### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALT) # 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}}" "GALT" "galactose-1-phosphate uridylyltransferase" "9" "p13" "unknown" "NG_009029.2" "UD_132119106670" "" "https://www.LOVD.nl/GALT" "" "1" "4135" "2592" "606999" "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/GALT_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2019-01-09 15:23:03" "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}}" "00025360" "GALT" "transcript variant 1" "001" "NM_000155.3" "" "NP_000146.2" "" "" "" "-116" "1289" "1140" "34646586" "34650595" "00006" "2019-01-09 15:23:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01800" "GALAC1" "galactosemia (galactose-1-phosphate uridylyltransferase deficiency)" "AR" "230400" "" "autosomal recessive" "" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GALT" "00139" "GALT" "01800" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000073" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00080877" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00211194" "" "" "" "1" "" "03147" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "M" "" "Philippines" "" "0" "" "" "" "Patient 1" "00211196" "" "" "" "1" "" "03147" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "M" "" "Philippines" "" "0" "" "" "" "Patient 3" "00213100" "" "" "" "1" "" "00006" "{PMID:Estrada 2013:24045215}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Philippines" "00y01m" "0" "" "" "" "24045215-Pat4" "00213101" "" "" "" "1" "" "00006" "{PMID:Estrada 2013:24045215}" "" "M" "" "Philippines" "" "0" "" "gal-free diet" "" "24045215-Pat2" "00218060" "" "" "" "1" "" "03147" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "M" "" "Philippines" "" "0" "" "" "" "Patient 2" "00218062" "" "" "" "1" "" "03147" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "F" "" "Philippines" "" "0" "" "" "" "Patient 4" "00294849" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294850" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294851" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294852" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294853" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294854" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295229" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00387750" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "Iran" "" "0" "" "" "Persia" "M280" "00410547" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "analysis 329 adult patients suffering from undiagnosed rare disease" "F" "" "Belgium" "" "0" "" "" "" "Pat9" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" "00428032" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A220" "00444973" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "simplex case" "" "" "" "" "0" "" "" "" "13DG2254" "00445043" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "?" "00445072" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "?" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 21 "{{individualid}}" "{{diseaseid}}" "00080877" "01800" "00211194" "01800" "00211196" "01800" "00213100" "01800" "00213101" "01800" "00218060" "01800" "00218062" "01800" "00294849" "00198" "00294850" "00198" "00294851" "00198" "00294852" "00198" "00294853" "00198" "00294854" "00198" "00295229" "00198" "00387750" "00139" "00410547" "00198" "00414704" "04214" "00428032" "00198" "00444973" "00296" "00445043" "00296" "00445072" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00296, 01800, 04214 ## Count = 14 "{{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}}" "0000060446" "01800" "00080877" "01758" "Familial, autosomal recessive" "" "Galactosemia (OMIM:230400)" "" "" "" "" "" "" "" "" "" "" "" "0000159676" "01800" "00211194" "03147" "Familial, autosomal recessive" "" "Jaundice (HP:0000952)\r\nSepsis (HP:0100806)\r\nHepatomegaly (HP:0002240)" "00y00m03d" "" "" "" "" "" "" "" "Classic Galactosemia" "" "" "0000159678" "01800" "00211196" "03147" "Familial, autosomal recessive" "" "Jaundice (HP:0000952), diarrhea (HP:0002014), seizures (HP:0001250), irritability (HP:0000737), poor suck (HP:0002033), sepsis (HP:0100806), hepatomegaly (HP:0002240)" "00y00m04d" "" "" "" "" "" "" "" "Classic