### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC4A4) # 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}}" "SLC4A4" "solute carrier family 4, sodium bicarbonate cotransporter, member 4" "4" "q13.3" "unknown" "NG_012653.1" "UD_132118370867" "" "https://www.LOVD.nl/SLC4A4" "" "1" "11030" "8671" "603345" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/SLC4A4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-06-28 16:15:26" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024277" "SLC4A4" "solute carrier family 4 (sodium bicarbonate cotransporter), member 4, transcript variant 1" "001" "NM_001098484.2" "" "NP_001091954.1" "" "" "" "-117" "7576" "3240" "72053003" "72437804" "00006" "2017-06-28 16:14:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02491" "-" "acidosis, tubular, renal, proximal, with ocular abnormalities and mental retardation" "AR" "604278" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC4A4" "02491" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00117565" "" "" "" "2" "" "02077" "{PMID:Igarashi 2001:11274232}" "2-generation family, unaffected carrier parents" "" "?" "Japan" "" "0" "" "" "" "" "00117566" "" "" "" "2" "" "02077" "" "2-generation family, unaffected carrier parents" "" "yes" "Japan" "" "0" "" "" "" "" "00117567" "" "" "" "1" "" "02077" "{PMID:Demirci 2006:16636648}" "patient adopted" "M" "?" "United States" "" "0" "" "" "" "" "00117568" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, 3 unaffected carriers" "F" "no" "United States" "" "0" "" "" "Jewish" "" "00117569" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Japan" "" "0" "" "" "" "" "00117570" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, unaffected carrier parents" "F" "yes" "Japan" "" "0" "" "" "" "" "00117571" "" "" "" "2" "" "02077" "" "2-generation family, unaffected carrier parents" "" "no" "Japan" "" "0" "" "" "" "" "00117572" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, unaffected carrier parents" "F" "no" "China" "" "0" "" "" "" "" "00117573" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "" "" "0" "" "" "Europe, North; white" "" "00117574" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, unaffected carrier parents" "F" "yes" "Japan" "" "0" "" "" "" "" "00117575" "" "" "" "2" "" "02077" "" "2-generation family, 1 affected, unaffected carrier parents" "F" "yes" "Japan" "" "0" "" "" "" "" "00117576" "" "" "" "4" "" "02077" "" "4-generation family, 2 affected sisters, 6 unaffected carriers" "F" "?" "Japan" "" "0" "" "" "" "" "00117577" "" "" "" "1" "" "02077" "" "4-generation family, 2 affected sisters, 6 unaffected carriers" "F" "?" "Japan" "" "0" "" "" "" "" "00293659" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303298" "" "" "" "1" "" "00006" "Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Pat3" "00331850" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "11DG0394" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00117565" "02491" "00117566" "02491" "00117567" "02491" "00117568" "02491" "00117569" "02491" "00117570" "02491" "00117571" "02491" "00117572" "02491" "00117573" "02491" "00117574" "02491" "00117575" "02491" "00117576" "02491" "00117577" "02491" "00293659" "00198" "00303298" "05611" "00331850" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02491, 04214, 05611 ## Count = 15 "{{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}}" "0000093035" "02491" "00117565" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); mental retardation, growth retardation, glaucoma, no evidence cataracts/band keratopathy" "" "" "" "" "" "" "" "" "" "" "" "0000093036" "02491" "00117566" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); mental retardation, growth retardation, glaucoma, cataracts, band keratopathy; elevated serum amylase; calcification of basal ganglia" "" "" "" "" "" "" "" "" "" "" "" "0000093037" "02491" "00117567" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, glaucoma, cataracts, and band keratopathy. Dental abnormalities. Migraines." "" "" "" "" "" "" "" "" "" "" "" "0000093038" "02491" "00117568" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, and cataracts. Poor dentition. Normal intelligence. No specific mention of band keratopathy, but corneal clouding was evident. Also some evidence of respiratory acidosis (i.e. elevated pCO2)." "" "" "" "" "" "" "" "" "" "" "" "0000093039" "02491" "00117569" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, and band keratopathy. No specific mention of mental retardation or glaucoma." "" "" "" "" "" "" "" "" "" "" "" "0000093040" "02491" "00117570" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, and band keratopathy. Normal intelligence and no