### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HPDL) # 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}}" "HPDL" "4-hydroxyphenylpyruvate dioxygenase-like" "1" "p34.1" "unknown" "NC_000001.10" "UD_136087599969" "" "https://www.LOVD.nl/HPDL" "" "1" "28242" "84842" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HPDL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-23 08:53:19" "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}}" "00009596" "HPDL" "4-hydroxyphenylpyruvate dioxygenase-like" "001" "NM_032756.2" "" "NP_116145.1" "" "" "" "-276" "1527" "1116" "45792545" "45794347" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05860" "SPG83" "paraplegia, spastic, type 83, autosomal recessive (SPG83)" "AR" "619027" "" "" "" "00006" "2020-10-23 08:52:54" "" "" "05861" "NEDSWMA;CPSQ1" "neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (CPSQ1)" "AR" "619026" "" "" "" "00006" "2020-10-23 08:54:34" "00006" "2023-12-06 12:38:41" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "HPDL" "00325" "HPDL" "05860" "HPDL" "05861" ## Individuals ## Do not remove or alter this header ## ## Count = 43 "{{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}}" "00306992" "" "" "" "2" "" "01864" "family, 2 affected" "" "M" "no" "China" "08y" "0" "yes" "" "chinese" "A.II-1" "00307009" "" "" "00306992" "1" "" "01864" "brother" "" "M" "no" "China" "" "0" "yes" "" "chinese" "A.II-2" "00307029" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "yes" "" "chinese" "B.II-2" "00307030" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "yes" "" "chinese" "C.II-1" "00307031" "" "" "" "2" "" "01864" "family, 2 affected" "" "F" "no" "China" "" "0" "yes" "" "chinese" "D.II-2" "00307032" "" "" "00307031" "1" "" "01864" "brother" "" "M" "no" "China" "" "0" "yes" "" "chinese" "D.II-3" "00307051" "" "" "" "2" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 2 affected brother/sister, unaffected heterozygous parents" "M" "" "Algeria" "" "0" "" "" "" "Fam1PatII1" "00307052" "" "" "00307051" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "sister" "F" "" "Algeria" "" "0" "" "" "" "Fam1PatII2" "00307053" "" "" "" "2" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Iran" "" "0" "" "" "" "Fam2PatII1" "00307054" "" "" "00307053" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "brother" "M" "yes" "Iran" "" "0" "" "" "" "Fam2PatII3" "00307055" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam3PatII3" "00307056" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Syria" "" "0" "" "" "" "Fam4PatII1" "00307057" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Canada" "" "0" "" "" "" "Fam5PatII2" "00307058" "" "" "" "2" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "" "Germany" "" "0" "" "" "" "Fam6PatII1" "00307059" "" "" "00307058" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "brother" "M" "" "Germany" "" "0" "" "" "" "Fam6PatII3" "00307060" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous mother, non-carrier father" "M" "" "Germany" "" "0" "" "" "" "Fam7PatII2" "00307061" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Germany" "" "0" "" "" "" "Fam8PatII1" "00307062" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Germany" "" "0" "" "" "" "Fam9PatII1" "00307063" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "" "Fam10PatII1" "00307064" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam11PatII1" "00307065" "" "" "" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "yes" "Syria" "" "0" "" "" "" "Fam12PatII3" "00307066" "" "" "" "2" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "brother" "M" "" "Turkey" "" "0" "" "" "" "Fam13PatII1" "00307067" "" "" "00307066" "1" "" "00006" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "2-generation family, 1 affected, unaffected parents" "M" "" "Turkey" "" "0" "" "" "" "Fam13PatII2" "00314744" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00314745" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00314746" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00314747" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00314748" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00314749" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00373536" "" "" "" "2" "" "01864" "" "" "M" "no" "China" "" "" "" "" "Chinese" "iw028" "00373800" "" "" "" "2" "" "01864" "" "" "M" "no" "China" "" "" "" "" "chinese" "iw031" "00383056" "" "" "" "2" "" "03830" "" "" "M" "no" "(Latvia)" "" "" "" "" "" "" "00394995" "" "" "" "1" "" "03830" "" "" "M" "?" "Canada" "" "" "" "" "" "" "00404665" "" "" "" "3" "" "00435" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00404666" "" "" "" "2" "" "00435" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00438282" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "273560" "00443905" "" "" "" "7" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "5-generation family, 7 affected (3F, 4M), unaffected heterozygous parents/relatives" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV1" "00443906" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV2" "00443907" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV5" "00443908" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "sister" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV7" "00443909" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "brother" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamA;FamPatV8" "00443910" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}" "nephew" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamPatV10" "00443911" "" "" "00443905" "1" "" "00006" "{PMID:Morgan 2021:33634263}" "niece" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "FamPatV11" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 43 "{{individualid}}" "{{diseaseid}}" "00306992" "00198" "00307009" "00198" "00307029" "00198" "00307030" "00198" "00307031" "00198" "00307032" "00198" "00307051" "05611" "00307052" "05611" "00307053" "05611" "00307054" "05611" "00307055" "05611" "00307056" "05611" "00307057" "05611" "00307058" "05611" "00307059" "05611" "00307060" "05611" "00307061" "05611" "00307062" "05611" "00307063" "05611" "00307064" "05611" "00307065" "05611" "00307066" "05611" "00307067" "05611" "00314744" "00198" "00314745" "00198" "00314746" "00198" "00314747" "00198" "00314748" "00198" "00314749" "00198" "00373536" "05861" "00373800" "05861" "00383056" "05861" "00394995" "00325" "00404665" "05860" "00404666" "05860" "00438282" "05861" "00443905" "00198" "00443906" "00198" "00443907" "00198" "00443908" "00198" "00443909" "00198" "00443910" "00198" "00443911" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00325, 05611, 05860, 05861 ## Count = 43 "{{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}}" "0000232810" "00198" "00306992" "01864" "Familial, autosomal recessive" "" "Feeding difficulty, Low weight, Strabismus, DD/ID, Hypertonia, Spasm, Encephalopathy, EEG abnormality, Increased urine alpha- ketoglutaric acid, Abnormal MRI" "00y00m02d" "" "" "" "" "" "" "" "HPDL deficiency disorder" "" "" "0000232833" "00198" "00307009" "01864" "Familial, autosomal recessive" "" "Feeding difficulty， Low weight， Strabismus， DD/ID， Hypertonia， Spasm， Encephalopathy， EEG abnormality， Increased serum lactate， Increased urine alpha- ketoglutaric acid， Abnormal MRI" "00y00m01d" "" "" "" "" "" "" "" "HPDL deficiency disorder" "" "" "0000232855" "00198" "00307029" "01864" "Familial, autosomal recessive" "" "Low weight， Strabismus， DD/ID， Hypertonia， Spasm， Encephalopathy， EEG abnormality， Increased serum lactate， Increased CSF lactate，Increased urine alpha- ketoglutaric acid， Abnormal MRI" "00y02m" "" "" "" "" "" "" "" "HPDL deficiency disorder" "" "" "0000232856" "00198" "00307030" "01864" "Familial, autosomal recessive" "" "Low weight， EMG abnormality，DD/ID， Hypertonia， Spasm， Encephalopathy， Increased serum lactate， Abnormal MRI" "00y01m" "" "" "" "" "" "" "" "HPDL deficiency disorder" "" "" "0000232857" "00198" "00307031" "01864" "Familial, autosomal recessive" "" "EMG abnormality， DD/ID， Hypertonia， Spasm， Increased serum lactate" "12y" "" "" "" "" "" "" "" "HPDL deficiency disorder" "" "" "0000232858" "00198" "00307032" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "HPDL deficiency disorder" "" "" "0000232875" "05611" "00307051" "00006" "Familial, autosomal recessive" "1d" "congenital form; delayed motor development; severe intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−5.3); seizures; spastic paraplegia (tetraparesis); visual disturbance; MRI pattern I suspected; normal nerve conduction" "8y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232876" "05611" "00307052" "00006" "Familial, autosomal recessive" "1d" "congenital form; delayed motor development; severe intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−5.0); seizures; spastic paraplegia (tetraparesis); visual disturbance; MRI pattern I suspected; normal nerve conduction" "7y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232877" "05611" "00307053" "00006" "Familial, autosomal recessive" "6m" "infantile form; delayed motor development; severe intellectual impairment; chronic progression; regression; no acute respiratory failure; microcephaly (SD−4.6); seizures; spastic paraplegia (tetraparesis); no visual disturbance; normal nerve conduction" "34y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232878" "05611" "00307054" "00006" "Familial, autosomal