" "g.3234182_3234189del" "" "pathogenic" "" "0000437045" "3" "99" "20" "3214819" "3214827" "delins" "0" "00000" "SLC4A11_000035" "g.3214819_3214827delinsG" "" "{PMID:Hemadevi 2008:18474783}" "" "c.473_480delGCTTCGCC c.481A>C;Arg158ProfsX3" "" "Unknown" "" "" "0" "" "" "g.3234173_3234181delinsG" "" "pathogenic" "" "0000437046" "3" "99" "20" "3214822" "3214822" "subst" "4.87488E-5" "00000" "SLC4A11_000039" "g.3214822C>T" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3234176C>T" "" "pathogenic" "" "0000437047" "1" "99" "20" "3214799" "3214799" "subst" "0.000418359" "00000" "SLC4A11_000020" "g.3214799C>G" "" "{PMID:Riazuddin 2010:20848555}" "" "" "" "Unknown" "" "" "0" "" "" "g.3234153C>G" "" "pathogenic" "" "0000437048" "3" "99" "20" "3213682" "3214380" "del" "0" "00000" "SLC4A11_000033" "g.3213682_3214380del" "" "{PMID:Hemadevi 2008:18474783}" "" "c.654(-97)_c.778(-1488)del698nucleotides; Cys218Lys fsX49" "" "Unknown" "" "" "0" "" "" "g.3233036_3233734del" "" "pathogenic" "" "0000437049" "1" "99" "20" "3214242" "3214242" "subst" "0" "00000" "SLC4A11_000029" "g.3214242C>T" "" "{PMID:Aldave 2007:17667634}" "" "c.743G>A; Ser232Asn" "" "Unknown" "" "" "0" "" "" "g.3233596C>T" "" "pathogenic" "" "0000437050" "3" "99" "20" "3212166" "3212166" "subst" "0" "00000" "SLC4A11_000038" "g.3212166G>A" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3231520G>A" "" "pathogenic" "" "0000437051" "3" "99" "20" "3212166" "3212166" "subst" "0" "00000" "SLC4A11_000042" "g.3212166G>A" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3231520G>A" "" "pathogenic" "" "0000437052" "3" "99" "20" "3212160" "3212160" "subst" "4.06147E-6" "00000" "SLC4A11_000067" "g.3212160G>A" "" "{PMID:Shah 2008:18363173}" "" "" "" "Unknown" "" "" "0" "" "" "g.3231514G>A" "" "pathogenic" "" "0000437053" "1" "99" "20" "3212127" "3212127" "subst" "0" "00000" "SLC4A11_000021" "g.3212127C>G" "" "{PMID:Riazuddin 2010:20848555}" "" "" "" "Unknown" "" "" "0" "" "" "g.3231481C>G" "" "pathogenic" "" "0000437054" "0" "11" "20" "3211992" "3211992" "subst" "2.43734E-5" "00000" "SLC4A11_000018" "g.3211992G>A" "0.013" "{PMID:Vithana 2008:18024964}" "" "" "Found only in controls. Probably a variation only." "Unknown" "" "" "0" "" "" "g.3231346G>A" "" "benign" "" "0000437055" "1" "99" "20" "3211987" "3211987" "subst" "0" "00000" "SLC4A11_000030" "g.3211987T>A" "" "{PMID:Aldave 2007:17667634}" "" "c.1033A>T; Arg329X" "" "Unknown" "" "" "0" "" "" "g.3231341T>A" "" "pathogenic" "" "0000437056" "3" "99" "20" "3211639" "3211639" "subst" "0" "00000" "SLC4A11_000040" "g.3211639A>G" "" "{PMID:Hemadevi 2008:18474783}" "" "C386R" "" "Unknown" "" "" "0" "" "" "g.3230993A>G" "" "pathogenic" "" "0000437057" "3" "99" "20" "3211639" "3211639" "subst" "0" "00000" "SLC4A11_000045" "g.3211639A>G" "" "{PMID:Ramprasad 2007:17397048}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230993A>G" "" "pathogenic" "" "0000437058" "1" "99" "20" "3211600" "3211600" "subst" "4.10001E-6" "00000" "SLC4A11_000014" "g.3211600C>T" "" "{PMID:Vithana 2008:18024964}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230954C>T" "" "pathogenic" "" "0000437059" "3" "99" "20" "3211243" "3211246" "delins" "0" "00000" "SLC4A11_000052" "g.3211243_3211246delinsT" "" "{PMID:Desir 2007:17220209}" "" "1378_1381delTACGinsA; Tyr460_Ala461delinsThr" "" "Unknown" "" "" "0" "" "" "g.3230597_3230600delinsT" "" "pathogenic" "" "0000437060" "3" "99" "20" "3211161" "3211161" "subst" "0" "00000" "SLC4A11_000053" "g.3211161C>T" "" "{PMID:Desir 2007:17220209}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230515C>T" "" "pathogenic" "" "0000437061" "1" "99" "20" "3210383" "3210383" "subst" "1.21902E-5" "00000" "SLC4A11_000022" "g.3210383T>C" "" "{PMID:Riazuddin 2010:20848555}" "" "Y526C" "" "Unknown" "" "" "0" "" "" "g.3229737T>C" "" "pathogenic" "" "0000437062" "0" "11" "20" "3210278" "3210278" "subst" "3.26129E-5" "00000" "SLC4A11_000019" "g.3210278G>A" "0.006" "{PMID:Vithana 2008:18024964}" "" "" "Found only in controls. Probably a variant only." "Unknown" "" "" "0" "" "" "g.3229632G>A" "" "benign" "" "0000437063" "0" "35" "20" "3210266" "3210266" "subst" "1.63303E-5" "00000" "SLC4A11_000016" "g.3210266G>A" "0.008" "{PMID:Vithana 2008:18024964}" "" "" "Pathogenicity of variation uncertain. Variation found only in one FECD patient, and not in controls. Position of mutation in amino acid sequence not conserved, possibly suggesting this is a variation, not a mutation." "Unknown" "" "" "0" "" "" "g.3229620G>A" "" "likely benign" "" "0000437064" "0" "99" "20" "3210237" "3210237" "subst" "0.000126957" "00000" "SLC4A11_000023" "g.3210237C>T" "" "{PMID:Riazuddin 2010:20848555}" "" "" "" "Unknown" "" "" "0" "" "" "g.3229591C>T" "" "pathogenic" "" "0000437065" "0" "99" "20" "3210212" "3210212" "subst" "0.000257273" "00000" "SLC4A11_000024" "g.3210212C>T" "" "{PMID:Riazuddin 2010:20848555}" "" "" "" "Unknown" "" "" "0" "" "" "g.3229566C>T" "" "pathogenic" "" "0000437066" "3" "99" "20" "3210076" "3210076" "subst" "8.13597E-6" "00000" "SLC4A11_000031" "g.3210076G>A" "" "{PMID:Mehta 2010:20118786}" "" "" "" "Unknown" "" "" "0" "" "" "g.3229430G>A" "" "pathogenic" "" "0000437067" "3" "99" "20" "3210045" "3210045" "delins" "0" "00000" "SLC4A11_000032" "g.3210045delinsCCGGCCGGC" "" "{PMID:Mehta 2010:20118786}" "" "c.IVS15-6_16delinsGCCGGCCGG" "Inactivation of splice acceptor site\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437068" "3" "99" "20" "3210045" "3210045" "delins" "0" "00000" "SLC4A11_000010" "g.3210045delinsCCGGCCGGCC" "" "HGVS format" "" "c.IVS15-6_16delinsGGCCGGCCGG" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437069" "1" "99" "20" "3209598" "3209598" "subst" "0" "00000" "SLC4A11_000011" "g.3209598C>T" "" "{PMID:Vithana 2008:18024964}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228952C>T" "" "pathogenic" "" "0000437070" "1" "99" "20" "3209500" "3209500" "subst" "0.000317298" "00000" "SLC4A11_000025" "g.3209500C>T" "" "{PMID:Riazuddin 2010:20848555}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228854C>T" "" "pathogenic" "" "0000437071" "3" "99" "20" "3209483" "3209483" "subst" "2.03459E-5" "00000" "SLC4A11_000027" "g.3209483C>T" "" "{PMID:Paliwal 2010:21203343}" "" "" "Inactivation of splice site" "Unknown" "" "" "0" "" "" "g.3228837C>T" "" "pathogenic" "" "0000437072" "0" "99" "20" "3209483" "3209483" "subst" "2.03459E-5" "00000" "SLC4A11_000047" "g.3209483C>T" "" "{PMID:Ramprasad 2007:17397048}" "" "" "Inactivation of splice donor site" "Unknown" "" "" "0" "" "" "g.3228837C>T" "" "pathogenic" "" "0000437073" "1" "99" "20" "3209333" "3209333" "subst" "3.2684E-5" "00000" "SLC4A11_000012" "g.3209333G>A" "" "{PMID:Vithana 