Galactosemia" "" "" "0000161581" "01800" "00213100" "00006" "Familial, autosomal recessive" "00y01m" "5d-jaundice, vomiting, diarrhea; 1m-died due to sepsis" "00y00m05d" "" "" "" "" "" "" "" "" "" "" "0000161582" "01800" "00213101" "00006" "Unknown" "" "5d-vomiting, diarrhea, jaundice; 1m-hepatomegaly, failure to thrive, sepsis; 2y6m-development and liver function were normal" "00y00m05d" "" "" "" "" "" "" "" "" "" "" "0000166513" "01800" "00218060" "03147" "Familial, autosomal recessive" "" "Vomiting (HP:0002013), diarrhea (HP:0002014), jaundice (HP:0000952), hepatomegaly (HP:0002240), failure to thrive (HP:0001508), sepsis (HP:0100806)" "00y00m05d" "" "" "" "" "" "" "" "" "Classic Galactosemia" "" "0000166514" "01800" "00218062" "03147" "Familial, autosomal recessive" "" "Vomiting (HP:0002013), diarrhea (HP:0002014), jaundice (HP:0000952), sepsis (HP:0100806)" "00y00m05d" "" "" "" "" "" "" "" "Classic Galactosemia" "Classic Galactosemia" "" "0000281318" "00139" "00387750" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly, leukoencephalopathy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000302650" "00198" "00410547" "00006" "Familial, autosomal recessive" "" "see paper; ..., onset neonatal, intellectual disability, tremor, dyspraxia, hypogonadotropic hypogonadism, no family history" "" "" "" "" "" "" "" "" "GALAC1" "developmental delay" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" "0000318978" "00198" "00428032" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "Galactosemia" "" "" "0000334223" "00296" "00444973" "00006" "Familial, autosomal recessive" "" "pediatric cataract; not syndromic, clinical signs of galactosemia" "" "" "" "" "" "" "" "" "GALAC1" "cataract" "" "0000334295" "00296" "00445043" "00006" "Familial, autosomal recessive" "" "bilateral cataract, galactosemia" "" "" "" "" "" "" "" "" "GALAC1" "cataract" "" "0000334324" "00296" "00445072" "00006" "Familial, autosomal recessive" "" "bilateral cataract, galactosemia" "" "" "" "" "" "" "" "" "GALAC1" "cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000073" "00000073" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000080989" "00080877" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000212270" "00211194" "1" "03147" "03147" "2019-01-04 10:45:31" "" "" "SEQ" "DNA" "" "" "0000212272" "00211196" "1" "03147" "03147" "2019-01-04 13:34:52" "" "" "SEQ" "DNA" "" "" "0000214175" "00213100" "1" "00006" "00006" "2019-01-09 20:40:04" "" "" "SEQ" "DNA" "" "" "0000214176" "00213101" "1" "00006" "00006" "2019-01-09 20:44:25" "" "" "SEQ" "DNA" "" "" "0000219131" "00218060" "1" "03147" "03147" "2019-01-21 02:29:20" "" "" "SEQ" "DNA" "" "" "0000219132" "00218062" "1" "03147" "03147" "2019-01-21 02:53:42" "" "" "SEQ" "DNA" "" "" "0000296017" "00294849" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296018" "00294850" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296019" "00294851" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296020" "00294852" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296021" "00294853" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296022" "00294854" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296397" "00295229" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000388981" "00387750" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000411812" "00410547" "1" "00006" "00006" "2022-05-29 10:39:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415985" "00414704" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000429445" "00428032" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000446542" "00444973" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446613" "00445043" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446642" "00445072" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000000062" "AGXT" "0000000062" "ATP7B" "0000000062" "CLN3" "0000000062" "CYP21A2" "0000000062" "ETFB" "0000000062" "GALC" "0000000062" "GALT" "0000000062" "GLB1" "0000000062" "HSPG2" "0000000062" "IGHMBP2" "0000000062" "MEFV" "0000000062" "NEB" "0000000062" "NPHS1" "0000000062" "SERPINA1" "0000000062" "SLC26A2" "0000000062" "TGM1" "0000000073" "ATP7B" "0000000073" "ETFB" "0000000073" "GALT" "0000000073" "GLB1" "0000000073" "IGHMBP2" "0000000073" "MTHFR" "0000000073" "NHLRC1" "0000000073" "SMPD1" "0000080989" "GALT" "0000212270" "GALT" "0000212272" "GALT" "0000214175" "GALT" "0000214176" "GALT" "0000219131" "GALT" "0000219132" "GALT" "0000388981" "GALT" "0000415985" "GALT" ## 