recessive" "2m" "infantile form; delayed motor development; severe intellectual impairment; chronic progression; regression; childhood twice no acute respiratory failure; microcephaly (SD−5.3); seizures; spastic paraplegia (tetraparesis); no visual disturbance; MRI pattern I suspected; normal nerve conduction" "21y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232879" "05611" "00307055" "00006" "Familial, autosomal recessive" "6m" "infantile form; delayed motor development; moderate intellectual impairment; chronic progression; regression; 11y-no acute respiratory failure; no microcephaly; seizures; spastic paraplegia; visual disturbance; MRI pattern II; lactate increase; normal nerve conduction; normal muscle histology" "11y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232880" "05611" "00307056" "00006" "Familial, autosomal recessive" "1y" "infantile form; delayed motor development; mild intellectual impairment; chronic progression; regression; 7y-no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; visual disturbance; MRI pattern II; lactate increase; severely reduced motor nerve conduction velocity, slightly reduced sensory nerve conduction velocity; abnormal variation in muscle fiber diameter" "10y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232881" "05611" "00307057" "00006" "Familial, autosomal recessive" "7d" "infantile form; delayed motor development; intellectual impairment; chronic progression; regression; no acute respiratory failure; no microcephaly; seizures; spastic paraplegia; visual disturbance" "22y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232882" "05611" "00307058" "00006" "Familial, autosomal recessive" "21d" "infantile form; delayed motor development; mild intellectual impairment; chronic progression; no regression; 3w-no acute respiratory failure; microcephaly (SD−3.3); seizures; spastic paraplegia; visual disturbance; MRI pattern I; reduced sensory nerve conduction velocity unilateral" "5y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232883" "05611" "00307059" "00006" "Familial, autosomal recessive" "42d" "infantile form; delayed motor development; chronic progression; no regression; 6w-no acute respiratory failure; microcephaly (SD−4.2); seizures; spastic paraplegia; visual disturbance; MRI pattern I; lactate increase; reduced sensory nerve conduction velocity; normal muscle histology" "1y7m" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232884" "05611" "00307060" "00006" "Familial, autosomal recessive" "42d" "infantile form; delayed motor development; severe intellectual impairment; no chronic progression; no regression; no acute respiratory failure; microcephaly (SD−2.5); seizures; spastic paraplegia; no visual disturbance; MRI pattern I; abnormal variation in muscle fiber diameter" "5y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232885" "05611" "00307061" "00006" "Familial, autosomal recessive" "5m" "infantile form; delayed motor development; mild intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−2.2); no seizures; spastic paraplegia; visual disturbance; MRI pattern I; no lactate increase; abnormal variation in muscle fiber diameter" "2y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232886" "05611" "00307062" "00006" "Familial, autosomal recessive" "5y" "infantile form; delayed motor development; mild intellectual impairment; chronic progression; regression; no acute respiratory failure; microcephaly (SD−2); no seizures; spastic paraplegia; no visual disturbance; MRI pattern III" "8y6m" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232887" "05611" "00307063" "00006" "Familial, autosomal recessive" "15y" "juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; no visual disturbance" "17y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232888" "05611" "00307064" "00006" "Familial, autosomal recessive" "15y" "juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no seizures; spastic paraplegia; no visual disturbance; MRI pattern III; normal nerve conduction" "20y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232889" "05611" "00307065" "00006" "Familial, autosomal recessive" "15y" "juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; no visual disturbance; MRI pattern III; normal nerve conduction" "19y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232890" "05611" "00307066" "00006" "Familial, autosomal recessive" "14y" "juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; visual disturbance; normal nerve conduction" "39y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000232891" "05611" "00307067" "00006" "Familial, autosomal recessive" "15y" "juvenile form; no delayed motor development; no intellectual impairment; chronic progression; no regression; no acute respiratory failure; no microcephaly; no seizures; spastic paraplegia; no visual disturbance" "33y" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000238543" "00198" "00314744" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000238544" "00198" "00314745" "01807" "Unknown" "" "Spasticity (HP:0001257); Global developmental delay (HP:0001263); Hepatomegaly (HP:0002240); Abnormality of vision (HP:0000504); Delayed speech and language development (HP:0000750); Intellectual disability, mild (HP:0001256); Obesity (HP:0001513); Urinary incontinence (HP:0000020); Strabismus (HP:0000486); Nystagmus (HP:0000639); Low levels of vitamin D (HP:0100512); Hyperthyroidism (HP:0000836); Vitamin B12 deficiency (HP:0100502)" "" "" "" "" "" "" "" "" "" "" "" "0000238545" "00198" "00314746" "01807" "Unknown" "" "Increased serum lactate (HP:0002151); Leukoencephalopathy (HP:0002352); Apnea (HP:0002104)" "" "" "" "" "" "" "" "" "" "" "" "0000238546" "00198" "00314747" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000238547" "00198" "00314748" "01807" "Unknown" "" "Spastic paraplegia (HP:0001258)" "" "" "" "" "" "" "" "" "" "" "" "0000238548" "00198" "00314749" "01807" "Unknown" "" "Muscular hypotonia (HP:0001252); Poor motor coordination (HP:0002275); Increased serum lactate (HP:0002151); Strabismus (HP:0000486); Abnormality of thalamus morphology (HP:0010663)" "" "" "" "" "" "" "" "" "" "" "" "0000268810" "05861" "00373536" "01864" "Familial, autosomal recessive" "" "HP:0002353; HP:0002539; HP:0002079; HP:0003155; HP:0012704; HP:0001263; HP:0001250; HP:0001276" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (OMIM 618994)" "" "" "0000269010" "05861" "00373800" "01864" "Familial, autosomal recessive" "" "HP:0002353; HP:0002539; HP:0002079; HP:0003155; HP:0012704; HP:0001263; HP:0001250; HP:0001276" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (OMIM 618994)" "" "" "0000276846" "05861" "00383056" "03830" "Familial, autosomal recessive" "11y" "" "00y" "11y" "" "" "" "" "" "" "Ataxia" "Spastic paraplegia" "" "0000288195" "00325" "00394995" "03830" "Familial, autosomal recessive" "" "Stature for age Short stature (<-2SD) Head circumference for age Microcephaly (<-3SD) Progressive microcephaly Proportionate short stature. High palate Retrognathia Epicanthus Micrognathia Metopic synostosis Seizures Dystonia Spasticity Quadrispasticity Irritability Encephalopathy Babinski sign Dysmyelinating leukodystrophy Diffuse white matter abnormalities EEG with persistent abnormal rhythmic activity Severe global developmental delay Elevated brain lactate level by MRS Delayed ability to stand Delayed ability to sit Grasp reflex Abnormal eating behavior" "" "" "" "" "" "" "" "" "HPDL infantile neurodegenerative disorder" "HSP" "" "0000297240" "05860" "00404665" "00435" "Familial, autosomal recessive" "17y" "22-y male with progressive weakness and spasticity of both lower limbs, lower limbs\' hyperreflexia, sustained clonus, intact abdominal reflex and Babinski sign. He intelligence was borderline/mild mental subnormality (IQ:70)." "14y" "" "" "" "" "" "" "" "SPG83" "HSP" "" "0000297241" "05860" "00404666" "00435" "Familial, autosomal recessive" "13y" "16-y female with progressive weakness and spastic paraparesis. she had hypertonia, hyperreflexia and sustained clonus in both lower limbs, intact abdominal reflex and bilateral Babinski sign. She had intact sensation and cognition." "10y" "" "" "" "" "" "" "" "SPG83" "HSP" "" "0000328186" "05861" "00438282" "01164" "Isolated (sporadic)" "15y" "Intellectual disability, Heterotropia, Seizure, Secondary microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000333169" "00198" "00443905" "00006" "Familial, autosomal recessive" "14y" "microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes; plantar response upgoing; bilateral congenital dislocation hips; fixed flexion deformities both knees; never walked independently, 2y6m-mobility with frame; 4y-wheelchair bound after surgery congenital hip dislocation; convergent squint" "1y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333170" "00198" "00443906" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., full-term normal delivery; severe learning disability; no epilepsy; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; equivocal plantar response; thoracolumbar scoliosis; fixed flexion deformities both knees, extension at hips; distal muscle wasting lower limbs; 2y6m-crawl, became wheelchair dependent" "6m" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333171" "00198" "00443907" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., severe learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; upper limb ataxia; increased lower limb reflexes/tone; plantar response upgoing; 2y-crawl" "1y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333172" "00198" "00443908" "00006" "Familial, autosomal recessive" "22y" "see paper; ..., full-term normal delivery; mild/moderate learning disability; no epilepsy; no microcephaly; predominantly lower limbs affected; increased lower limb reflexes/tone; plantar response upgoing; 22y-dysarthria, fixed flexion knees; upper and lower limb wasting; became wheelchair dependent; congenital convergent squint; normal nerve conduction studies, EMG normal, creatinine kinase normal" "1y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333173" "00198" "00443909" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., full-term normal delivery; no severe learning disability; no epilepsy; no microcephaly; severe ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; muscle wasting lower limbs; 2y6m-walk, 22y-partially wheelchair-bound; horizontal ophthalmoplegia, ERG substantially reduced responses on right, absent on left; normal CPK and lactate, amino acids (blood and urine), organic acids, ferritin and caeruloplasmin" "2y" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333174" "00198" "00443910" "00006" "Familial, autosomal recessive" "18y" "see paper; ...,p renatal growth retardation, LSCS for fetal distress; birth weight 5.5 lb; mild learning disability; mid-childhood increased falls; no epilepsy; predominantly lower limbs affected; upper limb ataxia; ataxic gait; increased lower limb reflexes/tone; plantar response upgoing; pes planus; poor muscle bulk; hypotonia changing to hypertonia later; weight gain; 1y6m-walk; facial hypotonia; 11y6m-frequent falling; no eye anomalies; normal nerve conduction studies, EMG normal, creatinine kinase normal" "" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" "0000333175" "00198" "00443911" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., normal delivery, birth weight 6.5 lb; mild/moderate learning disability; delayed walking; no epilepsy; 19y-OFC 53.4 cm; predominantly lower limbs affected; mild upper limb ataxia; ataxic gait; plantar response downgoing; short 4th/5th metacarpals (unilateral); mild hyper-telorism, relative small stature; flexed hips; late sitting; 2y6m-first steps, 10y-max mobility, 13y-detoriation; facial hypotonia; esotropia, nystagmus, jerk in horizontal plane and gaze-evoked upbeat in vertical plane, dysarthria, normal jaw jerk and upper limb co-ordination, normal optic discs;" "" "" "" "" "" "" "" "" "NEDSWMA" "spastic cerebral palsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 43 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000308129" "00306992" "1" "01864" "01864" "2020-07-27 08:56:14" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS" "0000308169" "00307009" "1" "01864" "01864" "2020-07-28 09:38:48" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WGS" "0000308170" "00307029" "1" "01864" "01864" "2020-07-28 10:01:10" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000308172" "00307031" "1" "01864" "01864" "2020-07-28 10:36:21" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000308173" "00307032" "1" "01864" "01864" "2020-07-28 10:48:43" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000308191" "00307051" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308192" "00307052" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308193" "00307053" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308194" "00307054" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308195" "00307055" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308196" "00307056" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308197" "00307057" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308198" "00307058" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308199" "00307059" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308200" "00307060" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308201" "00307061" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308202" "00307062" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308203" "00307063" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308204" "00307064" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308205" "00307065" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308206" "00307066" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308207" "00307067" "1" "00006" "00006" "2020-07-28 19:38:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000308210" "00307030" "1" "01864" "01864" "2020-07-29 03:00:56" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES" "0000315917" "00314744" "1" "01807" "01807" "2020-10-16 12:47:01" "" "" "SEQ" "DNA" "" "" "0000315918" "00314745" "1" "01807" "01807" "2020-10-16 12:48:01" "" "" "SEQ" "DNA" "" "" "0000315919" "00314746" "1" "01807" "01807" "2020-10-16 12:49:01" "" "" "SEQ" "DNA" "" "" "0000315920" "00314747" "1" "01807" "01807" "2020-10-16 12:50:01" "" "" "SEQ" "DNA" "" "" "0000315921" "00314748" "1" "01807" "01807" "2020-10-16 12:51:01" "" "" "SEQ" "DNA" "" "" "0000315922" "00314749" "1" "01807" "01807" "2020-10-16 12:52:01" "" "" "SEQ" "DNA" "" "" "0000374769" "00373536" "1" "01864" "01864" "2021-05-17 10:11:00" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375032" "00373800" "1" "01864" "01864" "2021-05-21 08:34:58" "01864" "2021-05-24 10:37:50" "SEQ-NG" "DNA" "blood" "WGS" "0000384280" "00383056" "1" "03830" "03830" "2021-09-21 18:05:04" "" "" "SEQ-NG" "DNA" "" "" "0000396241" "00394995" "1" "03830" "03830" "2021-12-03 13:08:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000405905" "00404665" "1" "00435" "00435" "2022-03-06 00:23:57" "" "" "SEQ" "DNA" "blood" "" "0000405906" "00404666" "1" "00435" "00435" "2022-03-06 00:34:21" "" "" "SEQ" "DNA" "blood" "" "0000439764" "00438282" "1" "01164" "01164" "2023-10-20 17:01:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000445402" "00443905" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445403" "00443906" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445404" "00443907" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445405" "00443908" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445406" "00443909" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445407" "00443910" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445408" "00443911" "1" "00006" "00006" "2023-12-06 12:32:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{geneid}}" "0000308191" "HPDL" "0000308192" "HPDL" "0000308193" "HPDL" "0000308194" "HPDL" "0000308195" "HPDL" "0000308196" "HPDL" "0000308197" "HPDL" "0000308198" "HPDL" "0000308199" "HPDL" "0000308200" "HPDL" "0000308201" "HPDL" "0000308202" "HPDL" "0000308203" "HPDL" "0000308204" "HPDL" "0000308205" "HPDL" "0000308206" "HPDL" "0000308207" "HPDL" "0000374769" "HPDL" "0000375032" "HPDL" "0000384280" "HPDL" "0000396241" "HPDL" "0000405905" "HPDL" "0000405906" "HPDL" "0000439764" "GABRA1" "0000439764" "HPDL" ## 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 = 276 "{{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}}" "0000255175" "0" "30" "1" "45796215" "45796215" "subst" "0" "01943" "MUTYH_000337" "g.45796215A>G" "" "" "" "MUTYH(NM_001128425.1):c.1491T>C (p.Y497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45330543A>G" "" "likely benign" "" "0000255672" "0" "90" "1" "45797534" "45797534" "subst" "0" "01943" "MUTYH_000101" "g.45797534A>C" "" "" "" "MUTYH(NM_001128425.1):c.998-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331862A>C" "" "pathogenic" "" "0000280180" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02330" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000280181" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "02330" "MUTYH_000064" "g.45797481C>T" "" "" "" "MUTYH(NM_001128425.2):c.1038G>A (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331809C>T" "" "likely pathogenic" "" "0000280182" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02330" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000280184" "0" "30" "1" "45797139" "45797139" "subst" "0.000792425" "02330" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331467G>A" "" "likely benign" "" "0000280185" "0" "30" "1" "45796899" "45796899" "subst" "0.00454804" "02330" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "likely benign" "" "0000280186" "0" "30" "1" "45795091" "45795091" "subst" "8.12348E-6" "02330" "MUTYH_000336" "g.45795091C>A" "" "" "" "MUTYH(NM_001128425.2):c.1537G>T (p.V513L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329419C>A" "" "likely benign" "" "0000280187" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "02330" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000280188" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02330" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000280189" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "02330" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333448C>T" "" "VUS" "" "0000280190" "0" "10" "1" "45799074" "45799074" "subst" "0.00166508" "02330" "MUTYH_000108" "g.45799074C>T" "" "" "" "MUTYH(NM_001048171.1):c.306+11G>A (p.