### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GALC) # 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}}" "GALC" "galactosylceramidase" "14" "q31" "unknown" "NG_011853.2" "UD_132085270747" "" "https://www.LOVD.nl/GALC" "" "1" "4115" "2581" "606890" "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/GALC_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2017-09-27 11:49:01" "00000" "2025-07-08 13:22:38" ## 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}}" "00025233" "GALC" "transcript variant 1" "004" "NM_000153.3" "" "NP_000144.2" "" "" "" "-107" "3776" "2058" "88459615" "88399358" "00006" "2017-09-27 11:47:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01882" "Krabbe" "Krabbe disease (galactosylceramide beta-galactosidase deficiency)" "AR" "245200" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02528" "CORTRD1" "cortisone reductase deficiency, type 1 (CORTRD-1)" "AR" "604931" "" "" "" "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" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GALC" "01882" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00000006" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000015" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000053" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "JPT/HAN‐HapMap sample" "F" "" "" "" "0" "" "" "" "" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000088" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000091" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00092240" "" "" "" "1" "" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "" "00150149" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5388" "00180174" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat26" "00291128" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291129" "" "" "" "43" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291131" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291132" "" "" "" "160" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291133" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291134" "" "" "" "95" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304447" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304448" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304449" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00358882" "" "" "" "1" "" "03566" "" "" "" "" "" "" "" "" "" "" "GALC" "00374286" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-6075" "00374320" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3714" "00374321" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4990" "00374553" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4491" "00374740" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4325" "00374741" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2248" "00414056" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR4" "00414057" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR5" "00415246" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "F" "" "" "" "0" "" "" "" "1" "00418511" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam8" "00427055" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00438401" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat120" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00000015" "00138" "00000015" "05378" "00000022" "05378" "00000030" "00000" "00000054" "01617" "00092240" "01882" "00092240" "02528" "00150149" "00198" "00180174" "00198" "00291128" "00198" "00291129" "00198" "00291131" "00198" "00291132" "00198" "00291133" "00198" "00291134" "00198" "00304447" "00198" "00304448" "00198" "00304449" "00198" "00358882" "00198" "00374286" "00198" "00374320" "00198" "00374321" "00198" "00374553" "00198" "00374740" "00198" "00374741" "00198" "00414056" "00000" "00414057" "00000" "00415246" "04214" "00418511" "00198" "00427055" "00000" "00438401" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 01617, 01882, 02528, 04214, 04270, 05378 ## Count = 16 "{{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}}" "0000070572" "02528" "00092240" "00006" "Familial, autosomal recessive" "" "IDD secondary to myopathy, premature adrenarche, skin pigmentation abnormalities; transient glycogen storage on muscle biopsy" "" "" "" "" "" "" "" "" "" "" "" "0000070573" "01882" "00092240" "00006" "Familial, autosomal recessive" "" "congenital hypotonia, respiratory/feeding insufficiency" "" "" "" "" "" "" "" "" "" "" "" "0000122551" "00198" "00150149" "00006" "Familial, autosomal recessive" "" "intellectual diability, cortical atrophy, microcephaly, sensorineural polyneuropathy" "" "" "" "" "" "" "" "" "" "" "" "0000142628" "00198" "00180174" "00006" "Familial, autosomal recessive" "" "Epilepsy (HP:0001250), status epilepticus (HP:0002133), generalized myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), developmental regression (HP:0002376), small for gestational age (HP:0001518), hemiparesis (HP:0004374), nystagmus (HP:0000639), strabismus (HP:0000486), progressive visual loss (HP:0000529), amblyopia (HP:0000646). Electroneuromyography: axonal abnormality (HP:0003482). Head MRI: leukodystrophy (HP:0002415), death in childhood (HP:0003819)" "" "" "" "" "" "" "" "" "Krabbe disease" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000254141" "00198" "00358882" "03566" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269496" "00198" "00374286" "00006" "Familial, autosomal recessive" "" "Features suggestive of leukodystrophy" "" "" "" "" "" "" "" "" "" "Krabbe disease" "" "0000269530" "00198" "00374320" "00006" "Familial, autosomal recessive" "" "Floppiness, global developmental delay, brisk deep tendon reflex, head lag, plagiocephaly, bilateral subdural hydroma and hypoxic ischemic encephalopathy." "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000269531" "00198" "00374321" "00006" "Familial, autosomal recessive" "" "Milestone regression" "" "" "" "" "" "" "" "" "" "Krabbe disease" "" "0000269763" "00198" "00374553" "00006" "Familial, autosomal recessive" "" "microcephaly, myoclonic seizures, spastic quadraplegia and tonic posturing" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000269950" "00198" "00374740" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000269951" "00198" "00374741" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukodystrophy" "" "0000305957" "00000" "00414056" "03208" "Familial, autosomal recessive" "" "lethargy, pyramidal features, MRI abnormalities, distal muscle weakness, reduced balance" "" "" "" "" "" "" "" "" "" "" "" "0000305958" "00000" "00414057" "03208" "Familial, autosomal recessive" "" "spasticity and pyramidal features" "" "" "" "" "" "" "" "" "" "" "" "0000307044" "04214" "00415246" "00000" "Familial, autosomal recessive" "" "OMIM: 245200; spastic diplegia, developmental delay, subglottic stenosis and laryngomalacia, and hyperpigmentations on extremities" "" "" "" "" "" "" "" "" "Krabbe disease" "" "" "0000328305" "04270" "00438401" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0001298 encephalopathy; HP:0001342 cerebral hemorrhage; HP:0002138 subarachnoid hemorrhage; HP:0002170 intracranial hemorrhage; HP:0002181 cerebral edema; HP:0002637 cerebral ischemia; HP:0002922 increased csf protein; HP:0100309 subdural hemorrhage; HP:0100659 abnormality of the cerebral vasculature; HP:0020110 bone fracture; HP:0001063 acrocyanosis; HP:0001643 patent ductus arteriosus; HP:0001655 patent foramen ovale; HP:0001942 metabolic acidosis; HP:0002090 pneumonia; HP:0012768 neonatal asphyxia; HP:0001410 decreased liver function" "4d" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000006" "00000006" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000015" "00000015" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000049" "00000049" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000053" "00000053" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000054" "00000054" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000088" "00000088" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000089" "00000089" "1" "00004" "" "2012-05-11 13:19:15" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000091" "00000091" "1" "00004" "" "2012-05-11 13:19:17" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000092381" "00092240" "1" "00006" "00006" "2016-12-16 19:09:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000151004" "00150149" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000181077" "00180174" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000292296" "00291128" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292297" "00291129" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292299" "00291131" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292300" "00291132" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292301" "00291133" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292302" "00291134" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305576" "00304447" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305577" "00304448" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305578" "00304449" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000360114" "00358882" "1" "03566" "03566" "2021-03-17 07:17:09" "00006" "2023-12-01 12:39:32" "SEQ" "DNA" "" "" "0000375480" "00374286" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375514" "00374320" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375515" "00374321" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375747" "00374553" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375934" "00374740" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375935" "00374741" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000415335" "00414056" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000415336" "00414057" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000416528" "00415246" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000419806" "00418511" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000428375" "00427055" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000439883" "00438401" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 181 "{{screeningid}}" "{{geneid}}" "0000000006" "ACADM" "0000000006" "APTX" "0000000006" "ATP7B" "0000000006" "GALC" "0000000006" "MTHFR" "0000000006" "SERPINA1" "0000000006" "SGSH" "0000000006" "SLC26A2" "0000000015" "ALG6" "0000000015" "ARSB" "0000000015" "ATP7B" "0000000015" "BMPR2" "0000000015" "DPYD" "0000000015" "ETFB" "0000000015" "GALC" "0000000015" "GLB1" "0000000015" "NHLRC1" "0000000015" "NPHS1" "0000000015" "SERPINA1" "0000000015" "TGM1" "0000000022" "ALPL" "0000000022" "ATP7B" "0000000022" "CBS" "0000000022" "DPYD" "0000000022" "ETFB" "0000000022" "GALC" "0000000022" "GLB1" "0000000022" "NPHS1" "0000000022" "PAH" "0000000022" "SERPINA1" "0000000022" "SLC26A2" "0000000028" "ALG1" "0000000028" "AMPD1" "0000000028" "ATP7B" "0000000028" "BTD" "0000000028" "CBS" "0000000028" "CLN3" "0000000028" "CYP21A2" "0000000028" "FGG" "0000000028" "GALC" "0000000028" "GLB1" "0000000028" "JAK3" "0000000028" "NPHS1" "0000000028" "RAG2" "0000000028" "RPGRIP1L" "0000000028" "SERPINA1" "0000000028" "SLC26A2" "0000000030" "ADA" "0000000030" "ATP7B" "0000000030" "CPT2" "0000000030" "GALC" "0000000030" "HEXB" "0000000030" "IGHMBP2" "0000000030" "NHLRC1" "0000000030" "SBDS" "0000000030" "SERPINA1" "0000000030" "SLC26A2" "0000000030" "SMPD1" "0000000030" "TTPA" "0000000030" "WNT10A" "0000000049" "ATP7B" "0000000049" "CYP21A2" "0000000049" "DPYD" "0000000049" "ETFB" "0000000049" "GALC" "0000000049" "GLB1" "0000000049" "IGHMBP2" "0000000049" "LAMA2" "0000000049" "MPL" "0000000049" "MYO5A" "0000000049" "NPHP4" "0000000049" "SERPINA1" "0000000049" "SGSH" "0000000049" "SLC26A2" "0000000051" "AGXT" "0000000051" "AHI1" "0000000051" "ATP7B" "0000000051" "DPYD" "0000000051" "ETFB" "0000000051" "FAH" "0000000051" "GALC" "0000000051" "GLB1" "0000000051" "IGHMBP2" "0000000051" "MYO5A" "0000000051" "NHLRC1" "0000000051" "NPHS1" "0000000051" "PKHD1" "0000000053" "AHI1" "0000000053" "ATP7B" "0000000053" "DMD" "0000000053" "DPYD" "0000000053" "ETFB" "0000000053" "GALC" "0000000053" "GLB1" "0000000053" "MTHFR" "0000000053" "MYO5A" "0000000053" "NHLRC1" "0000000053" "SERPINA1" "0000000054" "ATM" "0000000054" "ATP7B" "0000000054" "DPYD" "0000000054" "ETFB" "0000000054" "GALC" "0000000054" "GLB1" "0000000054" "GNPTAB" "0000000054" "LAMA2" "0000000054" "LAMA3" "0000000054" "NHLRC1" "0000000054" "NPHS1" "0000000054" "SERPINA1" "0000000054" "SLC26A2" "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" "0000000067" "ASPA" "0000000067" "ATP7B" "0000000067" "CDH23" "0000000067" "CPT1A" "0000000067" "CYP21A2" "0000000067" "ETFB" "0000000067" "GALC" "0000000067" "GLB1" "0000000067" "MEFV" "0000000067" "MTHFR" "0000000067" "MVK" "0000000067" "NHLRC1" "0000000067" "NPHS1" "0000000067" "SERPINA1" "0000000067" "SLC26A2" "0000000067" "SMPD1" "0000000067" "WNT10A" "0000000088" "ATP7B" "0000000088" "CFTR" "0000000088" "ETFB" "0000000088" "FKRP" "0000000088" "GALC" "0000000088" "GLB1" "0000000088" "HEXB" "0000000088" "IGHMBP2" "0000000088" "NHLRC1" "0000000088" "NPHS1" "0000000088" "POLG" "0000000088" "SBDS" "0000000088" "SERPINA1" "0000000089" "ATP7B" "0000000089" "BTD" "0000000089" "CFTR" "0000000089" "ETFB" "0000000089" "GALC" "0000000089" "GLB1" "0000000089" "IGHMBP2" "0000000089" "SMPD1" "0000000091" "GALC" "0000000091" "IGHMBP2" "0000000091" "MYO5A" "0000000091" "NHLRC1" "0000000091" "SMPD1" "0000092381" "GALC" "0000092381" "H6PD" "0000151004" "GALC" "0000181077" "GALC" "0000375480" "CTC1" "0000375514" "GAA" "0000375515" "GALC" "0000375747" "GALC" "0000375934" "GALC" "0000375935" "GALC" "0000416528" "GALC" ## 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 = 215 "{{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}}" "0000000425" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000426" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000427" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000428" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000429" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000430" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000431" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000432" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000433" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000434" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000435" "0" "50" "14" "88450770" "88450770" "subst" "0.0420161" "00002" "GALC_000001" "g.88450770G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87984426G>A" "" "VUS" "" "0000000436" "0" "50" "14" "88414158" "88414158" "subst" "0.0010712" "00002" "GALC_000002" "g.88414158G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87947814G>C" "" "VUS" "" "0000000437" "0" "50" "14" "88431969" "88431969" "subst" "0.00784613" "00002" "GALC_000003" "g.88431969T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87965625T>C" "" "VUS" "" "0000000438" "0" "50" "14" "88431969" "88431969" "subst" "0.00784613" "00002" "GALC_000003" "g.88431969T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.87965625T>C" "" "VUS" "" "0000150684" "3" "90" "14" "88452941" "88452941" "subst" "0.00252024" "00006" "GALC_000004" "g.88452941T>C" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Germline" "" "" "0" "" "" "g.87986597T>C" "" "pathogenic" "" "0000244160" "3" "90" "14" "88401147" "88401147" "subst" "0" "00006" "GALC_000005" "g.88401147A>C" "" "{PMID:Karaca 2015:26539891}" "" "NM_001201401: c.T1918G; p.W640G" "" "Germline" "" "" "0" "" "" "g.87934803A>C" "" "pathogenic" "" "0000244161" "3" "90" "14" "88417106" "88417106" "del" "0" "00006" "GALC_000006" "g.88417106del" "" "{PMID:Karaca 2015:26539891}" "" "NM_000153: c.1162-4T>-" "" "Germline" "" "" "0" "" "" "g.87950762del" "" "pathogenic" "" "0000247208" "0" "10" "14" "88407888" "88407888" "subst" "0.434404" "02330" "GALC_000016" "g.88407888A>G" "" "" "" "GALC(NM_000153.3):c.1685T>C (p.I562T), GALC(NM_000153.4):c.1685T>C (p.I562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941544A>G" "" "benign" "" "0000247218" "0" "10" "14" "88417106" "88417106" "del" "0" "02330" "GALC_000006" "g.88417106del" "" "" "" "GALC(NM_000153.3):c.1162-4delT, GALC(NM_000153.3):c.1162-4delT (p.?), GALC(NM_000153.4):c.1162-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87950762del" "" "benign" "" "0000247219" "0" "10" "14" "88454469" "88454469" "subst" "0.126611" "02330" "GALC_000041" "g.88454469A>T" "" "" "" "GALC(NM_000153.3):c.328+19T>A, GALC(NM_000153.4):c.328+19T>A, GALC(NM_001201402.2):c.250+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87988125A>T" "" "benign" "" "0000247253" "0" "10" "14" "88452878" "88452878" "subst" "0.00634789" "02330" "GALC_000038" "g.88452878A>G" "" "" "" "GALC(NM_000153.4):c.397T>C (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986534A>G" "" "benign" "" "0000247271" "0" "10" "14" "88454782" "88454782" "subst" "0" "02330" "GALC_000043" "g.88454782A>C" "" "" "" "GALC(NM_000153.4):c.264+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87988438A>C" "" "benign" "" "0000247275" "0" "30" "14" "88459826" "88459826" "subst" "0.00138836" "02330" "GALC_000054" "g.88459826A>G" "" "" "" "GALC(NM_001201402.1):c.18T>C (p.H6=), GALC(NM_001201402.2):c.18T>C (p.H6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993482A>G" "" "likely benign" "" "0000247918" "0" "10" "14" "88407888" "88407888" "subst" "0.434404" "02325" "GALC_000016" "g.88407888A>G" "" "" "" "GALC(NM_000153.3):c.1685T>C (p.I562T), GALC(NM_000153.4):c.1685T>C (p.I562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941544A>G" "" "benign" "" "0000249194" "0" "10" "14" "88417106" "88417106" "del" "0" "02325" "GALC_000027" "g.88417106del" "" "" "" "GALC(NM_000153.3):c.1162-4delT, GALC(NM_000153.3):c.1162-4delT (p.?), GALC(NM_000153.4):c.1162-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87950762del" "" "benign" "" "0000253179" "0" "10" "14" "88407888" "88407888" "subst" "0.434404" "01943" "GALC_000016" "g.88407888A>G" "" "" "" "GALC(NM_000153.3):c.1685T>C (p.I562T), GALC(NM_000153.4):c.1685T>C (p.I562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941544A>G" "" "benign" "" "0000253421" "0" "10" "14" "88417106" "88417106" "del" "0" "01943" "GALC_000006" "g.88417106del" "" "" "" "GALC(NM_000153.3):c.1162-4delT, GALC(NM_000153.3):c.1162-4delT (p.?), GALC(NM_000153.4):c.1162-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87950762del" "" "benign" "" "0000253422" "0" "10" "14" "88454469" "88454469" "subst" "0.126611" "01943" "GALC_000041" "g.88454469A>T" "" "" "" "GALC(NM_000153.3):c.328+19T>A, GALC(NM_000153.4):c.328+19T>A, GALC(NM_001201402.2):c.250+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87988125A>T" "" "benign" "" "0000253881" "0" "10" "14" "88448525" "88448525" "subst" "0.12533" "01943" "GALC_000032" "g.88448525A>G" "" "" "" "GALC(NM_000153.3):c.621+24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87982181A>G" "" "benign" "" "0000254347" "0" "30" "14" "88411935" "88411935" "subst" "0.000456089" "01943" "GALC_000018" "g.88411935A>G" "" "" "" "GALC(NM_000153.3):c.1632T>C (p.D544=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87945591A>G" "" "likely benign" "" "0000276928" "0" "10" "14" "88416225" "88416225" "subst" "0.00864698" "02330" "GALC_000024" "g.88416225G>A" "" "" "" "GALC(NM_000153.4):c.1302C>T (p.S434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87949881G>A" "" "benign" "" "0000276929" "0" "10" "14" "88414211" "88414211" "subst" "0.368767" "02330" "GALC_000023" "g.88414211G>A" "" "" "" "GALC(NM_000153.3):c.1350C>T (p.S450=), GALC(NM_000153.4):c.1350C>T (p.S450=), GALC(NM_001201402.2):c.1272C>T (p.S424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87947867G>A" "" "benign" "" "0000276930" "0" "50" "14" "88459355" "88459355" "subst" "0" "02330" "GALC_000047" "g.88459355C>T" "" "" "" "GALC(NM_000153.4):c.154G>A (p.G52S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993011C>T" "" "VUS" "" "0000276931" "0" "10" "14" "88407917" "88407917" "subst" "0.549541" "02330" "GALC_000017" "g.88407917G>A" "" "" "" "GALC(NM_000153.3):c.1671-15C>T, GALC(NM_000153.4):c.1671-15C>T, GALC(NM_001201402.2):c.1593-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941573G>A" "" "benign" "" "0000276932" "0" "10" "14" "88407875" "88407875" "subst" "0.984928" "02330" "GALC_000015" "g.88407875T>A" "" "" "" "GALC(NM_000153.4):c.1698A>T (p.V566=), GALC(NM_001201402.2):c.1620A>T (p.V540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941531T>A" "" "benign" "" "0000276935" "0" "10" "14" "88407734" "88407734" "subst" "0.984295" "02330" "GALC_000012" "g.88407734G>C" "" "" "" "GALC(NM_000153.4):c.1834+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941390G>C" "" "benign" "" "0000276936" "0" "10" "14" "88401213" "88401213" "subst" "0.984838" "02330" "GALC_000008" "g.88401213T>C" "" "" "" "GALC(NM_000153.4):c.1921A>G (p.T641A), GALC(NM_001201402.2):c.1843A>G (p.T615A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87934869T>C" "" "benign" "" "0000276938" "0" "30" "14" "88452957" "88452959" "del" "0" "02330" "GALC_000040" "g.88452957_88452959del" "" "" "" "GALC(NM_000153.3):c.329-10_329-8delCTC, GALC(NM_000153.4):c.329-10_329-8delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986613_87986615del" "" "likely benign" "" "0000276939" "0" "10" "14" "88452945" "88452945" "subst" "0.0331963" "02330" "GALC_000039" "g.88452945G>A" "" "" "" "GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986601G>A" "" "benign" "" "0000276940" "0" "10" "14" "88459467" "88459467" "subst" "0.117335" "02330" "GALC_000051" "g.88459467C>G" "" "" "" "GALC(NM_000153.3):c.42G>C (p.A14=), GALC(NM_000153.4):c.42G>C (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993123C>G" "" "benign" "" "0000276941" "0" "10" "14" "88459795" "88459795" "subst" "0.0627349" "02330" "GALC_000053" "g.88459795C>T" "" "" "" "GALC(NM_001201402.2):c.49G>A (p.A17T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993451C>T" "" "benign" "" "0000276942" "0" "10" "14" "88450770" "88450770" "subst" "0.0420161" "02330" "GALC_000001" "g.88450770G>A" "" "" "" "GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87984426G>A" "" "benign" "" "0000276943" "0" "10" "14" "88459448" "88459448" "subst" "0.115055" "02330" "GALC_000050" "g.88459448C>G" "" "" "" "GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993104C>G" "" "benign" "" "0000276944" "0" "10" "14" "88442712" "88442712" "subst" "0.126653" "02330" "GALC_000031" "g.88442712C>T" "" "" "" "GALC(NM_000153.3):c.742G>A (p.D248N), GALC(NM_000153.4):c.742G>A (p.D248N), GALC(NM_001201402.2):c.664G>A (p.D222N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87976368C>T" "" "benign" "" "0000276945" "0" "10" "14" "88459434" "88459434" "subst" "0.110574" "02330" "GALC_000049" "g.88459434G>T" "" "" "" "GALC(NM_000153.3):c.75C>A (p.G25=), GALC(NM_000153.4):c.75C>A (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993090G>T" "" "benign" "" "0000276946" "0" "50" "14" "88431966" "88431966" "subst" "4.07475E-6" "02330" "GALC_000030" "g.88431966C>T" "" "" "" "GALC(NM_000153.4):c.916G>A (p.A306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965622C>T" "" "VUS" "" "0000276947" "0" "10" "14" "88431898" "88431898" "subst" "0.388583" "02330" "GALC_000028" "g.88431898C>T" "" "" "" "GALC(NM_000153.3):c.984G>A (p.Q328=), GALC(NM_000153.4):c.984G>A (p.Q328=), GALC(NM_001201402.2):c.906G>A (p.Q302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965554C>T" "" "benign" "" "0000280970" "0" "10" "14" "88400353" "88400353" "subst" "0.420283" "02325" "GALC_000007" "g.88400353C>T" "" "" "" "GALC(NM_000153.4):c.*723G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87934009C>T" "" "benign" "" "0000280971" "0" "10" "14" "88414211" "88414211" "subst" "0.368767" "02325" "GALC_000023" "g.88414211G>A" "" "" "" "GALC(NM_000153.3):c.1350C>T (p.S450=), GALC(NM_000153.4):c.1350C>T (p.S450=), GALC(NM_001201402.2):c.1272C>T (p.S424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87947867G>A" "" "benign" "" "0000280972" "0" "10" "14" "88407917" "88407917" "subst" "0.549541" "02325" "GALC_000017" "g.88407917G>A" "" "" "" "GALC(NM_000153.3):c.1671-15C>T, GALC(NM_000153.4):c.1671-15C>T, GALC(NM_001201402.2):c.1593-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941573G>A" "" "benign" "" "0000280973" "0" "10" "14" "88407875" "88407875" "subst" "0.984928" "02325" "GALC_000015" "g.88407875T>A" "" "" "" "GALC(NM_000153.4):c.1698A>T (p.V566=), GALC(NM_001201402.2):c.1620A>T (p.V540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941531T>A" "" "benign" "" "0000280974" "0" "90" "14" "88407873" "88407873" "subst" "5.29955E-5" "02325" "GALC_000014" "g.88407873T>G" "" "" "" "GALC(NM_000153.3):c.1700A>C (p.Y567S), GALC(NM_000153.4):c.1700A>C (p.Y567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941529T>G" "" "pathogenic" "" "0000280975" "0" "10" "14" "88407734" "88407734" "subst" "0.984295" "02325" "GALC_000012" "g.88407734G>C" "" "" "" "GALC(NM_000153.4):c.1834+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941390G>C" "" "benign" "" "0000280976" "0" "10" "14" "88407729" "88407729" "dup" "0" "02325" "GALC_000011" "g.88407729dup" "" "" "" "GALC(NM_000153.4):c.1834+22dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941385dup" "" "benign" "" "0000280977" "0" "10" "14" "88401213" "88401213" "subst" "0.984838" "02325" "GALC_000008" "g.88401213T>C" "" "" "" "GALC(NM_000153.4):c.1921A>G (p.T641A), GALC(NM_001201402.2):c.1843A>G (p.T615A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87934869T>C" "" "benign" "" "0000280978" "0" "10" "14" "88452945" "88452945" "subst" "0.0331963" "02325" "GALC_000039" "g.88452945G>A" "" "" "" "GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986601G>A" "" "benign" "" "0000280979" "0" "10" "14" "88459448" "88459448" "subst" "0.115055" "02325" "GALC_000050" "g.88459448C>G" "" "" "" "GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993104C>G" "" "benign" "" "0000280980" "0" "10" "14" "88431969" "88431969" "subst" "0.00784613" "02325" "GALC_000003" "g.88431969T>C" "" "" "" "GALC(NM_000153.4):c.913A>G (p.(Ile305Val), p.I305V), GALC(NM_001201402.2):c.835A>G (p.I279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965625T>C" "" "benign" "" "0000280981" "0" "10" "14" "88431898" "88431898" "subst" "0.388583" "02325" "GALC_000028" "g.88431898C>T" "" "" "" "GALC(NM_000153.3):c.984G>A (p.Q328=), GALC(NM_000153.4):c.984G>A (p.Q328=), GALC(NM_001201402.2):c.906G>A (p.Q302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965554C>T" "" "benign" "" "0000288143" "0" "90" "14" "88417056" "88417056" "del" "0" "01943" "GALC_000026" "g.88417056del" "" "" "" "GALC(NM_000153.3):c.1199delC (p.P400Lfs*57)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87950712del" "" "pathogenic" "" "0000288144" "0" "90" "14" "88417046" "88417046" "subst" "8.15129E-6" "01943" "GALC_000025" "g.88417046T>A" "" "" "" "GALC(NM_000153.3):c.1208A>T (p.N403I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87950702T>A" "" "pathogenic" "" "0000288145" "0" "10" "14" "88414211" "88414211" "subst" "0.368767" "01943" "GALC_000023" "g.88414211G>A" "" "" "" "GALC(NM_000153.3):c.1350C>T (p.S450=), GALC(NM_000153.4):c.1350C>T (p.S450=), GALC(NM_001201402.2):c.1272C>T (p.S424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87947867G>A" "" "benign" "" "0000288146" "0" "90" "14" "88411981" "88411981" "subst" "9.77143E-5" "01943" "GALC_000022" "g.88411981G>A" "" "" "" "GALC(NM_000153.3):c.1586C>T (p.T529M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87945637G>A" "" "pathogenic" "" "0000288147" "0" "90" "14" "88411976" "88411976" "subst" "4.47934E-5" "01943" "GALC_000021" "g.88411976G>A" "" "" "" "GALC(NM_000153.3):c.1591C>T (p.R531C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87945632G>A" "" "pathogenic" "" "0000288148" "0" "30" "14" "88411938" "88411938" "subst" "0.000154751" "01943" "GALC_000020" "g.88411938G>A" "" "" "" "GALC(NM_000153.3):c.1629C>T (p.A543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87945594G>A" "" "likely benign" "" "0000288149" "0" "90" "14" "88411937" "88411937" "subst" "0" "01943" "GALC_000019" "g.88411937C>T" "" "" "" "GALC(NM_000153.3):c.1630G>A (p.D544N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87945593C>T" "" "pathogenic" "" "0000288150" "0" "10" "14" "88407917" "88407917" "subst" "0.549541" "01943" "GALC_000017" "g.88407917G>A" "" "" "" "GALC(NM_000153.3):c.1671-15C>T, GALC(NM_000153.4):c.1671-15C>T, GALC(NM_001201402.2):c.1593-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941573G>A" "" "benign" "" "0000288151" "0" "90" "14" "88407873" "88407873" "subst" "5.29955E-5" "01943" "GALC_000014" "g.88407873T>G" "" "" "" "GALC(NM_000153.3):c.1700A>C (p.Y567S), GALC(NM_000153.4):c.1700A>C (p.Y567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87941529T>G" "" "pathogenic" "" "0000288153" "0" "10" "14" "88459304" "88459304" "subst" "0.000391019" "01943" "GALC_000046" "g.88459304T>C" "" "" "" "GALC(NM_000153.3):c.195+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87992960T>C" "" "benign" "" "0000288154" "0" "90" "14" "88454798" "88454798" "subst" "4.06729E-6" "01943" "GALC_000044" "g.88454798C>T" "" "" "" "GALC(NM_000153.3):c.264+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87988454C>T" "" "pathogenic" "" "0000288155" "0" "30" "14" "88454482" "88454482" "subst" "0.000105671" "01943" "GALC_000042" "g.88454482T>C" "" "" "" "GALC(NM_000153.3):c.328+6A>G, GALC(NM_000153.4):c.328+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87988138T>C" "" "likely benign" "" "0000288156" "0" "30" "14" "88452957" "88452959" "del" "0" "01943" "GALC_000040" "g.88452957_88452959del" "" "" "" "GALC(NM_000153.3):c.329-10_329-8delCTC, GALC(NM_000153.4):c.329-10_329-8delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986613_87986615del" "" "likely benign" "" "0000288157" "0" "10" "14" "88452945" "88452945" "subst" "0.0331963" "01943" "GALC_000039" "g.88452945G>A" "" "" "" "GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986601G>A" "" "benign" "" "0000288158" "0" "70" "14" "88452862" "88452864" "del" "0" "01943" "GALC_000037" "g.88452862_88452864del" "" "" "" "GALC(NM_000153.3):c.411_413delTAA (p.K139del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986518_87986520del" "" "likely pathogenic" "" "0000288159" "0" "30" "14" "88459468" "88459468" "subst" "0.00140729" "01943" "GALC_000052" "g.88459468G>C" "" "" "" "GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)), GALC(NM_000153.4):c.41C>G (p.A14G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993124G>C" "" "likely benign" "" "0000288160" "0" "10" "14" "88459467" "88459467" "subst" "0.117335" "01943" "GALC_000051" "g.88459467C>G" "" "" "" "GALC(NM_000153.3):c.42G>C (p.A14=), GALC(NM_000153.4):c.42G>C (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993123C>G" "" "benign" "" "0000288161" "0" "90" "14" "88452845" "88452845" "del" "1.62649E-5" "01943" "GALC_000036" "g.88452845del" "" "" "" "GALC(NM_000153.3):c.430delA (p.I144Lfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87986501del" "" "pathogenic" "" "0000288162" "0" "30" "14" "88450795" "88450795" "subst" "0.00168581" "01943" "GALC_000035" "g.88450795G>A" "" "" "" "GALC(NM_000153.3):c.525C>T (p.V175=), GALC(NM_000153.4):c.525C>T (p.V175=, p.