glaucoma." "" "" "" "" "" "" "" "" "" "" "" "0000093041" "02491" "00117571" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, cataracts, band keratopathy; no mention mental retardation; migraines" "" "" "" "" "" "" "" "" "" "" "" "0000093042" "02491" "00117572" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Growth retardation, glaucoma, cataracts, and band keratopathy. Calcification of basal ganglia. No mention of mental retardation." "" "" "" "" "" "" "" "" "" "" "" "0000093043" "02491" "00117573" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Growth retardation, cataracts, band keratopathy. Dental abnormalities. Calcification of basal ganglia. Normal intelligence. No glaucoma, but elevated ocular pressure. Elevated serum lipase and amylase9." "" "" "" "" "" "" "" "" "" "" "" "0000093044" "02491" "00117574" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, low weight, glaucoma, cataracts, band keratopathy, and calcification of basal ganglia (17)." "" "" "" "" "" "" "" "" "" "" "" "0000093045" "02491" "00117575" "02077" "Isolated (sporadic)" "" "renal tubular acidosis, proximal (pRTA); Growth retardation, glaucoma, cataracts. No specific mention of mental retardation or band keratopathy. Elevated serum amylase. Migraines(5)." "" "" "" "" "" "" "" "" "" "" "" "0000093046" "02491" "00117576" "02077" "Familial, autosomal recessive" "" "renal tubular acidosis, proximal (pRTA); glaucoma, cataracts, band keratopathy, hemiplegic migraine, normal intelligence/stature, epilepsy, nausea" "" "" "" "" "" "" "" "" "" "" "" "0000093047" "02491" "00117577" "02077" "Familial, autosomal recessive" "" "renal tubular acidosis, proximal (pRTA);" "" "" "" "" "" "" "" "" "" "" "" "0000230374" "05611" "00303298" "00006" "Isolated (sporadic)" "16y" "height 162.6 cm (SD −1.6), weight 67.5kg (SD 0.40); mild developmental delay/intellectual disability; 14m-walk; 2.5y-first words, 3y-speech therapy; no regression; no seizures; ultrasound brain normal; no muscular hypotonia; autistic features in infancy; ventricle septum defect, bicuspid aortic valve, hypoplastic aortic arch, dilated cardiomyopathy; unilateral agenesis; cryptorchidism; tracheesophageal fistula, imperforate anus; sacrum segmentation anomaly, brachydactyly; tethered cord, hypothyroidism" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000250042" "04214" "00331850" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, band keratopathy" "" "" "" "" "" "" "" "" "" "glaucoma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000118028" "00117565" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118029" "00117566" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "SEQ" "DNA" "" "" "0000118030" "00117567" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "SEQ" "DNA" "" "" "0000118031" "00117568" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118032" "00117569" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118033" "00117570" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "SEQ" "DNA" "" "" "0000118034" "00117571" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118035" "00117572" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "SEQ" "DNA" "" "" "0000118036" "00117573" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118037" "00117574" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118038" "00117575" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118039" "00117576" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000118040" "00117577" "1" "02077" "02077" "2012-05-18 20:09:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000294827" "00293659" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304423" "00303298" "1" "00006" "00006" "2020-06-09 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333069" "00331850" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000118028" "SLC4A4" "0000118029" "SLC4A4" "0000118030" "SLC4A4" "0000118031" "SLC4A4" "0000118032" "SLC4A4" "0000118033" "SLC4A4" "0000118034" "SLC4A4" "0000118035" "SLC4A4" "0000118036" "SLC4A4" "0000118037" "SLC4A4" "0000118038" "SLC4A4" "0000118039" "SLC4A4" "0000118040" "SLC4A4" "0000304423" "SCAF4" "0000333069" "SLC4A4" ## 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 = 82 "{{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}}" "0000193997" "0" "10" "4" "72316251" "72316251" "subst" "0" "02077" "SLC4A4_000013" "g.72316251C>A" "" "{PMID:Yamazaki 2011:21234596}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.71450534C>A" "" "NA" "" "0000193998" "11" "10" "4" "72316333" "72316333" "del" "0" "02077" "SLC4A4_000026" "g.72316333del" "" "{PMID:Demirci 2006:16636648}" "" "IVS10+73delA" "" "Germline" "" "" "0" "" "" "g.71450616del" "" "benign" "" "0000193999" "0" "10" "4" "72363294" "72363294" "subst" "0.00164056" "02077" "SLC4A4_000014" "g.72363294A>T" "" "{PMID:Yamazaki 