### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC4A1) # 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}}" "SLC4A1" "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)" "17" "q21.31" "unknown" "NG_007498.1" "UD_132118305418" "" "https://www.LOVD.nl/SLC4A1" "" "1" "11027" "6521" "109270" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SLC4A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-15 10:16:21" "00000" "2025-05-05 21:14:00" ## 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}}" "00019010" "SLC4A1" "solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)" "001" "NM_000342.3" "" "NP_000333.1" "" "" "" "-149" "4804" "2736" "42345502" "42325758" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{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" "00309" "MLRS" "malaria, susceptibility to" "" "611162" "" "" "" "00006" "2014-01-24 11:34:13" "00006" "2021-12-14 08:45:33" "01195" "DI" "blood group system, Diego system" "" "110500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01208" "WD" "blood group system, Waldner type (WD)" "" "112010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "01209" "WR" "blood group system, Wright antigen (WR)" "" "112050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "01539" "RTADD" "acidosis, tubular, renal, distal, autosomal dominant (RTADD)" "AD" "179800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02373" "SW" "blood group system, Swann system (SW)" "" "601550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "02374" "FR" "blood group system, Froese" "" "601551" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03042" "-" "acidosis, tubular, renal, distal, with hemolytic anemia" "AR" "611590" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03174" "SPH4" "spherocytosis, type 4 (SPH4)" "AD" "612653" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-09-15 10:15:54" "05833" "SPH" "spherocytosis (SPH)" "" "" "" "" "" "00006" "2020-09-15 10:11:26" "" "" "05872" "SAO" "ovalocytosis, South Asian type (SAO)" "AD" "166900" "" "" "" "00006" "2020-11-08 10:47:16" "" "" "06326" "CHC" "cryohydrocytosis" "AD" "185020" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{geneid}}" "{{diseaseid}}" "SLC4A1" "00309" "SLC4A1" "01195" "SLC4A1" "01208" "SLC4A1" "01209" "SLC4A1" "01539" "SLC4A1" "02373" "SLC4A1" "02374" "SLC4A1" "03042" "SLC4A1" "03174" "SLC4A1" "05833" "SLC4A1" "05872" "SLC4A1" "06326" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00164740" "" "" "" "1" "" "02498" "" "" "" "" "Pakistan" "" "0" "" "" "Burusho" "DiaBur00351" "00291742" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291743" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291744" "" "" "" "177" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291745" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291746" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291747" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291748" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291749" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291750" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291751" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291752" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291753" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291754" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291755" "" "" "" "208" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291756" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291757" "" "" "" "168" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304579" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304580" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304581" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304582" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304583" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304584" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00310045" "" "" "" "1" "" "03531" "" "" "M" "no" "Tunisia" "" "" "" "" "" "" "00316201" "" "" "" "1" "" "03531" "" "" "M" "yes" "Tunisia" "" "" "" "" "" "" "00318190" "" "" "" "2" "" "03531" "" "" "" "" "" "" "" "" "" "" "" "00318192" "" "" "" "1" "" "03531" "" "" "" "" "Tunisia" "" "" "" "" "" "" "00318193" "" "" "" "1" "" "03531" "" "" "" "" "Tunisia" "" "" "" "" "" "" "00318194" "" "" "" "1" "" "03531" "" "" "" "" "Tunisia" "" "" "" "" "" "" "00319387" "" "" "" "1" "" "03531" "" "" "" "" "Tunisia" "" "" "" "" "" "" "00319388" "" "" "" "1" "" "03531" "" "" "" "" "Tunisia" "" "0" "" "" "" "" "00319895" "" "" "" "1" "" "03531" "" "" "" "" "Tunisia" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00164740" "00198" "00291742" "00198" "00291743" "00198" "00291744" "00198" "00291745" "00198" "00291746" "00198" "00291747" "00198" "00291748" "00198" "00291749" "00198" "00291750" "00198" "00291751" "00198" "00291752" "00198" "00291753" "00198" "00291754" "00198" "00291755" "00198" "00291756" "00198" "00291757" "00198" "00304579" "00198" "00304580" "00198" "00304581" "00198" "00304582" "00198" "00304583" "00198" "00304584" "00198" "00310045" "03174" "00316201" "03174" "00318190" "03174" "00318192" "03174" "00318193" "03174" "00318194" "03174" "00319387" "03174" "00319388" "05872" "00319895" "03174" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00309, 01195, 01208, 01209, 01539, 02373, 02374, 03042, 03174, 05833, 05872, 06326 ## Count = 1 "{{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}}" "0000129777" "00198" "00164740" "02498" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165607" "00164740" "1" "02498" "02498" "2018-06-07 