(=)), MUTYH(NM_001128425.2):c.348+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333402C>T" "" "benign" "" "0000280191" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02330" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000280193" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02330" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000280194" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "02330" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332440G>A" "" "pathogenic" "" "0000280196" "0" "30" "1" "45798085" "45798085" "subst" "0" "02330" "MUTYH_000349" "g.45798085T>C" "" "" "" "MUTYH(NM_001128425.2):c.766A>G (p.T256A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332413T>C" "" "likely benign" "" "0000280197" "0" "30" "1" "45797890" "45797890" "subst" "4.87769E-5" "02330" "MUTYH_000348" "g.45797890C>T" "" "" "" "MUTYH(NM_001128425.2):c.881G>A (p.R294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332218C>T" "" "likely benign" "" "0000280198" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02330" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000282699" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02325" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000282700" "0" "90" "1" "45797374" "45797374" "del" "0" "02325" "MUTYH_000344" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000282701" "0" "30" "1" "45797324" "45797324" "subst" "0.000110063" "02325" "MUTYH_000238" "g.45797324T>A" "" "" "" "MUTYH(NM_001128425.2):c.1186+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331652T>A" "" "likely benign" "" "0000282702" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02325" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000282703" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02325" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000282704" "0" "30" "1" "45797165" "45797165" "subst" "2.03303E-5" "02325" "MUTYH_000340" "g.45797165C>T" "" "" "" "MUTYH(NM_001128425.2):c.1250G>A (p.R417H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331493C>T" "" "likely benign" "" "0000282705" "0" "10" "1" "45796883" "45796883" "subst" "0" "02325" "MUTYH_000338" "g.45796883T>G" "" "" "" "MUTYH(NM_001128425.2):c.1447A>C (p.T483P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331211T>G" "" "benign" "" "0000282706" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "02325" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000282707" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02325" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000282709" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "02325" "MUTYH_000225" "g.45798613C>G" "" "" "" "MUTYH(NM_001048171.1):c.439G>C (p.(Asp147His)), MUTYH(NM_001128425.2):c.481G>C (p.D161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332941C>G" "" "VUS" "" "0000282710" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02325" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000282712" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02325" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000283753" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02329" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000283754" "0" "30" "1" "45796937" "45796937" "subst" "6.90299E-5" "02329" "MUTYH_000339" "g.45796937G>C" "" "" "" "MUTYH(NM_001128425.2):c.1393C>G (p.P465A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331265G>C" "" "likely benign" "" "0000283755" "0" "10" "1" "45796899" "45796899" "subst" "0.00454804" "02329" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "benign" "" "0000283756" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "02329" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000283757" "0" "30" "1" "45795028" "45795028" "subst" "4.06062E-6" "02329" "MUTYH_000335" "g.45795028G>A" "" "" "" "MUTYH(NM_001128425.2):c.1600C>T (p.R534W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329356G>A" "" "likely benign" "" "0000283758" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02329" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000283759" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02329" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000283760" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02329" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000283761" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02329" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332215G>A" "" "pathogenic" "" "0000286716" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02326" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000292215" "0" "30" "1" "45797519" "45797519" "subst" "1.33412E-5" "01943" "MUTYH_000327" "g.45797519G>C" "" "" "" "MUTYH(NM_001048171.1):c.958C>G (p.(Pro320Ala)), MUTYH(NM_001128425.1):c.1000C>G (p.P334A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331847G>C" "" "likely benign" "" "0000292216" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "01943" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000292217" "0" "90" "1" "45797374" "45797374" "del" "0" "01943" "MUTYH_000069" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331702del" "" "pathogenic" "" "0000292218" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01943" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000292219" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01943" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000292221" "0" "50" "1" "45797174" "45797174" "subst" "0" "01943" "MUTYH_000079" "g.45797174T>C" "" "" "" "MUTYH(NM_001128425.1):c.1241A>G (p.Q414R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331502T>C" "" "VUS" "" "0000292222" "0" "10" "1" "45796899" "45796899" "subst" "0.00454804" "01943" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "benign" "" "0000292223" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "01943" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000292225" "0" "30" "1" "45799266" "45799266" "subst" "8.21241E-6" "01943" "MUTYH_000357" "g.45799266C>A" "" "" "" "MUTYH(NM_001128425.1):c.167G>T (p.G56V), MUTYH(NM_001128425.2):c.167G>T (p.G56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333594C>A" "" "likely benign" "" "0000292226" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "01943" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000292227" "0" "10" "1" "45798510" "45798510" "subst" "0.00123864" "01943" "MUTYH_000242" "g.45798510T>C" "" "" "" "MUTYH(NM_001128425.1):c.505-4A>G, MUTYH(NM_001128425.2):c.505-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332838T>C" "" "benign" "" "0000292228" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01943" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000292229" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "01943" "MUTYH_000045" "g.45798269T>C" "" "" "" "MUTYH(NM_001128425.1):c.667A>G (p.I223V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332597T>C" "" "VUS" "" "0000292230" "0" "10" "1" "45798225" "45798225" "subst" "0.00721521" "01943" "MUTYH_000070" "g.45798225G>T" "" "" "" "MUTYH(NM_001128425.1):c.690+21C>A, MUTYH(NM_001128425.2):c.690+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332553G>T" "" "benign" "" "0000292231" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "01943" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332440G>A" "" "pathogenic" "" "0000292233" "0" "50" "1" "45797548" "45797548" "subst" "0.00119508" "01943" "MUTYH_000137" "g.45797548C>T" "" "" "" "MUTYH(NM_001128425.1):c.998-27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331876C>T" "" "VUS" "" "0000320790" "0" "10" "1" "45795084" "45795084" "subst" "0.00839094" "01804" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "benign" "" "0000320791" "0" "50" "1" "45798115" "45798115" "subst" "5.70395E-5" "01804" "MUTYH_000053" "g.45798115C>A" "" "" "" "MUTYH(NM_001128425.1):c.736G>T (p.(Val246Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332443C>A" "" "VUS" "" "0000338128" "0" "10" "1" "45797255" "45797255" "subst" "0.0036991" "02327" "MUTYH_000104" "g.45797255G>A" "" "" "" "MUTYH(NM_001128425.2):c.1187-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331583G>A" "" "benign" "" "0000338129" "0" "30" "1" "45797548" "45797548" "subst" "0.00119508" "02327" "MUTYH_000137" "g.45797548C>T" "" "" "" "MUTYH(NM_001128425.1):c.998-27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331876C>T" "" "likely benign" "" "0000338130" "0" "30" "1" "45798232" "45798232" "subst" "6.5019E-5" "02327" "MUTYH_000013" "g.45798232G>C" "" "" "" "MUTYH(NM_001128425.2):c.690+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332560G>C" "" "likely benign" "" "0000338131" "0" "10" "1" "45798555" "45798555" "subst" "0.926147" "02327" "MUTYH_000010" "g.45798555T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332883T>C" "" "benign" "" "0000340114" "0" "30" "1" "45796899" "45796899" "subst" "0.00454804" "02327" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331227C>G" "" "likely benign" "" "0000340115" "0" "30" "1" "45798104" "45798104" "subst" "0" "02327" "MUTYH_000350" "g.45798104A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332432A>G" "" "likely benign" "" "0000340116" "0" "30" "1" "45798155" "45798155" "subst" "2.03533E-5" "02327" "MUTYH_000352" "g.45798155G>A" "" "" "" "MUTYH(NM_001128425.1):c.696C>T (p.T232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332483G>A" "" "likely benign" "" "0000340117" "0" "30" "1" "45799121" "45799121" "subst" "0.00142938" "02327" "MUTYH_000031" "g.45799121G>A" "" "" "" "MUTYH(NM_001128425.1):c.312C>T (p.Y104=), MUTYH(NM_001128425.2):c.312C>T (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333449G>A" "" "likely benign" "" "0000340775" "0" "30" "1" "45798778" "45798778" "subst" "4.06072E-6" "02327" "MUTYH_000355" "g.45798778T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333106T>C" "" "likely benign" "" "0000341281" "0" "50" "1" "45798257" "45798257" "subst" "3.65649E-5" "02327" "MUTYH_000353" "g.45798257C>T" "" "" "" "MUTYH(NM_001128425.2):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332585C>T" "" "VUS" "" "0000341282" "0" "50" "1" "45798256" "45798256" "subst" "0" "02327" "MUTYH_000185" "g.45798256G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332584G>A" "" "VUS" "" "0000341712" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "02327" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45333436G>A" "" "pathogenic" "" "0000342380" "0" "90" "1" "45798129" "45798129" "subst" "2.85074E-5" "02327" "MUTYH_000166" "g.45798129C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332457C>T" "" "pathogenic" "" "0000342600" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "02327" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332174G>A" "" "likely benign" "" "0000342879" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02327" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331467G>A" "" "VUS" "" "0000343057" "0" "30" "1" "45795061" "45795061" "subst" "8.1217E-5" "02327" "MUTYH_000215" "g.45795061G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329389G>A" "" "likely benign" "" "0000343945" "0" "70" "1" "45798613" "45798613" "subst" "8.56437E-5" "02327" "MUTYH_000225" "g.45798613C>G" "" "" "" "MUTYH(NM_001048171.1):c.439G>C (p.(Asp147His)), MUTYH(NM_001128425.2):c.481G>C (p.D161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332941C>G" "" "likely pathogenic" "" "0000344774" "0" "10" "1" "45797505" "45797505" "subst" "0.289123" "02327" "MUTYH_000063" "g.45797505C>G" "" "" "" "MUTYH(NM_001128425.1):c.1014G>C (p.Q338H), MUTYH(NM_001128425.2):c.1014G>C (p.Q338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331833C>G" "" "benign" "" "0000344811" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02327" "MUTYH_000072" "g.45797348G>A" "" "" "" "MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331676G>A" "" "pathogenic" "" "0000345452" "0" "90" "1" "45796895" "45796897" "del" "0" "02327" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000346052" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02327" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331556C>T" "" "pathogenic" "" "0000348433" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02327" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45331529G>A" "" "pathogenic" "" "0000349069" "0" "30" "1" "45795084" "45795084" "subst" "0.00839094" "02327" "MUTYH_000094" "g.45795084G>A" "" "" "" "MUTYH(NM_001048171.1):c.1502C>T (p.(Ser501Phe)), MUTYH(NM_001128425.1):c.1544C>T (p.S515F), MUTYH(NM_001128425.2):c.1544C>T (p.S515F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45329412G>A" "" "likely benign" "" "0000349958" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "02327" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332803T>C" "" "pathogenic" "" "0000351212" "0" "10" "1" "45796269" "45796269" "subst" "0.924515" "02327" "MUTYH_000106" "g.45796269G>C" "" "" "" "MUTYH(NM_001128425.1):c.1477-40C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45330597G>C" "" "benign" "" "0000351213" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02327" "MUTYH_000097" "g.45797835T>G" "" "" "" "MUTYH(NM_001128425.2):c.933+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45332163T>G" "" "pathogenic" "" "0000507640" "0" "10" "1" "45795027" "45795027" "subst" "0.00255411" "02330" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45329355C>T" "" "benign" "" "0000507641" "0" "50" "1" "45796865" "45796865" "subst" "3.65515E-5" "01804" "MUTYH_000059" "g.45796865C>T" "" "" "" "MUTYH(NM_001048171.1):c.1423G>A (p.(Ala475Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331193C>T" "" "VUS" "" "0000507642" "0" "10" "1" "45796881" "45796881" "subst" "0.00295618" "02330" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331209G>A" "" "benign" "" "0000507643" "0" "30" "1" "45796883" "45796883" "subst" "0" "02330" "MUTYH_000338" "g.45796883T>G" "" "" "" "MUTYH(NM_001128425.2):c.1447A>C (p.T483P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331211T>G" "" "likely benign" "" "0000507644" "0" "10" "1" "45797026" "45797026" "subst" "0.00012588" "02330" "HPDL_000001" "g.45797026G>A" "" "" "" "MUTYH(NM_001128425.2):c.1324-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331354G>A" "" "benign" "" "0000507645" "0" "30" "1" "45797105" "45797105" "subst" "4.062E-6" "02330" "MUTYH_000150" "g.45797105C>T" "" "" "" "MUTYH(NM_001128425.2):c.1310G>A (p.R437Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331433C>T" "" "likely benign" "" "0000507646" "0" "30" "1" "45797157" "45797157" "subst" "0.000573124" "02330" "MUTYH_000141" "g.45797157G>T" "" "" "" "MUTYH(NM_001128425.2):c.1258C>A (p.L420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331485G>T" "" "likely benign" "" "0000507647" "0" "90" "1" "45797188" "45797189" "dup" "0" "02330" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000507648" "0" "90" "1" "45797188" "45797189" "dup" "0" "01943" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331516_45331517dup" "" "pathogenic" "" "0000507649" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "01804" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331529G>A" "" "pathogenic" "" "0000507650" "0" "90" "1" "45797201" "45797201" "subst" "7.32965E-5" "02329" "MUTYH_000077" "g.45797201G>A" "" "" "" "MUTYH(NM_001048171.1):c.1172C>T (p.(Pro391Leu)), MUTYH(NM_001128425.1):c.1214C>T (p.P405L), MUTYH(NM_001128425.2):c.1214C>T (p.P405L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331529G>A" "" "pathogenic" "" "0000507651" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "01804" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331556C>T" "" "pathogenic" "" "0000507652" "0" "90" "1" "45797374" "45797374" "del" "0" "02330" "MUTYH_000344" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331702del" "" "pathogenic" "" "0000507653" "0" "50" "1" "45797506" "45797506" "subst" "0.00014449" "01804" "MUTYH_000044" "g.45797506T>C" "" "" "" "MUTYH(NM_001128425.1):c.1013A>G (p.(Gln338Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331834T>C" "" "VUS" "" "0000507654" "0" "70" "1" "45797695" "45797695" "subst" "0" "01804" "HPDL_000002" "g.45797695C>G" "" "" "" "MUTYH(NM_001128425.1):c.997G>C (p.(Ala333Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332023C>G" "" "likely pathogenic" "" "0000507656" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "02330" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332174G>A" "" "likely benign" "" "0000507657" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "02325" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332174G>A" "" "VUS" "" "0000507658" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "02329" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332174G>A" "" "likely benign" "" "0000507659" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02327" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332215G>A" "" "pathogenic" "" "0000507660" "0" "30" "1" "45797890" "45797890" "subst" "4.87769E-5" "02327" "MUTYH_000348" "g.45797890C>T" "" "" "" "MUTYH(NM_001128425.2):c.881G>A (p.R294H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332218C>T" "" "likely benign" "" "0000507661" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "02327" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332440G>A" "" "pathogenic" "" "0000507662" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02327" "MUTYH_000051" "g.45798117C>T" "" "" "" "MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332445C>T" "" "pathogenic" "" "0000507663" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02330" "MUTYH_000050" "g.45798130G>A" "" "" "" "MUTYH(NM_001128425.1):c.721C>T (p.(Arg241Trp)), MUTYH(NM_001128425.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332458G>A" "" "pathogenic" "" "0000507664" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "02327" "MUTYH_000050" "g.45798130G>A" "" "" "" "MUTYH(NM_001128425.1):c.721C>T (p.(Arg241Trp)), MUTYH(NM_001128425.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332458G>A" "" "pathogenic" "" "0000507665" "0" "50" "1" "45798287" "45798287" "subst" "4.87393E-5" "02330" "HPDL_000003" "g.45798287G>A" "" "" "" "MUTYH(NM_001128425.2):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332615G>A" "" "VUS" "" "0000507666" "0" "50" "1" "45798287" "45798287" "subst" "4.87393E-5" "02327" "HPDL_000003" "g.45798287G>A" "" "" "" "MUTYH(NM_001128425.2):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332615G>A" "" "VUS" "" "0000507667" "0" "70" "1" "45798328" "45798328" "subst" "2.03039E-5" "02330" "HPDL_000004" "g.45798328C>G" "" "" "" "MUTYH(NM_001128425.2):c.608G>C (p.R203P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332656C>G" "" "likely pathogenic" "" "0000507668" "0" "90" "1" "45798466" "45798466" "subst" "8.12123E-6" "02330" "MUTYH_000041" "g.45798466C>T" "" "" "" "MUTYH(NM_001128425.2):c.545G>A (p.R182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332794C>T" "" "pathogenic" "" "0000507669" "0" "90" "1" "45798475" "45798475" "subst" "0.00148617" "01804" "MUTYH_000012" "g.45798475T>C" "" "" "" "MUTYH(NM_001048171.1):c.494A>G (p.