2008:18024964}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228687G>A" "" "pathogenic" "" "0000437074" "3" "99" "20" "3209331" "3209331" "subst" "8.1702E-6" "00000" "SLC4A11_000043" "g.3209331G>A" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228685G>A" "" "pathogenic" "" "0000437075" "3" "99" "20" "3209276" "3209276" "subst" "0" "00000" "SLC4A11_000034" "g.3209276G>A" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228630G>A" "" "pathogenic" "" "0000437076" "0" "99" "20" "3209276" "3209276" "subst" "0" "00000" "SLC4A11_000034" "g.3209276G>A" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228630G>A" "" "pathogenic" "" "0000437077" "1" "99" "20" "3209196" "3209196" "subst" "0" "00000" "SLC4A11_000048" "g.3209196G>A" "" "{PMID:Ramprasad 2007:17397048}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228550G>A" "" "pathogenic" "" "0000437078" "0" "99" "20" "0" "0" "" "0" "00000" "SLC4A11_000056" "g.?" "" "{PMID:Desir 2007:17220209}" "" "c.2423_2454del32nucleotides; Leu808ArgfsX110" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437079" "2" "99" "20" "3209075" "3209075" "subst" "8.13988E-6" "00000" "SLC4A11_000049" "g.3209075C>T" "" "{PMID:Ramprasad 2007:17397048}" "" "" "Inactivation of splice acceptor site" "Unknown" "" "" "0" "" "" "g.3228429C>T" "" "pathogenic" "" "0000437080" "3" "99" "20" "3209041" "3209041" "subst" "8.12975E-6" "00000" "SLC4A11_000060" "g.3209041C>T" "" "{PMID:Desir 2007:17220209}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228395C>T" "" "pathogenic" "" "0000437081" "0" "99" "20" "3209011" "3209011" "subst" "0.000146296" "00000" "SLC4A11_000026" "g.3209011C>T" "" "{PMID:Riazuddin 2010:20848555}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228365C>T" "" "pathogenic" "" "0000437082" "0" "99" "20" "3209005" "3209005" "subst" "0" "00000" "SLC4A11_000037" "g.3209005G>A" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228359G>A" "" "pathogenic" "" "0000437083" "3" "99" "20" "3208992" "3208994" "del" "0" "00000" "SLC4A11_000028" "g.3208992_3208994del" "" "{PMID:Paliwal 2010:21203343}" "" "c.2518-2520delCTG; Leu840del" "" "Unknown" "" "" "0" "" "" "g.3228346_3228348del" "" "pathogenic" "" "0000437084" "0" "99" "20" "3208983" "3208983" "subst" "0" "00000" "SLC4A11_000057" "g.3208983G>A" "" "{PMID:Desir 2007:17220209}" "" "2528T>C; Leu843Pro" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000437085" "0" "99" "20" "3208945" "3208945" "subst" "8.13173E-6" "00000" "SLC4A11_000059" "g.3208945T>C" "" "{PMID:Desir 2007:17220209}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228299T>C" "" "pathogenic" "" "0000437086" "3" "99" "20" "3208491" "3208491" "subst" "0" "00000" "SLC4A11_000036" "g.3208491A>G" "" "{PMID:Hemadevi 2008:18474783}" "" "" "" "Unknown" "" "" "0" "" "" "g.3227845A>G" "" "pathogenic" "" "0000437087" "3" "99" "20" "3214946" "3214949" "del" "0" "00000" "SLC4A11_000008" "g.3214946_3214949del" "" "{PMID:Vithana 2006:16767101}" "" "" "Frameshift, 11 novel residues then Stop" "Unknown" "" "" "0" "" "" "g.3234300_3234303del" "" "pathogenic" "" "0000437088" "3" "99" "20" "3214873" "3214873" "subst" "4.06266E-6" "00000" "SLC4A11_000044" "g.3214873C>T" "" "{PMID:Ramprasad 2007:17397048}" "" "" "" "Unknown" "" "" "0" "" "" "g.3234227C>T" "" "pathogenic" "" "0000437089" "3" "99" "20" "3214828" "3214835" "del" "0" "00000" "SLC4A11_000051" "g.3214828_3214835del" "" "{PMID:Desir 2007:17220209}" "" "c.473_480delGCTTCGCC; Arg158ProfsX4" "" "Unknown" "" "" "0" "" "" "g.3234182_3234189del" "" "pathogenic" "" "0000437090" "0" "99" "20" "3214583" "3214583" "subst" "8.1279E-6" "00000" "SLC4A11_000058" "g.3214583A>G" "" "{PMID:Desir 2007:17220209}" "" "" "" "Unknown" "" "" "0" "" "" "g.3233937A>G" "" "pathogenic" "" "0000437091" "0" "55" "20" "3214218" "3214218" "subst" "0" "00243" "SLC4A11_000070" "g.3214218C>G" "1/250" "" "" "" "" "Germline" "" "" "0" "" "" "g.3233572C>G" "" "VUS" "" "0000437092" "3" "99" "20" "3211615" "3211615" "subst" "4.08944E-6" "00000" "SLC4A11_000062" "g.3211615C>G" "" "{PMID:Aldahmesh 2009:19369245}" "" "c.1228G<117C; Gly394Arg" "" "Unknown" "" "" "0" "" "" "g.3230969C>G" "" "pathogenic" "" "0000437093" "3" "99" "20" "3211455" "3211455" "subst" "0" "00000" "SLC4A11_000063" "g.3211455C>T" "" "{PMID:Aldahmesh 2009:19369245}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230809C>T" "" "pathogenic" "" "0000437094" "3" "55" "20" "3211404" "3211404" "subst" "0" "00243" "SLC4A11_000068" "g.3211404G>A" "2/380" "" "" "" "" "Germline" "" "" "0" "" "" "g.3230758G>A" "" "VUS" "" "0000437095" "3" "99" "20" "3211233" "3211233" "subst" "4.06161E-6" "00000" "SLC4A11_000003" "g.3211233C>T" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230587C>T" "" "pathogenic" "" "0000437096" "3" "99" "20" "3211233" "3211233" "subst" "4.06161E-6" "00000" "SLC4A11_000004" "g.3211233C>T" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230587C>T" "" "pathogenic" "" "0000437097" "3" "99" "20" "3211233" "3211233" "subst" "4.06161E-6" "00000" "SLC4A11_000005" "g.3211233C>T" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230587C>T" "" "pathogenic" "" "0000437098" "3" "99" "20" "3210904" "3210904" "subst" "1.21907E-5" "00000" "SLC4A11_000002" "g.3210904G>A" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3230258G>A" "" "pathogenic" "" "0000437099" "0" "55" "20" "3210851" "3210851" "subst" "0.00010562" "00243" "SLC4A11_000069" "g.3210851C>T" "1/250" "" "" "" "" "Germline" "" "" "0" "" "" "g.3230205C>T" "" "VUS" "" "0000437100" "3" "99" "20" "3210076" "3210076" "subst" "8.13597E-6" "00000" "SLC4A11_000007" "g.3210076G>A" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3229430G>A" "" "pathogenic" "" "0000437101" "0" "99" "20" "3209485" "3209492" "dup" "0" "00000" "SLC4A11_000054" "g.3209485_3209492dup" "" "{PMID:Desir 2007:17220209}" "" "c.2233_2240dupTATGACAC; Thr747ThrfsX6" "" "Unknown" "" "" "0" "" "" "g.3228839_3228846dup" "" "pathogenic" "" "0000437102" "3" "99" "20" "3209331" "3209331" "subst" "8.1702E-6" "00000" "SLC4A11_000046" "g.3209331G>A" "" "{PMID:Ramprasad 2007:17397048}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228685G>A" "" "pathogenic" "" "0000437103" "3" "99" "20" "3209330" "3209330" "subst" "4.08357E-6" "00000" "SLC4A11_000001" "g.3209330C>T" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228684C>T" "" "pathogenic" "" "0000437104" "3" "99" "20" "3209330" "3209330" "subst" "4.08357E-6" "00000" "SLC4A11_000006" "g.3209330C>T" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228684C>T" "" "pathogenic" "" "0000437105" "3" "99" "20" "3209330" "3209330" "subst" "4.08357E-6" "00000" "SLC4A11_000001" "g.3209330C>T" "" "{PMID:Ramprasad 2007:17397048}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228684C>T" "" "pathogenic" "" "0000437106" "0" "99" "20" "3208983" "3208983" "subst" "1.21918E-5" "00000" "SLC4A11_000055" "g.3208983A>G" "" "{PMID:Desir 2007:17220209}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228337A>G" "" "pathogenic" "" "0000437107" "3" "99" "20" "3208906" "3208906" "subst" "8.15488E-6" "00000" "SLC4A11_000009" "g.3208906G>A" "" "{PMID:Vithana 