2011:21234596}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.71497577A>T" "" "NA" "" "0000194000" "11" "10" "4" "72397964" "72397964" "subst" "0" "02077" "SLC4A4_000018" "g.72397964T>C" "" "{PMID:Demirci 2006:16636648}" "" "IVS17+72T>C" "" "Germline" "" "" "0" "" "" "g.71532247T>C" "" "benign" "" "0000194001" "21" "10" "4" "72397964" "72397964" "subst" "0" "02077" "SLC4A4_000018" "g.72397964T>C" "" "{PMID:Demirci 2006:16636648}" "" "IVS17+72T>C" "" "Germline" "" "" "0" "" "" "g.71532247T>C" "" "benign" "" "0000194002" "11" "10" "4" "72413281" "72413281" "subst" "0" "02077" "SLC4A4_000019" "g.72413281T>C" "" "{PMID:Demirci 2006:16636648}" "" "IVS19-84T>C" "" "Germline" "" "" "0" "" "" "g.71547564T>C" "" "benign" "" "0000194003" "21" "10" "4" "72413281" "72413281" "subst" "0" "02077" "SLC4A4_000019" "g.72413281T>C" "" "{PMID:Demirci 2006:16636648}" "" "IVS19-84T>C" "" "Germline" "" "" "0" "" "" "g.71547564T>C" "" "benign" "" "0000194004" "11" "10" "4" "72423624" "72423624" "subst" "0.896001" "02077" "SLC4A4_000020" "g.72423624C>T" "" "{PMID:Demirci 2006:16636648}" "" "IVS22+22C>T" "" "Germline" "" "" "0" "" "" "g.71557907C>T" "" "benign" "" "0000194005" "21" "10" "4" "72423624" "72423624" "subst" "0.896001" "02077" "SLC4A4_000020" "g.72423624C>T" "" "{PMID:Demirci 2006:16636648}" "" "IVS22+22C>T" "" "Germline" "" "" "0" "" "" "g.71557907C>T" "" "benign" "" "0000194006" "11" "10" "4" "72429371" "72429371" "subst" "0" "02077" "SLC4A4_000021" "g.72429371G>A" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-139G>A" "" "Germline" "" "" "0" "" "" "g.71563654G>A" "" "benign" "" "0000194007" "21" "10" "4" "72429371" "72429371" "subst" "0" "02077" "SLC4A4_000021" "g.72429371G>A" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-139G>A" "" "Germline" "" "" "0" "" "" "g.71563654G>A" "" "benign" "" "0000194008" "11" "10" "4" "72429409" "72429409" "subst" "0" "02077" "SLC4A4_000022" "g.72429409A>G" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-101A>G" "" "Germline" "" "" "0" "" "" "g.71563692A>G" "" "benign" "" "0000194009" "21" "10" "4" "72429409" "72429409" "subst" "0" "02077" "SLC4A4_000022" "g.72429409A>G" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-101A>G" "" "Germline" "" "" "0" "" "" "g.71563692A>G" "" "benign" "" "0000194010" "11" "10" "4" "72429433" "72429433" "subst" "0" "02077" "SLC4A4_000023" "g.72429433G>A" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-77G>A" "" "Germline" "" "" "0" "" "" "g.71563716G>A" "" "benign" "" "0000194011" "21" "10" "4" "72429433" "72429433" "subst" "0" "02077" "SLC4A4_000023" "g.72429433G>A" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-77G>A" "" "Germline" "" "" "0" "" "" "g.71563716G>A" "" "benign" "" "0000194012" "11" "10" "4" "72429452" "72429452" "subst" "0" "02077" "SLC4A4_000024" "g.72429452G>A" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-58G>A" "" "Germline" "" "" "0" "" "" "g.71563735G>A" "" "benign" "" "0000194013" "21" "10" "4" "72429452" "72429452" "subst" "0" "02077" "SLC4A4_000024" "g.72429452G>A" "" "{PMID:Demirci 2006:16636648}" "" "IVS23-58G>A" "" "Germline" "" "" "0" "" "" "g.71563735G>A" "" "benign" "" "0000194014" "11" "10" "4" "72432530" "72432530" "subst" "0" "02077" "SLC4A4_000025" "g.72432530A>C" "" "{PMID:Demirci 2006:16636648}" "" "IVS24-191A>C" "" "Germline" "" "" "0" "" "" "g.71566813A>C" "" "benign" "" "0000194015" "21" "10" "4" "72432530" "72432530" "subst" "0" "02077" "SLC4A4_000025" "g.72432530A>C" "" "{PMID:Demirci 2006:16636648}" "" "IVS24-191A>C" "" "Germline" "" "" "0" "" "" "g.71566813A>C" "" "benign" "" "0000194016" "0" "50" "4" "72215736" "72215736" "subst" "4.06296E-6" "02077" "SLC4A4_000012" "g.72215736A>G" "" "" "" "" "" "Germline" "" "rs41265671" "0" "" "" "g.71350019A>G" "" "VUS" "" "0000194017" "0" "50" "4" "72316251" "72316251" "subst" "0" "02077" "SLC4A4_000013" "g.72316251C>A" "" "" "" "" "" "Germline" "" "rs57897542" "0" "" "" "g.71450534C>A" "" "VUS" "" "0000194018" "0" "50" "4" "72338589" "72338589" "subst" "0.00211027" "02077" "SLC4A4_000011" "g.72338589A>G" "" "" "" "" "" "Germline" "" "rs72650362" "0" "" "" "g.71472872A>G" "" "VUS" "" "0000194019" "0" "50" "4" "72363294" "72363294" "subst" "0.00164056" "02077" "SLC4A4_000014" "g.72363294A>T" "" "" "" "" "" "Germline" "" "rs35891845" "0" "" "" "g.71497577A>T" "" "VUS" "" "0000194020" "0" "70" "4" "72338589" "72338589" "subst" "0.00211027" "02077" "SLC4A4_000011" "g.72338589A>G" "" "{PMID:Yamazaki 2011:21234596}" "" "" "reduced transport activity" "In vitro (cloned)" "" "" "0" "" "" "g.71472872A>G" "" "NA" "" "0000194021" "11" "90" "4" "72205050" "72205050" "subst" "0" "02077" "SLC4A4_000003" "g.72205050C>T" "" "{PMID:Igarashi 2001:11274232}, {PMID:Suzuki 