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 = 79 "{{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}}" "0000001285" "0" "50" "9" "34648167" "34648167" "subst" "0.00142539" "00002" "GALT_000002" "g.34648167A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.34648170A>G" "" "VUS" "" "0000001286" "0" "50" "9" "34649029" "34649029" "subst" "0.000138061" "00002" "GALT_000003" "g.34649029G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.34649032G>T" "" "VUS" "" "0000001287" "0" "50" "9" "34649442" "34649442" "subst" "0.0924035" "00002" "GALT_000004" "g.34649442A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.34649445A>G" "" "VUS" "" "0000130075" "3" "90" "9" "34647855" "34647855" "subst" "0.000247696" "01758" "GALT_000005" "g.34647855C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.34647858C>T" "" "pathogenic" "ACMG" "0000248261" "0" "50" "9" "34649442" "34649442" "subst" "0.0924035" "02325" "GALT_000004" "g.34649442A>G" "" "" "" "GALT(NM_000155.4):c.940A>G (p.N314D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34649445A>G" "" "VUS" "" "0000251707" "0" "50" "9" "34649442" "34649442" "subst" "0.0924035" "02326" "GALT_000004" "g.34649442A>G" "" "" "" "GALT(NM_000155.4):c.940A>G (p.N314D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34649445A>G" "" "VUS" "" "0000256426" "0" "50" "9" "34648167" "34648167" "subst" "0.00142539" "01943" "GALT_000002" "g.34648167A>G" "" "" "" "GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34648170A>G" "" "VUS" "" "0000284577" "0" "10" "9" "34648088" "34648088" "subst" "0.0545255" "02326" "GALT_000008" "g.34648088G>A" "" "" "" "GALT(NM_000155.4):c.508-24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34648091G>A" "" "benign" "" "0000284578" "0" "10" "9" "34648418" "34648418" "subst" "0.0378065" "02326" "GALT_000009" "g.34648418C>T" "" "" "" "GALT(NM_000155.4):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34648421C>T" "" "benign" "" "0000288201" "0" "30" "9" "34650356" "34650356" "subst" "4.06273E-6" "01943" "GALT_000013" "g.34650356C>T" "" "" "" "GALT(NM_000155.3):c.1060-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34650359C>T" "" "likely benign" "" "0000288202" "0" "70" "9" "34647855" "34647855" "subst" "4.06058E-6" "01943" "GALT_000007" "g.34647855C>G" "" "" "" "GALT(NM_000155.3):c.404C>G (p.S135W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34647858C>G" "" "likely pathogenic" "" "0000288203" "0" "30" "9" "34648755" "34648755" "subst" "6.52827E-5" "01943" "GALT_000010" "g.34648755C>T" "" "" "" "GALT(NM_000155.3):c.688-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34648758C>T" "" "likely benign" "" "0000288204" "0" "90" "9" "34649029" "34649029" "subst" "0.000138061" "01943" "GALT_000003" "g.34649029G>T" "" "" "" "GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34649032G>T" "" "pathogenic" "" "0000332604" "0" "50" "9" "34646714" "34646714" "subst" "8.14472E-6" "01804" "GALT_000006" "g.34646714G>A" "" "" "" "GALT(NM_000155.3):c.13G>A (p.(Gly5Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34646717G>A" "" "VUS" "" "0000344624" "0" "90" "9" "34648167" "34648167" "subst" "0.00142539" "02327" "GALT_000002" "g.34648167A>G" "" "" "" "GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34648170A>G" "" "pathogenic" "" "0000443917" "10" "90" "9" "34648137" "34648137" "subst" "0" "03147" "GALT_000016" "g.34648137T>G" "" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "" "" "Germline" "" "" "0" "" "" "g.34648140T>G" "" "pathogenic (recessive)" "" "0000443918" "21" "90" "9" "34647953" "34647953" "subst" "0" "03147" "GALT_000015" "g.34647953G>T" "" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "" "" "Germline" "" "" "0" "" "" "g.34647956G>T" "" "pathogenic (recessive)" "" "0000443920" "3" "90" "9" "34647672" "34647672" "subst" "0" "03147" "GALT_000014" "g.34647672T>C" "" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "" "" "Germline" "" "" "0" "" "" "g.34647675T>C" "" "pathogenic (recessive)" "" "0000446110" "3" "90" "9" "34647953" "34647953" "subst" "0" "00006" "GALT_000015" "g.34647953G>T" "" "{PMID:Estrada 2013:24045215}" "" "" "no detectable GALT-activity" "Germline" "" "" "0" "" "" "g.34647956G>T" "" "pathogenic (recessive)" "" "0000446111" "1" "90" "9" "34649536" "34649536" "subst" "8.1217E-6" "00006" "GALT_000017" "g.34649536C>A" "" "{PMID:Estrada 2013:24045215}" "" "" "unknown variant 2nd allele; no detectable GALT activity" "Germline" "" "" "0" "" "" "g.34649539C>A" "" "pathogenic (recessive)" "" "0000453973" "10" "70" "9" "34649536" "34649536" "subst" "8.1217E-6" "03147" "GALT_000017" "g.34649536C>A" "" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "" "" "Germline" "" "" "0" "" "" "g.34649539C>A" "{CV:25321}" "likely pathogenic" "" "0000453974" "3" "90" "9" "34647953" "34647953" "subst" "0" "03147" "GALT_000015" "g.34647953G>T" "" "{PMID:Estrada, Canson and Silao 2013:24045215}" "" "" "" "Germline" "" "" "0" "" "" "g.34647956G>T" "{CV:25189}" "pathogenic" "" "0000538031" "0" "30" "9" "34647081" "34647081" "subst" "0" "01943" "GALT_000018" "g.34647081C>T" "" "" "" "GALT(NM_000155.3):c.83-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34647084C>T" "" "likely benign" "" "0000538032" "0" "50" "9" "34647199" "34647199" "subst" "0" "01943" "CCL27_000001" "g.34647199C>T" "" "" "" "GALT(NM_000155.3):c.196C>T (p.P66S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34647202C>T" "" "VUS" "" "0000538033" "0" "70" "9" "34647855" "34647855" "subst" "4.06058E-6" "02327" "GALT_000007" "g.34647855C>G" "" "" "" "GALT(NM_000155.3):c.404C>G (p.S135W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34647858C>G" "" "likely pathogenic" "" "0000538034" "0" "10" "9" "34648114" "34648114" "subst" "0.00302107" "01943" "CCL27_000002" "g.34648114C>A" "" "" "" "GALT(NM_000155.3):c.510C>A (p.I170=), GALT(NM_000155.4):c.510C>A (p.I170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34648117C>A" "" "benign" "" "0000538035" "0" "10" "9" "34648114" "34648114" "subst" "0.00302107" "02326" "CCL27_000002" "g.34648114C>A" "" "" "" "GALT(NM_000155.3):c.510C>A (p.I170=), GALT(NM_000155.4):c.510C>A (p.I170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34648117C>A" "" "benign" "" "0000538037" "0" "90" "9" "34648167" "34648167" "subst" "0.00142539" "02325" "GALT_000002" "g.34648167A>G" "" "" "" "GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34648170A>G" "" "pathogenic" "" "0000538039" "0" "30" "9" "34648992" "34648992" "subst" "0" "01804" "CCL27_000004" "g.34648992C>T" "" "" "" "GALT(NM_000155.3):c.821-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34648995C>T" "" "likely benign" "" "0000538040" "0" "10" "9" "34649053" "34649053" "subst" "0.000962374" "01943" "CCL27_000005" "g.34649053C>T" "" "" "" "GALT(NM_000155.3):c.879C>T (p.S293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34649056C>T" "" "benign" "" "0000538041" "0" "50" "9" "34649484" "34649484" "subst" "4.06095E-6" "02327" "CCL27_000006" "g.34649484C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34649487C>T" "" "VUS" "" "0000538042" "0" "10" "9" "34650287" "34650295" "dup" "0" "02326" "CCL27_000007" "g.34650287_34650295dup" "" "" "" "GALT(NM_000155.4):c.1060-78_1060-70dupAAAAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34650290_34650298dup" "" "benign" "" "0000538043" "0" "10" "9" "34650288" "34650295" "dup" "0" "02326" "CCL27_000008" "g.34650288_34650295dup" "" "" "" "GALT(NM_000155.4):c.1060-77_1060-70dupAAAAAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34650291_34650298dup" "" "benign" "" "0000538044" "0" "30" "9" "34655228" "34655228" "subst" "0" "01804" "CCL27_000009" "g.34655228G>T" "" "" "" "IL11RA(NM_001142784.2):c.14G>T (p.