2006:16767101}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228260G>A" "" "pathogenic" "" "0000437108" "3" "99" "20" "3208906" "3208906" "subst" "8.15488E-6" "00000" "SLC4A11_000050" "g.3208906G>A" "" "{PMID:Ramprasad 2007:17397048}" "" "" "" "Unknown" "" "" "0" "" "" "g.3228260G>A" "" "pathogenic" "" "0000454305" "11" "70" "20" "3211578" "3211578" "subst" "0" "02112" "SLC4A11_000082" "g.3211578C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3230932C>T" "" "likely pathogenic" "" "0000454306" "21" "70" "20" "3209183" "3209183" "subst" "1.22144E-5" "02112" "SLC4A11_000081" "g.3209183C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3228537C>T" "" "likely pathogenic" "" "0000454307" "11" "70" "20" "3208992" "3208994" "del" "0" "02112" "SLC4A11_000028" "g.3208992_3208994del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3228346_3228348del" "" "likely pathogenic" "" "0000454308" "21" "70" "20" "3211471" "3211471" "subst" "0" "02112" "SLC4A11_000078" "g.3211471C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3230825C>T" "" "likely pathogenic" "" "0000454310" "11" "90" "20" "3209479" "3209479" "subst" "0" "02112" "SLC4A11_000079" "g.3209479C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.3228833C>T" "" "pathogenic" "" "0000454311" "0" "70" "20" "3209804" "3209804" "subst" "1.63449E-5" "02112" "SLC4A11_000080" "g.3209804A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.3229158A>G" "" "likely pathogenic" "" "0000454312" "0" "70" "20" "3208983" "3208983" "subst" "1.21918E-5" "02112" "SLC4A11_000055" "g.3208983A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.3228337A>G" "" "likely pathogenic" "" "0000569413" "0" "30" "20" "3208967" "3208967" "subst" "0.00247521" "01804" "ITPA_000001" "g.3208967C>T" "" "" "" "SLC4A11(NM_001174089.1):c.2496G>A (p.(Met832Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228321C>T" "" "likely benign" "" "0000569414" "0" "30" "20" "3209072" "3209072" "subst" "0.00247398" "01804" "ITPA_000002" "g.3209072A>C" "" "" "" "SLC4A11(NM_001174089.1):c.2391T>G (p.(Thr797=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228426A>C" "" "likely benign" "" "0000569415" "0" "90" "20" "3209075" "3209075" "subst" "8.13988E-6" "01943" "SLC4A11_000049" "g.3209075C>T" "" "" "" "SLC4A11(NM_001174090.1):c.2518-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228429C>T" "" "pathogenic" "" "0000569416" "0" "30" "20" "3209357" "3209357" "subst" "0.0375201" "01804" "ITPA_000003" "g.3209357C>T" "" "" "" "SLC4A11(NM_001174089.1):c.2193-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3228711C>T" "" "likely benign" "" "0000569417" "0" "30" "20" "3209664" "3209664" "subst" "0" "01943" "ITPA_000004" "g.3209664C>A" "" "" "" "SLC4A11(NM_001174090.1):c.2148-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229018C>A" "" "likely benign" "" "0000569418" "0" "30" "20" "3209734" "3209734" "subst" "0" "01943" "ITPA_000005" "g.3209734T>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+7A>G (p.(=)), SLC4A11(NM_001174090.1):c.2147+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229088T>C" "" "likely benign" "" "0000569419" "0" "30" "20" "3209734" "3209734" "subst" "0" "01804" "ITPA_000005" "g.3209734T>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+7A>G (p.(=)), SLC4A11(NM_001174090.1):c.2147+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229088T>C" "" "likely benign" "" "0000569420" "0" "30" "20" "3209737" "3209737" "subst" "0" "01804" "ITPA_000006" "g.3209737A>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+4T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229091A>C" "" "likely benign" "" "0000569421" "0" "30" "20" "3209739" "3209739" "subst" "0" "01804" "ITPA_000007" "g.3209739A>C" "" "" "" "SLC4A11(NM_001174089.1):c.2018+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229093A>C" "" "likely benign" "" "0000569422" "0" "30" "20" "3209869" "3209869" "subst" "0.000138512" "01943" "ITPA_000008" "g.3209869C>T" "" "" "" "SLC4A11(NM_001174090.1):c.2019G>A (p.A673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229223C>T" "" "likely benign" "" "0000569423" "0" "30" "20" "3210277" "3210277" "subst" "0.000281329" "01943" "ITPA_000009" "g.3210277C>T" "" "" "" "SLC4A11(NM_001174090.1):c.1764G>A (p.T588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229631C>T" "" "likely benign" "" "0000569424" "0" "30" "20" "3210278" "3210278" "subst" "3.26129E-5" "01943" "SLC4A11_000019" "g.3210278G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1763C>T (p.T588M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229632G>A" "" "likely benign" "" "0000569425" "0" "10" "20" "3210340" "3210340" "subst" "0.00193072" "01943" "ITPA_000010" "g.3210340G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1701C>T (p.L567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229694G>A" "" "benign" "" "0000569426" "0" "30" "20" "3210347" "3210347" "subst" "0" "01943" "ITPA_000011" "g.3210347G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1694C>T (p.S565L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229701G>A" "" "likely benign" "" "0000569427" "0" "30" "20" "3211575" "3211575" "subst" "0" "01804" "ITPA_000012" "g.3211575T>C" "" "" "" "SLC4A11(NM_001174089.1):c.1168+4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3230929T>C" "" "likely benign" "" "0000569428" "0" "30" "20" "3211577" "3211577" "subst" "0" "01804" "ITPA_000013" "g.3211577A>C" "" "" "" "SLC4A11(NM_001174089.1):c.1168+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3230931A>C" "" "likely benign" "" "0000569429" "0" "30" "20" "3211834" "3211834" "subst" "8.12143E-5" "01943" "ITPA_000014" "g.3211834C>T" "" "" "" "SLC4A11(NM_001174090.1):c.1132G>A (p.A378T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3231188C>T" "" "likely benign" "" "0000569431" "0" "30" "20" "3214276" "3214276" "subst" "1.63575E-5" "01943" "SLC4A11_000084" "g.3214276T>C" "" "" "" "SLC4A11(NM_001174090.1):c.742A>G (p.M248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3233630T>C" "" "likely benign" "" "0000569432" "0" "30" "20" "3214830" "3214830" "subst" "0.000121871" "01943" "SLC4A11_000085" "g.3214830C>T" "" "" "" "SLC4A11(NM_001174090.1):c.551G>A (p.R184H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3234184C>T" "" "likely benign" "" "0000569433" "0" "50" "20" "3215268" "3215268" "subst" "0.000121859" "01943" "SLC4A11_000086" "g.3215268C>T" "" "" "" "SLC4A11(NM_001174090.1):c.371-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3234622C>T" "" "VUS" "" "0000569434" "0" "30" "20" "3215432" "3215432" "subst" "0.000125886" "01943" "SLC4A11_000087" "g.3215432C>A" "" "" "" "SLC4A11(NM_001174090.1):c.326G>T (p.R109L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3234786C>A" "" "likely benign" "" "0000618039" "0" "30" "20" "3193818" "3193818" "subst" "0" "02327" "ITPA_000016" "g.3193818G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213172G>T" "" "likely