2008:17661077}" "" "" "not in 156 control chromosomes; protein not translated" "Germline" "" "" "0" "" "" "g.71339333C>T" "" "pathogenic" "" "0000194022" "21" "90" "4" "72205050" "72205050" "subst" "0" "02077" "SLC4A4_000003" "g.72205050C>T" "" "{PMID:Igarashi 2001:11274232}, {PMID:Suzuki 2008:17661077}" "" "" "not in 156 control chromosomes; protein not translated" "Germline" "" "" "0" "" "" "g.71339333C>T" "" "pathogenic" "" "0000194023" "1" "90" "4" "72313423" "72313423" "subst" "0" "02077" "SLC4A4_000001" "g.72313423A>C" "" "{PMID:Igarashi 1999:10545938}" "" "1043A>C" "partial mistargeting to apical membrane, some cytosolic retention, ~25% reduction in per-molecule function" "Germline" "" "" "0" "" "" "g.71447706A>C" "" "pathogenic" "" "0000194024" "2" "90" "4" "72313423" "72313423" "subst" "0" "02077" "SLC4A4_000001" "g.72313423A>C" "" "{PMID:Igarashi 1999:10545938}" "" "1043A>C" "partial mistargeting to apical membrane, some cytosolic retention, ~25% reduction in per-molecule function" "Germline" "" "" "0" "" "" "g.71447706A>C" "" "pathogenic" "" "0000194025" "10" "90" "4" "72319301" "72319301" "subst" "0" "02077" "SLC4A4_000004" "g.72319301C>T" "" "{PMID:Dinour 2004:15471865}" "" "1429C>T" "partial mistargeting to apical membrane, likely reduction in per-molecule function" "Unknown" "" "" "0" "" "" "g.71453584C>T" "" "pathogenic" "" "0000194026" "21" "90" "4" "72319301" "72319301" "subst" "0" "02077" "SLC4A4_000004" "g.72319301C>T" "" "{PMID:Dinour 2004:15471865}" "" "1429C>T" "partial mistargeting to apical membrane, likely reduction in per-molecule function" "Germline" "" "" "0" "" "" "g.71453584C>T" "" "pathogenic" "" "0000194027" "11" "90" "4" "72332248" "72332248" "subst" "0" "02077" "SLC4A4_000005" "g.72332248A>T" "" "{PMID:Horita 2005:15930088}" "" "" "variant traffics normally, loss of function likely explained by impaired per-molecule activity" "Germline" "" "" "0" "" "" "g.71466531A>T" "" "pathogenic" "" "0000194028" "21" "90" "4" "72332248" "72332248" "subst" "0" "02077" "SLC4A4_000005" "g.72332248A>T" "" "{PMID:Horita 2005:15930088}" "" "" "variant traffics normally, loss of function likely explained by impaired per-molecule activity" "Germline" "" "" "0" "" "" "g.71466531A>T" "" "pathogenic" "" "0000194029" "11" "90" "4" "72332251" "72332251" "subst" "0" "02077" "SLC4A4_000008" "g.72332251G>A" "" "{PMID:Suzuki 2008:17661077}" "" "1605G>A" "variant traffics normally, loss of function likely explained by impaired per-molecule activity" "Germline" "" "" "0" "" "" "g.71466534G>A" "" "pathogenic" "" "0000194030" "21" "90" "4" "72332251" "72332251" "subst" "0" "02077" "SLC4A4_000008" "g.72332251G>A" "" "{PMID:Suzuki 2008:17661077}" "" "1605G>A" "variant traffics normally, loss of function likely explained by impaired per-molecule activity" "Germline" "" "" "0" "" "" "g.71466534G>A" "" "pathogenic" "" "0000194031" "11" "90" "4" "72338445" "72338445" "subst" "0" "02077" "SLC4A4_000002" "g.72338445G>A" "" "{PMID:Igarashi 1999:10545938}" "" "1678G>A" "intracellular retention of mutant, additional per-molecule activity defects not reported" "Germline" "" "" "0" "" "" "g.71472728G>A" "" "pathogenic" "" "0000194032" "21" "90" "4" "72338445" "72338445" "subst" "0" "02077" "SLC4A4_000002" "g.72338445G>A" "" "{PMID:Igarashi 1999:10545938}" "" "1678G>A" "intracellular retention of mutant, additional per-molecule activity defects not reported" "Germline" "" "" "0" "" "" "g.71472728G>A" "" "pathogenic" "" "0000194033" "11" "90" "4" "72338464" "72338464" "subst" "0" "02077" "SLC4A4_000017" "g.72338464G>A" "" "{PMID:Lo 2011:21228764}" "" "" "complete loss of protein" "Germline" "" "" "0" "" "" "g.71472747G>A" "" "pathogenic" "" "0000194034" "21" "90" "4" "72338464" "72338464" "subst" "0" "02077" "SLC4A4_000017" "g.72338464G>A" "" "{PMID:Lo 2011:21228764}" "" "" "complete loss of protein" "Germline" "" "" "0" "" "" "g.71472747G>A" "" "pathogenic" "" "0000194035" "11" "90" "4" "72338481" "72338481" "subst" "0" "02077" "SLC4A4_000009" "g.72338481T>C" "" "{PMID:Demirci 2006:16636648}" "" "" "45 XY/47 XY+M; not in 100 control chromosomes; intracellular retention of variant" "Germline" "" "" "0" "" "" "g.71472764T>C" "" "pathogenic" "" "0000194036" "21" "90" "4" "72338481" "72338481" "subst" "0" "02077" "SLC4A4_000009" "g.72338481T>C" "" "{PMID:Demirci 2006:16636648}" "" "" "46 XY/47 XY+M; not in 100 control chromosomes; intracellular retention of variant" "Germline" "" "" "0" "" "" "g.71472764T>C" "" "pathogenic" "" "0000194037" "1" "90" "4" "72399957" "72399957" "del" "0" "02077" "SLC4A4_000010" "g.72399957del" "" "{PMID:Inatomi 2004:15085340}" "XcmI-" "2311delA" "not in 156 control chromosomes; complete loss of