(Cys5Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34655231G>T" "" "likely benign" "" "0000612091" "0" "10" "9" "34648088" "34648088" "subst" "0.0545255" "02327" "GALT_000008" "g.34648088G>A" "" "" "" "GALT(NM_000155.4):c.508-24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34648091G>A" "" "benign" "" "0000612092" "0" "10" "9" "34648418" "34648418" "subst" "0.0378065" "02327" "GALT_000009" "g.34648418C>T" "" "" "" "GALT(NM_000155.4):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34648421C>T" "" "benign" "" "0000612094" "0" "50" "9" "34649442" "34649442" "subst" "0.0924035" "02327" "GALT_000004" "g.34649442A>G" "" "" "" "GALT(NM_000155.4):c.940A>G (p.N314D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34649445A>G" "" "VUS" "" "0000622259" "0" "70" "9" "34649544" "34649544" "subst" "0" "01943" "CCL27_000015" "g.34649544G>A" "" "" "" "GALT(NM_000155.3):c.1042G>A (p.D348N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.34649547G>A" "" "likely pathogenic" "" "0000652706" "1" "90" "9" "34647202" "34647202" "subst" "0" "03575" "GALT_000019" "g.34647202C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111033658}" "Germline" "" "rs111033658" "0" "" "" "g.34647205C>T" "" "pathogenic" "" "0000652707" "1" "90" "9" "34648167" "34648167" "subst" "0.00142539" "03575" "GALT_000002" "g.34648167A>G" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs75391579}" "Germline" "" "rs75391579" "0" "" "" "g.34648170A>G" "" "pathogenic" "" "0000652708" "1" "70" "9" "34648368" "34648368" "subst" "2.43643E-5" "03575" "GALT_000020" "g.34648368G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs111033735}" "Germline" "" "rs111033735" "0" "" "" "g.34648371G>A" "" "likely pathogenic" "" "0000652709" "1" "50" "9" "34648843" "34648843" "subst" "3.66306E-5" "03575" "GALT_000022" "g.34648843C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs368166217}" "Germline" "" "rs368166217" "0" "" "" "g.34648846C>T" "" "VUS" "" "0000652710" "1" "70" "9" "34649449" "34649449" "subst" "0" "03575" "GALT_000023" "g.34649449G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111033790}" "Germline" "" "rs111033790" "0" "" "" "g.34649452G>A" "" "likely pathogenic" "" "0000652711" "1" "70" "9" "34649485" "34649485" "subst" "4.06098E-6" "03575" "GALT_000024" "g.34649485G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111033802}" "Germline" "" "rs111033802" "0" "" "" "g.34649488G>A" "" "likely pathogenic" "" "0000653086" "1" "70" "9" "34648392" "34648392" "subst" "1.21821E-5" "03575" "GALT_000021" "g.34648392A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs111033744}" "Germline" "" "rs111033744" "0" "" "" "g.34648395A>G" "" "likely pathogenic" "" "0000690525" "0" "90" "9" "34647855" "34647855" "subst" "0.000247696" "01943" "GALT_000005" "g.34647855C>T" "" "" "" "GALT(NM_000155.3):c.404C>T (p.S135L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690526" "0" "30" "9" "34648333" "34648333" "subst" "8.12137E-6" "01943" "CCL27_000016" "g.34648333A>G" "" "" "" "GALT(NM_000155.3):c.567A>G (p.V189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690527" "0" "70" "9" "34650438" "34650438" "subst" "8.93844E-5" "01943" "CCL27_000017" "g.34650438A>G" "" "" "" "GALT(NM_000155.3):c.1132A>G (p.I378V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722496" "0" "90" "9" "34648167" "34648167" "subst" "0.00142539" "02329" "GALT_000002" "g.34648167A>G" "" "" "" "GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722497" "0" "90" "9" "34648350" "34648350" "subst" "7.30923E-5" "02329" "CCL27_000003" "g.34648350T>C" "" "" "" "GALT(NM_000155.3):c.584T>C (p.(Leu195Pro)), GALT(NM_000155.4):c.584T>C (p.L195P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722498" "0" "50" "9" "34648988" "34648988" "subst" "4.06065E-5" "01943" "CCL27_000020" "g.34648988A>G" "" "" "" "GALT(NM_000155.3):c.821-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722499" "0" "90" "9" "34649029" "34649029" "subst" "0.000138061" "02329" "GALT_000003" "g.34649029G>T" "" "" "" "GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722500" "0" "70" "9" "34650446" "34650446" "subst" "0" "01943" "CCL27_000021" "g.34650446A>C" "" "" "" "GALT(NM_000155.3):c.1140A>C (p.*380Cext*49), GALT(NM_000155.4):c.1140A>C (p.