(Val175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87984451G>A" "" "likely benign" "" "0000288163" "0" "30" "14" "88450790" "88450790" "subst" "0.000284347" "01943" "GALC_000034" "g.88450790G>T" "" "" "" "GALC(NM_000153.3):c.530C>A (p.T177N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87984446G>T" "" "likely benign" "" "0000288164" "0" "10" "14" "88450770" "88450770" "subst" "0.0420161" "01943" "GALC_000001" "g.88450770G>A" "" "" "" "GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87984426G>A" "" "benign" "" "0000288165" "0" "10" "14" "88459448" "88459448" "subst" "0.115055" "01943" "GALC_000050" "g.88459448C>G" "" "" "" "GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993104C>G" "" "benign" "" "0000288166" "0" "90" "14" "88448548" "88448548" "subst" "8.20028E-6" "01943" "GALC_000033" "g.88448548C>T" "" "" "" "GALC(NM_000153.3):c.621+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87982204C>T" "" "pathogenic" "" "0000288167" "0" "10" "14" "88442712" "88442712" "subst" "0.126653" "01943" "GALC_000031" "g.88442712C>T" "" "" "" "GALC(NM_000153.3):c.742G>A (p.D248N), GALC(NM_000153.4):c.742G>A (p.D248N), GALC(NM_001201402.2):c.664G>A (p.D222N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87976368C>T" "" "benign" "" "0000288168" "0" "10" "14" "88459434" "88459434" "subst" "0.110574" "01943" "GALC_000049" "g.88459434G>T" "" "" "" "GALC(NM_000153.3):c.75C>A (p.G25=), GALC(NM_000153.4):c.75C>A (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993090G>T" "" "benign" "" "0000288169" "0" "50" "14" "88431926" "88431926" "subst" "0.00152692" "01943" "GALC_000029" "g.88431926T>C" "" "" "" "GALC(NM_000153.3):c.956A>G (p.Y319C), GALC(NM_000153.4):c.956A>G (p.(Tyr319Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965582T>C" "" "VUS" "" "0000288170" "0" "10" "14" "88459413" "88459413" "subst" "0.00106857" "01943" "GALC_000048" "g.88459413C>A" "" "" "" "GALC(NM_000153.3):c.96G>T (p.L32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87993069C>A" "" "benign" "" "0000288171" "0" "10" "14" "88431898" "88431898" "subst" "0.388583" "01943" "GALC_000028" "g.88431898C>T" "" "" "" "GALC(NM_000153.3):c.984G>A (p.Q328=), GALC(NM_000153.4):c.984G>A (p.Q328=), GALC(NM_001201402.2):c.906G>A (p.Q302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87965554C>T" "" "benign" "" "0000349550" "0" "90" "14" "88411981" "88411981" "subst" "9.77143E-5" "02327" "GALC_000022" "g.88411981G>A" "" "" "" "GALC(NM_000153.3):c.1586C>T (p.T529M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.87945637G>A" "" "pathogenic" "" "0000404713" "1" "70" "14" "88454867" "88454867" "subst" "0" "00006" "GALC_000057" "g.88454867C>T" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.87988523C>T" "" "likely pathogenic" "ACMG" "0000404736" "2" "70" "14" "88434737" "88434737" "subst" "8.13226E-6" "00006" "GALC_000056" "g.88434737C>T" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.87968393C>T" "" "likely pathogenic" "ACMG" "0000553216" "0" "90" "14" "88401129" "88401132" "del" "0" "01943" "GALC_000058" "g.88401129_88401132del" "" "" "" "GALC(NM_000153.3):c.2006_2009delACTC (p.H669Pfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87934785_87934788del" "" "pathogenic" "" "0000553217" "0" "70" "14" "88401137" "88401137" "subst" "8.15129E-6" "01943" "GALC_000059" "g.88401137A>G" "" "" "" "GALC(NM_000153.3):c.1997T>C (p.I666T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87934793A>G" "" "likely pathogenic" "" "0000553218" "0" "10" "14" "88407728" "88407729" "dup" "0" "02330" "GALC_000060" "g.88407728_88407729dup" "" "" "" "GALC(NM_000153.4):c.1834+21_1834+22dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941384_87941385dup" "" "benign" "" "0000553219" "0" "10" "14" "88407729" "88407729" "dup" "0" "02330" "GALC_000011" "g.88407729dup" "" "" "" "GALC(NM_000153.4):c.1834+22dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941385dup" "" "benign" "" "0000553220" "0" "90" "14" "88407759" "88407759" "dup" "0" "01943" "GALC_000061" "g.88407759dup" "" "" "" "GALC(NM_000153.3):c.1814dupA (p.Y605*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941415dup" "" "pathogenic" "" "0000553221" "0" "10" "14" "88407785" "88407785" "subst" "0.00158592" "01943" "GALC_000062" "g.88407785G>A" "" "" "" "GALC(NM_000153.3):c.1788C>T (p.F596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941441G>A" "" "benign" "" "0000553222" "0" "30" "14" "88407842" "88407842" "subst" "0.00188687" "02330" "GALC_000063" "g.88407842G>A" "" "" "" "GALC(NM_000153.4):c.1731C>T (p.F577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941498G>A" "" "likely benign" "" "0000553223" "0" "30" "14" "88407864" "88407864" "subst" "0" "01943" "GALC_000064" "g.88407864G>C" "" "" "" "GALC(NM_000153.3):c.1709C>G (p.T570S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941520G>C" "" "likely benign" "" "0000553224" "0" "30" "14" "88411878" "88411878" "subst" "0.000676546" "02330" "GALC_000065" "g.88411878T>A" "" "" "" "GALC(NM_000153.4):c.1670+19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87945534T>A" "" "likely benign" "" "0000553225" "0" "90" "14" "88411937" "88411937" "subst" "0" "02327" "GALC_000019" "g.88411937C>T" "" "" "" "GALC(NM_000153.3):c.1630G>A (p.D544N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87945593C>T" "" "pathogenic" "" "0000553226" "0" "10" "14" "88411947" "88411947" "subst" "0.985292" "02330" "GALC_000066" "g.88411947T>C" "" "" "" "GALC(NM_000153.4):c.1620A>G (p.T540=), GALC(NM_001201402.2):c.1542A>G (p.T514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87945603T>C" "" "benign" "" "0000553227" "0" "10" "14" "88411947" "88411947" "subst" "0.985292" "02325" "GALC_000066" "g.88411947T>C" "" "" "" "GALC(NM_000153.4):c.1620A>G (p.T540=), GALC(NM_001201402.2):c.1542A>G (p.T514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87945603T>C" "" "benign" "" "0000553228" "0" "30" "14" "88417106" "88417106" "del" "0" "01804" "GALC_000006" "g.88417106del" "" "" "" "GALC(NM_000153.3):c.1162-4delT, GALC(NM_000153.3):c.1162-4delT (p.?), GALC(NM_000153.4):c.1162-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87950762del" "" "likely benign" "" "0000553229" "0" "10" "14" "88417106" "88417106" "del" "0" "02326" "GALC_000006" "g.88417106del" "" "" "" "GALC(NM_000153.3):c.1162-4delT, GALC(NM_000153.3):c.1162-4delT (p.?), GALC(NM_000153.4):c.1162-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87950762del" "" "benign" "" "0000553230" "0" "10" "14" "88429817" "88429817" "subst" "0.00396748" "02330" "GALC_000067" "g.88429817G>A" "" "" "" "GALC(NM_000153.4):c.1072C>T (p.L358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87963473G>A" "" "benign" "" "0000553231" "0" "90" "14" "88431926" "88431926" "subst" "0.00152692" "01804" "GALC_000029" "g.88431926T>C" "" "" "" "GALC(NM_000153.3):c.956A>G (p.Y319C), GALC(NM_000153.4):c.956A>G (p.(Tyr319Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87965582T>C" "" "pathogenic" "" "0000553232" "0" "50" "14" "88431955" "88431955" "subst" "4.07262E-6" "01943" "GALC_000068" "g.88431955T>G" "" "" "" "GALC(NM_000153.3):c.927A>C (p.L309F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87965611T>G" "" "VUS" "" "0000553233" "0" "30" "14" "88448534" "88448534" "subst" "4.24802E-6" "02330" "GALC_000069" "g.88448534T>C" "" "" "" "GALC(NM_000153.4):c.621+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87982190T>C" "" "likely benign" "" "0000553234" "0" "70" "14" "88450778" "88450778" "subst" "0" "02329" "GALC_000070" "g.88450778C>T" "" "" "" "GALC(NM_000153.4):c.542G>A (p.G181D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87984434C>T" "" "likely pathogenic" "" "0000553235" "0" "30" "14" "88450795" "88450795" "subst" "0.00168581" "02330" "GALC_000035" "g.88450795G>A" "" "" "" "GALC(NM_000153.3):c.525C>T (p.V175=), GALC(NM_000153.4):c.525C>T (p.V175=, p.(Val175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87984451G>A" "" "likely benign" "" "0000553236" "0" "30" "14" "88450859" "88450859" "subst" "1.21908E-5" "01943" "GALC_000071" "g.88450859G>T" "" "" "" "GALC(NM_000153.3):c.461C>A (p.P154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87984515G>T" "" "likely benign" "" "0000553237" "0" "30" "14" "88450888" "88450888" "subst" "0" "02330" "GALC_000072" "g.88450888A>C" "" "" "" "GALC(NM_000153.4):c.443-11T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87984544A>C" "" "likely benign" "" "0000553238" "0" "50" "14" "88452941" "88452941" "subst" "0.00252024" "02330" "GALC_000004" "g.88452941T>C" "" "" "" "GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87986597T>C" "" "VUS" "" "0000553239" "0" "50" "14" "88452941" "88452941" "subst" "0.00252024" "01943" "GALC_000004" "g.88452941T>C" "" "" "" "GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87986597T>C" "" "VUS" "" "0000553240" "0" "50" "14" "88452941" "88452941" "subst" "0.00252024" "01804" "GALC_000004" "g.88452941T>C" "" "" "" "GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87986597T>C" "" "VUS" "" "0000553242" "0" "50" "14" "88452941" "88452941" "subst" "0.00252024" "02325" "GALC_000004" "g.88452941T>C" "" "" "" "GALC(NM_000153.3):c.334A>G (p.T112A), GALC(NM_000153.4):c.334A>G (p.T112A, p.