(Tyr165Cys)), MUTYH(NM_001128425.1):c.536A>G (p.Y179C), MUTYH(NM_001128425.2):c.536A>G (p.Y179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332803T>C" "" "pathogenic" "" "0000507670" "0" "10" "1" "45798510" "45798510" "subst" "0.00123864" "02329" "MUTYH_000242" "g.45798510T>C" "" "" "" "MUTYH(NM_001128425.1):c.505-4A>G, MUTYH(NM_001128425.2):c.505-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332838T>C" "" "benign" "" "0000507671" "0" "30" "1" "45798781" "45798781" "subst" "7.71567E-5" "02330" "MUTYH_000260" "g.45798781G>A" "" "" "" "MUTYH(NM_001128425.1):c.450C>T (p.T150=), MUTYH(NM_001128425.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333109G>A" "" "likely benign" "" "0000507672" "0" "30" "1" "45798781" "45798781" "subst" "7.71567E-5" "01943" "MUTYH_000260" "g.45798781G>A" "" "" "" "MUTYH(NM_001128425.1):c.450C>T (p.T150=), MUTYH(NM_001128425.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333109G>A" "" "likely benign" "" "0000507673" "0" "50" "1" "45798848" "45798848" "subst" "3.65601E-5" "01804" "HPDL_000005" "g.45798848G>A" "" "" "" "MUTYH(NM_001048171.1):c.347-6C>T (p.(=)), MUTYH(NM_001128425.2):c.389-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333176G>A" "" "VUS" "" "0000507674" "0" "30" "1" "45798854" "45798854" "subst" "0" "02330" "HPDL_000006" "g.45798854G>A" "" "" "" "MUTYH(NM_001128425.2):c.389-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333182G>A" "" "likely benign" "" "0000507675" "0" "30" "1" "45798901" "45798901" "subst" "0" "02327" "MUTYH_000009" "g.45798901C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333229C>T" "" "likely benign" "" "0000507676" "0" "90" "1" "45798993" "45798993" "subst" "0" "02327" "HPDL_000007" "g.45798993C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333321C>A" "" "pathogenic" "" "0000507677" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "02330" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333436G>A" "" "pathogenic" "" "0000507678" "0" "50" "1" "45799108" "45799108" "subst" "3.65473E-5" "01943" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333436G>A" "" "VUS" "" "0000507679" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "02327" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333448C>T" "" "VUS" "" "0000507680" "0" "90" "1" "45799121" "45799121" "subst" "0.000121822" "02327" "MUTYH_000032" "g.45799121G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333449G>T" "" "pathogenic" "" "0000507681" "0" "50" "1" "45799197" "45799197" "subst" "0" "02327" "HPDL_000008" "g.45799197G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333525G>T" "" "VUS" "" "0000507682" "0" "30" "1" "45799211" "45799211" "subst" "4.06227E-6" "02330" "HPDL_000009" "g.45799211C>T" "" "" "" "MUTYH(NM_001128425.2):c.222G>A (p.E74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333539C>T" "" "likely benign" "" "0000605798" "0" "10" "1" "45795027" "45795027" "subst" "0.00255411" "02329" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45329355C>T" "" "benign" "" "0000605799" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "02325" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332440G>A" "" "pathogenic" "" "0000605800" "0" "50" "1" "45798293" "45798293" "subst" "0" "02325" "HPDL_000010" "g.45798293C>A" "" "" "" "MUTYH(NM_001128425.2):c.643G>T (p.V215L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332621C>A" "" "VUS" "" "0000605801" "0" "50" "1" "45798613" "45798613" "subst" "8.56437E-5" "01804" "MUTYH_000225" "g.45798613C>G" "" "" "" "MUTYH(NM_001048171.1):c.439G>C (p.(Asp147His)), MUTYH(NM_001128425.2):c.481G>C (p.D161H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332941C>G" "" "VUS" "" "0000605802" "0" "90" "1" "45798843" "45798843" "subst" "0" "02327" "MUTYH_000110" "g.45798843C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333171C>T" "" "pathogenic" "" "0000605803" "0" "30" "1" "45798848" "45798848" "subst" "3.65601E-5" "02330" "HPDL_000005" "g.45798848G>A" "" "" "" "MUTYH(NM_001048171.1):c.347-6C>T (p.(=)), MUTYH(NM_001128425.2):c.389-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333176G>A" "" "likely benign" "" "0000605804" "0" "30" "1" "45799266" "45799266" "subst" "8.21241E-6" "02327" "MUTYH_000357" "g.45799266C>A" "" "" "" "MUTYH(NM_001128425.1):c.167G>T (p.G56V), MUTYH(NM_001128425.2):c.167G>T (p.G56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45333594C>A" "" "likely benign" "" "0000620651" "0" "70" "1" "45798461" "45798461" "subst" "1.21818E-5" "02330" "MUTYH_000035" "g.45798461G>A" "" "" "" "MUTYH(NM_001128425.2):c.550C>T (p.R184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45332789G>A" "" "likely pathogenic" "" "0000654050" "0" "30" "1" "45795081" "45795081" "subst" "0" "02330" "HPDL_000011" "g.45795081G>T" "" "" "" "MUTYH(NM_001128425.2):c.1547C>A (p.P516Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45329409G>T" "" "likely benign" "" "0000654051" "0" "90" "1" "45796895" "45796897" "del" "0" "02330" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331223_45331225del" "" "pathogenic" "" "0000654052" "0" "50" "1" "45796937" "45796937" "subst" "6.90299E-5" "02325" "MUTYH_000339" "g.45796937G>C" "" "" "" "MUTYH(NM_001128425.2):c.1393C>G (p.P465A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331265G>C" "" "VUS" "" "0000654053" "0" "30" "1" "45797324" "45797324" "subst" "0.000110063" "02330" "MUTYH_000238" "g.45797324T>A" "" "" "" "MUTYH(NM_001128425.2):c.1186+9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331652T>A" "" "likely benign" "" "0000654054" "0" "30" "1" "45797515" "45797515" "subst" "0" "02330" "HPDL_000012" "g.45797515T>C" "" "" "" "MUTYH(NM_001128425.2):c.1004A>G (p.N335S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45331843T>C" "" "likely benign" "" "0000674969" "11" "90" "1" "45793416" "45793419" "delins" "0" "01864" "HPDL_000022" "g.45793416_45793419delinsCAGGTCAGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327744_45327747delinsCAGGTCAGGAT" "" "pathogenic (recessive)" "" "0000674972" "21" "90" "1" "45793035" "45793046" "delins" "0" "01864" "HPDL_000021" "g.45793035_45793046delinsTGTACGGCCTGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327363_45327374delinsTGTACGGCCTGGAT" "" "pathogenic (recessive)" "" "0000675010" "11" "90" "1" "45793416" "45793419" "delins" "0" "01864" "HPDL_000022" "g.45793416_45793419delinsCAGGTCAGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327744_45327747delinsCAGGTCAGGAT" "" "pathogenic (recessive)" "" "0000675011" "21" "90" "1" "45793035" "45793046" "delins" "0" "01864" "HPDL_000021" "g.45793035_45793046delinsTGTACGGCCTGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327363_45327374delinsTGTACGGCCTGGAT" "" "pathogenic (recessive)" "" "0000675012" "11" "90" "1" "45793887" "45793891" "del" "0" "01864" "HPDL_000024" "g.45793887_45793891del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45328215_45328219del" "" "pathogenic (recessive)" "" "0000675013" "21" "90" "1" "45792951" "45792951" "subst" "0" "01864" "HPDL_000023" "g.45792951A>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327279A>T" "" "pathogenic (recessive)" "" "0000675016" "11" "90" "1" "45793601" "45793601" "subst" "0" "01864" "HPDL_000019" "g.45793601C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327929C>G" "" "pathogenic (recessive)" "" "0000675017" "21" "90" "1" "45793541" "45793541" "subst" "0" "01864" "HPDL_000018" "g.45793541C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327869C>T" "" "pathogenic (recessive)" "" "0000675018" "11" "90" "1" "45793601" "45793601" "subst" "0" "01864" "HPDL_000019" "g.45793601C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327929C>G" "" "pathogenic (recessive)" "" "0000675019" "21" "90" "1" "45793541" "45793541" "subst" "0" "01864" "HPDL_000018" "g.45793541C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327869C>T" "" "pathogenic (recessive)" "" "0000675042" "3" "90" "1" "45793162" "45793163" "ins" "0" "00006" "HPDL_000027" "g.45793162_45793163insTGCC" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327490_45327491insTGCC" "" "pathogenic (recessive)" "" "0000675043" "3" "90" "1" "45793162" "45793163" "ins" "0" "00006" "HPDL_000027" "g.45793162_45793163insTGCC" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327490_45327491insTGCC" "" "pathogenic (recessive)" "" "0000675044" "3" "90" "1" "45793599" "45793599" "subst" "4.61762E-6" "00006" "HPDL_000032" "g.45793599G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327927G>A" "" "pathogenic (recessive)" "" "0000675045" "3" "90" "1" "45793599" "45793599" "subst" "4.61762E-6" "00006" "HPDL_000032" "g.45793599G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327927G>A" "" "pathogenic (recessive)" "" "0000675046" "3" "90" "1" "45793541" "45793541" "subst" "0" "00006" "HPDL_000018" "g.45793541C>T" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327869C>T" "" "pathogenic (recessive)" "" "0000675047" "3" "90" "1" "45793844" "45793844" "subst" "0" "00006" "HPDL_000033" "g.45793844C>T" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45328172C>T" "" "pathogenic (recessive)" "" "0000675048" "1" "90" "1" "45793470" "45793470" "subst" "0" "00006" "HPDL_000020" "g.45793470T>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327798T>C" "" "pathogenic (recessive)" "" "0000675049" "21" "90" "1" "45793323" "45793323" "subst" "0" "00006" "HPDL_000029" "g.45793323G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327651G>A" "" "pathogenic (recessive)" "" "0000675050" "21" "90" "1" "45793323" "45793323" "subst" "0" "00006" "HPDL_000029" "g.45793323G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327651G>A" "" "pathogenic (recessive)" "" "0000675051" "21" "90" "1" "45793521" "45793521" "subst" "5.1443E-6" "00006" "HPDL_000031" "g.45793521T>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327849T>C" "" "pathogenic (recessive)" "" "0000675052" "21" "90" "1" "45793289" "45793289" "subst" "4.68516E-5" "00006" "HPDL_000028" "g.45793289T>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327617T>C" "" "pathogenic (recessive)" "" "0000675053" "3" "90" "1" "45793518" "45793519" "ins" "0" "00006" "HPDL_000030" "g.45793518_45793519insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327846_45327847insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC" "" "pathogenic (recessive)" "" "0000675054" "1" "90" "1" "45793100" "45793100" "del" "0" "00006" "HPDL_000026" "g.45793100del" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327428del" "" "pathogenic (recessive)" "" "0000675055" "3" "90" "1" "45792969" "45792969" "subst" "0" "00006" "HPDL_000025" "g.45792969G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327297G>A" "" "pathogenic (recessive)" "" "0000675056" "3" "90" "1" "45792969" "45792969" "subst" "0" "00006" "HPDL_000025" "g.45792969G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327297G>A" "" "pathogenic (recessive)" "" "0000675057" "3" "90" "1" "45792969" "45792969" "subst" "0" "00006" "HPDL_000025" "g.45792969G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "SCV001134979.1" "g.45327297G>A" "" "pathogenic (recessive)" "" "0000675058" "3" "90" "1" "45792969" "45792969" "subst" "0" "00006" "HPDL_000025" "g.45792969G>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "yes" "" "0" "" "SCV000589765.2" "g.45327297G>A" "" "pathogenic (recessive)" "" "0000675059" "2" "90" "1" "45793617" "45793617" "subst" "4.35021E-6" "00006" "HPDL_000013" "g.45793617T>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327945T>C" "" "pathogenic (recessive)" "" "0000675060" "11" "90" "1" "45793357" "45793357" "subst" "0" "00006" "HPDL_000014" "g.45793357G>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327685G>C" "" "pathogenic (recessive)" "" "0000675062" "11" "90" "1" "45793357" "45793357" "subst" "0" "00006" "HPDL_000014" "g.45793357G>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327685G>C" "" "pathogenic (recessive)" "" "0000675063" "10" "90" "1" "45793563" "45793563" "subst" "0" "00006" "HPDL_000015" "g.45793563T>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "De novo" "" "" "0" "" "" "g.45327891T>C" "" "pathogenic (recessive)" "" "0000675064" "11" "90" "1" "45793573" "45793573" "subst" "0" "00006" "HPDL_000016" "g.45793573C>A" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45327901C>A" "" "pathogenic (recessive)" "" "0000675065" "2" "90" "1" "45793679" "45793679" "subst" "7.7254E-5" "00006" "HPDL_000017" "g.45793679T>C" "" "{PMID:Husain 2020:32707086}, {DOI:Husain 2020:10.1016/j.ajhg.2020.06.015}" "" "" "" "Germline" "" "" "0" "" "" "g.45328007T>C" "" "pathogenic (recessive)" "" "0000675067" "3" "90" "1" "45793470" "45793470" "subst" "0" "01864" "HPDL_000020" "g.45793470T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327798T>C" "" "pathogenic (recessive)" "" "0000675873" "0" "30" "1" "45795043" "45795043" "subst" "0.00341909" "01804" "MUTYH_000177" "g.45795043G>T" "" "" "" "MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675874" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "01804" "MUTYH_000072" "g.45797348G>A" "" "" "" "MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675875" "0" "70" "1" "45798457" "45798457" "subst" "8.1211E-6" "02327" "MUTYH_000183" "g.45798457C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688187" "0" "30" "1" "45796241" "45796241" "subst" "0" "02327" "HPDL_000034" "g.45796241G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688188" "0" "10" "1" "45796881" "45796881" "subst" "0.00295618" "02326" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688189" "0" "90" "1" "45796895" "45796897" "del" "0" "02325" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688190" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02325" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688191" "0" "90" "1" "45797374" "45797374" "del" "0" "01804" "MUTYH_000069" "g.45797374del" "" "" "" "MUTYH(NM_001128425.1):c.1147del (p.(Ala385Profs*23)), MUTYH(NM_001128425.1):c.1147delC (p.A385Pfs*23), MUTYH(NM_001128425.2):c.1147delC (p.A385Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000698022" "3" "90" "1" "45793485" "45793486" "ins" "4.55328E-6" "01807" "HPDL_000030" "g.45793485_45793486insCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTCTGGGC" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698023" "3" "90" "1" "45793844" "45793844" "subst" "0" "01807" "HPDL_000033" "g.45793844C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698024" "0" "90" "1" "45793323" "45793323" "subst" "0" "01807" "HPDL_000029" "g.45793323G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698025" "0" "90" "1" "45793357" "45793357" "subst" "0" "01807" "HPDL_000014" "g.45793357G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698026" "3" "90" "1" "45792969" "45792969" "subst" "0" "01807" "HPDL_000025" "g.45792969G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698027" "3" "90" "1" "45792969" "45792969" "subst" "0" "01807" "HPDL_000025" "g.45792969G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698028" "0" "90" "1" "45793289" "45793289" "subst" "4.68516E-5" "01807" "HPDL_000028" "g.45793289T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000698029" "0" "90" "1" "45793573" "45793573" "subst" "0" "01807" "HPDL_000016" "g.45793573C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000717524" "0" "30" "1" "45796899" "45796899" "subst" "0.00454804" "01804" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717525" "0" "30" "1" "45797846" "45797846" "subst" "0.000455003" "01943" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717526" "0" "50" "1" "45797891" "45797891" "subst" "2.84574E-5" "02330" "HPDL_000035" "g.45797891G>A" "" "" "" "MUTYH(NM_001128425.2):c.880C>T (p.R294C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717527" "0" "70" "1" "45797924" "45797924" "subst" "4.06964E-6" "02327" "MUTYH_000017" "g.45797924T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717528" "0" "70" "1" "45797951" "45797951" "subst" "8.16247E-6" "02330" "MUTYH_000054" "g.45797951G>A" "" "" "" "MUTYH(NM_001128425.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717529" "0" "90" "1" "45797969" "45797969" "subst" "0" "02327" "HPDL_000036" "g.45797969G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717530" "0" "50" "1" "45798269" "45798269" "subst" "0.000215279" "02327" "MUTYH_000045" "g.45798269T>C" "" "" "" "MUTYH(NM_001128425.1):c.667A>G (p.I223V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717531" "0" "30" "1" "45799086" "45799086" "subst" "6.09132E-5" "02327" "HPDL_000037" "g.45799086C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717532" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "01943" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717533" "0" "50" "1" "45799266" "45799266" "subst" "2.87434E-5" "01943" "HPDL_000038" "g.45799266C>T" "" "" "" "MUTYH(NM_001128425.1):c.167G>A (p.G56E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000785615" "11" "90" "1" "45793416" "45793419" "delins" "0" "01864" "HPDL_000040" "g.45793416_45793419delinsCAGGTGAGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327744_45327747delinsCAGGTGAGGAT" "" "pathogenic (recessive)" "ACMG" "0000785701" "21" "90" "1" "45793035" "45793046" "delins" "0" "01864" "HPDL_000039" "g.45793035_45793046delinsTGTACGGCCTGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327363_45327374delinsTGTACGGCCTGGAT" "" "pathogenic (recessive)" "ACMG" "0000786040" "21" "90" "1" "45793035" "45793046" "delins" "0" "01864" "HPDL_000021" "g.45793035_45793046delinsTGTACGGCCTGGAT" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.45327363_45327374delinsTGTACGGCCTGGAT" "" "pathogenic (recessive)" "ACMG" "0000786041" "11" "90" "1" "45793416" "45793419" "delins" "0" "01864" "HPDL_000040" "g.45793416_45793419delinsCAGGTGAGGAT" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.45327744_45327747delinsCAGGTGAGGAT" "" "pathogenic (recessive)" "ACMG" "0000799391" "0" "10" "1" "45796881" "45796881" "subst" "0.00295618" "02369" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799392" "0" "50" "1" "45797133" "45797133" "subst" "0" "02327" "MUTYH_000415" "g.45797133C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799393" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02369" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799394" "0" "50" "1" "45797464" "45797464" "subst" "8.24198E-6" "01804" "MUTYH_000446" "g.45797464G>A" "" "" "" "MUTYH(NM_001048171.1):c.1013C>T (p.(Thr338Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799395" "0" "30" "1" "45798155" "45798155" "subst" "2.03533E-5" "02369" "MUTYH_000352" "g.45798155G>A" "" "" "" "MUTYH(NM_001128425.1):c.696C>T (p.T232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799396" "0" "50" "1" "45798257" "45798257" "subst" "3.65649E-5" "02330" "MUTYH_000353" "g.45798257C>T" "" "" "" "MUTYH(NM_001128425.2):c.679G>A (p.A227T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799397" "0" "10" "1" "45799074" "45799074" "subst" "0.00166508" "01804" "MUTYH_000108" "g.45799074C>T" "" "" "" "MUTYH(NM_001048171.1):c.306+11G>A (p.