protein" "Germline" "" "" "0" "" "" "g.71534240del" "" "pathogenic" "" "0000194038" "2" "90" "4" "72399957" "72399957" "del" "0" "02077" "SLC4A4_000010" "g.72399957del" "" "{PMID:Inatomi 2004:15085340}" "XcmI-" "2311delA" "not in 156 control chromosomes; complete loss of protein" "Germline" "" "" "0" "" "" "g.71534240del" "" "pathogenic" "" "0000194039" "11" "90" "4" "72412152" "72412152" "subst" "0" "02077" "SLC4A4_000006" "g.72412152C>T" "" "{PMID:Horita 2005:15930088}" "" "" "intracellular accumulation variant, reduced per-molecule function, HCO3? independent conductance" "Germline" "" "" "0" "" "" "g.71546435C>T" "" "pathogenic" "" "0000194040" "21" "90" "4" "72412152" "72412152" "subst" "0" "02077" "SLC4A4_000006" "g.72412152C>T" "" "{PMID:Horita 2005:15930088}" "" "" "intracellular accumulation variant, reduced per-molecule function, HCO3? independent conductance" "Germline" "" "" "0" "" "" "g.71546435C>T" "" "pathogenic" "" "0000194041" "11" "90" "4" "72423438" "72423438" "subst" "0" "02077" "SLC4A4_000007" "g.72423438C>T" "" "{PMID:Horita 2005:15930088}" "" "" "intracellular retention protein, protein has close to normal per-molecule activity" "Germline" "" "" "0" "" "" "g.71557721C>T" "" "pathogenic" "" "0000194042" "21" "90" "4" "72423438" "72423438" "subst" "0" "02077" "SLC4A4_000007" "g.72423438C>T" "" "{PMID:Horita 2005:15930088}" "" "" "intracellular retention protein, protein has close to normal per-molecule activity" "Germline" "" "" "0" "" "" "g.71557721C>T" "" "pathogenic" "" "0000194043" "10" "90" "4" "72425949" "72426013" "del" "0" "02077" "SLC4A4_000015" "g.72425949_72426013del" "" "{PMID:Suzuki 2010:20798035}" "" "del65" "intracellular retention variant, but variant protein functions normally when expressed in oocytes" "Germline" "" "" "0" "" "" "g.71560232_71560296del" "" "pathogenic" "" "0000194044" "20" "90" "4" "72425949" "72426013" "del" "0" "02077" "SLC4A4_000015" "g.72425949_72426013del" "" "{PMID:Suzuki 2010:20798035}" "" "del65" "intracellular retention variant, but variant protein functions normally when expressed in oocytes" "Germline" "" "" "0" "" "" "g.71560232_71560296del" "" "pathogenic" "" "0000194045" "10" "90" "4" "72425949" "72426014" "del" "0" "02077" "SLC4A4_000016" "g.72425949_72426014del" "" "{PMID:Suzuki 2010:20798035}" "" "del66" "intracellular retention variant, but variant protein functions normally when expressed in oocytes" "Germline" "" "" "0" "" "" "g.71560232_71560297del" "" "pathogenic" "" "0000194046" "20" "90" "4" "72425949" "72426014" "del" "0" "02077" "SLC4A4_000016" "g.72425949_72426014del" "" "{PMID:Suzuki 2010:20798035}" "" "del66" "intracellular retention variant, but variant protein functions normally when expressed in oocytes" "Germline" "" "" "0" "" "" "g.71560232_71560297del" "" "pathogenic" "" "0000249453" "0" "30" "4" "72215750" "72215750" "subst" "8.5318E-5" "02325" "SLC4A4_000028" "g.72215750A>G" "" "" "" "SLC4A4(NM_001098484.3):c.511A>G (p.M171V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71350033A>G" "" "likely benign" "" "0000298316" "0" "10" "4" "72425863" "72425863" "subst" "0.893307" "02325" "SLC4A4_000032" "g.72425863C>T" "" "" "" "SLC4A4(NM_001098484.3):c.2991C>T (p.H997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71560146C>T" "" "benign" "" "0000302271" "0" "10" "4" "72433491" "72433491" "del" "0" "02326" "SLC4A4_000034" "g.72433491del" "" "" "" "SLC4A4(NM_001098484.2):c.*37-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71567774del" "" "benign" "" "0000308468" "0" "30" "4" "72120971" "72120971" "subst" "0.000817346" "01943" "SLC4A4_000027" "g.72120971G>A" "" "" "" "SLC4A4(NM_001098484.2):c.108G>A (p.P36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71255254G>A" "" "likely benign" "" "0000308469" "0" "30" "4" "72413417" "72413417" "subst" "0.000912394" "01943" "SLC4A4_000030" "g.72413417T>C" "" "" "" "SLC4A4(NM_001098484.2):c.2674T>C (p.F892L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71547700T>C" "" "likely benign" "" "0000308470" "0" "30" "4" "72423590" "72423590" "subst" "0.000220635" "01943" "SLC4A4_000031" "g.72423590T>C" "" "" "" "SLC4A4(NM_001098484.2):c.2925T>C (p.I975=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71557873T>C" "" "likely benign" "" "0000308471" "0" "30" "4" "72215767" "72215767" "subst" "2.0313E-5" "01943" "SLC4A4_000029" "g.72215767T>A" "" "" "" "SLC4A4(NM_001098484.2):c.528T>A (p.A176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71350050T>A" "" "likely benign" "" "0000346281" "0" "50" "4" "72412077" "72412077" "subst" "0" "02327" "SLC4A4_000035" "g.72412077G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71546360G>A" "" "VUS" "" "0000405583" "0" "10" "4" "72215736" "72215736" "subst" "4.06296E-6" "02077" "SLC4A4_000012" "g.72215736A>G" "" "{PMID:Yamazaki 2011:21234596}" "" "" "" "In vitro (cloned)" "" "" "0" "" "" "g.71350019A>G" "" "NA" "" "0000523082" "0" "30" "4" "72205023" "72205023" "subst" "2.43671E-5" "01804" "SLC4A4_000036" "g.72205023C>T" "" "" "" "SLC4A4(NM_003759.3):c.58C>T (p.