11:07:11" "" "" "arraySNP;PCR" "DNA" "" "" "0000292910" "00291742" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292911" "00291743" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292912" "00291744" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292913" "00291745" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292914" "00291746" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292915" "00291747" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292916" "00291748" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292917" "00291749" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292918" "00291750" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292919" "00291751" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292920" "00291752" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292921" "00291753" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292922" "00291754" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292923" "00291755" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292924" "00291756" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292925" "00291757" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305708" "00304579" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305709" "00304580" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305710" "00304581" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305711" "00304582" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305712" "00304583" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305713" "00304584" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000311194" "00310045" "1" "03531" "03531" "2020-09-08 14:10:27" "00006" "2020-09-11 11:51:24" "PCR;SEQ" "DNA" "" "" "0000317383" "00316201" "1" "03531" "03531" "2020-11-03 15:53:02" "" "" "SEQ" "DNA" "" "" "0000319372" "00318190" "1" "03531" "03531" "2020-11-06 11:53:20" "" "" "SEQ" "DNA" "" "" "0000319374" "00318192" "1" "03531" "03531" "2020-11-06 12:06:01" "" "" "SEQ" "DNA" "" "" "0000319375" "00318193" "1" "03531" "03531" "2020-11-06 12:12:14" "" "" "SEQ" "DNA" "" "" "0000319376" "00318194" "1" "03531" "03531" "2020-11-06 12:16:16" "" "" "SEQ" "DNA" "" "" "0000320568" "00319387" "1" "03531" "03531" "2020-11-06 12:23:32" "" "" "SEQ" "DNA" "" "" "0000320569" "00319388" "1" "03531" "03531" "2020-11-06 12:30:46" "" "" "SEQ" "DNA" "" "" "0000321076" "00319895" "1" "03531" "03531" "2020-11-10 13:46:14" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000165607" "SLC4A1" "0000311194" "SLC4A1" "0000317383" "SLC4A1" "0000319372" "SLC4A1" "0000319374" "SLC4A1" "0000319375" "SLC4A1" "0000319376" "SLC4A1" "0000320568" "SLC4A1" "0000320569" "SLC4A1" "0000321076" "SLC4A1" ## 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 = 133 "{{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}}" "0000251605" "0" "10" "17" "42329004" "42329004" "subst" "0.625025" "02326" "SLC4A1_000038" "g.42329004A>C" "" "" "" "SLC4A1(NM_000342.4):c.2312-48T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44251636A>C" "" "benign" "" "0000251606" "0" "10" "17" "42333310" "42333310" "subst" "0" "02326" "SLC4A1_000011" "g.42333310A>G" "" "" "" "SLC4A1(NM_000342.4):c.1627-96T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44255942A>G" "" "benign" "" "0000251607" "0" "10" "17" "42334652" "42334652" "subst" "0" "02326" "SLC4A1_000012" "g.42334652A>G" "" "" "" "SLC4A1(NM_000342.4):c.1626+66T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44257284A>G" "" "benign" "" "0000251608" "0" "10" "17" "42338248" "42338248" "subst" "0" "02326" "SLC4A1_000028" "g.42338248A>G" "" "" "" "SLC4A1(NM_000342.4):c.169-65T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44260880A>G" "" "benign" "" "0000252523" "0" "90" "17" "42328920" "42328920" "subst" "0" "02326" "SLC4A1_000004" "g.42328920A>T" "" "" "" "SLC4A1(NM_000342.4):c.2348T>A (p.I783N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44251552A>T" "" "pathogenic" "" "0000298313" "0" "10" "17" "42335387" "42335387" "subst" "0.0336561" "02325" "SLC4A1_000016" "g.42335387G>A" "" "" "" "SLC4A1(NM_000342.4):c.1249C>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44258019G>A" "" "benign" "" "0000302242" "0" "10" "17" "42326599" "42326599" "subst" "0.00391433" "02326" "SLC4A1_000001" "g.42326599T>G" "" "" "" "SLC4A1(NM_000342.4):c.*1227A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44249231T>G" "" "benign" "" "0000302243" "0" "10" "17" "42339952" "42339952" "subst" "0" "02326" "SLC4A1_000033" "g.42339952C>G" "" "" "" "SLC4A1(NM_000342.4):c.106+52G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44262584C>G" "" "benign" "" "0000302244" "0" "10" "17" "42339949" "42339949" "subst" "0" "02326" "SLC4A1_000032" "g.42339949G>T" "" "" "" "SLC4A1(NM_000342.4):c.106+55C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44262581G>T" "" "benign" "" "0000302246" "0" "10" "17" "42335685" "42335685" "subst" "0" "02326" "SLC4A1_000017" "g.42335685G>A" "" "" "" "SLC4A1(NM_000342.4):c.1087+96C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44258317G>A" "" "benign" "" "0000302247" "0" "10" "17" "42338998" "42338998" "subst" "0.033528" "02326" "SLC4A1_000030" "g.42338998T>G" "" "" "" "SLC4A1(NM_000342.4):c.113A>C (p.D38A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44261630T>G" "" "benign" "" "0000302248" "0" "10" "17" "42335387" "42335387" "subst" "0.0336561" "02326" "SLC4A1_000016" "g.42335387G>A" "" "" "" "SLC4A1(NM_000342.4):c.1249C>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44258019G>A" "" "benign" "" "0000302249" "0" "10" "17" "42335197" "42335197" "subst" "0.00334174" "02326" "SLC4A1_000015" "g.42335197G>C" "" "" "" "SLC4A1(NM_000342.4):c.1283-22C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44257829G>C" "" "benign" "" "0000302250" "0" "10" "17" "42335135" "42335135" "subst" "0.0523922" "02326" "SLC4A1_000014" "g.42335135C>T" "" "" "" "SLC4A1(NM_000342.4):c.1323G>A (p.L441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44257767C>T" "" "benign" "" "0000302251" "0" "10" "17" "42334950" "42334950" "subst" "0.150836" "02326" "SLC4A1_000013" "g.42334950T>C" "" "" "" "SLC4A1(NM_000342.4):c.1432-38A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44257582T>C" "" "benign" "" "0000302252" "0" "10" "17" "42340108" "42340108" "subst" "0.0137022" "02326" "SLC4A1_000035" "g.42340108C>T" "" "" "" "SLC4A1(NM_000342.4):c.16-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44262740C>T" "" "benign" "" "0000302253" "0" "10" "17" "42338945" "42338945" "subst" "0.0442653" "02326" "SLC4A1_000029" "g.42338945T>C" "" "" "" "SLC4A1(NM_000342.4):c.166A>G (p.K56E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44261577T>C" "" "benign" "" "0000302254" "0" "90" "17" "42333076" "42333076" "subst" "0" "02326" "SLC4A1_000010" "g.42333076G>A" "" "" "" "SLC4A1(NM_000342.4):c.1765C>T (p.R589C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44255708G>A" "" "pathogenic" "" "0000302255" "0" "10" "17" "42333071" "42333071" "subst" "0.0162279" "02326" "SLC4A1_000009" "g.42333071C>T" "" "" "" "SLC4A1(NM_000342.4):c.1770G>A (p.K590=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44255703C>T" "" "benign" "" "0000302256" "0" "10" "17" "42332803" "42332803" "subst" "0" "02326" "SLC4A1_000007" "g.42332803C>T" "" "" "" "SLC4A1(NM_000342.4):c.1801-139G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44255435C>T" "" "benign" "" "0000302257" "0" "10" "17" "42332808" "42332808" "subst" "0" "02326" "SLC4A1_000008" "g.42332808T>C" "" "" "" "SLC4A1(NM_000342.4):c.1801-144A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44255440T>C" "" "benign" "" "0000302258" "0" "10" "17" "42332752" "42332752" "subst" "0" "02326" "SLC4A1_000006" "g.42332752C>G" "" "" "" "SLC4A1(NM_000342.4):c.1801-88G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44255384C>G" "" "benign" "" "0000302259" "0" "90" "17" "42331863" "42331863" "subst" "0" "02326" "SLC4A1_000005" "g.42331863C>T" "" "" "" "SLC4A1(NM_000342.4):c.2057+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44254495C>T" "" "pathogenic" "" "0000302260" "0" "10" "17" "42338136" "42338136" "subst" "0.00591403" "02326" "SLC4A1_000027" "g.42338136C>A" "" "" "" "SLC4A1(NM_000342.3):c.216G>T (p.(Glu72Asp)), SLC4A1(NM_000342.4):c.216G>T (p.E72D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44260768C>A" "" "benign" "" "0000302261" "0" "10" "17" "42328598" "42328598" "subst" "0.00705763" "02326" "SLC4A1_000003" "g.42328598C>T" "" "" "" "SLC4A1(NM_000342.4):c.2584G>A (p.V862I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44251230C>T" "" "benign" "" "0000302262" "0" "10" "17" "42327850" "42327850" "subst" "0.0200556" "02326" "SLC4A1_000002" "g.42327850G>A" "" "" "" "SLC4A1(NM_000342.4):c.2712C>T (p.Y904=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44250482G>A" "" "benign" "" "0000302263" "0" "10" "17" "42337976" "42337976" "subst" "0.188565" "02326" "SLC4A1_000025" "g.42337976G>A" "" "" "" "SLC4A1(NM_000342.4):c.349+27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44260608G>A" "" "benign" "" "0000302264" "0" "90" "17" "42340073" "42340073" "subst" "0" "02326" "SLC4A1_000034" "g.42340073C>A" "" "" "" "SLC4A1(NM_000342.4):c.37G>T (p.E13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44262705C>A" "" "pathogenic" "" "0000302265" "0" "10" "17" "42337247" "42337247" "subst" "0.00343971" "02326" "SLC4A1_000024" "g.42337247C>T" "" "" "" "SLC4A1(NM_000342.3):c.539G>A (p.R180H, p.(Arg180His)), SLC4A1(NM_000342.4):c.539G>A (p.R180H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44259879C>T" "" "benign" "" "0000302266" "0" "10" "17" "42337091" "42337091" "subst" "0" "02326" "SLC4A1_000023" "g.42337091C>T" "" "" "" "SLC4A1(NM_000342.4):c.609+86G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44259723C>T" "" "benign" "" "0000302268" "0" "10" "17" "42337055" "42337055" "dup" "0" "02326" "SLC4A1_000022" "g.42337055dup" "" "" "" "SLC4A1(NM_000342.4):c.610-101dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44259687dup" "" "benign" "" "0000302269" "0" "10" "17" "42336981" "42336981" "subst" "0.0335134" "02326" "SLC4A1_000020" "g.42336981C>T" "" "" "" "SLC4A1(NM_000342.4):c.610-32G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44259613C>T" "" "benign" "" "0000302270" "0" "10" "17" "42336783" "42336783" "subst" "0" "02326" "SLC4A1_000019" "g.42336783G>A" "" "" "" "SLC4A1(NM_000342.4):c.695-71C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44259415G>A" "" "benign" "" "0000308462" "0" "50" "17" "42338066" "42338066" "subst" "0.00029655" "01943" "SLC4A1_000026" "g.42338066G>A" "" "" "" "SLC4A1(NM_000342.3):c.286C>T (p.R96C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44260698G>A" "" "VUS" "" "0000308463" "0" "50" "17" "42336640" "42336654" "del" "0" "01943" "SLC4A1_000018" "g.42336640_42336654del" "" "" "" "SLC4A1(NM_000342.3):c.760_774delGAGGCGGTGGAGCTG (p.E254_L258del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44259272_44259286del" "" "VUS" "" "0000340058" "0" "10" "17" "42335135" "42335135" "subst" "0.0523922" "02327" "SLC4A1_000014" "g.42335135C>T" "" "" "" "SLC4A1(NM_000342.4):c.1323G>A (p.L441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44257767C>T" "" "benign" "" "0000340059" "0" "10" "17" "42335387" "42335387" "subst" "0.0336561" "02327" "SLC4A1_000016" "g.42335387G>A" "" "" "" "SLC4A1(NM_000342.4):c.1249C>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44258019G>A" "" "benign" "" "0000346230" "0" "70" "17" "42330695" "42330695" "subst" "3.26331E-5" "02327" "SLC4A1_000036" "g.42330695C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44253327C>T" "" "likely pathogenic" "" "0000347598" "0" "10" "17" "42338945" "42338945" "subst" "0.0442653" "02327" "SLC4A1_000029" "g.42338945T>C" "" "" "" "SLC4A1(NM_000342.4):c.166A>G (p.K56E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44261577T>C" "" "benign" "" "0000347811" "0" "50" "17" "42340018" "42340018" "subst" "0.000238238" "02327" "SLC4A1_000037" "g.42340018A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44262650A>G" "" "VUS" "" "0000369338" "0" "90" "17" "42328621" "42328621" "subst" "0.00831552" "02498" "SLC4A1_000039" "g.42328621G>A" "1/.." "" "" "" "" "Germline" "" "" "0" "" "" "g.44251253G>A" "" "pathogenic" "" "0000561891" "0" "70" "17" "42332640" "42332640" "subst" "0" "02327" "SLC4A1_000040" "g.42332640C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44255272C>T" "" "likely pathogenic" "" "0000561892" "0" "30" "17" "42335127" "42335127" "subst" "2.85091E-5" "01804" "SLC4A1_000041" "g.42335127G>T" "" "" "" "SLC4A1(NM_000342.3):c.1331C>A (p.(Thr444Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44257759G>T" "" "likely benign" "" "0000561894" "0" "10" "17" "42336694" "42336694" "subst" "0.00156841" "02326" "SLC4A1_000042" "g.42336694T>A" "" "" "" "SLC4A1(NM_000342.4):c.713A>T (p.E238V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44259326T>A" "" "benign" "" "0000561895" "0" "30" "17" "42338136" "42338136" "subst" "0.00591403" "01804" "SLC4A1_000027" "g.42338136C>A" "" "" "" "SLC4A1(NM_000342.3):c.216G>T (p.