benign" "" "0000618040" "0" "30" "20" "3193844" "3193844" "subst" "0.000203031" "02327" "ITPA_000017" "g.3193844A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213198A>G" "" "likely benign" "" "0000618041" "0" "30" "20" "3193879" "3193879" "subst" "8.12123E-5" "02327" "ITPA_000019" "g.3193879C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213233C>T" "" "likely benign" "" "0000618042" "0" "70" "20" "3195933" "3195933" "subst" "0" "02327" "ITPA_000020" "g.3195933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3215287G>A" "" "likely pathogenic" "" "0000618052" "0" "30" "20" "3210062" "3210062" "subst" "0.000479897" "01943" "ITPA_000022" "g.3210062G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1908C>T (p.S636=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229416G>A" "" "likely benign" "" "0000618053" "0" "30" "20" "3211846" "3211846" "subst" "0.00115331" "01943" "ITPA_000015" "g.3211846G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1120C>T (p.R374W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3231200G>A" "" "likely benign" "" "0000618054" "0" "50" "20" "3214737" "3214737" "subst" "0.000589512" "01943" "SLC4A11_000088" "g.3214737C>T" "" "" "" "SLC4A11(NM_001174090.1):c.644G>A (p.R215Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3234091C>T" "" "VUS" "" "0000618055" "0" "50" "20" "3214843" "3214843" "subst" "5.68759E-5" "01943" "SLC4A11_000089" "g.3214843G>A" "" "" "" "SLC4A11(NM_001174090.1):c.538C>T (p.R180W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3234197G>A" "" "VUS" "" "0000618056" "0" "30" "20" "3214938" "3214938" "subst" "0" "01943" "SLC4A11_000090" "g.3214938T>C" "" "" "" "SLC4A11(NM_001174090.1):c.443A>G (p.K148R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3234292T>C" "" "likely benign" "" "0000624143" "0" "30" "20" "3193872" "3193872" "subst" "0.000357334" "02325" "ITPA_000018" "g.3193872C>T" "" "" "" "ITPA(NM_001324240.2):c.124C>T (p.L42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3213226C>T" "" "likely benign" "" "0000624146" "0" "30" "20" "3209815" "3209815" "subst" "0.000138841" "01943" "ITPA_000021" "g.3209815G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2073C>T (p.L691=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3229169G>A" "" "likely benign" "" "0000650771" "1" "90" "20" "3208905" "3208905" "subst" "1.22324E-5" "03575" "SLC4A11_000091" "g.3208905C>T" "1/2783 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909392}" "Germline" "" "rs121909392" "0" "" "" "g.3228259C>T" "" "pathogenic" "" "0000650772" "1" "30" "20" "3209012" "3209012" "subst" "0.0289535" "03575" "SLC4A11_000092" "g.3209012C>T" "157/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "157 heterozygous; {DB:CLININrs58757394}" "Germline" "" "rs58757394" "0" "" "" "g.3228366C>T" "" "likely benign" "" "0000650773" "1" "90" "20" "3214583" "3214583" "subst" "8.1279E-6" "03575" "SLC4A11_000058" "g.3214583A>G" "2/2787 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121909395}" "Germline" "" "rs121909395" "0" "" "" "g.3233937A>G" "" "pathogenic" "" "0000650774" "1" "10" "20" "3214895" "3214895" "subst" "0.0196858" "03575" "SLC4A11_000093" "g.3214895C>T" "122/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "122 heterozygous; {DB:CLININrs34460295}" "Germline" "" "rs34460295" "0" "" "" "g.3234249C>T" "" "benign" "" "0000669669" "3" "30" "20" "3209012" "3209012" "subst" "0.0289535" "03575" "SLC4A11_000092" "g.3209012C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs58757394}" "Germline" "" "rs58757394" "0" "" "" "g.3228366C>T" "" "likely benign" "" "0000669670" "3" "10" "20" "3214895" "3214895" "subst" "0.0196858" "03575" "SLC4A11_000093" "g.3214895C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs34460295}" "Germline" "" "rs34460295" "0" "" "" "g.3234249C>T" "" "benign" "" "0000681590" "0" "50" "20" "3211307" "3211307" "del" "0" "01943" "ITPA_000024" "g.3211307del" "" "" "" "SLC4A11(NM_001174090.1):c.1412-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681591" "0" "30" "20" "3211714" "3211714" "subst" "0.00214587" "01943" "ITPA_000025" "g.3211714G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1172-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681592" "0" "10" "20" "3214819" "3214819" "subst" "0.437067" "02325" "SLC4A11_000094" "g.3214819T>G" "" "" "" "SLC4A11(NM_032034.4):c.481A>C (p.R161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681593" "0" "50" "20" "3218217" "3218217" "subst" "4.46664E-5" "01943" "SLC4A11_000095" "g.3218217A>G" "" "" "" "SLC4A11(NM_001174089.2):c.61T>C (p.(Ser21Pro)), SLC4A11(NM_001174090.1):c.190T>C (p.S64P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692961" "0" "50" "20" "3210219" "3210219" "subst" "8.1606E-6" "01943" "ITPA_000026" "g.3210219T>C" "" "" "" "SLC4A11(NM_001174090.1):c.1822A>G (p.M608V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692962" "0" "50" "20" "3212022" "3212022" "subst" "0.000134018" "01943" "ITPA_000027" "g.3212022G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1031C>T (p.T344M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727648" "0" "50" "20" "3209353" "3209353" "subst" "0.00144349" "01943" "ITPA_000028" "g.3209353C>G" "" "" "" "SLC4A11(NM_001174090.1):c.2322G>C (p.T774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727649" "0" "30" "20" "3209767" "3209767" "subst" "8.71384E-5" "01943" "ITPA_000029" "g.3209767G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2121C>T (p.A707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727650" "0" "30" "20" "3210056" "3210056" "subst" "0.000935469" "01943" "ITPA_000030" "g.3210056G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1914C>T (p.C638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727651" "0" "50" "20" "3214799" "3214799" "subst" "0.000418359" "01943" "SLC4A11_000020" "g.3214799C>G" "" "" "" "SLC4A11(NM_001174090.1):c.582G>C (p.E194D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730488" "3" "70" "20" "3214189" "3214189" "subst" "0" "00000" "SLC4A11_000096" "g.3214189C>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.3233543C>A" "" "likely pathogenic (recessive)" "" "0000797398" "3" "70" "20" "3208983" "3208983" "subst" "1.21918E-5" "00000" "SLC4A11_000055" "g.3208983A>G" "" "{PMID:Patel 2019:30653986}" "" "different transcript: NM_032034.3(SLC4A11):c.2528T-->C; p.Leu843Pro" "no Sanger sequencing; homozygous" "Germline" "?" "" "0" "" "" "g.3228337A>G" "" "likely pathogenic" "" "0000855797" "0" "50" "20" "3210266" "3210266" "subst" "1.63303E-5" "01943" "SLC4A11_000016" "g.3210266G>A" "" "" "" "SLC4A11(NM_001174090.1):c.1775C>T (p.S592L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855798" "0" "50" "20" "3218279" "3218279" "subst" "1.62452E-5" "01943" "SLC4A11_000100" "g.3218279T>G" "" "" "" "SLC4A11(NM_032034.3):c.47A>C (p.Q16P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866420" "0" "90" "20" "3209536" "3209536" "subst" "4.06686E-6" "01943" "SLC4A11_000097" "g.3209536G>A" "" "" "" "SLC4A11(NM_001174090.1):c.2269C>T (p.R757*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866421" "0" "50" "20" "3212175" "3212175" "subst" "4.06266E-6" "01943" "SLC4A11_000098" "g.3212175A>G" "" "" "" "SLC4A11(NM_001174090.1):c.878T>C (p.M293T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866422" "0" "50" "20" "3214891" "3214891" "subst" "5.68851E-5" "01943" "SLC4A11_000099" "g.3214891C>A" "" "" "" "SLC4A11(NM_001174090.1):c.490G>T (p.A164S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866423" "0" "70" "20" "3219781" "3219781" "subst" "0" "01943" "SLC4A11_000101" "g.3219781C>G" "" "" "" "SLC4A11(NM_001174089.1):c.3G>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000921847" "1" "90" "20" "3209483" "3209483" "subst" "2.03459E-5" "00006" "SLC4A11_000027" "g.3209483C>T" "" "{PMID:Jackson 2020:32830442}" "" "NM_001174090.1:2321+1G>A" "" "Germline" "" "" "0" "" "" "g.3228837C>T" "" "pathogenic (recessive)" "" "0000921931" "2" "90" "20" "3214873" "3214873" "subst" "4.06266E-6" "00006" "SLC4A11_000044" "g.3214873C>T" "" "{PMID:Jackson 2020:32830442}" "" "NM_001174090.1:508G>A (Glu170Lys)" "" "Germline" "" "" "0" "" "" "g.3234227C>T" "" "pathogenic (recessive)" "" "0000983771" "0" "50" "20" "3208479" "3208479" "subst" "0" "01804" "SLC4A11_000102" "g.3208479A>G" "" "" "" "SLC4A11(NM_001174089.2):c.2582T>C (p.(Ile861Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983772" "0" "50" "20" "3209500" "3209500" "subst" "0.000317298" "01804" "SLC4A11_000025" "g.3209500C>T" "" "" "" "SLC4A11(NM_001174089.2):c.2176G>A (p.(Gly726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983773" "0" "70" "20" "3214159" "3214159" "subst" "0" "02329" "SLC4A11_000103" "g.3214159C>A" "" "" "" "SLC4A11(NM_001174090.2):c.858+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983774" "0" "50" "20" "3214225" "3214225" "subst" "0" "01804" "SLC4A11_000104" "g.3214225G>A" "" "" "" "SLC4A11(NM_001174089.2):c.664C>T (p.(Gln222*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983775" "0" "50" "20" "3218217" "3218217" "subst" "4.46664E-5" "01804" "SLC4A11_000095" "g.3218217A>G" "" "" "" "SLC4A11(NM_001174089.2):c.61T>C (p.(Ser21Pro)), SLC4A11(NM_001174090.1):c.190T>C (p.S64P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005337" "0" "50" "20" "3209184" "3209184" "subst" "0" "01804" "SLC4A11_000105" "g.3209184G>T" "" "" "" "SLC4A11(NM_001174089.1):c.2362C>A (p.(Arg788Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005338" "0" "50" "20" "3211203" "3211203" "subst" "0" "01804" "SLC4A11_000106" "g.3211203T>A" "" "" "" "SLC4A11(NM_001174089.1):c.1373A>T (p.(Tyr458Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005339" "0" "50" "20" "3214873" "3214873" "subst" "8.12532E-6" "01804" "SLC4A11_000107" "g.3214873C>G" "" "" "" "SLC4A11(NM_001174089.1):c.379G>C (p.(Glu127Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005340" "0" "50" "20" "3214923" "3214923" "subst" "1.62627E-5" "01804" "SLC4A11_000108" "g.3214923G>A" "" "" "" "SLC4A11(NM_001174089.1):c.329C>T (p.(Ala110Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005341" "0" "30" "20" "3215390" "3215390" "subst" "0" "01804" "SLC4A11_000109" "g.3215390G>C" "" "" "" "SLC4A11(NM_001174089.1):c.239C>G (p.(Thr80Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005342" "0" "30" "20" "3218598" "3218598" "subst" "0" "01804" "SLC4A11_000110" "g.3218598G>C" "" "" "" "SLC4A11(NM_001174090.1):c.113C>G (p.(Ser38Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005343" "0" "50" "20" "3218710" "3218710" "subst" "0" "01804" "SLC4A11_000111" "g.3218710T>C" "" "" "" "SLC4A11(NM_001174090.1):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043313" "0" "50" "20" "3208474" "3208474" "subst" "8.17528E-6" "01804" "SLC4A11_000112" "g.3208474C>G" "" "" "" "SLC4A11(NM_001174089.2):c.2587G>C (p.(Ala863Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043314" "0" "50" "20" "3211262" "3211262" "subst" "1.21898E-5" "01804" "SLC4A11_000113" "g.3211262C>T" "" "" "" "SLC4A11(NM_001174089.2):c.1314G>A (p.(Leu438=))" "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 SLC4A11 ## Count = 234 "{{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}}" "0000298314" "00019020" "10" "1043" "-15" "1043" "-15" "c.1043-15A>C" "r.(=)" "p.(=)" "" "0000298314" "00025340" "10" "1091" "-15" "1091" "-15" "c.1091-15A>C" "r.(=)" "p.(=)" "" "0000298315" "00019020" "10" "2193" "-18" "2193" "-18" "c.2193-18C>T" "r.(=)" "p.(=)" "" "0000298315" "00025340" "10" "2241" "-18" "2241" "-18" "c.2241-18C>T" "r.(=)" "p.(=)" "" "0000308464" "00019020" "30" "1722" "0" "1722" "0" "c.1722C>G" "r.(?)" "p.(Thr574=)" "" "0000308464" "00025340" "30" "1770" "0" "1770" "0" "c.1770C>G" "r.(?)" "p.(Thr590=)" "" "0000308465" "00019020" "30" "44" "-73" "44" "-73" "c.44-73C>T" "r.(=)" "p.(=)" "" "0000308465" "00025340" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "0000308466" "00019020" "30" "2010" "0" "2010" "0" "c.2010G>A" "r.(?)" "p.(Pro670=)" "" "0000308466" "00025340" "30" "2058" "0" "2058" "0" "c.2058G>A" "r.(?)" "p.(Pro686=)" "" "0000308467" "00019020" "30" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Pro764=)" "" "0000308467" "00025340" "30" "2340" "0" "2340" "0" "c.2340C>T" "r.(?)" "p.(Pro780=)" "" "0000346250" "00019020" "50" "2176" "0" "2176" "0" "c.2176G>A" "r.(?)" "p.(Gly726Arg)" "" "0000346250" "00025340" "50" "2224" "0" "2224" "0" "c.2224G>A" "r.(?)" "p.(Gly742Arg)" "" "0000437036" "00025340" "77" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "?" "0000437037" "00025340" "99" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "?" "0000437038" "00025340" "99" "0" "0" "0" "0" "c.?" "r.(=)" "p.(=)" "?" "0000437039" "00025340" "99" "99" "0" "100" "0" "c.99_100del" "r.(?)" "p.(Pro34Hisfs*17)" "?" "0000437040" "00025340" "35" "215" "0" "215" "0" "c.215A>C" "r.(?)" "p.(Asn72Thr)" "?" "0000437041" "00025340" "33" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Met91Val)" "?" "0000437042" "00025340" "99" "353" "0" "356" "0" "c.353_356del" "r.(?)" "p.(Lys118Thrfs*12)" "?" "0000437043" "00025340" "99" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Arg125His)" "?" "0000437044" "00025340" "99" "473" "0" "480" "0" "c.473_480del" "r.(?)" "p.(Arg158Glnfs*4)" "?" "0000437045" "00025340" "99" "473" "0" "481" "0" "c.473_481delinsC" "r.(?)" "p.(Arg158Profs*4)" "?" "0000437046" "00025340" "99" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Ala160Thr)" "?" "0000437047" "00025340" "99" "501" "0" "501" "0" "c.501G>C" "r.(?)" "p.(Glu167Asp)" "?" "0000437048" "00025340" "99" "654" "-97" "777" "478" "c.654-97_777+478del" "r.(=)" "p.(Cys219Lysfs*49)" "?" "0000437049" "00025340" "99" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Ser232Asn)" "?" "0000437050" "00025340" "99" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Ala269Val)" "?" "0000437051" "00025340" "99" "806" "0" "806" "0" "c.806C>T" "r.