(Arg20Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71339306C>T" "" "likely benign" "" "0000523083" "0" "30" "4" "72222752" "72222752" "subst" "2.4376E-5" "01943" "SLC4A4_000037" "g.72222752C>T" "" "" "" "SLC4A4(NM_001098484.2):c.578C>T (p.T193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71357035C>T" "" "likely benign" "" "0000523084" "0" "30" "4" "72352703" "72352703" "subst" "0.000728082" "01943" "SLC4A4_000038" "g.72352703G>A" "" "" "" "SLC4A4(NM_001098484.2):c.1942G>A (p.E648K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71486986G>A" "" "likely benign" "" "0000523086" "0" "10" "4" "72426134" "72426135" "ins" "0" "02326" "SLC4A4_000039" "g.72426134_72426135insCTTT" "" "" "" "SLC4A4(NM_001098484.2):c.3099+162_3099+163insTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71560417_71560418insCTTT" "" "benign" "" "0000651516" "1" "50" "4" "72215759" "72215759" "subst" "0.00104823" "03575" "SLC4A4_000040" "g.72215759C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs149802590}" "Germline" "" "rs149802590" "0" "" "" "g.71350042C>T" "" "VUS" "" "0000682821" "0" "50" "4" "72432747" "72432747" "subst" "4.08744E-5" "00006" "SLC4A4_000041" "g.72432747C>T" "" "{PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}" "" "" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000730483" "3" "50" "4" "72433674" "72433674" "subst" "0" "00000" "SLC4A4_000042" "g.72433674G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.71567957G>A" "" "VUS" "" "0000801699" "0" "30" "4" "72413447" "72413447" "subst" "8.16247E-5" "01943" "SLC4A4_000043" "g.72413447T>A" "" "" "" "SLC4A4(NM_001098484.2):c.2694+10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850654" "0" "30" "4" "72215792" "72215792" "subst" "0.000581079" "01943" "SLC4A4_000044" "g.72215792A>G" "" "" "" "SLC4A4(NM_001098484.2):c.550+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850655" "0" "30" "4" "72338589" "72338589" "subst" "0.00211027" "01943" "SLC4A4_000011" "g.72338589A>G" "" "" "" "SLC4A4(NM_001098484.2):c.1805A>G (p.K602R), SLC4A4(NM_001098484.3):c.1805A>G (p.(Lys602Arg)), SLC4A4(NM_003759.3):c.1673A>G (p.K558R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850656" "0" "50" "4" "72412181" "72412181" "subst" "1.22268E-5" "01943" "SLC4A4_000045" "g.72412181G>A" "" "" "" "SLC4A4(NM_001098484.2):c.2557G>A (p.D853N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886365" "0" "70" "4" "72400077" "72400077" "subst" "0" "02329" "SLC4A4_000046" "g.72400077T>C" "" "" "" "SLC4A4(NM_001098484.3):c.2414T>C (p.I805T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000924153" "0" "10" "4" "72425813" "72425813" "subst" "0.00528857" "02326" "SLC4A4_000047" "g.72425813T>C" "" "" "" "SLC4A4(NM_003759.3):c.2809T>C (p.L937=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948365" "0" "30" "4" "72338589" "72338589" "subst" "0.00211027" "02326" "SLC4A4_000011" "g.72338589A>G" "" "" "" "SLC4A4(NM_001098484.2):c.1805A>G (p.K602R), SLC4A4(NM_001098484.3):c.1805A>G (p.(Lys602Arg)), SLC4A4(NM_003759.3):c.1673A>G (p.K558R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976350" "0" "50" "4" "72222833" "72222833" "subst" "2.43718E-5" "01804" "SLC4A4_000048" "g.72222833A>G" "" "" "" "SLC4A4(NM_001098484.3):c.659A>G (p.(Asn220Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976351" "0" "30" "4" "72338589" "72338589" "subst" "0.00211027" "01804" "SLC4A4_000011" "g.72338589A>G" "" "" "" "SLC4A4(NM_001098484.2):c.1805A>G (p.K602R), SLC4A4(NM_001098484.3):c.1805A>G (p.(Lys602Arg)), SLC4A4(NM_003759.3):c.1673A>G (p.K558R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034654" "0" "30" "4" "72102373" "72102373" "subst" "1.21956E-5" "01804" "SLC4A4_000049" "g.72102373T>C" "" "" "" "SLC4A4(NM_001098484.3):c.73+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034655" "0" "50" "4" "72121012" "72121012" "subst" "0.00155036" "01804" "SLC4A4_000050" "g.72121012G>C" "" "" "" "SLC4A4(NM_001098484.3):c.149G>C (p.(Gly50Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034656" "0" "50" "4" "72205150" "72205150" "subst" "6.90507E-5" "01804" "SLC4A4_000051" "g.72205150C>A" "" "" "" "SLC4A4(NM_001098484.3):c.317C>A (p.(Pro106His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034657" "0" "50" "4" "72263332" "72263332" "subst" "0" "01804" "SLC4A4_000052" "g.72263332A>T" "" "" "" "SLC4A4(NM_001098484.3):c.769A>T (p.(Ser257Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034658" "0" "50" "4" "72363384" "72363384" "subst" "0" "01804" "SLC4A4_000053" "g.72363384A>G" "" "" "" "SLC4A4(NM_001098484.3):c.2141A>G (p.