(Glu72Asp)), SLC4A1(NM_000342.4):c.216G>T (p.E72D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44260768C>A" "" "likely benign" "" "0000561897" "0" "10" "17" "42338993" "42338993" "subst" "0.0105055" "02326" "SLC4A1_000043" "g.42338993C>T" "" "" "" "SLC4A1(NM_000342.4):c.118G>A (p.E40K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44261625C>T" "" "benign" "" "0000561898" "0" "10" "17" "42339121" "42339121" "dup" "0" "02326" "SLC4A1_000044" "g.42339121dup" "" "" "" "SLC4A1(NM_000342.4):c.107-115dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44261753dup" "" "benign" "" "0000616620" "0" "50" "17" "42333075" "42333075" "subst" "0" "02327" "SLC4A1_000045" "g.42333075C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44255707C>A" "" "VUS" "" "0000649599" "1" "30" "17" "42327418" "42327418" "subst" "0" "03575" "SLC4A1_000046" "g.42327418G>A" "37/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "37 heterozygous; {DB:CLININrs45555735}" "Germline" "" "rs45555735" "0" "" "" "g.44250050G>A" "" "likely benign" "" "0000649600" "1" "30" "17" "42327491" "42327491" "subst" "0" "03575" "SLC4A1_000047" "g.42327491C>T" "10/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous; {DB:CLININrs13306777}" "Germline" "" "rs13306777" "0" "" "" "g.44250123C>T" "" "likely benign" "" "0000649601" "1" "30" "17" "42327556" "42327556" "subst" "0" "03575" "SLC4A1_000048" "g.42327556C>T" "177/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "177 heterozygous; {DB:CLININrs5027}" "Germline" "" "rs5027" "0" "" "" "g.44250188C>T" "" "likely benign" "" "0000649602" "1" "90" "17" "42328579" "42328579" "subst" "0.000854365" "03575" "SLC4A1_000049" "g.42328579G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININexm1328243}" "Germline" "" "" "0" "" "" "g.44251211G>A" "" "pathogenic" "" "0000649603" "1" "50" "17" "42328609" "42328609" "subst" "6.9131E-5" "03575" "SLC4A1_000050" "g.42328609G>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs121912751}" "Germline" "" "rs121912751" "0" "" "" "g.44251241G>T" "" "VUS" "" "0000649604" "1" "30" "17" "42328621" "42328621" "subst" "0.00831552" "03575" "SLC4A1_000039" "g.42328621G>A" "27/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININexm1328246}" "Germline" "" "" "0" "" "" "g.44251253G>A" "" "likely benign" "" "0000649605" "1" "70" "17" "42328845" "42328845" "subst" "0" "03575" "SLC4A1_000051" "g.42328845C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININ17:42328845-CT}" "Germline" "" "" "0" "" "" "g.44251477C>T" "" "likely pathogenic" "" "0000649606" "1" "30" "17" "42333071" "42333071" "subst" "0.0162279" "03575" "SLC4A1_000009" "g.42333071C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs35807245}" "Germline" "" "rs35807245" "0" "" "" "g.44255703C>T" "" "likely benign" "" "0000649607" "1" "50" "17" "42335984" "42335984" "subst" "0.000449241" "03575" "SLC4A1_000052" "g.42335984C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININexm1328328}" "Germline" "" "" "0" "" "" "g.44258616C>T" "" "VUS" "" "0000649608" "1" "50" "17" "42337247" "42337247" "subst" "0.00343971" "03575" "SLC4A1_000024" "g.42337247C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININexm1328352}" "Germline" "" "" "0" "" "" "g.44259879C>T" "" "VUS" "" "0000649609" "1" "50" "17" "42338066" "42338066" "subst" "0.00029655" "03575" "SLC4A1_000026" "g.42338066G>A" "15/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININ17:42338066-GA}" "Germline" "" "" "0" "" "" "g.44260698G>A" "" "VUS" "" "0000649610" "1" "30" "17" "42338136" "42338136" "subst" "0.00591403" "03575" "SLC4A1_000027" "g.42338136C>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININexm1328371}" "Germline" "" "" "0" "" "" "g.44260768C>A" "" "likely benign" "" "0000649611" "1" "50" "17" "42338179" "42338179" "subst" "0.000168327" "03575" "SLC4A1_000053" "g.42338179T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININ17:42338179-TC}" "Germline" "" "" "0" "" "" "g.44260811T>C" "" "VUS" "" "0000649612" "1" "30" "17" "42338945" "42338945" "subst" "0.0442653" "03575" "SLC4A1_000029" "g.42338945T>C" "208/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "208 heterozygous; {DB:CLININexm1328375}" "Germline" "" "" "0" "" "" "g.44261577T>C" "" "likely benign" "" "0000649613" "1" "50" "17" "42338993" "42338993" "subst" "0.0105055" "03575" "SLC4A1_000043" "g.42338993C>T" "16/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 16 heterozygous; {DB:CLININexm1328376}" "Germline" "" "" "0" "" "" "g.44261625C>T" "" "VUS" "" "0000649614" "1" "30" "17" "42338998" "42338998" "subst" "0.033528" "03575" "SLC4A1_000030" "g.42338998T>G" "168/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "168 heterozygous; {DB:CLININexm1328377}" "Germline" "" "" "0" "" "" "g.44261630T>G" "" "likely benign" "" "0000658151" "0" "90" "17" "42340073" "42340073" "subst" "0" "02327" "SLC4A1_000034" "g.42340073C>A" "" "" "" "SLC4A1(NM_000342.4):c.37G>T (p.E13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44262705C>A" "" "pathogenic" "" "0000669396" "3" "30" "17" "42327418" "42327418" "subst" "0" "03575" "SLC4A1_000046" "g.42327418G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs45555735}" "Germline" "" "rs45555735" "0" "" "" "g.44250050G>A" "" "likely benign" "" "0000669397" "3" "30" "17" "42327491" "42327491" "subst" "0" "03575" "SLC4A1_000047" "g.42327491C>T" "9/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 homozygous; {DB:CLININrs13306777}" "Germline" "" "rs13306777" "0" "" "" "g.44250123C>T" "" "likely benign" "" "0000669398" "3" "30" "17" "42327556" "42327556" "subst" "0" "03575" "SLC4A1_000048" "g.42327556C>T" "4/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs5027}" "Germline" "" "rs5027" "0" "" "" "g.44250188C>T" "" "likely benign" "" "0000669399" "3" "30" "17" "42338945" "42338945" "subst" "0.0442653" "03575" "SLC4A1_000029" "g.42338945T>C" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININexm1328375}" "Germline" "" "" "0" "" "" "g.44261577T>C" "" "likely benign" "" "0000669400" "3" "50" "17" "42338993" "42338993" "subst" "0.0105055" "03575" "SLC4A1_000043" "g.42338993C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININexm1328376}" "Germline" "" "" "0" "" "" "g.44261625C>T" "" "VUS" "" "0000669401" "3" "30" "17" "42338998" "42338998" "subst" "0.033528" "03575" "SLC4A1_000030" "g.42338998T>G" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININexm1328377}" "Germline" "" "" "0" "" "" "g.44261630T>G" "" "likely benign" "" "0000686515" "11" "70" "17" "42335992" "42335992" "subst" "0" "03531" "SLC4A1_000054" "g.42335992C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000692372" "0" "30" "17" "42337247" "42337247" "subst" "0.00343971" "01943" "SLC4A1_000024" "g.42337247C>T" "" "" "" "SLC4A1(NM_000342.3):c.539G>A (p.R180H, p.