(Thr112Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87986597T>C" "" "VUS" "" "0000553244" "0" "30" "14" "88454482" "88454482" "subst" "0.000105671" "02330" "GALC_000042" "g.88454482T>C" "" "" "" "GALC(NM_000153.3):c.328+6A>G, GALC(NM_000153.4):c.328+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87988138T>C" "" "likely benign" "" "0000553245" "0" "70" "14" "88454487" "88454487" "subst" "8.1279E-6" "02329" "GALC_000073" "g.88454487C>A" "" "" "" "GALC(NM_000153.4):c.328+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87988143C>A" "" "likely pathogenic" "" "0000553246" "0" "30" "14" "88454876" "88454876" "subst" "1.22619E-5" "01943" "GALC_000074" "g.88454876A>G" "" "" "" "GALC(NM_000153.3):c.196-9T>C, GALC(NM_001201402.2):c.118-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87988532A>G" "" "likely benign" "" "0000553247" "0" "30" "14" "88454879" "88454879" "dup" "0" "02330" "GALC_000075" "g.88454879dup" "" "" "" "GALC(NM_000153.4):c.196-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87988535dup" "" "likely benign" "" "0000553248" "0" "30" "14" "88459295" "88459295" "subst" "0.00160291" "02330" "GALC_000076" "g.88459295C>T" "" "" "" "GALC(NM_000153.4):c.195+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87992951C>T" "" "likely benign" "" "0000553249" "0" "50" "14" "88459351" "88459351" "subst" "0" "02330" "GALC_000077" "g.88459351C>G" "" "" "" "GALC(NM_000153.4):c.158G>C (p.R53P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993007C>G" "" "VUS" "" "0000553250" "0" "50" "14" "88459444" "88459444" "subst" "5.35212E-6" "02330" "GALC_000078" "g.88459444C>G" "" "" "" "GALC(NM_000153.4):c.65G>C (p.G22A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993100C>G" "" "VUS" "" "0000553251" "0" "30" "14" "88459444" "88459444" "subst" "7.49296E-5" "01943" "GALC_000079" "g.88459444C>T" "" "" "" "GALC(NM_000153.3):c.65G>A (p.G22D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993100C>T" "" "likely benign" "" "0000553252" "0" "30" "14" "88459449" "88459449" "subst" "0.000165194" "01943" "GALC_000080" "g.88459449G>A" "" "" "" "GALC(NM_000153.3):c.60C>T (p.A20=), GALC(NM_000153.4):c.60C>T (p.A20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993105G>A" "" "likely benign" "" "0000553253" "0" "30" "14" "88459468" "88459468" "subst" "0.00140729" "01804" "GALC_000052" "g.88459468G>C" "" "" "" "GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)), GALC(NM_000153.4):c.41C>G (p.A14G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993124G>C" "" "likely benign" "" "0000553254" "0" "30" "14" "88459793" "88459793" "subst" "0.000261627" "01943" "GALC_000081" "g.88459793C>T" "" "" "" "GALC(NM_001201402.1):c.51G>A (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993449C>T" "" "likely benign" "" "0000553255" "0" "30" "14" "88459826" "88459826" "subst" "0.00138836" "01943" "GALC_000054" "g.88459826A>G" "" "" "" "GALC(NM_001201402.1):c.18T>C (p.H6=), GALC(NM_001201402.2):c.18T>C (p.H6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993482A>G" "" "likely benign" "" "0000553256" "0" "30" "14" "88459835" "88459835" "subst" "0.00126265" "02330" "GALC_000082" "g.88459835C>A" "" "" "" "GALC(NM_001201402.1):c.9G>T (p.G3=), GALC(NM_001201402.2):c.9G>T (p.G3=, p.(Gly3=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993491C>A" "" "likely benign" "" "0000553257" "0" "50" "14" "88459835" "88459835" "subst" "0.00126265" "01943" "GALC_000082" "g.88459835C>A" "" "" "" "GALC(NM_001201402.1):c.9G>T (p.G3=), GALC(NM_001201402.2):c.9G>T (p.G3=, p.(Gly3=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993491C>A" "" "VUS" "" "0000553258" "0" "30" "14" "88459835" "88459835" "subst" "0" "02330" "GALC_000083" "g.88459835C>G" "" "" "" "GALC(NM_001201402.2):c.9G>C (p.G3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993491C>G" "" "likely benign" "" "0000615120" "0" "90" "14" "88407759" "88407759" "dup" "0" "02327" "GALC_000061" "g.88407759dup" "" "" "" "GALC(NM_000153.3):c.1814dupA (p.Y605*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87941415dup" "" "pathogenic" "" "0000615121" "0" "30" "14" "88431876" "88431876" "subst" "0.000830402" "02330" "GALC_000084" "g.88431876C>T" "" "" "" "GALC(NM_000153.4):c.1006G>A (p.V336M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87965532C>T" "" "likely benign" "" "0000615122" "0" "50" "14" "88452866" "88452866" "subst" "0" "01943" "GALC_000085" "g.88452866C>A" "" "" "" "GALC(NM_000153.3):c.409G>T (p.A137S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87986522C>A" "" "VUS" "" "0000615123" "0" "30" "14" "88459783" "88459783" "subst" "0" "01804" "GALC_000086" "g.88459783T>C" "" "" "" "GALC(NM_001201402.1):c.61A>G (p.(Ile21Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87993439T>C" "" "likely benign" "" "0000648985" "1" "70" "14" "88411975" "88411975" "subst" "4.88647E-5" "03575" "GALC_000087" "g.88411975C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200378205}" "Germline" "" "rs200378205" "0" "" "" "g.87945631C>T" "" "likely pathogenic" "" "0000648986" "1" "50" "14" "88431926" "88431926" "subst" "0.00152692" "03575" "GALC_000029" "g.88431926T>C" "43/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 43 heterozygous; {DB:CLININrs183105855}" "Germline" "" "rs183105855" "0" "" "" "g.87965582T>C" "" "VUS" "" "0000648988" "1" "70" "14" "88434730" "88434730" "subst" "2.03313E-5" "03575" "GALC_000088" "g.88434730C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199847983}" "Germline" "" "rs199847983" "0" "" "" "g.87968386C>T" "" "likely pathogenic" "" "0000648989" "1" "30" "14" "88450770" "88450770" "subst" "0.0420161" "03575" "GALC_000001" "g.88450770G>A" "160/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "160 heterozygous; {DB:CLININrs1805078}" "Germline" "" "rs1805078" "0" "" "" "g.87984426G>A" "" "likely benign" "" "0000648990" "1" "50" "14" "88452941" "88452941" "subst" "0.00252024" "03575" "GALC_000004" "g.88452941T>C" "7/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs147313927}" "Germline" "" "rs147313927" "0" "" "" "g.87986597T>C" "" "VUS" "" "0000648991" "1" "30" "14" "88452945" "88452945" "subst" "0.0331963" "03575" "GALC_000039" "g.88452945G>A" "95/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "95 heterozygous; {DB:CLININrs11552556}" "Germline" "" "rs11552556" "0" "" "" "g.87986601G>A" "" "likely benign" "" "0000657503" "0" "90" "14" "88411975" "88411975" "subst" "4.88647E-5" "02330" "GALC_000087" "g.88411975C>T" "" "" "" "GALC(NM_000153.4):c.1592G>A (p.R531H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.87945631C>T" "" "pathogenic" "" "0000669264" "3" "50" "14" "88431926" "88431926" "subst" "0.00152692" "03575" "GALC_000029" "g.88431926T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs183105855}" "Germline" "" "rs183105855" "0" "" "" "g.87965582T>C" "" "VUS" "" "0000669265" "3" "30" "14" "88450770" "88450770" "subst" "0.0420161" "03575" "GALC_000001" "g.88450770G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs1805078}" "Germline" "" "rs1805078" "0" "" "" "g.87984426G>A" "" "likely benign" "" "0000669266" "3" "30" "14" "88452945" "88452945" "subst" "0.0331963" "03575" "GALC_000039" "g.88452945G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs11552556}" "Germline" "" "rs11552556" "0" "" "" "g.87986601G>A" "" "likely benign" "" "0000680067" "0" "30" "14" "88407821" "88407821" "subst" "5.70237E-5" "02330" "GALC_000089" "g.88407821T>C" "" "" "" "GALC(NM_000153.4):c.1752A>G (p.K584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680069" "0" "30" "14" "88417003" "88417003" "subst" "1.22676E-5" "01804" "GALC_000090" "g.88417003A>G" "" "" "" "GALC(NM_000153.3):c.1251T>C (p.F417=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680070" "0" "90" "14" "88429779" "88429779" "subst" "4.47628E-5" "01943" "GALC_000091" "g.88429779G>C" "" "" "" "GALC(NM_000153.3):c.1110C>G (p.Y370*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680071" "0" "30" "14" "88459449" "88459449" "subst" "0.000165194" "02330" "GALC_000080" "g.88459449G>A" "" "" "" "GALC(NM_000153.3):c.60C>T (p.A20=), GALC(NM_000153.4):c.60C>T (p.A20=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691727" "0" "30" "14" "88459427" "88459427" "subst" "8.09857E-5" "01943" "GALC_000092" "g.88459427C>T" "" "" "" "GALC(NM_000153.3):c.82G>A (p.A28T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724901" "0" "70" "14" "88412013" "88412013" "del" "0" "02329" "GALC_000093" "g.88412013del" "" "" "" "GALC(NM_000153.4):c.1556delA (p.N519Ifs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724902" "0" "30" "14" "88416255" "88416255" "subst" "8.97183E-5" "01943" "GALC_000094" "g.88416255C>T" "" "" "" "GALC(NM_000153.3):c.1272G>A (p.Q424=), GALC(NM_000153.4):c.1272G>A (p.Q424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724903" "0" "50" "14" "88459344" "88459344" "subst" "4.37618E-5" "02330" "GALC_000095" "g.88459344G>C" "" "" "" "GALC(NM_000153.4):c.165C>G (p.F55L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000759813" "0" "90" "14" "88406274" "88406274" "subst" "0" "03566" "GALC_000116" "g.88406274C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.87939930C>G" "" "pathogenic" "ACMG" "0000786866" "0" "50" "14" "88431926" "88431926" "subst" "0.00152692" "00006" "GALC_000029" "g.88431926T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.87965582T>C" "" "VUS" "" "0000787098" "3" "90" "14" "88401076" "88417092" "del" "0" "00006" "GALC_000097" "g.(?_88401076)_(88417092_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr14:88401076-?_88417092+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000787285" "3" "50" "14" "88434811" "88434811" "subst" "0" "00006" "GALC_000101" "g.88434811G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.87968467G>A" "" "VUS" "" "0000787286" "3" "50" "14" "88411907" "88411907" "subst" "0" "00006" "GALC_000099" "g.88411907C>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.87945563C>G" "" "VUS" "" "0000787466" "3" "50" "14" "88407888" "88407888" "subst" "0" "00000" "GALC_000098" "g.88407888A>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.87941544A>T" "" "VUS" "" "0000787477" "2" "90" "14" "88417025" "88417025" "del" "0" "00000" "GALC_000100" "g.88417025del" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.87950681del" "" "pathogenic" "" "0000806523" "0" "50" "14" "88407876" "88407876" "subst" "0" "01943" "GALC_000102" "g.88407876A>C" "" "" "" "GALC(NM_000153.3):c.1697T>G (p.V566G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806524" "0" "50" "14" "88431885" "88431885" "subst" "0.000492478" "01943" "GALC_000103" "g.88431885C>T" "" "" "" "GALC(NM_000153.3):c.997G>A (p.G333R), GALC(NM_000153.4):c.997G>A (p.