(Lys714Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051738" "0" "50" "4" "72313356" "72313356" "subst" "0" "01804" "SLC4A4_000054" "g.72313356C>G" "" "" "" "SLC4A4(NM_001098484.3):c.966-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051739" "0" "50" "4" "72412109" "72412109" "subst" "0.000357997" "01804" "SLC4A4_000055" "g.72412109C>A" "" "" "" "SLC4A4(NM_001098484.3):c.2485C>A (p.(Leu829Ile))" "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 SLC4A4 ## Count = 82 "{{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}}" "0000193997" "00024277" "10" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Ser400Tyr)" "10" "0000193998" "00024277" "10" "1208" "73" "1208" "73" "c.1208+73del" "r.(=)" "p.(=)" "10i" "0000193999" "00024277" "10" "2051" "0" "2051" "0" "c.2051A>T" "r.(?)" "p.(Ans684Ile)" "16" "0000194000" "00024277" "10" "2280" "72" "2280" "72" "c.2280+72T>C" "r.(?)" "p.(=)" "17i" "0000194001" "00024277" "10" "2280" "72" "2280" "72" "c.2280+72T>C" "r.(?)" "p.(=)" "17i" "0000194002" "00024277" "10" "2622" "-84" "2622" "-84" "c.2622-84T>C" "r.(?)" "p.(=)" "19i" "0000194003" "00024277" "10" "2622" "-84" "2622" "-84" "c.2622-84T>C" "r.(?)" "p.(=)" "19i" "0000194004" "00024277" "10" "2937" "22" "2937" "22" "c.2937+22C>T" "r.(?)" "p.(=)" "22i" "0000194005" "00024277" "10" "2937" "22" "2937" "22" "c.2937+22C>T" "r.(?)" "p.(=)" "22i" "0000194006" "00024277" "10" "3100" "-139" "3100" "-139" "c.3100-139G>A" "r.(?)" "p.(=)" "23i" "0000194007" "00024277" "10" "3100" "-139" "3100" "-139" "c.3100-139G>A" "r.(?)" "p.(=)" "23i" "0000194008" "00024277" "10" "3100" "-101" "3100" "-101" "c.3100-101A>G" "r.(?)" "p.(=)" "23i" "0000194009" "00024277" "10" "3100" "-101" "3100" "-101" "c.3100-101A>G" "r.(?)" "p.(=)" "23i" "0000194010" "00024277" "10" "3100" "-77" "3100" "-77" "c.3100-77G>A" "r.(?)" "p.(=)" "23i" "0000194011" "00024277" "10" "3100" "-77" "3100" "-77" "c.3100-77G>A" "r.(?)" "p.(=)" "23i" "0000194012" "00024277" "10" "3100" "-58" "3100" "-58" "c.3100-58G>A" "r.(?)" "p.(=)" "23i" "0000194013" "00024277" "10" "3100" "-58" "3100" "-58" "c.3100-58G>A" "r.(?)" "p.(=)" "23i" "0000194014" "00024277" "10" "3197" "-191" "3197" "-191" "c.3197-191A>C" "r.(?)" "p.(=)" "24i" "0000194015" "00024277" "10" "3197" "-191" "3197" "-191" "c.3197-191A>C" "r.(?)" "p.(=)" "24i" "0000194016" "00024277" "50" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Glu166Gly)" "5" "0000194017" "00024277" "50" "1199" "0" "1199" "0" "c.1199C>A" "r.(?)" "p.(Ser400Tyr)" "10" "0000194018" "00024277" "50" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Lys602Arg)" "14" "0000194019" "00024277" "50" "2051" "0" "2051" "0" "c.2051A>T" "r.(?)" "p.(Ans684Ile)" "16" "0000194020" "00024277" "70" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Lys602Arg)" "14" "0000194021" "00024277" "90" "254" "-37" "254" "-37" "c.254-37C>T" "r.254-37c>u" "p.Gln86-29*" "3i" "0000194022" "00024277" "90" "254" "-37" "254" "-37" "c.254-37C>T" "r.254-37c>u" "p.Gln86-29*" "3i" "0000194023" "00024277" "90" "1026" "0" "1026" "0" "c.1026A>C" "r.(?)" "p.(Arg342Ser)" "9" "0000194024" "00024277" "90" "1026" "0" "1026" "0" "c.1026A>C" "r.(?)" "p.(Arg342Ser)" "9" "0000194025" "00024277" "90" "1412" "0" "1412" "0" "c.1412C>T" "r.1412c>u" "p.Ser471Leu" "12" "0000194026" "00024277" "90" "1412" "0" "1412" "0" "c.1412C>T" "r.1412c>u" "p.Ser471Leu" "12" "0000194027" "00024277" "90" "1585" "0" "1585" "0" "c.1585A>T" "r.1585a>t" "p.Thr529Ser" "13" "0000194028" "00024277" "90" "1585" "0" "1585" "0" "c.1585A>T" "r.1585a>t" "p.Thr529Ser" "13" "0000194029" "00024277" "90" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Gly530Arg)" "13" "0000194030" "00024277" "90" "1588" "0" "1588" "0" "c.1588G>A" "r.(?)" "p.(Gly530Arg)" "13" "0000194031" "00024277" "90" "1661" "0" "1661" "0" "c.1661G>A" "r.254-37c>u" "p.Arg554His" "14" "0000194032" "00024277" "90" "1661" "0" "1661" "0" "c.1661G>A" "r.254-37c>u" "p.Arg554His" "14" "0000194033" "00024277" "90" "1680" "0" "1680" "0" "c.1680G>A" "r.(?)" "p.(Trp560*)" "14" "0000194034" "00024277" "90" "1680" "0" "1680" "0" "c.1680G>A" "r.(?)" "p.(Trp560*)" "14" "0000194035" "00024277" "90" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "14" "0000194036" "00024277" "90" "1697" "0" "1697" "0" "c.1697T>C" "r.(?)" "p.(Leu566Pro)" "14" "0000194037" "00024277" "90" "2294" "0" "2294" "0" "c.2294del" "r.(?)" "p.(Asn765Thrfs*30)" "18" "0000194038" "00024277" "90" "2294" "0" "2294" "0" "c.2294del" "r.(?)" "p.