(Arg180His)), SLC4A1(NM_000342.4):c.539G>A (p.R180H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699989" "0" "70" "17" "42335837" "42335837" "subst" "0" "03531" "SLC4A1_000055" "g.42335837C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000702082" "10" "90" "17" "42335832" "42335834" "delins" "0" "03531" "SLC4A1_000056" "g.42335832_42335834delinsTAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44258464_44258466delinsTAT" "" "pathogenic" "" "0000702084" "0" "70" "17" "42335444" "42335444" "subst" "0" "03531" "SLC4A1_000057" "g.42335444T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44258076T>A" "" "pathogenic" "" "0000702085" "0" "90" "17" "42335443" "42335443" "subst" "0" "03531" "SLC4A1_000058" "g.42335443G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44258075G>C" "" "pathogenic" "" "0000702086" "0" "70" "17" "42328914" "42328914" "del" "0" "03531" "SLC4A1_000060" "g.42328914del" "" "" "" "2354delT" "" "Germline" "" "" "0" "" "" "g.44251280del" "" "pathogenic" "" "0000703287" "0" "70" "17" "42328651" "42328651" "del" "0" "03531" "SLC4A1_000059" "g.42328651del" "" "" "" "2531delT" "" "Germline" "" "" "0" "" "" "g.44251283del" "" "pathogenic" "" "0000703288" "0" "50" "17" "42332551" "42332551" "del" "0" "03531" "SLC4A1_000061" "g.42332551del" "" "" "" "1890+24delG" "" "Germline" "" "" "0" "" "" "g.44255183del" "" "VUS" "" "0000703856" "0" "70" "17" "42335094" "42335094" "subst" "0" "03531" "SLC4A1_000062" "g.42335094C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44257726C>T" "" "pathogenic" "" "0000726443" "0" "30" "17" "42336609" "42336609" "subst" "0.000890693" "02326" "SLC4A1_000063" "g.42336609A>G" "" "" "" "SLC4A1(NM_000342.4):c.798T>C (p.F266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726444" "0" "90" "17" "42340003" "42340003" "subst" "0" "02326" "SLC4A1_000064" "g.42340003C>T" "" "" "" "SLC4A1(NM_000342.4):c.106+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808036" "0" "90" "17" "42333075" "42333075" "subst" "0" "02327" "SLC4A1_000065" "g.42333075C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854941" "0" "10" "17" "42332587" "42332587" "subst" "0.00293562" "02326" "SLC4A1_000066" "g.42332587A>G" "" "" "" "SLC4A1(NM_000342.4):c.1878T>C (p.D626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854942" "0" "50" "17" "42334822" "42334822" "subst" "0.000320823" "01943" "SLC4A1_000067" "g.42334822C>T" "" "" "" "SLC4A1(NM_000342.3):c.1522G>A (p.E508K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854943" "0" "50" "17" "42335831" "42335831" "subst" "0" "01943" "SLC4A1_000068" "g.42335831C>A" "" "" "" "SLC4A1(NM_000342.3):c.1037G>T (p.R346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865307" "0" "30" "17" "42337988" "42337988" "subst" "0.000548393" "02326" "SLC4A1_000069" "g.42337988G>C" "" "" "" "SLC4A1(NM_000342.4):c.349+15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877317" "0" "70" "17" "42330736" "42330743" "dup" "0" "03779" "SLC4A1_000070" "g.42330736_42330743dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000877440" "0" "70" "17" "42335043" "42335043" "subst" "0" "03779" "SLC4A1_000071" "g.42335043T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000893954" "0" "30" "17" "42327846" "42327846" "subst" "0.00128027" "02326" "SLC4A1_000072" "g.42327846C>G" "" "" "" "SLC4A1(NM_000342.3):c.2716G>C (p.(Glu906Gln)), SLC4A1(NM_000342.4):c.2716G>C (p.E906Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893955" "0" "10" "17" "42328621" "42328621" "subst" "0.00831552" "02326" "SLC4A1_000039" "g.42328621G>A" "" "" "" "SLC4A1(NM_000342.4):c.2561C>T (p.P854L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893956" "0" "30" "17" "42335984" "42335984" "subst" "0.000449241" "02326" "SLC4A1_000052" "g.42335984C>T" "" "" "" "SLC4A1(NM_000342.4):c.884G>A (p.R295H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000899256" "0" "50" "17" "42333105" "42333105" "subst" "0" "03779" "SLC4A1_000073" "g.42333105G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000918223" "0" "70" "17" "42328530" "42328530" "del" "0" "03779" "SLC4A1_000074" "g.42328530del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000926512" "0" "30" "17" "42328928" "42328928" "subst" "0.000187823" "02326" "SLC4A1_000075" "g.42328928C>T" "" "" "" "SLC4A1(NM_000342.4):c.2340G>A (p.L780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926513" "0" "30" "17" "42330697" "42330697" "subst" "0.0025018" "02326" "SLC4A1_000076" "g.42330697G>A" "" "" "" "SLC4A1(NM_000342.4):c.2100C>T (p.S700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926514" "0" "30" "17" "42335397" "42335397" "subst" "0.00222154" "02326" "SLC4A1_000077" "g.42335397G>A" "" "" "" "SLC4A1(NM_000342.4):c.1239C>T (p.Y413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926515" "0" "90" "17" "42335889" "42335904" "dup" "0" "02326" "SLC4A1_000078" "g.42335889_42335904dup" "" "" "" "SLC4A1(NM_000342.4):c.969_984dupCACCGATGCCCCCTCC (p.E329Hfs*47)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927634" "0" "70" "17" "42328672" "42328672" "subst" "0" "03779" "SLC4A1_000079" "g.42328672G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000927635" "0" "70" "17" "42328672" "42328672" "subst" "0" "03779" "SLC4A1_000079" "g.42328672G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000927790" "0" "90" "17" "42333040" "42333040" "subst" "0" "03779" "SLC4A1_000080" "g.42333040C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000932975" "0" "70" "17" "42335963" "42335963" "del" "0" "03779" "SLC4A1_000081" "g.42335963del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000933292" "0" "90" "17" "42332665" "42332665" "del" "0" "03779" "SLC4A1_000082" "g.42332665del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000933294" "0" "90" "17" "42332665" "42332666" "delins" "0" "03779" "SLC4A1_000083" "g.42332665_42332666delinsA" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000952428" "0" "70" "17" "42330519" "42330519" "subst" "0" "03779" "SLC4A1_000084" "g.42330519G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs373916826" "0" "" "" "" "" "likely pathogenic" "" "0000952429" "0" "90" "17" "42340095" "42340095" "subst" "0" "03779" "SLC4A1_000085" "g.42340095C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000968970" "0" "30" "17" "42327923" "42327923" "subst" "0.000334102" "02326" "SLC4A1_000086" "g.42327923G>C" "" "" "" "SLC4A1(NM_000342.4):c.2656-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968971" "0" "30" "17" "42331949" "42331949" "subst" "0.000190913" "02326" "SLC4A1_000087" "g.42331949C>T" "" "" "" "SLC4A1(NM_000342.3):c.1972G>A (p.