*380Cext*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000804108" "0" "50" "9" "34649500" "34649500" "subst" "2.43649E-5" "01943" "CCL27_000025" "g.34649500G>A" "" "" "" "GALT(NM_000155.3):c.998G>A (p.R333Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817774" "3" "70" "9" "34647855" "34647855" "subst" "0.000247696" "00006" "GALT_000005" "g.34647855C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.34647858C>T" "" "likely pathogenic (recessive)" "ACMG" "0000869049" "3" "70" "9" "34648167" "34648167" "subst" "0.00142539" "00006" "GALT_000002" "g.34648167A>G" "" "{PMID:Schuermans 2022:35606766}" "" "" "ACMG PVS1, PS3, PP5, PM1, PM2, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.34648170A>G" "" "likely pathogenic (recessive)" "" "0000873894" "3" "70" "9" "34647528" "34647528" "subst" "0" "00000" "GALT_000025" "g.34647528G>C" "" "{PMID:Bell 2011:21228398}" "" "GALT exon 3, c.292G>C, D98H, chr9:34637528G>C (hg18) CM910169" "causative, homozygous" "Germline" "?" "" "0" "" "" "g.34647531G>C" "" "likely pathogenic" "" "0000908918" "3" "70" "9" "34648972" "34648972" "subst" "0" "00006" "GALT_000026" "g.34648972T>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice donor, intron retention" "Germline/De novo (untested)" "" "" "0" "" "" "g.34648975T>G" "" "likely pathogenic (recessive)" "" "0000929596" "0" "90" "9" "34649520" "34649520" "subst" "0" "02327" "CCL27_000030" "g.34649520G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949276" "0" "90" "9" "34650446" "34650446" "subst" "0" "02325" "CCL27_000021" "g.34650446A>C" "" "" "" "GALT(NM_000155.3):c.1140A>C (p.*380Cext*49), GALT(NM_000155.4):c.1140A>C (p.*380Cext*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000954886" "3" "90" "9" "34647203" "34647203" "subst" "4.06174E-6" "00006" "GALT_000027" "g.34647203G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.34647206G>A" "" "pathogenic (recessive)" "" "0000954966" "3" "70" "9" "34648167" "34648167" "subst" "0.00142539" "00006" "GALT_000002" "g.34648167A>G" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS3, PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.34648170A>G" "VCV000003614.17" "likely pathogenic (recessive)" "" "0000954995" "3" "70" "9" "34648167" "34648167" "subst" "0.00142539" "00006" "GALT_000002" "g.34648167A>G" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PS3, PS4mod, PM2, PP3" "Germline" "" "" "0" "" "" "g.34648170A>G" "VCV000003614.17" "likely pathogenic (recessive)" "" "0000978679" "0" "90" "9" "34647830" "34647830" "subst" "0" "02325" "CCL27_000031" "g.34647830A>G" "" "" "" "GALT(NM_000155.4):c.379A>G (p.K127E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978680" "0" "90" "9" "34648157" "34648157" "subst" "0" "01804" "CCL27_000032" "g.34648157C>T" "" "" "" "GALT(NM_000155.4):c.553C>T (p.(Pro185Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978681" "0" "90" "9" "34648167" "34648167" "subst" "0.00142539" "01804" "GALT_000002" "g.34648167A>G" "" "" "" "GALT(NM_000155.3):c.563A>G (p.Q188R, p.(Gln188Arg)), GALT(NM_000155.4):c.563A>G (p.Q188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978682" "0" "50" "9" "34648377" "34648377" "subst" "6.9031E-5" "01804" "CCL27_000033" "g.34648377G>A" "" "" "" "GALT(NM_000155.4):c.611G>A (p.(Arg204Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978683" "0" "50" "9" "34648859" "34648859" "subst" "4.07252E-6" "02327" "CCL27_000034" "g.34648859G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978684" "0" "90" "9" "34649029" "34649029" "subst" "0.000138061" "01804" "GALT_000003" "g.34649029G>T" "" "" "" "GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997846" "0" "90" "9" "34647864" "34647864" "subst" "1.21817E-5" "02327" "CCL27_000035" "g.34647864C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997847" "0" "90" "9" "34648350" "34648350" "subst" "7.30923E-5" "01804" "CCL27_000003" "g.34648350T>C" "" "" "" "GALT(NM_000155.3):c.584T>C (p.(Leu195Pro)), GALT(NM_000155.4):c.584T>C (p.L195P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025664" "0" "90" "9" "34646583" "34646586" "del" "0" "02327" "GALT_000028" "g.34646583_34646586del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025665" "0" "10" "9" "34647802" "34647802" "subst" "0.0545454" "02327" "CCL27_000036" "g.34647802G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025666" "0" "10" "9" "34648020" "34648020" "subst" "0" "02327" "CCL27_000037" "g.34648020G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025667" "0" "70" "9" "34649449" "34649449" "subst" "0" "02327" "GALT_000023" "g.34649449G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037496" "0" "50" "9" "34648398" "34648398" "subst" "0.000138068" "01804" "CCL27_000038" "g.34648398G>C" "" "" "" "GALT(NM_000155.4):c.632G>C (p.