(Asn765Thrfs*30)" "18" "0000194039" "00024277" "90" "2528" "0" "2528" "0" "c.2528C>T" "r.2528c>u" "p.Ala843Val" "19" "0000194040" "00024277" "90" "2528" "0" "2528" "0" "c.2528C>T" "r.2528c>u" "p.Ala843Val" "19" "0000194041" "00024277" "90" "2773" "0" "2773" "0" "c.2773C>T" "r.2773c>u" "p.Arg925Cys" "22" "0000194042" "00024277" "90" "2773" "0" "2773" "0" "c.2773C>T" "r.2773c>u" "p.Arg925Cys" "22" "0000194043" "00024277" "90" "3077" "0" "3099" "42" "c.3077_3099+42del" "r.3077_3099delins3099+43_3099+48" "p.Ser1026Asnfs*4" "24i" "0000194044" "00024277" "90" "3077" "0" "3099" "42" "c.3077_3099+42del" "r.3077_3099delins3099+43_3099+48" "p.Ser1026Asnfs*4" "24i" "0000194045" "00024277" "90" "3077" "0" "3099" "43" "c.3077_3099+43del" "r.3077_3099delins3099+43_3099+48" "p.Ser1026Asnfs*4" "24i" "0000194046" "00024277" "90" "3077" "0" "3099" "43" "c.3077_3099+43del" "r.3077_3099delins3099+43_3099+48" "p.Ser1026Asnfs*4" "24i" "0000249453" "00024277" "30" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Met171Val)" "" "0000298316" "00024277" "10" "2991" "0" "2991" "0" "c.2991=" "r.(=)" "p.(His997=)" "" "0000302271" "00024277" "10" "3277" "-14" "3277" "-14" "c.*37-14del" "r.(=)" "p.(=)" "" "0000308468" "00024277" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Pro36=)" "" "0000308469" "00024277" "30" "2674" "0" "2674" "0" "c.2674T>C" "r.(?)" "p.(Phe892Leu)" "" "0000308470" "00024277" "30" "2925" "0" "2925" "0" "c.2925T>C" "r.(?)" "p.(Ile975=)" "" "0000308471" "00024277" "30" "528" "0" "528" "0" "c.528T>A" "r.(?)" "p.(Ala176=)" "" "0000346281" "00024277" "50" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Gly818Glu)" "" "0000405583" "00024277" "10" "497" "0" "497" "0" "c.497A>G" "r.(?)" "p.(Glu166Gly)" "5" "0000523082" "00024277" "30" "254" "-64" "254" "-64" "c.254-64C>T" "r.(=)" "p.(=)" "" "0000523083" "00024277" "30" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Thr193Ile)" "" "0000523084" "00024277" "30" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Glu648Lys)" "" "0000523086" "00024277" "10" "3099" "163" "3099" "164" "c.3099+163_3099+164insCTTT" "r.(=)" "p.(=)" "" "0000651516" "00024277" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Arg174Trp)" "" "0000682821" "00024277" "50" "3223" "0" "3223" "0" "c.3223C>T" "r.(?)" "p.(Arg1075Cys)" "" "0000730483" "00024277" "50" "3446" "0" "3446" "0" "c.*206G>A" "r.spl" "p.?" "" "0000801699" "00024277" "30" "2694" "10" "2694" "10" "c.2694+10T>A" "r.(=)" "p.(=)" "" "0000850654" "00024277" "30" "550" "3" "550" "3" "c.550+3A>G" "r.spl?" "p.?" "" "0000850655" "00024277" "30" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Lys602Arg)" "" "0000850656" "00024277" "50" "2557" "0" "2557" "0" "c.2557G>A" "r.(?)" "p.(Asp853Asn)" "" "0000886365" "00024277" "70" "2414" "0" "2414" "0" "c.2414T>C" "r.(?)" "p.(Ile805Thr)" "" "0000924153" "00024277" "10" "2941" "0" "2941" "0" "c.2941T>C" "r.(?)" "p.(Leu981=)" "" "0000948365" "00024277" "30" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Lys602Arg)" "" "0000976350" "00024277" "50" "659" "0" "659" "0" "c.659A>G" "r.(?)" "p.(Asn220Ser)" "" "0000976351" "00024277" "30" "1805" "0" "1805" "0" "c.1805A>G" "r.(?)" "p.(Lys602Arg)" "" "0001034654" "00024277" "30" "73" "7" "73" "7" "c.73+7T>C" "r.(=)" "p.(=)" "" "0001034655" "00024277" "50" "149" "0" "149" "0" "c.149G>C" "r.(?)" "p.(Gly50Ala)" "" "0001034656" "00024277" "50" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Pro106His)" "" "0001034657" "00024277" "50" "769" "0" "769" "0" "c.769A>T" "r.(?)" "p.(Ser257Cys)" "" "0001034658" "00024277" "50" "2141" "0" "2141" "0" "c.2141A>G" "r.(?)" "p.(Lys714Arg)" "" "0001051738" "00024277" "50" "966" "-7" "966" "-7" "c.966-7C>G" "r.(=)" "p.(=)" "" "0001051739" "00024277" "50" "2485" "0" "2485" "0" "c.2485C>A" "r.(?)" "p.(Leu829Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000118028" "0000194021" "0000118028" "0000194022" "0000118029" "0000194023" "0000118029" "0000194024" "0000118030" "0000193998" "0000118030" "0000194000" "0000118030" "0000194001" "0000118030" "0000194002" "0000118030" "0000194003" "0000118030" "0000194004" "0000118030" "0000194005" "0000118030" "0000194006" "0000118030" "0000194007" "0000118030" "0000194008" "0000118030" "0000194009" "0000118030" "0000194010" "0000118030" "0000194011" "0000118030" "0000194012" "0000118030" "0000194013" "0000118030" "0000194014" "0000118030" "0000194015" "0000118030" "0000194035" "0000118030" "0000194036" "0000118031" "0000194025" "0000118031" "0000194026" "0000118032" "0000194027" "0000118032" "0000194028" "0000118033" "0000194029" "0000118033" "0000194030" "0000118034" "0000194031" "0000118034" "0000194032" "0000118035" "0000194033" "0000118035" "0000194034" "0000118036" "0000194037" "0000118036" "0000194038" "0000118037" "0000194039" "0000118037" "0000194040" "0000118038" "0000194041" "0000118038" "0000194042" "0000118039" "0000194043" "0000118039" "0000194044" "0000118040" "0000194045" "0000118040" "0000194046" "0000294827" "0000651516" "0000304423" "0000682821" "0000333069" "0000730483"