(?)" "p.(Ala269Val)" "?" "0000437052" "00025340" "99" "812" "0" "812" "0" "c.812C>T" "r.(?)" "p.(Thr271Met)" "?" "0000437053" "00025340" "99" "845" "0" "845" "0" "c.845G>C" "r.(?)" "p.(Arg282Pro)" "?" "0000437054" "00025340" "11" "980" "0" "980" "0" "c.980C>T" "r.(?)" "p.(Ala327Val)" "?" "0000437055" "00025340" "99" "985" "0" "985" "0" "c.985A>T" "r.(?)" "p.(Arg329*)" "?" "0000437056" "00025340" "99" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Cys386Arg)" "?" "0000437057" "00025340" "99" "1156" "0" "1156" "0" "c.1156T>C" "r.(?)" "p.(Cys386Arg)" "?" "0000437058" "00025340" "99" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Glu399Lys)" "?" "0000437059" "00025340" "99" "1378" "0" "1381" "0" "c.1378_1381delinsA" "r.(?)" "p.(Tyr460_Ala461delinsThr)" "?" "0000437060" "00025340" "99" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488Lys)" "?" "0000437061" "00025340" "99" "1577" "0" "1577" "0" "c.1577A>G" "r.(?)" "p.(Tyr526Cys)" "?" "0000437062" "00025340" "11" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Met)" "?" "0000437063" "00025340" "35" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Ser565Leu)" "?" "0000437064" "00025340" "99" "1723" "0" "1723" "0" "c.1723G>A" "r.(?)" "p.(Val575Met)" "?" "0000437065" "00025340" "99" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Gly583Asp)" "?" "0000437066" "00025340" "99" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Arg605*)" "?" "0000437067" "00025340" "99" "1850" "-6" "1850" "-6" "c.1850-6delinsGCCGGCCGG" "r.(=)" "p.(=)" "?" "0000437068" "00025340" "99" "1850" "-6" "1850" "-6" "c.1850-6delinsGGCCGGCCGG" "r.(=)" "p.(=)" "?" "0000437069" "00025340" "99" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Gly709Glu)" "?" "0000437070" "00025340" "99" "2224" "0" "2224" "0" "c.2224G>A" "r.(?)" "p.(Gly742Arg)" "?" "0000437071" "00025340" "99" "2240" "1" "2240" "1" "c.2240+1G>A" "r.(=)" "p.(=)" "?" "0000437072" "00025340" "99" "2240" "1" "2240" "1" "c.2240+1G>A" "r.(=)" "p.(=)" "?" "0000437073" "00025340" "99" "2261" "0" "2261" "0" "c.2261C>T" "r.(?)" "p.(Thr754Met)" "?" "0000437074" "00025340" "99" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755Trp)" "?" "0000437075" "00025340" "99" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Pro773Leu)" "?" "0000437076" "00025340" "99" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Pro773Leu)" "?" "0000437077" "00025340" "99" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Gln800*)" "?" "0000437078" "00025340" "99" "2423" "0" "2454" "0" "c.2423_2454del32nucleotides" "r.(?)" "p.(Leu808Profs*60)" "?" "0000437079" "00025340" "99" "2437" "-1" "2437" "-1" "c.2437-1G>A" "r.(=)" "p.(=)" "?" "0000437080" "00025340" "99" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Val824Met)" "?" "0000437081" "00025340" "99" "2500" "0" "2500" "0" "c.2500G>A" "r.(?)" "p.(Gly834Ser)" "?" "0000437082" "00025340" "99" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Gln836*)" "?" "0000437083" "00025340" "99" "2527" "0" "2529" "0" "c.2527_2529del" "r.(?)" "p.(Leu843del)" "?" "0000437084" "00025340" "99" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Leu843Pro)" "?" "0000437085" "00025340" "99" "2566" "0" "2566" "0" "c.2566A>G" "r.(?)" "p.(Met856Val)" "?" "0000437086" "00025340" "99" "2618" "0" "2618" "0" "c.2618T>C" "r.(?)" "p.(Leu873Pro)" "?" "0000437087" "00025340" "99" "353" "0" "356" "0" "c.353_356del" "r.(?)" "p.(Lys118Thrfs*12)" "4" "0000437088" "00025340" "99" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "4" "0000437089" "00025340" "99" "473" "0" "480" "0" "c.473_480del" "r.(?)" "p.(Arg158Glnfs*4)" "4" "0000437090" "00025340" "99" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Ser213Pro)" "5" "0000437091" "00025340" "55" "719" "0" "719" "0" "c.719G>C" "r.(?)" "p.W240S" "6" "0000437092" "00025340" "99" "1180" "0" "1180" "0" "c.1180G>C" "r.(?)" "p.(Gly394Arg)" "9" "0000437093" "00025340" "99" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.(Gly418Asp)" "10" "0000437094" "00025340" "55" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.Thr434Ile" "10" "0000437095" "00025340" "99" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Gly464Asp)" "11" "0000437096" "00025340" "99" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Gly464Asp)" "11" "0000437097" "00025340" "99" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Gly464Asp)" "11" "0000437098" "00025340" "99" "1466" "0" "1466" "0" "c.1466C>T" "r.(?)" "p.(Ser489Leu)" "12" "0000437099" "00025340" "55" "1519" "0" "1519" "0" "c.1519G>A" "r.(?)" "p.Val507Ile" "12" "0000437100" "00025340" "99" "1813" "0" "1813" "0" "c.1813C>T" "r.(?)" "p.(Arg605*)" "14" "0000437101" "00025340" "99" "2233" "0" "2240" "0" "c.2233_2240dup" "r.(?)" "p.(Ile748Metfs*5)" "16" "0000437102" "00025340" "99" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755Trp)" "17" "0000437103" "00025340" "99" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "17" "0000437104" "00025340" "99" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "17" "0000437105" "00025340" "99" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "17" "0000437106" "00025340" "99" "2528" "0" "2528" "0" "c.2528T>C" "r.(?)" "p.(Leu843Pro)" "18" "0000437107" "00025340" "99" "2605" "0" "2605" "0" "c.2605C>T" "r.(?)" "p.(Arg869Cys)" "18" "0000437108" "00025340" "99" "2605" "0" "2605" "0" "c.2605C>T" "r.(?)" "p.(Arg869Cys)" "18" "0000454305" "00025340" "70" "1216" "1" "1216" "1" "c.1216+1G>A" "r.spl" "p.?" "" "0000454306" "00025340" "70" "2411" "0" "2411" "0" "c.2411G>A" "r.(2411a>g)" "p.(Arg804His)" "" "0000454307" "00025340" "70" "2527" "0" "2529" "0" "c.2527_2529del" "r.(2527_2529del)" "p.(Leu843del)" "" "0000454308" "00025340" "70" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Gly413Arg)" "" "0000454310" "00025340" "90" "2240" "5" "2240" "5" "c.2240+5G>A" "r.spl" "p.(Thr747*)" "" "0000454311" "00025340" "70" "2003" "0" "2003" "0" "c.2003T>C" "r.(?)" "p.(Leu668Pro)" "" "0000454312" "00025340" "70" "2528" "0" "2528" "0" "c.2528T>C" "r.(?)" "p.(Leu843Pro)" "" "0000569413" "00019020" "30" "2496" "0" "2496" "0" "c.2496G>A" "r.(?)" "p.(Met832Ile)" "" "0000569413" "00025340" "30" "2544" "0" "2544" "0" "c.2544G>A" "r.(?)" "p.(Met848Ile)" "" "0000569414" "00019020" "30" "2391" "0" "2391" "0" "c.2391T>G" "r.(?)" "p.(Thr797=)" "" "0000569414" "00025340" "30" "2439" "0" "2439" "0" "c.2439T>G" "r.(?)" "p.(Thr813=)" "" "0000569415" "00019020" "90" "2389" "-1" "2389" "-1" "c.2389-1G>A" "r.spl?" "p.?" "" "0000569415" "00025340" "90" "2437" "-1" "2437" "-1" "c.2437-1G>A" "r.spl?" "p.?" "" "0000569416" "00019020" "30" "2193" "-4" "2193" "-4" "c.2193-4G>A" "r.spl?" "p.?" "" "0000569416" "00025340" "30" "2241" "-4" "2241" "-4" "c.2241-4G>A" "r.spl?" "p.?" "" "0000569417" "00019020" "30" "2019" "-7" "2019" "-7" "c.2019-7G>T" "r.(=)" "p.(=)" "" "0000569417" "00025340" "30" "2067" "-7" "2067" "-7" "c.2067-7G>T" "r.(=)" "p.