(Ser211Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037497" "0" "90" "9" "34648453" "34648453" "subst" "0" "02327" "CCL27_000039" "g.34648453G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037498" "0" "90" "9" "34649029" "34649029" "subst" "0.000138061" "02327" "GALT_000003" "g.34649029G>T" "" "" "" "GALT(NM_000155.3):c.855G>T (p.K285N), GALT(NM_000155.4):c.855G>T (p.(Lys285Asn), p.K285N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037499" "0" "50" "9" "34649459" "34649459" "subst" "2.84273E-5" "02325" "CCL27_000040" "g.34649459C>T" "" "" "" "GALT(NM_000155.4):c.957C>T (p.H319=)" "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 GALT ## Count = 79 "{{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}}" "0000001285" "00025360" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000001286" "00025360" "50" "855" "0" "855" "0" "c.855G>T" "r.(?)" "p.(Lys285Asn)" "" "0000001287" "00025360" "50" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Asn314Asp)" "" "0000130075" "00025360" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Leu)" "" "0000248261" "00025360" "50" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Asn314Asp)" "" "0000251707" "00025360" "50" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Asn314Asp)" "" "0000256426" "00025360" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000284577" "00025360" "10" "508" "-24" "508" "-24" "c.508-24G>A" "r.(=)" "p.(=)" "" "0000284578" "00025360" "10" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000288201" "00025360" "30" "1060" "-10" "1060" "-10" "c.1060-10C>T" "r.(=)" "p.(=)" "" "0000288202" "00025360" "70" "404" "0" "404" "0" "c.404C>G" "r.(?)" "p.(Ser135Trp)" "" "0000288203" "00025360" "30" "688" "-4" "688" "-4" "c.688-4C>T" "r.spl?" "p.?" "" "0000288204" "00025360" "90" "855" "0" "855" "0" "c.855G>T" "r.(?)" "p.(Lys285Asn)" "" "0000332604" "00025360" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Gly5Arg)" "" "0000344624" "00025360" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000443917" "00025360" "90" "533" "0" "533" "0" "c.533T>G" "r.(?)" "p.Met178Arg" "" "0000443918" "00025360" "90" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.Val168Leu" "" "0000443920" "00025360" "90" "347" "0" "347" "0" "c.347T>C" "r.(?)" "p.Leu116Pro" "4" "0000446110" "00025360" "90" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Val168Leu)" "" "0000446111" "00025360" "90" "1034" "0" "1034" "0" "c.1034C>A" "r.(?)" "p.(Ala345Asp)" "" "0000453973" "00025360" "70" "1034" "0" "1034" "0" "c.1034C>A" "r.(?)" "p.(Ala345Asp)" "10" "0000453974" "00025360" "90" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Val168Leu)" "5" "0000538031" "00025360" "30" "83" "-5" "83" "-5" "c.83-5C>T" "r.spl?" "p.?" "" "0000538032" "00025360" "50" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Pro66Ser)" "" "0000538033" "00025360" "70" "404" "0" "404" "0" "c.404C>G" "r.(?)" "p.(Ser135Trp)" "" "0000538034" "00025360" "10" "510" "0" "510" "0" "c.510C>A" "r.(?)" "p.(Ile170=)" "" "0000538035" "00025360" "10" "510" "0" "510" "0" "c.510C>A" "r.(?)" "p.(Ile170=)" "" "0000538037" "00025360" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000538039" "00025360" "30" "821" "-3" "821" "-3" "c.821-3C>T" "r.spl?" "p.?" "" "0000538040" "00025360" "10" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Ser293=)" "" "0000538041" "00025360" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Cys)" "" "0000538042" "00025360" "10" "1060" "-79" "1060" "-71" "c.1060-79_1060-71dup" "r.(=)" "p.(=)" "" "0000538043" "00025360" "10" "1060" "-78" "1060" "-71" "c.1060-78_1060-71dup" "r.(=)" "p.(=)" "" "0000538044" "00025360" "30" "5922" "0" "5922" "0" "c.*4782G>T" "r.(=)" "p.(=)" "" "0000612091" "00025360" "10" "508" "-24" "508" "-24" "c.508-24G>A" "r.(=)" "p.(=)" "" "0000612092" "00025360" "10" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000612094" "00025360" "50" "940" "0" "940" "0" "c.940A>G" "r.(?)" "p.(Asn314Asp)" "" "0000622259" "00025360" "70" "1042" "0" "1042" "0" "c.1042G>A" "r.(?)" "p.