(Glu658Lys)), SLC4A1(NM_000342.4):c.1972G>A (p.E658K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968972" "0" "30" "17" "42336581" "42336581" "subst" "2.84963E-5" "02326" "SLC4A1_000088" "g.42336581T>C" "" "" "" "SLC4A1(NM_000342.4):c.826A>G (p.I276V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982536" "0" "50" "17" "42331922" "42331922" "subst" "2.03087E-5" "01804" "SLC4A1_000089" "g.42331922A>T" "" "" "" "SLC4A1(NM_000342.4):c.1999T>A (p.(Ser667Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982537" "0" "50" "17" "42331949" "42331949" "subst" "0.000190913" "01804" "SLC4A1_000087" "g.42331949C>T" "" "" "" "SLC4A1(NM_000342.3):c.1972G>A (p.(Glu658Lys)), SLC4A1(NM_000342.4):c.1972G>A (p.E658K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982538" "0" "50" "17" "42332658" "42332658" "subst" "0" "01804" "SLC4A1_000090" "g.42332658G>A" "" "" "" "SLC4A1(NM_000342.4):c.1807C>T (p.(Arg603Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987702" "0" "90" "17" "42333105" "42333105" "del" "0" "03779" "SLC4A1_000091" "g.42333105del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001003301" "0" "30" "17" "42327846" "42327846" "subst" "0.00128027" "01804" "SLC4A1_000072" "g.42327846C>G" "" "" "" "SLC4A1(NM_000342.3):c.2716G>C (p.(Glu906Gln)), SLC4A1(NM_000342.4):c.2716G>C (p.E906Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003302" "0" "50" "17" "42328579" "42328579" "subst" "0.000854365" "01804" "SLC4A1_000049" "g.42328579G>A" "" "" "" "SLC4A1(NM_000342.3):c.2603C>T (p.(Pro868Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003303" "0" "90" "17" "42328609" "42328609" "subst" "6.9131E-5" "02326" "SLC4A1_000050" "g.42328609G>T" "" "" "" "SLC4A1(NM_000342.4):c.2573C>A (p.A858D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003304" "0" "30" "17" "42330648" "42330648" "subst" "2.03464E-5" "01804" "SLC4A1_000092" "g.42330648C>T" "" "" "" "SLC4A1(NM_000342.3):c.2149G>A (p.(Ala717Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003305" "0" "50" "17" "42330717" "42330717" "subst" "8.19169E-6" "01804" "SLC4A1_000093" "g.42330717G>A" "" "" "" "SLC4A1(NM_000342.3):c.2080C>T (p.(Arg694Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003306" "0" "70" "17" "42334888" "42334888" "subst" "0" "01804" "SLC4A1_000094" "g.42334888A>G" "" "" "" "SLC4A1(NM_000342.3):c.1456T>C (p.(Tyr486His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003307" "0" "30" "17" "42334907" "42334907" "subst" "1.62604E-5" "02326" "SLC4A1_000095" "g.42334907G>A" "" "" "" "SLC4A1(NM_000342.4):c.1437C>T (p.C479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003308" "0" "50" "17" "42335509" "42335509" "subst" "1.62624E-5" "01804" "SLC4A1_000096" "g.42335509C>T" "" "" "" "SLC4A1(NM_000342.3):c.1127G>A (p.(Gly376Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003309" "0" "50" "17" "42336860" "42336860" "subst" "0" "01804" "SLC4A1_000097" "g.42336860C>T" "" "" "" "SLC4A1(NM_000342.3):c.694+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003310" "0" "30" "17" "42337247" "42337247" "subst" "0.00343971" "01804" "SLC4A1_000024" "g.42337247C>T" "" "" "" "SLC4A1(NM_000342.3):c.539G>A (p.R180H, p.(Arg180His)), SLC4A1(NM_000342.4):c.539G>A (p.R180H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003311" "0" "30" "17" "42338150" "42338150" "subst" "0.000105948" "01804" "SLC4A1_000098" "g.42338150C>T" "" "" "" "SLC4A1(NM_000342.3):c.202G>A (p.(Glu68Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003312" "0" "50" "17" "42340078" "42340078" "subst" "0" "01804" "SLC4A1_000099" "g.42340078A>G" "" "" "" "SLC4A1(NM_000342.3):c.32T>C (p.(Met11Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008454" "0" "70" "17" "42330511" "42330511" "subst" "0" "03779" "SLC4A1_000100" "g.42330511A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001017519" "0" "70" "17" "42328845" "42328845" "subst" "0" "03779" "SLC4A1_000101" "g.42328845C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001017520" "0" "30" "17" "42337803" "42337803" "subst" "1.22375E-5" "03779" "SLC4A1_000102" "g.42337803C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs55840505" "0" "" "" "" "" "likely benign" "" "0001019175" "0" "90" "17" "42328845" "42328845" "subst" "0" "03779" "SLC4A1_000051" "g.42328845C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs866727908" "0" "" "" "" "" "pathogenic" "" "0001026946" "0" "90" "17" "42328609" "42328609" "subst" "6.9131E-5" "02327" "SLC4A1_000050" "g.42328609G>T" "" "" "" "SLC4A1(NM_000342.4):c.2573C>A (p.A858D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026947" "0" "90" "17" "42334864" "42334864" "subst" "8.12222E-6" "02326" "SLC4A1_000103" "g.42334864C>T" "" "" "" "SLC4A1(NM_000342.4):c.1480G>A (p.G494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041906" "0" "50" "17" "42336647" "42336647" "subst" "0" "01804" "SLC4A1_000104" "g.42336647C>T" "" "" "" "SLC4A1(NM_000342.4):c.760G>A (p.(Glu254Lys))" "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 SLC4A1 ## Count = 133 "{{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}}" "0000251605" "00019010" "10" "2312" "-48" "2312" "-48" "c.2312-48T>G" "r.(=)" "p.(=)" "" "0000251606" "00019010" "10" "1627" "-96" "1627" "-96" "c.1627-96T>C" "r.(=)" "p.(=)" "" "0000251607" "00019010" "10" "1626" "66" "1626" "66" "c.1626+66T>C" "r.(=)" "p.