(Gly333Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853904" "0" "50" "14" "88407754" "88407754" "subst" "0" "02327" "GALC_000105" "g.88407754C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853905" "0" "50" "14" "88411952" "88411952" "subst" "0" "02327" "GALC_000106" "g.88411952T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853906" "0" "30" "14" "88411980" "88411980" "subst" "1.62866E-5" "01943" "GALC_000107" "g.88411980C>T" "" "" "" "GALC(NM_000153.3):c.1587G>A (p.T529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853907" "0" "30" "14" "88417003" "88417003" "subst" "1.22676E-5" "01943" "GALC_000090" "g.88417003A>G" "" "" "" "GALC(NM_000153.3):c.1251T>C (p.F417=, p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853908" "0" "30" "14" "88434847" "88434847" "dup" "0" "02330" "GALC_000108" "g.88434847dup" "" "" "" "GALC(NM_000153.4):c.753-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863700" "0" "30" "14" "88406295" "88406295" "subst" "4.07339E-6" "01943" "GALC_000104" "g.88406295A>T" "" "" "" "GALC(NM_000153.3):c.1865T>A (p.V622D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863701" "0" "30" "14" "88454789" "88454789" "subst" "1.62876E-5" "01943" "GALC_000109" "g.88454789T>C" "" "" "" "GALC(NM_000153.3):c.264+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873166" "0" "50" "14" "88452941" "88452941" "subst" "0.00252024" "03208" "GALC_000004" "g.88452941T>C" "" "Pennings et al. 2022, in progress" "" "NM_000153.4:c.334A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000873167" "0" "50" "14" "88452941" "88452941" "subst" "0.00252024" "03208" "GALC_000004" "g.88452941T>C" "" "Pennings et al. 2022, in progress" "" "NM_000153.4:c.334A>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000874656" "3" "70" "14" "88452941" "88452941" "subst" "0.00252024" "00000" "GALC_000004" "g.88452941T>C" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "GALC, NM_000153.3, c.334A>G, p.Thr112Ala" "homozygous" "Unknown" "?" "" "0" "" "" "g.87986597T>C" "" "likely pathogenic" "ACMG" "0000879973" "1" "70" "14" "88431983" "88431983" "subst" "1.22452E-5" "00006" "GALC_000110" "g.88431983T>C" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PM3, PM4, PP4" "Germline" "" "" "0" "" "" "g.87965639T>C" "" "likely pathogenic" "ACMG" "0000879981" "2" "70" "14" "88434674" "88434674" "subst" "0" "00006" "GALC_000111" "g.88434674C>T" "" "{PMID:He 2022:35121647}" "" "" "ACMG PM2, PM3_sup, PM4, PP4" "Germline" "" "" "0" "" "" "g.87968330C>T" "" "likely pathogenic" "ACMG" "0000891915" "0" "90" "14" "88407873" "88407873" "subst" "5.29955E-5" "02327" "GALC_000014" "g.88407873T>G" "" "" "" "GALC(NM_000153.3):c.1700A>C (p.Y567S), GALC(NM_000153.4):c.1700A>C (p.Y567S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000891916" "0" "30" "14" "88416255" "88416255" "subst" "8.97183E-5" "02330" "GALC_000094" "g.88416255C>T" "" "" "" "GALC(NM_000153.3):c.1272G>A (p.Q424=), GALC(NM_000153.4):c.1272G>A (p.Q424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891917" "0" "50" "14" "88459456" "88459456" "subst" "5.24962E-5" "02330" "GALC_000112" "g.88459456G>A" "" "" "" "GALC(NM_000153.4):c.53C>T (p.T18I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891918" "0" "30" "14" "88459826" "88459826" "subst" "0.00138836" "02326" "GALC_000054" "g.88459826A>G" "" "" "" "GALC(NM_001201402.1):c.18T>C (p.H6=), GALC(NM_001201402.2):c.18T>C (p.H6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000906100" "1" "90" "14" "88411981" "88411981" "subst" "9.77143E-5" "00006" "GALC_000022" "g.88411981G>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.87945637G>A" "" "pathogenic (recessive)" "" "0000906158" "0" "90" "14" "88407873" "88407873" "subst" "5.29955E-5" "00006" "GALC_000014" "g.88407873T>G" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.87941529T>G" "" "pathogenic (recessive)" "" "0000914225" "0" "50" "14" "88401143" "88401143" "subst" "0" "02327" "GALC_000113" "g.88401143G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914226" "0" "10" "14" "88401213" "88401213" "subst" "0.984838" "02329" "GALC_000008" "g.88401213T>C" "" "" "" "GALC(NM_000153.4):c.1921A>G (p.T641A), GALC(NM_001201402.2):c.1843A>G (p.T615A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914227" "0" "10" "14" "88407734" "88407734" "subst" "0.984295" "02329" "GALC_000012" "g.88407734G>C" "" "" "" "GALC(NM_000153.4):c.1834+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914228" "0" "10" "14" "88407875" "88407875" "subst" "0.984928" "02329" "GALC_000015" "g.88407875T>A" "" "" "" "GALC(NM_000153.4):c.1698A>T (p.V566=), GALC(NM_001201402.2):c.1620A>T (p.V540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914229" "0" "10" "14" "88407888" "88407888" "subst" "0.434404" "02329" "GALC_000016" "g.88407888A>G" "" "" "" "GALC(NM_000153.3):c.1685T>C (p.I562T), GALC(NM_000153.4):c.1685T>C (p.I562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914230" "0" "10" "14" "88407917" "88407917" "subst" "0.549541" "02329" "GALC_000017" "g.88407917G>A" "" "" "" "GALC(NM_000153.3):c.1671-15C>T, GALC(NM_000153.4):c.1671-15C>T, GALC(NM_001201402.2):c.1593-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914231" "0" "10" "14" "88411947" "88411947" "subst" "0.985292" "02329" "GALC_000066" "g.88411947T>C" "" "" "" "GALC(NM_000153.4):c.1620A>G (p.T540=), GALC(NM_001201402.2):c.1542A>G (p.T514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914232" "0" "10" "14" "88414211" "88414211" "subst" "0.368767" "02329" "GALC_000023" "g.88414211G>A" "" "" "" "GALC(NM_000153.3):c.1350C>T (p.S450=), GALC(NM_000153.4):c.1350C>T (p.S450=), GALC(NM_001201402.2):c.1272C>T (p.S424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914233" "0" "10" "14" "88417106" "88417106" "del" "0" "02329" "GALC_000006" "g.88417106del" "" "" "" "GALC(NM_000153.3):c.1162-4delT, GALC(NM_000153.3):c.1162-4delT (p.?), GALC(NM_000153.4):c.1162-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914234" "0" "10" "14" "88431898" "88431898" "subst" "0.388583" "02329" "GALC_000028" "g.88431898C>T" "" "" "" "GALC(NM_000153.3):c.984G>A (p.Q328=), GALC(NM_000153.4):c.984G>A (p.Q328=), GALC(NM_001201402.2):c.906G>A (p.Q302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914235" "0" "90" "14" "88431926" "88431926" "subst" "0.00152692" "02327" "GALC_000029" "g.88431926T>C" "" "" "" "GALC(NM_000153.3):c.956A>G (p.Y319C), GALC(NM_000153.4):c.956A>G (p.(Tyr319Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914236" "0" "10" "14" "88442712" "88442712" "subst" "0.126653" "02329" "GALC_000031" "g.88442712C>T" "" "" "" "GALC(NM_000153.3):c.742G>A (p.D248N), GALC(NM_000153.4):c.742G>A (p.D248N), GALC(NM_001201402.2):c.664G>A (p.D222N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914237" "0" "10" "14" "88450770" "88450770" "subst" "0.0420161" "02329" "GALC_000001" "g.88450770G>A" "" "" "" "GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914238" "0" "10" "14" "88452945" "88452945" "subst" "0.0331963" "02329" "GALC_000039" "g.88452945G>A" "" "" "" "GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914239" "0" "10" "14" "88454469" "88454469" "subst" "0.126611" "02329" "GALC_000041" "g.88454469A>T" "" "" "" "GALC(NM_000153.3):c.328+19T>A, GALC(NM_000153.4):c.328+19T>A, GALC(NM_001201402.2):c.250+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914240" "0" "30" "14" "88454876" "88454876" "subst" "1.22619E-5" "02330" "GALC_000074" "g.88454876A>G" "" "" "" "GALC(NM_000153.3):c.196-9T>C, GALC(NM_001201402.2):c.118-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914241" "0" "10" "14" "88459434" "88459434" "subst" "0.110574" "02329" "GALC_000049" "g.88459434G>T" "" "" "" "GALC(NM_000153.3):c.75C>A (p.G25=), GALC(NM_000153.4):c.75C>A (p.G25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914242" "0" "10" "14" "88459448" "88459448" "subst" "0.115055" "02329" "GALC_000050" "g.88459448C>G" "" "" "" "GALC(NM_000153.3):c.61G>C (p.A21P), GALC(NM_000153.4):c.61G>C (p.A21P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914243" "0" "10" "14" "88459467" "88459467" "subst" "0.117335" "02329" "GALC_000051" "g.88459467C>G" "" "" "" "GALC(NM_000153.3):c.42G>C (p.A14=), GALC(NM_000153.4):c.42G>C (p.A14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914244" "0" "10" "14" "88459795" "88459795" "subst" "0.0627349" "02329" "GALC_000053" "g.88459795C>T" "" "" "" "GALC(NM_001201402.2):c.49G>A (p.A17T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925924" "0" "10" "14" "88423280" "88423280" "dup" "0" "02330" "GALC_000114" "g.88423280dup" "" "" "" "GALC(NM_000153.4):c.1162-6183dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930345" "0" "10" "14" "88431969" "88431969" "subst" "0.00784613" "02330" "GALC_000003" "g.88431969T>C" "" "" "" "GALC(NM_000153.4):c.913A>G (p.(Ile305Val), p.I305V), GALC(NM_001201402.2):c.835A>G (p.I279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000936012" "3" "90" "14" "88406259" "88406259" "subst" "0.000643653" "00006" "GALC_000115" "g.88406259A>G" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.87939915A>G" "" "pathogenic" "" "0000950296" "0" "50" "14" "88406259" "88406259" "subst" "0.000643653" "02330" "GALC_000115" "g.88406259A>G" "" "" "" "GALC(NM_001201402.2):c.1823T>C (p.L608S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967597" "0" "30" "14" "88459468" "88459468" "subst" "0.00140729" "02330" "GALC_000052" "g.88459468G>C" "" "" "" "GALC(NM_000153.3):c.41C>G (p.A14G, p.(Ala14Gly)), GALC(NM_000153.4):c.41C>G (p.A14G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981044" "0" "50" "14" "88406262" "88406262" "subst" "0" "01804" "GALC_000117" "g.88406262G>T" "" "" "" "GALC(NM_000153.4):c.1898C>A (p.(Thr633Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981045" "0" "50" "14" "88431885" "88431885" "subst" "0.000492478" "01804" "GALC_000103" "g.88431885C>T" "" "" "" "GALC(NM_000153.3):c.997G>A (p.G333R), GALC(NM_000153.4):c.997G>A (p.(Gly333Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981046" "0" "10" "14" "88431969" "88431969" "subst" "0.00784613" "01804" "GALC_000003" "g.88431969T>C" "" "" "" "GALC(NM_000153.4):c.913A>G (p.(Ile305Val), p.I305V), GALC(NM_001201402.2):c.835A>G (p.I279V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981047" "0" "90" "14" "88434737" "88434737" "subst" "8.13226E-6" "01804" "GALC_000056" "g.88434737C>T" "" "" "" "GALC(NM_000153.4):c.850G>A (p.(Gly284Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981048" "0" "10" "14" "88450770" "88450770" "subst" "0.0420161" "01804" "GALC_000001" "g.88450770G>A" "" "" "" "GALC(NM_000153.3):c.550C>T (p.R184C), GALC(NM_000153.4):c.550C>T (p.R184C, p.(Arg184Cys)), GALC(NM_001201402.2):c.472C>T (p.R158C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000981049" "0" "30" "14" "88450795" "88450795" "subst" "0.00168581" "01804" "GALC_000035" "g.88450795G>A" "" "" "" "GALC(NM_000153.3):c.525C>T (p.V175=), GALC(NM_000153.4):c.525C>T (p.V175=, p.(Val175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040136" "0" "50" "14" "88407864" "88407864" "subst" "6.11521E-5" "01804" "GALC_000118" "g.88407864G>T" "" "" "" "GALC(NM_000153.4):c.1709C>A (p.