(=)" "" "0000569418" "00019020" "30" "2018" "7" "2018" "7" "c.2018+7A>G" "r.(=)" "p.(=)" "" "0000569418" "00025340" "30" "2066" "7" "2066" "7" "c.2066+7A>G" "r.(=)" "p.(=)" "" "0000569419" "00019020" "30" "2018" "7" "2018" "7" "c.2018+7A>G" "r.(=)" "p.(=)" "" "0000569419" "00025340" "30" "2066" "7" "2066" "7" "c.2066+7A>G" "r.(=)" "p.(=)" "" "0000569420" "00019020" "30" "2018" "4" "2018" "4" "c.2018+4T>G" "r.spl?" "p.?" "" "0000569420" "00025340" "30" "2066" "4" "2066" "4" "c.2066+4T>G" "r.spl?" "p.?" "" "0000569421" "00019020" "30" "2018" "2" "2018" "2" "c.2018+2T>G" "r.spl?" "p.?" "" "0000569421" "00025340" "30" "2066" "2" "2066" "2" "c.2066+2T>G" "r.spl?" "p.?" "" "0000569422" "00019020" "30" "1890" "0" "1890" "0" "c.1890G>A" "r.(?)" "p.(Ala630=)" "" "0000569422" "00025340" "30" "1938" "0" "1938" "0" "c.1938G>A" "r.(?)" "p.(Ala646=)" "" "0000569423" "00019020" "30" "1635" "0" "1635" "0" "c.1635G>A" "r.(?)" "p.(Thr545=)" "" "0000569423" "00025340" "30" "1683" "0" "1683" "0" "c.1683G>A" "r.(?)" "p.(Thr561=)" "" "0000569424" "00019020" "30" "1634" "0" "1634" "0" "c.1634C>T" "r.(?)" "p.(Thr545Met)" "" "0000569424" "00025340" "30" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Met)" "" "0000569425" "00019020" "10" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Leu524=)" "" "0000569425" "00025340" "10" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Leu540=)" "" "0000569426" "00019020" "30" "1565" "0" "1565" "0" "c.1565C>T" "r.(?)" "p.(Ser522Leu)" "" "0000569426" "00025340" "30" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Ser538Leu)" "" "0000569427" "00019020" "30" "1168" "4" "1168" "4" "c.1168+4A>G" "r.spl?" "p.?" "" "0000569427" "00025340" "30" "1216" "4" "1216" "4" "c.1216+4A>G" "r.spl?" "p.?" "" "0000569428" "00019020" "30" "1168" "2" "1168" "2" "c.1168+2T>G" "r.spl?" "p.?" "" "0000569428" "00025340" "30" "1216" "2" "1216" "2" "c.1216+2T>G" "r.spl?" "p.?" "" "0000569429" "00019020" "30" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Ala335Thr)" "" "0000569429" "00025340" "30" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Ala351Thr)" "" "0000569431" "00019020" "30" "613" "0" "613" "0" "c.613A>G" "r.(?)" "p.(Met205Val)" "" "0000569431" "00025340" "30" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Met221Val)" "" "0000569432" "00019020" "30" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141His)" "" "0000569432" "00025340" "30" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000569433" "00019020" "50" "242" "-5" "242" "-5" "c.242-5G>A" "r.spl?" "p.?" "" "0000569433" "00025340" "50" "290" "-5" "290" "-5" "c.290-5G>A" "r.spl?" "p.?" "" "0000569434" "00019020" "30" "197" "0" "197" "0" "c.197G>T" "r.(?)" "p.(Arg66Leu)" "" "0000569434" "00025340" "30" "245" "0" "245" "0" "c.245G>T" "r.(?)" "p.(Arg82Leu)" "" "0000618039" "00019020" "30" "17243" "0" "17243" "0" "c.*14615C>A" "r.(=)" "p.(=)" "" "0000618039" "00025340" "30" "17291" "0" "17291" "0" "c.*14615C>A" "r.(=)" "p.(=)" "" "0000618040" "00019020" "30" "17217" "0" "17217" "0" "c.*14589T>C" "r.(=)" "p.(=)" "" "0000618040" "00025340" "30" "17265" "0" "17265" "0" "c.*14589T>C" "r.(=)" "p.(=)" "" "0000618041" "00019020" "30" "17182" "0" "17182" "0" "c.*14554G>A" "r.(=)" "p.(=)" "" "0000618041" "00025340" "30" "17230" "0" "17230" "0" "c.*14554G>A" "r.(=)" "p.(=)" "" "0000618042" "00019020" "70" "15128" "0" "15128" "0" "c.*12500C>T" "r.(=)" "p.(=)" "" "0000618042" "00025340" "70" "15176" "0" "15176" "0" "c.*12500C>T" "r.(=)" "p.(=)" "" "0000618052" "00019020" "30" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.(Ser593=)" "" "0000618052" "00025340" "30" "1827" "0" "1827" "0" "c.1827C>T" "r.(?)" "p.(Ser609=)" "" "0000618053" "00019020" "30" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331Trp)" "" "0000618053" "00025340" "30" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Trp)" "" "0000618054" "00019020" "50" "515" "0" "515" "0" "c.515G>A" "r.(?)" "p.(Arg172Gln)" "" "0000618054" "00025340" "50" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Gln)" "" "0000618055" "00019020" "50" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Trp)" "" "0000618055" "00025340" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Trp)" "" "0000618056" "00019020" "30" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Lys105Arg)" "" "0000618056" "00025340" "30" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Lys121Arg)" "" "0000624143" "00019020" "30" "17189" "0" "17189" "0" "c.*14561G>A" "r.(=)" "p.(=)" "" "0000624143" "00025340" "30" "17237" "0" "17237" "0" "c.*14561G>A" "r.(=)" "p.(=)" "" "0000624146" "00019020" "30" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(Leu648=)" "" "0000624146" "00025340" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Leu664=)" "" "0000650771" "00019020" "90" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853His)" "" "0000650771" "00025340" "90" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Arg869His)" "" "0000650772" "00019020" "30" "2451" "0" "2451" "0" "c.2451G>A" "r.(=)" "p.(=)" "" "0000650772" "00025340" "30" "2499" "0" "2499" "0" "c.2499G>A" "r.(=)" "p.(=)" "" "0000650773" "00019020" "90" "589" "0" "589" "0" "c.589T>C" "r.(?)" "p.(Ser197Pro)" "" "0000650773" "00025340" "90" "637" "0" "637" "0" "c.637T>C" "r.(?)" "p.(Ser213Pro)" "" "0000650774" "00019020" "10" "357" "0" "357" "0" "c.357G>A" "r.(=)" "p.(=)" "" "0000650774" "00025340" "10" "405" "0" "405" "0" "c.405G>A" "r.(=)" "p.(=)" "" "0000669669" "00019020" "30" "2451" "0" "2451" "0" "c.2451G>A" "r.(=)" "p.(=)" "" "0000669669" "00025340" "30" "2499" "0" "2499" "0" "c.2499G>A" "r.(=)" "p.(=)" "" "0000669670" "00019020" "10" "357" "0" "357" "0" "c.357G>A" "r.(=)" "p.(=)" "" "0000669670" "00025340" "10" "405" "0" "405" "0" "c.405G>A" "r.(=)" "p.(=)" "" "0000681590" "00019020" "50" "1283" "-10" "1283" "-10" "c.1283-10del" "r.(=)" "p.(=)" "" "0000681590" "00025340" "50" "1331" "-10" "1331" "-10" "c.1331-10del" "r.(=)" "p.(=)" "" "0000681591" "00019020" "30" "1043" "-10" "1043" "-10" "c.1043-10C>T" "r.(=)" "p.(=)" "" "0000681591" "00025340" "30" "1091" "-10" "1091" "-10" "c.1091-10C>T" "r.(=)" "p.(=)" "" "0000681592" "00019020" "10" "433" "0" "433" "0" "c.433A>C" "r.(?)" "p.(Arg145=)" "" "0000681592" "00025340" "10" "481" "0" "481" "0" "c.481A>C" "r.(?)" "p.(Arg161=)" "" "0000681593" "00019020" "50" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Ser21Pro)" "" "0000681593" "00025340" "50" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Ser37Pro)" "" "0000692961" "00019020" "50" "1693" "0" "1693" "0" "c.1693A>G" "r.(?)" "p.(Met565Val)" "" "0000692961" "00025340" "50" "1741" "0" "1741" "0" "c.1741A>G" "r.(?)" "p.(Met581Val)" "" "0000692962" "00019020" "50" "902" "0" "902" "0" "c.902C>T" "r.(?)" "p.(Thr301Met)" "" "0000692962" "00025340" "50" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Thr317Met)" "" "0000727648" "00019020" "50" "2193" "0" "2193" "0" "c.2193G>C" "r.(?)" "p.