(=)" "" "0000251608" "00019010" "10" "169" "-65" "169" "-65" "c.169-65T>C" "r.(=)" "p.(=)" "" "0000252523" "00019010" "90" "2348" "0" "2348" "0" "c.2348T>A" "r.(?)" "p.(Ile783Asn)" "" "0000298313" "00019010" "10" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Leu417=)" "" "0000302242" "00019010" "10" "3963" "0" "3963" "0" "c.*1227A>C" "r.(=)" "p.(=)" "" "0000302243" "00019010" "10" "106" "52" "106" "52" "c.106+52G>C" "r.(=)" "p.(=)" "" "0000302244" "00019010" "10" "106" "55" "106" "55" "c.106+55C>A" "r.(=)" "p.(=)" "" "0000302246" "00019010" "10" "1087" "96" "1087" "96" "c.1087+96C>T" "r.(=)" "p.(=)" "" "0000302247" "00019010" "10" "113" "0" "113" "0" "c.113A>C" "r.(?)" "p.(Asp38Ala)" "" "0000302248" "00019010" "10" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Leu417=)" "" "0000302249" "00019010" "10" "1283" "-22" "1283" "-22" "c.1283-22C>G" "r.(=)" "p.(=)" "" "0000302250" "00019010" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Leu441=)" "" "0000302251" "00019010" "10" "1432" "-38" "1432" "-38" "c.1432-38A>G" "r.(=)" "p.(=)" "" "0000302252" "00019010" "10" "16" "-14" "16" "-14" "c.16-14G>A" "r.(=)" "p.(=)" "" "0000302253" "00019010" "10" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Lys56Glu)" "" "0000302254" "00019010" "90" "1765" "0" "1765" "0" "c.1765C>T" "r.(?)" "p.(Arg589Cys)" "" "0000302255" "00019010" "10" "1770" "0" "1770" "0" "c.1770G>A" "r.(?)" "p.(Lys590=)" "" "0000302256" "00019010" "10" "1801" "-139" "1801" "-139" "c.1801-139G>A" "r.(=)" "p.(=)" "" "0000302257" "00019010" "10" "1801" "-144" "1801" "-144" "c.1801-144A>G" "r.(=)" "p.(=)" "" "0000302258" "00019010" "10" "1801" "-88" "1801" "-88" "c.1801-88G>C" "r.(=)" "p.(=)" "" "0000302259" "00019010" "90" "2057" "1" "2057" "1" "c.2057+1G>A" "r.spl?" "p.?" "" "0000302260" "00019010" "10" "216" "0" "216" "0" "c.216G>T" "r.(?)" "p.(Glu72Asp)" "" "0000302261" "00019010" "10" "2584" "0" "2584" "0" "c.2584G>A" "r.(?)" "p.(Val862Ile)" "" "0000302262" "00019010" "10" "2712" "0" "2712" "0" "c.2712C>T" "r.(?)" "p.(Tyr904=)" "" "0000302263" "00019010" "10" "349" "27" "349" "27" "c.349+27C>T" "r.(=)" "p.(=)" "" "0000302264" "00019010" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Glu13Ter)" "" "0000302265" "00019010" "10" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0000302266" "00019010" "10" "609" "86" "609" "86" "c.609+86G>A" "r.(=)" "p.(=)" "" "0000302268" "00019010" "10" "610" "-101" "610" "-101" "c.610-101dup" "r.(=)" "p.(=)" "" "0000302269" "00019010" "10" "610" "-32" "610" "-32" "c.610-32G>A" "r.(=)" "p.(=)" "" "0000302270" "00019010" "10" "695" "-71" "695" "-71" "c.695-71C>T" "r.(=)" "p.(=)" "" "0000308462" "00019010" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "" "0000308463" "00019010" "50" "760" "0" "774" "0" "c.760_774del" "r.(?)" "p.(Glu254_Leu258del)" "" "0000340058" "00019010" "10" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Leu441=)" "" "0000340059" "00019010" "10" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Leu417=)" "" "0000346230" "00019010" "70" "2102" "0" "2102" "0" "c.2102G>A" "r.(?)" "p.(Gly701Asp)" "" "0000347598" "00019010" "10" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Lys56Glu)" "" "0000347811" "00019010" "50" "92" "0" "92" "0" "c.92T>C" "r.(?)" "p.(Met31Thr)" "" "0000369338" "00019010" "90" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Pro854Leu)" "" "0000561891" "00019010" "70" "1825" "0" "1825" "0" "c.1825G>A" "r.(?)" "p.(Gly609Arg)" "" "0000561892" "00019010" "30" "1331" "0" "1331" "0" "c.1331C>A" "r.(?)" "p.(Thr444Asn)" "" "0000561894" "00019010" "10" "713" "0" "713" "0" "c.713A>T" "r.(?)" "p.(Glu238Val)" "" "0000561895" "00019010" "30" "216" "0" "216" "0" "c.216G>T" "r.(?)" "p.(Glu72Asp)" "" "0000561897" "00019010" "10" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Glu40Lys)" "" "0000561898" "00019010" "10" "107" "-115" "107" "-115" "c.107-115dup" "r.(=)" "p.(=)" "" "0000616620" "00019010" "50" "1766" "0" "1766" "0" "c.1766G>T" "r.(?)" "p.(Arg589Leu)" "" "0000649599" "00019010" "30" "3144" "0" "3144" "0" "c.*408C>T" "r.(=)" "p.(=)" "" "0000649600" "00019010" "30" "3071" "0" "3071" "0" "c.*335G>A" "r.(=)" "p.(=)" "" "0000649601" "00019010" "30" "3006" "0" "3006" "0" "c.*270G>A" "r.(=)" "p.(=)" "" "0000649602" "00019010" "90" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "" "0000649603" "00019010" "50" "2573" "0" "2573" "0" "c.2573C>A" "r.(?)" "p.(Ala858Asp)" "" "0000649604" "00019010" "30" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Pro854Leu)" "" "0000649605" "00019010" "70" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Arg808His)" "" "0000649606" "00019010" "30" "1770" "0" "1770" "0" "c.1770G>A" "r.(=)" "p.(=)" "" "0000649607" "00019010" "50" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295His)" "" "0000649608" "00019010" "50" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0000649609" "00019010" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "" "0000649610" "00019010" "30" "216" "0" "216" "0" "c.216G>T" "r.(?)" "p.(Glu72Asp)" "" "0000649611" "00019010" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Tyr58Cys)" "" "0000649612" "00019010" "30" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Lys56Glu)" "" "0000649613" "00019010" "50" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Glu40Lys)" "" "0000649614" "00019010" "30" "113" "0" "113" "0" "c.113A>C" "r.(?)" "p.(Asp38Ala)" "" "0000658151" "00019010" "90" "37" "0" "37" "0" "c.37G>T" "r.(?)" "p.(Glu13Ter)" "" "0000669396" "00019010" "30" "3144" "0" "3144" "0" "c.*408C>T" "r.(=)" "p.(=)" "" "0000669397" "00019010" "30" "3071" "0" "3071" "0" "c.*335G>A" "r.(=)" "p.(=)" "" "0000669398" "00019010" "30" "3006" "0" "3006" "0" "c.*270G>A" "r.(=)" "p.(=)" "" "0000669399" "00019010" "30" "166" "0" "166" "0" "c.166A>G" "r.(?)" "p.(Lys56Glu)" "" "0000669400" "00019010" "50" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Glu40Lys)" "" "0000669401" "00019010" "30" "113" "0" "113" "0" "c.113A>C" "r.(?)" "p.(Asp38Ala)" "" "0000686515" "00019010" "70" "877" "-1" "877" "-1" "c.877-1G>A" "r.spl" "p.?" "9i" "0000692372" "00019010" "30" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0000699989" "00019010" "70" "1031" "0" "1031" "0" "c.1031G>C" "r.(?)" "p.