(Asp348Asn)" "" "0000652706" "00025360" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Cys)" "" "0000652707" "00025360" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000652708" "00025360" "70" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "" "0000652709" "00025360" "50" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Arg258Cys)" "" "0000652710" "00025360" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "" "0000652711" "00025360" "70" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328His)" "" "0000653086" "00025360" "70" "626" "0" "626" "0" "c.626A>G" "r.(?)" "p.(Tyr209Cys)" "" "0000690525" "00025360" "90" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Leu)" "" "0000690526" "00025360" "30" "567" "0" "567" "0" "c.567A>G" "r.(?)" "p.(Val189=)" "" "0000690527" "00025360" "70" "1132" "0" "1132" "0" "c.1132A>G" "r.(?)" "p.(Ile378Val)" "" "0000722496" "00025360" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000722497" "00025360" "90" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Leu195Pro)" "" "0000722498" "00025360" "50" "821" "-7" "821" "-7" "c.821-7A>G" "r.(=)" "p.(=)" "" "0000722499" "00025360" "90" "855" "0" "855" "0" "c.855G>T" "r.(?)" "p.(Lys285Asn)" "" "0000722500" "00025360" "70" "1140" "0" "1140" "0" "c.1140A>C" "r.(?)" "p.(*380Cysext*49)" "" "0000804108" "00025360" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "" "0000817774" "00025360" "70" "404" "0" "404" "0" "c.404C>T" "r.(?)" "p.(Ser135Leu)" "" "0000869049" "00025360" "70" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000873894" "00025360" "70" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Asp98His)" "" "0000908918" "00025360" "70" "821" "-23" "821" "-23" "c.821-23T>G" "r.[821_904del,855-904del,820_821ins[820+1_821-24;g;821-22_821-1],[820_821ins[820+1_821-24;g;821-22_821-1];855_904del]]" "p.[Asp274_His301del,Ala303Serfs*49,Arp274Glyfs*6,Arp274Glyfs*6]" "" "0000929596" "00025360" "90" "1018" "0" "1018" "0" "c.1018G>T" "r.(?)" "p.(Glu340*)" "" "0000949276" "00025360" "90" "1140" "0" "1140" "0" "c.1140A>C" "r.(?)" "p.(*380Cysext*49)" "" "0000954886" "00025360" "90" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Arg67His)" "" "0000954966" "00025360" "70" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000954995" "00025360" "70" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000978679" "00025360" "90" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Lys127Glu)" "" "0000978680" "00025360" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Pro185Ser)" "" "0000978681" "00025360" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000978682" "00025360" "50" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204Gln)" "" "0000978683" "00025360" "50" "788" "0" "788" "0" "c.788G>A" "r.(?)" "p.(Arg263Gln)" "" "0000978684" "00025360" "90" "855" "0" "855" "0" "c.855G>T" "r.(?)" "p.(Lys285Asn)" "" "0000997846" "00025360" "90" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Thr138Met)" "" "0000997847" "00025360" "90" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Leu195Pro)" "" "0001025664" "00025360" "90" "-119" "0" "-116" "0" "c.-119_-116del" "r.(?)" "p.(=)" "" "0001025665" "00025360" "10" "378" "-27" "378" "-27" "c.378-27G>C" "r.(=)" "p.(=)" "" "0001025666" "00025360" "10" "507" "62" "507" "62" "c.507+62G>A" "r.(=)" "p.(=)" "" "0001025667" "00025360" "70" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Trp316*)" "" "0001037496" "00025360" "50" "632" "0" "632" "0" "c.632G>C" "r.(?)" "p.(Ser211Thr)" "" "0001037497" "00025360" "90" "687" "0" "687" "0" "c.687G>T" "r.(?)" "p.(Lys229Asn)" "" "0001037498" "00025360" "90" "855" "0" "855" "0" "c.855G>T" "r.(?)" "p.(Lys285Asn)" "" "0001037499" "00025360" "50" "957" "0" "957" "0" "c.957C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000000062" "0000001286" "0000000073" "0000001285" "0000000073" "0000001287" "0000080989" "0000130075" "0000212270" "0000443917" "0000212270" "0000443918" "0000212272" "0000443920" "0000214175" "0000446110" "0000214176" "0000446111" "0000219131" "0000453973" "0000219132" "0000453974" "0000296017" "0000652706" "0000296018" "0000652707" "0000296019" "0000652708" "0000296020" "0000652709" "0000296021" "0000652710" "0000296022" "0000652711" "0000296397" "0000653086" "0000388981" "0000817774" "0000411812" "0000869049" "0000415985" "0000873894" "0000429445" "0000908918" "0000446542" "0000954886" "0000446613" "0000954966" "0000446642" "0000954995"