(Thr731=)" "" "0000727648" "00025340" "50" "2241" "0" "2241" "0" "c.2241G>C" "r.(?)" "p.(Thr747=)" "" "0000727649" "00019020" "30" "1992" "0" "1992" "0" "c.1992C>T" "r.(?)" "p.(Ala664=)" "" "0000727649" "00025340" "30" "2040" "0" "2040" "0" "c.2040C>T" "r.(?)" "p.(Ala680=)" "" "0000727650" "00019020" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(Cys595=)" "" "0000727650" "00025340" "30" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(Cys611=)" "" "0000727651" "00019020" "50" "453" "0" "453" "0" "c.453G>C" "r.(?)" "p.(Glu151Asp)" "" "0000727651" "00025340" "50" "501" "0" "501" "0" "c.501G>C" "r.(?)" "p.(Glu167Asp)" "" "0000730488" "00019020" "70" "748" "0" "748" "0" "c.748G>T" "r.(?)" "p.(Val250Phe)" "" "0000797398" "00019020" "70" "2480" "0" "2480" "0" "c.2480T>C" "r.(?)" "p.(Leu827Pro)" "" "0000855797" "00019020" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ser549Leu)" "" "0000855797" "00025340" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Ser565Leu)" "" "0000855798" "00019020" "50" "44" "-45" "44" "-45" "c.44-45A>C" "r.(=)" "p.(=)" "" "0000855798" "00025340" "50" "47" "0" "47" "0" "c.47A>C" "r.(?)" "p.(Gln16Pro)" "" "0000866420" "00019020" "90" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(Arg714*)" "" "0000866420" "00025340" "90" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Arg730*)" "" "0000866421" "00019020" "50" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Met250Thr)" "" "0000866421" "00025340" "50" "797" "0" "797" "0" "c.797T>C" "r.(?)" "p.(Met266Thr)" "" "0000866422" "00019020" "50" "361" "0" "361" "0" "c.361G>T" "r.(?)" "p.(Ala121Ser)" "" "0000866422" "00025340" "50" "409" "0" "409" "0" "c.409G>T" "r.(?)" "p.(Ala137Ser)" "" "0000866423" "00019020" "70" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "" "0000866423" "00025340" "70" "-1456" "0" "-1456" "0" "c.-1456G>C" "r.(?)" "p.(=)" "" "0000921847" "00025340" "90" "2240" "1" "2240" "1" "c.2240+1G>A" "r.spl" "p.?" "" "0000921931" "00025340" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "" "0000983771" "00019020" "50" "2582" "0" "2582" "0" "c.2582T>C" "r.(?)" "p.(Ile861Thr)" "" "0000983771" "00025340" "50" "2630" "0" "2630" "0" "c.2630T>C" "r.(?)" "p.(Ile877Thr)" "" "0000983772" "00019020" "50" "2176" "0" "2176" "0" "c.2176G>A" "r.(?)" "p.(Gly726Arg)" "" "0000983772" "00025340" "50" "2224" "0" "2224" "0" "c.2224G>A" "r.(?)" "p.(Gly742Arg)" "" "0000983773" "00019020" "70" "729" "1" "729" "1" "c.729+1G>T" "r.spl?" "p.?" "" "0000983773" "00025340" "70" "777" "1" "777" "1" "c.777+1G>T" "r.spl?" "p.?" "" "0000983774" "00019020" "50" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Gln222*)" "" "0000983774" "00025340" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Gln238*)" "" "0000983775" "00019020" "50" "61" "0" "61" "0" "c.61T>C" "r.(?)" "p.(Ser21Pro)" "" "0000983775" "00025340" "50" "109" "0" "109" "0" "c.109T>C" "r.(?)" "p.(Ser37Pro)" "" "0001005337" "00019020" "50" "2362" "0" "2362" "0" "c.2362C>A" "r.(?)" "p.(Arg788Ser)" "" "0001005337" "00025340" "50" "2410" "0" "2410" "0" "c.2410C>A" "r.(?)" "p.(Arg804Ser)" "" "0001005338" "00019020" "50" "1373" "0" "1373" "0" "c.1373A>T" "r.(?)" "p.(Tyr458Phe)" "" "0001005338" "00025340" "50" "1421" "0" "1421" "0" "c.1421A>T" "r.(?)" "p.(Tyr474Phe)" "" "0001005339" "00019020" "50" "379" "0" "379" "0" "c.379G>C" "r.(?)" "p.(Glu127Gln)" "" "0001005339" "00025340" "50" "427" "0" "427" "0" "c.427G>C" "r.(?)" "p.(Glu143Gln)" "" "0001005340" "00019020" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Ala110Val)" "" "0001005340" "00025340" "50" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ala126Val)" "" "0001005341" "00019020" "30" "239" "0" "239" "0" "c.239C>G" "r.(?)" "p.(Thr80Ser)" "" "0001005341" "00025340" "30" "287" "0" "287" "0" "c.287C>G" "r.(?)" "p.(Thr96Ser)" "" "0001005342" "00019020" "30" "44" "-364" "44" "-364" "c.44-364C>G" "r.(=)" "p.(=)" "" "0001005342" "00025340" "30" "-273" "0" "-273" "0" "c.-273C>G" "r.(?)" "p.(=)" "" "0001005343" "00019020" "50" "44" "-476" "44" "-476" "c.44-476A>G" "r.(=)" "p.(=)" "" "0001005343" "00025340" "50" "-385" "0" "-385" "0" "c.-385A>G" "r.(?)" "p.(=)" "" "0001043313" "00019020" "50" "2587" "0" "2587" "0" "c.2587G>C" "r.(?)" "p.(Ala863Pro)" "" "0001043313" "00025340" "50" "2635" "0" "2635" "0" "c.2635G>C" "r.(?)" "p.(Ala879Pro)" "" "0001043314" "00019020" "50" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(=)" "" "0001043314" "00025340" "50" "1362" "0" "1362" "0" "c.1362G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 90 "{{screeningid}}" "{{variantid}}" "0000207387" "0000437036" "0000207388" "0000437037" "0000207389" "0000437038" "0000207390" "0000437039" "0000207391" "0000437040" "0000207392" "0000437041" "0000207393" "0000437042" "0000207394" "0000437043" "0000207395" "0000437044" "0000207396" "0000437045" "0000207397" "0000437046" "0000207398" "0000437047" "0000207399" "0000437048" "0000207400" "0000437049" "0000207400" "0000437055" "0000207401" "0000437050" "0000207402" "0000437051" "0000207403" "0000437052" "0000207404" "0000437053" "0000207405" "0000437054" "0000207406" "0000437056" "0000207407" "0000437057" "0000207408" "0000437058" "0000207409" "0000437059" "0000207410" "0000437060" "0000207411" "0000437061" "0000207412" "0000437062" "0000207413" "0000437063" "0000207414" "0000437064" "0000207415" "0000437065" "0000207416" "0000437066" "0000207417" "0000437067" "0000207418" "0000437068" "0000207419" "0000437069" "0000207420" "0000437070" "0000207421" "0000437071" "0000207422" "0000437072" "0000207423" "0000437073" "0000207424" "0000437074" "0000207425" "0000437075" "0000207426" "0000437076" "0000207426" "0000437082" "0000207427" "0000437077" "0000207427" "0000437079" "0000207428" "0000437078" "0000207428" "0000437084" "0000207429" "0000437080" "0000207430" "0000437081" "0000207431" "0000437083" "0000207432" "0000437085" "0000207432" "0000437090" "0000207433" "0000437086" "0000207434" "0000437087" "0000207435" "0000437088" "0000207436" "0000437089" "0000207437" "0000437091" "0000207438" "0000437092" "0000207439" "0000437093" "0000207440" "0000437094" "0000207441" "0000437095" "0000207442" "0000437096" "0000207443" "0000437097" "0000207444" "0000437098" "0000207445" "0000437099" "0000207446" "0000437100" "0000207447" "0000437101" "0000207447" "0000437106" "0000207448" "0000437102" "0000207449" "0000437103" "0000207450" "0000437104" "0000207451" "0000437105" "0000207452" "0000437107" "0000207453" "0000437108" "0000219449" "0000454305" "0000219449" "0000454306" "0000219450" "0000454307" "0000219450" "0000454308" "0000219451" "0000454310" "0000219452" "0000454311" "0000219452" "0000454312" "0000294082" "0000650771" "0000294083" "0000650772" "0000294084" "0000650773" "0000294085" "0000650774" "0000305981" "0000669669" "0000305982" "0000669670" "0000333074" "0000730488" "0000383337" "0000797398" "0000435674" "0000921847" "0000435674" "0000921931"