(Thr570Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040137" "0" "10" "14" "88452945" "88452945" "subst" "0.0331963" "01804" "GALC_000039" "g.88452945G>A" "" "" "" "GALC(NM_000153.3):c.330C>T (p.D110=), GALC(NM_000153.4):c.330C>T (p.D110=, p.(Asp110=)), GALC(NM_001201402.2):c.252C>T (p.D84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001040138" "0" "30" "14" "88459835" "88459835" "subst" "0.00126265" "01804" "GALC_000082" "g.88459835C>A" "" "" "" "GALC(NM_001201402.1):c.9G>T (p.G3=), GALC(NM_001201402.2):c.9G>T (p.G3=, p.(Gly3=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046483" "0" "10" "14" "88407888" "88407888" "subst" "0.434404" "02327" "GALC_000016" "g.88407888A>G" "" "" "" "GALC(NM_000153.3):c.1685T>C (p.I562T), GALC(NM_000153.4):c.1685T>C (p.I562T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## 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 GALC ## Count = 215 "{{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}}" "0000000425" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000426" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000427" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000428" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000429" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000430" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000431" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000432" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000433" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000434" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000435" "00025233" "00" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "5" "0000000436" "00025233" "00" "1403" "0" "1403" "0" "c.1403C>G" "r.(?)" "p.(Thr468Ser)" "13" "0000000437" "00025233" "00" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "9" "0000000438" "00025233" "00" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "9" "0000150684" "00025233" "90" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "4" "0000244160" "00025233" "90" "1987" "0" "1987" "0" "c.1987T>G" "r.(?)" "p.(Trp663Gly)" "17" "0000244161" "00025233" "90" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "10i" "0000247208" "00025233" "10" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Ile562Thr)" "" "0000247218" "00025233" "10" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "" "0000247219" "00025233" "10" "328" "19" "328" "19" "c.328+19T>A" "r.(=)" "p.(=)" "" "0000247253" "00025233" "10" "397" "0" "397" "0" "c.397T>C" "r.(?)" "p.(Leu133=)" "" "0000247271" "00025233" "10" "264" "17" "264" "17" "c.264+17T>G" "r.(=)" "p.(=)" "" "0000247275" "00025233" "30" "-318" "0" "-318" "0" "c.-318T>C" "r.(?)" "p.(=)" "" "0000247918" "00025233" "10" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Ile562Thr)" "" "0000249194" "00025233" "10" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "" "0000253179" "00025233" "10" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Ile562Thr)" "" "0000253421" "00025233" "10" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "" "0000253422" "00025233" "10" "328" "19" "328" "19" "c.328+19T>A" "r.(=)" "p.(=)" "" "0000253881" "00025233" "10" "621" "24" "621" "24" "c.621+24T>C" "r.(=)" "p.(=)" "" "0000254347" "00025233" "30" "1632" "0" "1632" "0" "c.1632T>C" "r.(?)" "p.(Asp544=)" "" "0000276928" "00025233" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Ser434=)" "" "0000276929" "00025233" "10" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Ser450=)" "" "0000276930" "00025233" "50" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Gly52Ser)" "" "0000276931" "00025233" "10" "1671" "-15" "1671" "-15" "c.1671-15C>T" "r.(=)" "p.(=)" "" "0000276932" "00025233" "10" "1698" "0" "1698" "0" "c.1698A>T" "r.(?)" "p.(Val566=)" "" "0000276935" "00025233" "10" "1834" "5" "1834" "5" "c.1834+5C>G" "r.spl?" "p.?" "" "0000276936" "00025233" "10" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Thr641Ala)" "" "0000276938" "00025233" "30" "329" "-10" "329" "-8" "c.329-10_329-8del" "r.(=)" "p.(=)" "" "0000276939" "00025233" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asp110=)" "" "0000276940" "00025233" "10" "42" "0" "42" "0" "c.42G>C" "r.(?)" "p.(Ala14=)" "" "0000276941" "00025233" "10" "-287" "0" "-287" "0" "c.-287G>A" "r.(?)" "p.(=)" "" "0000276942" "00025233" "10" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000276943" "00025233" "10" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Ala21Pro)" "" "0000276944" "00025233" "10" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" "0000276945" "00025233" "10" "75" "0" "75" "0" "c.75C>A" "r.(?)" "p.(Gly25=)" "" "0000276946" "00025233" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "0000276947" "00025233" "10" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Gln328=)" "" "0000280970" "00025233" "10" "2781" "0" "2781" "0" "c.*723G>A" "r.(=)" "p.(=)" "" "0000280971" "00025233" "10" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Ser450=)" "" "0000280972" "00025233" "10" "1671" "-15" "1671" "-15" "c.1671-15C>T" "r.(=)" "p.(=)" "" "0000280973" "00025233" "10" "1698" "0" "1698" "0" "c.1698A>T" "r.(?)" "p.(Val566=)" "" "0000280974" "00025233" "90" "1700" "0" "1700" "0" "c.1700A>C" "r.(?)" "p.(Tyr567Ser)" "" "0000280975" "00025233" "10" "1834" "5" "1834" "5" "c.1834+5C>G" "r.spl?" "p.?" "" "0000280976" "00025233" "10" "1834" "22" "1834" "22" "c.1834+22dup" "r.(=)" "p.(=)" "" "0000280977" "00025233" "10" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Thr641Ala)" "" "0000280978" "00025233" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asp110=)" "" "0000280979" "00025233" "10" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Ala21Pro)" "" "0000280980" "00025233" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000280981" "00025233" "10" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Gln328=)" "" "0000288143" "00025233" "90" "1199" "0" "1199" "0" "c.1199del" "r.(?)" "p.(Pro400LeufsTer57)" "" "0000288144" "00025233" "90" "1208" "0" "1208" "0" "c.1208A>T" "r.(?)" "p.(Asn403Ile)" "" "0000288145" "00025233" "10" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Ser450=)" "" "0000288146" "00025233" "90" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Met)" "" "0000288147" "00025233" "90" "1591" "0" "1591" "0" "c.1591C>T" "r.(?)" "p.(Arg531Cys)" "" "0000288148" "00025233" "30" "1629" "0" "1629" "0" "c.1629C>T" "r.(?)" "p.(Ala543=)" "" "0000288149" "00025233" "90" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Asp544Asn)" "" "0000288150" "00025233" "10" "1671" "-15" "1671" "-15" "c.1671-15C>T" "r.(=)" "p.(=)" "" "0000288151" "00025233" "90" "1700" "0" "1700" "0" "c.1700A>C" "r.(?)" "p.(Tyr567Ser)" "" "0000288153" "00025233" "10" "195" "10" "195" "10" "c.195+10A>G" "r.(=)" "p.(=)" "" "0000288154" "00025233" "90" "264" "1" "264" "1" "c.264+1G>A" "r.spl?" "p.?" "" "0000288155" "00025233" "30" "328" "6" "328" "6" "c.328+6A>G" "r.(=)" "p.(=)" "" "0000288156" "00025233" "30" "329" "-10" "329" "-8" "c.329-10_329-8del" "r.(=)" "p.(=)" "" "0000288157" "00025233" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asp110=)" "" "0000288158" "00025233" "70" "411" "0" "413" "0" "c.411_413del" "r.(?)" "p.(Lys139del)" "" "0000288159" "00025233" "30" "41" "0" "41" "0" "c.41C>G" "r.(?)" "p.(Ala14Gly)" "" "0000288160" "00025233" "10" "42" "0" "42" "0" "c.42G>C" "r.(?)" "p.(Ala14=)" "" "0000288161" "00025233" "90" "430" "0" "430" "0" "c.430del" "r.(?)" "p.(Ile144LeufsTer27)" "" "0000288162" "00025233" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Val175=)" "" "0000288163" "00025233" "30" "530" "0" "530" "0" "c.530C>A" "r.(?)" "p.(Thr177Asn)" "" "0000288164" "00025233" "10" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000288165" "00025233" "10" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Ala21Pro)" "" "0000288166" "00025233" "90" "621" "1" "621" "1" "c.621+1G>A" "r.spl?" "p.?" "" "0000288167" "00025233" "10" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" "0000288168" "00025233" "10" "75" "0" "75" "0" "c.75C>A" "r.(?)" "p.(Gly25=)" "" "0000288169" "00025233" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Tyr319Cys)" "" "0000288170" "00025233" "10" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Leu32=)" "" "0000288171" "00025233" "10" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Gln328=)" "" "0000349550" "00025233" "90" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Met)" "" "0000404713" "00025233" "70" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Ala66Thr)" "4" "0000404736" "00025233" "70" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "9" "0000553216" "00025233" "90" "2006" "0" "2009" "0" "c.2006_2009del" "r.(?)" "p.(His669ProfsTer19)" "" "0000553217" "00025233" "70" "1997" "0" "1997" "0" "c.1997T>C" "r.(?)" "p.(Ile666Thr)" "" "0000553218" "00025233" "10" "1834" "21" "1834" "22" "c.1834+21_1834+22dup" "r.(=)" "p.(=)" "" "0000553219" "00025233" "10" "1834" "22" "1834" "22" "c.1834+22dup" "r.(=)" "p.(=)" "" "0000553220" "00025233" "90" "1814" "0" "1814" "0" "c.1814dup" "r.(?)" "p.(Tyr605Ter)" "" "0000553221" "00025233" "10" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Phe596=)" "" "0000553222" "00025233" "30" "1731" "0" "1731" "0" "c.1731C>T" "r.(?)" "p.(Phe577=)" "" "0000553223" "00025233" "30" "1709" "0" "1709" "0" "c.1709C>G" "r.(?)" "p.(Thr570Ser)" "" "0000553224" "00025233" "30" "1670" "19" "1670" "19" "c.1670+19A>T" "r.(=)" "p.(=)" "" "0000553225" "00025233" "90" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Asp544Asn)" "" "0000553226" "00025233" "10" "1620" "0" "1620" "0" "c.1620=" "r.(=)" "p.(Thr540=)" "" "0000553227" "00025233" "10" "1620" "0" "1620" "0" "c.1620=" "r.(=)" "p.(Thr540=)" "" "0000553228" "00025233" "30" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "" "0000553229" "00025233" "10" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "" "0000553230" "00025233" "10" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Leu358=)" "" "0000553231" "00025233" "90" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Tyr319Cys)" "" "0000553232" "00025233" "50" "927" "0" "927" "0" "c.927A>C" "r.(?)" "p.(Leu309Phe)" "" "0000553233" "00025233" "30" "621" "15" "621" "15" "c.621+15A>G" "r.(=)" "p.