(Arg344Pro)" "10" "0000702082" "00019010" "90" "1034" "0" "1036" "0" "c.1034_1036delinsATA" "r.(?)" "p.(Arg345_Arg346delinsAsnSer)" "10" "0000702084" "00019010" "70" "1192" "0" "1192" "0" "c.1192A>T" "r.(?)" "p.(Thr398Ser)" "11" "0000702085" "00019010" "90" "1193" "0" "1193" "0" "c.1193C>G" "r.(?)" "p.(Thr398Arg)" "11" "0000702086" "00019010" "70" "2354" "0" "2354" "0" "c.2354del" "r.(?)" "p.(Leu785Argfs*44)" "18" "0000703287" "00019010" "70" "2531" "0" "2531" "0" "c.2531del" "r.(?)" "p.(Leu844Argfs*7)" "19" "0000703288" "00019010" "50" "1890" "24" "1890" "24" "c.1890+24del" "r.(?)" "p.(=)" "15i" "0000703856" "00019010" "70" "1364" "0" "1364" "0" "c.1364G>A" "r.(?)" "p.(Gly455Glu)" "12" "0000726443" "00019010" "30" "798" "0" "798" "0" "c.798T>C" "r.(?)" "p.(Phe266=)" "" "0000726444" "00019010" "90" "106" "1" "106" "1" "c.106+1G>A" "r.spl?" "p.?" "" "0000808036" "00019010" "90" "1766" "0" "1766" "0" "c.1766G>A" "r.(?)" "p.(Arg589His)" "" "0000854941" "00019010" "10" "1878" "0" "1878" "0" "c.1878T>C" "r.(?)" "p.(Asp626=)" "" "0000854942" "00019010" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Glu508Lys)" "" "0000854943" "00019010" "50" "1037" "0" "1037" "0" "c.1037G>T" "r.(?)" "p.(Arg346Leu)" "" "0000865307" "00019010" "30" "349" "15" "349" "15" "c.349+15C>G" "r.(=)" "p.(=)" "" "0000877317" "00019010" "70" "2061" "0" "2062" "0" "c.2061_2062insGTAGGCTG" "r.(?)" "p.(Ile688ValfsTer3)" "" "0000877440" "00019010" "70" "1415" "0" "1415" "0" "c.1415A>G" "r.(?)" "p.(Glu472Gly)" "" "0000893954" "00019010" "30" "2716" "0" "2716" "0" "c.2716G>C" "r.(?)" "p.(Glu906Gln)" "" "0000893955" "00019010" "10" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Pro854Leu)" "" "0000893956" "00019010" "30" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295His)" "" "0000899256" "00019010" "50" "1736" "0" "1736" "0" "c.1736C>A" "r.(?)" "p.(Ala579Asp)" "" "0000918223" "00019010" "70" "2652" "0" "2652" "0" "c.2652del" "r.(?)" "p.(Gln884HisfsTer144)" "" "0000926512" "00019010" "30" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Leu780=)" "" "0000926513" "00019010" "30" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Ser700=)" "" "0000926514" "00019010" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Tyr413=)" "" "0000926515" "00019010" "90" "969" "0" "984" "0" "c.969_984dup" "r.(?)" "p.(Glu329Hisfs*47)" "" "0000927634" "00019010" "70" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Thr837Met)" "" "0000927635" "00019010" "70" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Thr837Met)" "" "0000927790" "00019010" "90" "1800" "1" "1800" "1" "c.1800+1G>T" "r.(?)" "p.(?)" "" "0000932975" "00019010" "70" "905" "0" "905" "0" "c.905del" "r.(?)" "p.(Gln302ArgfsTer10)" "" "0000933292" "00019010" "90" "1801" "-1" "1801" "-1" "c.1801-1del" "r.(?)" "p.(?)" "" "0000933294" "00019010" "90" "1801" "-2" "1801" "-1" "c.1801-2_1801-1delinsT" "r.(?)" "p.(?)" "" "0000952428" "00019010" "70" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Trp)" "" "0000952429" "00019010" "90" "16" "-1" "16" "-1" "c.16-1G>A" "r.(?)" "p.(?)" "" "0000968970" "00019010" "30" "2656" "-17" "2656" "-17" "c.2656-17C>G" "r.(=)" "p.(=)" "" "0000968971" "00019010" "30" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Glu658Lys)" "" "0000968972" "00019010" "30" "826" "0" "826" "0" "c.826A>G" "r.(?)" "p.(Ile276Val)" "" "0000982536" "00019010" "50" "1999" "0" "1999" "0" "c.1999T>A" "r.(?)" "p.(Ser667Thr)" "" "0000982537" "00019010" "50" "1972" "0" "1972" "0" "c.1972G>A" "r.(?)" "p.(Glu658Lys)" "" "0000982538" "00019010" "50" "1807" "0" "1807" "0" "c.1807C>T" "r.(?)" "p.(Arg603Trp)" "" "0000987702" "00019010" "90" "1737" "0" "1737" "0" "c.1737del" "r.(?)" "p.(Gly580ValfsTer7)" "" "0001003301" "00019010" "30" "2716" "0" "2716" "0" "c.2716G>C" "r.(?)" "p.(Glu906Gln)" "" "0001003302" "00019010" "50" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "" "0001003303" "00019010" "90" "2573" "0" "2573" "0" "c.2573C>A" "r.(?)" "p.(Ala858Asp)" "" "0001003304" "00019010" "30" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Ala717Thr)" "" "0001003305" "00019010" "50" "2080" "0" "2080" "0" "c.2080C>T" "r.(?)" "p.(Arg694Cys)" "" "0001003306" "00019010" "70" "1456" "0" "1456" "0" "c.1456T>C" "r.(?)" "p.(Tyr486His)" "" "0001003307" "00019010" "30" "1437" "0" "1437" "0" "c.1437C>T" "r.(?)" "p.(=)" "" "0001003308" "00019010" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Gly376Asp)" "" "0001003309" "00019010" "50" "694" "5" "694" "5" "c.694+5G>A" "r.spl?" "p.?" "" "0001003310" "00019010" "30" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "" "0001003311" "00019010" "30" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Glu68Lys)" "" "0001003312" "00019010" "50" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(Met11Thr)" "" "0001008454" "00019010" "70" "2286" "0" "2286" "0" "c.2286T>G" "r.(?)" "p.(Ser762Arg)" "" "0001017519" "00019010" "70" "2423" "0" "2423" "0" "c.2423G>T" "r.(?)" "p.(Arg808Leu)" "" "0001017520" "00019010" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0001019175" "00019010" "90" "2423" "0" "2423" "0" "c.2423G>A" "r.(?)" "p.(Arg808His)" "" "0001026946" "00019010" "90" "2573" "0" "2573" "0" "c.2573C>A" "r.(?)" "p.(Ala858Asp)" "" "0001026947" "00019010" "90" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Gly494Ser)" "" "0001041906" "00019010" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Glu254Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000165607" "0000369338" "0000292910" "0000649599" "0000292911" "0000649600" "0000292912" "0000649601" "0000292913" "0000649602" "0000292914" "0000649603" "0000292915" "0000649604" "0000292916" "0000649605" "0000292917" "0000649606" "0000292918" "0000649607" "0000292919" "0000649608" "0000292920" "0000649609" "0000292921" "0000649610" "0000292922" "0000649611" "0000292923" "0000649612" "0000292924" "0000649613" "0000292925" "0000649614" "0000305708" "0000669396" "0000305709" "0000669397" "0000305710" "0000669398" "0000305711" "0000669399" "0000305712" "0000669400" "0000305713" "0000669401" "0000311194" "0000686515" "0000317383" "0000699989" "0000319372" "0000702082" "0000319374" "0000702084" "0000319375" "0000702085" "0000319376" "0000702086" "0000320568" "0000703287" "0000320569" "0000703288" "0000321076" "0000703856"