(=)" "" "0000553234" "00025233" "70" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Gly181Asp)" "" "0000553235" "00025233" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Val175=)" "" "0000553236" "00025233" "30" "461" "0" "461" "0" "c.461C>A" "r.(?)" "p.(Pro154His)" "" "0000553237" "00025233" "30" "443" "-11" "443" "-11" "c.443-11T>G" "r.(=)" "p.(=)" "" "0000553238" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000553239" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000553240" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000553242" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000553244" "00025233" "30" "328" "6" "328" "6" "c.328+6A>G" "r.(=)" "p.(=)" "" "0000553245" "00025233" "70" "328" "1" "328" "1" "c.328+1G>T" "r.spl?" "p.?" "" "0000553246" "00025233" "30" "196" "-9" "196" "-9" "c.196-9T>C" "r.(=)" "p.(=)" "" "0000553247" "00025233" "30" "196" "-3" "196" "-3" "c.196-3dup" "r.spl?" "p.?" "" "0000553248" "00025233" "30" "195" "19" "195" "19" "c.195+19G>A" "r.(=)" "p.(=)" "" "0000553249" "00025233" "50" "158" "0" "158" "0" "c.158G>C" "r.(?)" "p.(Arg53Pro)" "" "0000553250" "00025233" "50" "65" "0" "65" "0" "c.65G>C" "r.(?)" "p.(Gly22Ala)" "" "0000553251" "00025233" "30" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Gly22Asp)" "" "0000553252" "00025233" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Ala20=)" "" "0000553253" "00025233" "30" "41" "0" "41" "0" "c.41C>G" "r.(?)" "p.(Ala14Gly)" "" "0000553254" "00025233" "30" "-285" "0" "-285" "0" "c.-285G>A" "r.(?)" "p.(=)" "" "0000553255" "00025233" "30" "-318" "0" "-318" "0" "c.-318T>C" "r.(?)" "p.(=)" "" "0000553256" "00025233" "30" "-327" "0" "-327" "0" "c.-327G>T" "r.(?)" "p.(=)" "" "0000553257" "00025233" "50" "-327" "0" "-327" "0" "c.-327G>T" "r.(?)" "p.(=)" "" "0000553258" "00025233" "30" "-327" "0" "-327" "0" "c.-327G>C" "r.(?)" "p.(=)" "" "0000615120" "00025233" "90" "1814" "0" "1814" "0" "c.1814dup" "r.(?)" "p.(Tyr605Ter)" "" "0000615121" "00025233" "30" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Val336Met)" "" "0000615122" "00025233" "50" "409" "0" "409" "0" "c.409G>T" "r.(?)" "p.(Ala137Ser)" "" "0000615123" "00025233" "30" "-275" "0" "-275" "0" "c.-275A>G" "r.(?)" "p.(=)" "" "0000648985" "00025233" "70" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000648986" "00025233" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Tyr319Cys)" "" "0000648988" "00025233" "70" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Gly286Asp)" "" "0000648989" "00025233" "30" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000648990" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000648991" "00025233" "30" "330" "0" "330" "0" "c.330C>T" "r.(=)" "p.(=)" "" "0000657503" "00025233" "90" "1592" "0" "1592" "0" "c.1592G>A" "r.(?)" "p.(Arg531His)" "" "0000669264" "00025233" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Tyr319Cys)" "" "0000669265" "00025233" "30" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000669266" "00025233" "30" "330" "0" "330" "0" "c.330C>T" "r.(=)" "p.(=)" "" "0000680067" "00025233" "30" "1752" "0" "1752" "0" "c.1752A>G" "r.(?)" "p.(Lys584=)" "" "0000680069" "00025233" "30" "1251" "0" "1251" "0" "c.1251T>C" "r.(?)" "p.(Phe417=)" "" "0000680070" "00025233" "90" "1110" "0" "1110" "0" "c.1110C>G" "r.(?)" "p.(Tyr370Ter)" "" "0000680071" "00025233" "30" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Ala20=)" "" "0000691727" "00025233" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Ala28Thr)" "" "0000724901" "00025233" "70" "1556" "0" "1556" "0" "c.1556del" "r.(?)" "p.(Asn519Ilefs*34)" "" "0000724902" "00025233" "30" "1272" "0" "1272" "0" "c.1272G>A" "r.(?)" "p.(Gln424=)" "" "0000724903" "00025233" "50" "165" "0" "165" "0" "c.165C>G" "r.(?)" "p.(Phe55Leu)" "" "0000759813" "00025233" "90" "1886" "0" "1886" "0" "c.1886G>C" "r.(?)" "p.(Trp629Ser)" "" "0000786866" "00025233" "50" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Tyr319Cys)" "9" "0000787098" "00025233" "90" "1162" "-1" "2089" "0" "c.(1161+1_1162-1)_(*31_?)del" "r.?" "p.?" "10i_17_" "0000787285" "00025233" "50" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ser259Leu)" "8" "0000787286" "00025233" "50" "1660" "0" "1660" "0" "c.1660G>C" "r.(?)" "p.(Asp554His)" "14" "0000787466" "00025233" "50" "1685" "0" "1685" "0" "c.1685T>A" "r.(?)" "p.(Ile562Lys)" "15" "0000787477" "00025233" "90" "1230" "0" "1230" "0" "c.1230del" "r.(?)" "p.(Phe411LeufsTer46)" "11" "0000806523" "00025233" "50" "1697" "0" "1697" "0" "c.1697T>G" "r.(?)" "p.(Val566Gly)" "" "0000806524" "00025233" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Gly333Arg)" "" "0000853904" "00025233" "50" "1819" "0" "1819" "0" "c.1819G>T" "r.(?)" "p.(Val607Phe)" "" "0000853905" "00025233" "50" "1615" "0" "1615" "0" "c.1615A>G" "r.(?)" "p.(Ile539Val)" "" "0000853906" "00025233" "30" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Thr529=)" "" "0000853907" "00025233" "30" "1251" "0" "1251" "0" "c.1251T>C" "r.(?)" "p.(Phe417=)" "" "0000853908" "00025233" "30" "753" "-5" "753" "-5" "c.753-5dup" "r.spl?" "p.?" "" "0000863700" "00025233" "30" "1865" "0" "1865" "0" "c.1865T>A" "r.(?)" "p.(Val622Asp)" "" "0000863701" "00025233" "30" "264" "10" "264" "10" "c.264+10A>G" "r.(=)" "p.(=)" "" "0000873166" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000873167" "00025233" "50" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000874656" "00025233" "70" "334" "0" "334" "0" "c.334A>G" "r.(?)" "p.(Thr112Ala)" "" "0000879973" "00025233" "70" "909" "-10" "909" "-10" "c.909-10A>G" "r.908_909ins909-9_909-1" "p.Ser303_Thr304insSerPheSer" "" "0000879981" "00025233" "70" "908" "5" "908" "5" "c.908+5G>A" "r.753_908del" "p.Ala252_Ser303del" "" "0000891915" "00025233" "90" "1700" "0" "1700" "0" "c.1700A>C" "r.(?)" "p.(Tyr567Ser)" "" "0000891916" "00025233" "30" "1272" "0" "1272" "0" "c.1272G>A" "r.(?)" "p.(Gln424=)" "" "0000891917" "00025233" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Thr18Ile)" "" "0000891918" "00025233" "30" "-318" "0" "-318" "0" "c.-318T>C" "r.(?)" "p.(=)" "" "0000906100" "00025233" "90" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Met)" "" "0000906158" "00025233" "90" "1700" "0" "1700" "0" "c.1700A>C" "r.(?)" "p.(Tyr567Ser)" "" "0000914225" "00025233" "50" "1991" "0" "1991" "0" "c.1991C>A" "r.(?)" "p.(Ala664Asp)" "" "0000914226" "00025233" "10" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Thr641Ala)" "" "0000914227" "00025233" "10" "1834" "5" "1834" "5" "c.1834+5C>G" "r.spl?" "p.?" "" "0000914228" "00025233" "10" "1698" "0" "1698" "0" "c.1698A>T" "r.(?)" "p.(Val566=)" "" "0000914229" "00025233" "10" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Ile562Thr)" "" "0000914230" "00025233" "10" "1671" "-15" "1671" "-15" "c.1671-15C>T" "r.(=)" "p.(=)" "" "0000914231" "00025233" "10" "1620" "0" "1620" "0" "c.1620=" "r.(=)" "p.(Thr540=)" "" "0000914232" "00025233" "10" "1350" "0" "1350" "0" "c.1350C>T" "r.(?)" "p.(Ser450=)" "" "0000914233" "00025233" "10" "1162" "-4" "1162" "-4" "c.1162-4del" "r.spl?" "p.?" "" "0000914234" "00025233" "10" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Gln328=)" "" "0000914235" "00025233" "90" "956" "0" "956" "0" "c.956A>G" "r.(?)" "p.(Tyr319Cys)" "" "0000914236" "00025233" "10" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Asp248Asn)" "" "0000914237" "00025233" "10" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000914238" "00025233" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asp110=)" "" "0000914239" "00025233" "10" "328" "19" "328" "19" "c.328+19T>A" "r.(=)" "p.(=)" "" "0000914240" "00025233" "30" "196" "-9" "196" "-9" "c.196-9T>C" "r.(=)" "p.(=)" "" "0000914241" "00025233" "10" "75" "0" "75" "0" "c.75C>A" "r.(?)" "p.(Gly25=)" "" "0000914242" "00025233" "10" "61" "0" "61" "0" "c.61G>C" "r.(?)" "p.(Ala21Pro)" "" "0000914243" "00025233" "10" "42" "0" "42" "0" "c.42G>C" "r.(?)" "p.(Ala14=)" "" "0000914244" "00025233" "10" "-287" "0" "-287" "0" "c.-287G>A" "r.(?)" "p.(=)" "" "0000925924" "00025233" "10" "1162" "-6183" "1162" "-6183" "c.1162-6183dup" "r.(=)" "p.(=)" "" "0000930345" "00025233" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000936012" "00025233" "90" "1901" "0" "1901" "0" "c.1901T>C" "r.(?)" "p.(Leu634Ser)" "" "0000950296" "00025233" "50" "1901" "0" "1901" "0" "c.1901T>C" "r.(?)" "p.(Leu634Ser)" "" "0000967597" "00025233" "30" "41" "0" "41" "0" "c.41C>G" "r.(?)" "p.(Ala14Gly)" "" "0000981044" "00025233" "50" "1898" "0" "1898" "0" "c.1898C>A" "r.(?)" "p.(Thr633Lys)" "" "0000981045" "00025233" "50" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Gly333Arg)" "" "0000981046" "00025233" "10" "913" "0" "913" "0" "c.913A>G" "r.(?)" "p.(Ile305Val)" "" "0000981047" "00025233" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "" "0000981048" "00025233" "10" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Cys)" "" "0000981049" "00025233" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Val175=)" "" "0001040136" "00025233" "50" "1709" "0" "1709" "0" "c.1709C>A" "r.(?)" "p.(Thr570Asn)" "" "0001040137" "00025233" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Asp110=)" "" "0001040138" "00025233" "30" "-327" "0" "-327" "0" "c.-327G>T" "r.(?)" "p.(=)" "" "0001046483" "00025233" "10" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Ile562Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000000006" "0000000436" "0000000015" "0000000428" "0000000022" "0000000433" "0000000028" "0000000435" "0000000030" "0000000427" "0000000049" "0000000426" "0000000051" "0000000431" "0000000053" "0000000437" "0000000054" "0000000429" "0000000062" "0000000434" "0000000067" "0000000425" "0000000088" "0000000430" "0000000089" "0000000432" "0000000091" "0000000438" "0000092381" "0000150684" "0000151004" "0000244160" "0000151004" "0000244161" "0000181077" "0000404713" "0000181077" "0000404736" "0000292296" "0000648985" "0000292297" "0000648986" "0000292299" "0000648988" "0000292300" "0000648989" "0000292301" "0000648990" "0000292302" "0000648991" "0000305576" "0000669264" "0000305577" "0000669265" "0000305578" "0000669266" "0000360114" "0000759813" "0000375480" "0000787466" "0000375514" "0000787477" "0000375515" "0000786866" "0000375747" "0000787098" "0000375934" "0000787285" "0000375935" "0000787286" "0000415335" "0000873166" "0000415336" "0000873167" "0000416528" "0000874656" "0000419806" "0000879973" "0000419806" "0000879981" "0000428375" "0000906100" "0000428375" "0000906158" "0000439883" "0000936012"