(=)), MUTYH(NM_001128425.2):c.348+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799398" "0" "30" "1" "45799266" "45799266" "subst" "8.21241E-6" "02330" "MUTYH_000357" "g.45799266C>A" "" "" "" "MUTYH(NM_001128425.1):c.167G>T (p.G56V), MUTYH(NM_001128425.2):c.167G>T (p.G56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810848" "3" "90" "1" "45793419" "45793419" "del" "8.19558E-6" "03830" "HPDL_000041" "g.45793419del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45327747del" "" "pathogenic" "ACMG" "0000827810" "3" "70" "1" "45793833" "45793833" "subst" "2.43635E-5" "03830" "HPDL_000042" "g.45793833T>C" "0.0000667" "" "" "" "" "Germline" "yes" "rs145372387" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000842066" "3" "90" "1" "45792969" "45792969" "subst" "0" "00435" "HPDL_000025" "g.45792969G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000842067" "3" "90" "1" "45792969" "45792969" "subst" "0" "00435" "HPDL_000025" "g.45792969G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic (recessive)" "" "0000848751" "0" "90" "1" "45798130" "45798130" "subst" "6.92447E-5" "01804" "MUTYH_000050" "g.45798130G>A" "" "" "" "MUTYH(NM_001128425.1):c.721C>T (p.(Arg241Trp)), MUTYH(NM_001128425.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857511" "0" "30" "1" "45795027" "45795027" "subst" "0.00255411" "01804" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857512" "0" "90" "1" "45797188" "45797189" "dup" "0" "01804" "MUTYH_000078" "g.45797188_45797189dup" "" "" "" "MUTYH(NM_001048171.1):c.1185_1186dup (p.(Glu396Glyfs*43)), MUTYH(NM_001128425.1):c.1227_1228dupGG (p.E410Gfs*43), MUTYH(NM_001128425.2):c.1227_1228..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857513" "0" "50" "1" "45797519" "45797519" "subst" "1.33412E-5" "01804" "MUTYH_000327" "g.45797519G>C" "" "" "" "MUTYH(NM_001048171.1):c.958C>G (p.(Pro320Ala)), MUTYH(NM_001128425.1):c.1000C>G (p.P334A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857514" "0" "50" "1" "45797846" "45797846" "subst" "0.000455003" "01804" "MUTYH_000019" "g.45797846G>A" "" "" "" "MUTYH(NM_001048171.1):c.883C>T (p.(Arg295Cys)), MUTYH(NM_001128425.1):c.925C>T (p.R309C), MUTYH(NM_001128425.2):c.925C>T (p.R309C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883470" "0" "30" "1" "45797114" "45797114" "subst" "4.0622E-5" "02330" "MUTYH_000223" "g.45797114G>A" "" "" "" "MUTYH(NM_001128425.2):c.1301C>T (p.T434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883471" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "02329" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883472" "0" "50" "1" "45797157" "45797157" "subst" "0.000573124" "02325" "MUTYH_000141" "g.45797157G>T" "" "" "" "MUTYH(NM_001128425.2):c.1258C>A (p.L420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883473" "0" "90" "1" "45797228" "45797228" "subst" "0.00295752" "02326" "MUTYH_000075" "g.45797228C>T" "" "" "" "MUTYH(NM_001048171.1):c.1145G>A (p.(Gly382Asp)), MUTYH(NM_001128425.1):c.1187G>A (p.G396D), MUTYH(NM_001128425.2):c.1187G>A (p.G396D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883474" "0" "90" "1" "45797348" "45797348" "subst" "1.62882E-5" "02325" "MUTYH_000072" "g.45797348G>A" "" "" "" "MUTYH(NM_001048171.1):c.1129C>T (p.(Gln377Ter)), MUTYH(NM_001128425.2):c.1171C>T (p.Q391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883476" "0" "30" "1" "45797828" "45797828" "subst" "0" "02327" "HPDL_000043" "g.45797828G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883477" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "02326" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000883478" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "02325" "MUTYH_000051" "g.45798117C>T" "" "" "" "MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911080" "0" "30" "1" "45796881" "45796881" "subst" "0.00295618" "02327" "MUTYH_000261" "g.45796881G>A" "" "" "" "MUTYH(NM_001128425.1):c.1449C>T (p.T483=), MUTYH(NM_001128425.2):c.1449C>T (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911081" "0" "30" "1" "45797157" "45797157" "subst" "0.000573124" "02327" "MUTYH_000141" "g.45797157G>T" "" "" "" "MUTYH(NM_001128425.2):c.1258C>A (p.L420M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911082" "0" "30" "1" "45797958" "45797958" "subst" "5.30521E-5" "01804" "HPDL_000044" "g.45797958G>A" "" "" "" "MUTYH(NM_001048171.1):c.771C>T (p.(Asp257=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911083" "0" "90" "1" "45798117" "45798117" "subst" "7.74013E-5" "01804" "MUTYH_000051" "g.45798117C>T" "" "" "" "MUTYH(NM_001048171.1):c.692G>A (p.(Arg231His)), MUTYH(NM_001128425.2):c.734G>A (p.R245H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923193" "0" "30" "1" "45795060" "45795060" "subst" "8.12163E-6" "02327" "MUTYH_000377" "g.45795060C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923194" "0" "90" "1" "45796895" "45796895" "subst" "4.06062E-6" "02325" "MUTYH_000142" "g.45796895C>A" "" "" "" "MUTYH(NM_001128425.2):c.1435G>T (p.E479*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923195" "0" "90" "1" "45796895" "45796897" "del" "0" "02329" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923196" "0" "90" "1" "45797126" "45797135" "del" "0" "02325" "HPDL_000045" "g.45797126_45797135del" "" "" "" "MUTYH(NM_001128425.2):c.1280_1289delGGGCTGGGCC (p.W427Sfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923197" "0" "90" "1" "45797423" "45797423" "del" "0" "02327" "MUTYH_000196" "g.45797423del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923198" "0" "90" "1" "45797887" "45797887" "subst" "1.62583E-5" "01804" "MUTYH_000018" "g.45797887G>A" "" "" "" "MUTYH(NM_001048171.1):c.842C>T (p.(Pro281Leu)), MUTYH(NM_001128425.1):c.884C>T (p.P295L), MUTYH(NM_001128425.2):c.884C>T (p.P295L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923199" "0" "70" "1" "45798138" "45798138" "subst" "0" "01804" "MUTYH_000195" "g.45798138T>C" "" "" "" "MUTYH(NM_001048171.1):c.671A>G (p.(Asn224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000928180" "0" "50" "1" "45797878" "45797878" "subst" "1.62543E-5" "02327" "MUTYH_000482" "g.45797878C>T" "" "" "" "MUTYH(NM_001128425.2):c.893G>A (p.S298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000935892" "0" "70" "1" "45793471" "45793471" "del" "0" "01164" "HPDL_000046" "g.45793471del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "g.45327799del" "" "likely pathogenic (recessive)" "ACMG" "0000935893" "0" "50" "1" "45793474" "45793475" "ins" "0" "01164" "HPDL_000047" "g.45793474_45793475insAAT" "" "" "" "" "ACMG: PM3, PM2_SUP, PM4_SUP" "Germline" "?" "" "" "" "" "g.45327802_45327803insAAT" "" "VUS" "ACMG" "0000947253" "0" "30" "1" "45795043" "45795043" "subst" "0.00341909" "02327" "MUTYH_000177" "g.45795043G>T" "" "" "" "MUTYH(NM_001048171.1):c.1543C>A (p.(Leu515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947254" "0" "90" "1" "45796895" "45796897" "del" "0" "01804" "MUTYH_000086" "g.45796895_45796897del" "" "" "" "MUTYH(NM_001048171.1):c.1395_1397del (p.(Glu466del)), MUTYH(NM_001128425.2):c.1437_1439delGGA (p.E480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947255" "0" "50" "1" "45797139" "45797139" "subst" "0.000792425" "01804" "MUTYH_000081" "g.45797139G>A" "" "" "" "MUTYH(NM_001048171.1):c.1234C>T (p.(Arg412Cys)), MUTYH(NM_001128425.2):c.1276C>T (p.R426C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947256" "0" "70" "1" "45797481" "45797481" "subst" "4.62033E-5" "02329" "MUTYH_000064" "g.45797481C>T" "" "" "" "MUTYH(NM_001128425.2):c.1038G>A (p.S346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947257" "0" "90" "1" "45797835" "45797835" "subst" "7.31083E-5" "02329" "MUTYH_000097" "g.45797835T>G" "" "" "" "MUTYH(NM_001128425.2):c.933+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947258" "0" "50" "1" "45797878" "45797878" "subst" "1.62543E-5" "02329" "MUTYH_000482" "g.45797878C>T" "" "" "" "MUTYH(NM_001128425.2):c.893G>A (p.S298N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947259" "0" "90" "1" "45798112" "45798112" "subst" "4.08383E-6" "01804" "MUTYH_000016" "g.45798112G>A" "" "" "" "MUTYH(NM_001048171.1):c.697C>T (p.(Arg233*)), MUTYH(NM_001128425.1):c.739C>T (p.R247*), MUTYH(NM_001128425.2):c.739C>T (p.R247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947260" "0" "30" "1" "45798418" "45798418" "subst" "1.62423E-5" "01804" "HPDL_000048" "g.45798418T>C" "" "" "" "MUTYH(NM_001048171.1):c.534+17A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952395" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000952396" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000952397" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000952398" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000952399" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}, {PMID:Lynex 2004:15571623}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000952400" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000952401" "3" "90" "1" "45793347" "45793347" "subst" "4.16313E-6" "00006" "HPDL_000049" "g.45793347T>C" "" "{PMID:Morgan 2021:33634263}" "" "" "" "Germline" "yes" "rs773333490" "0" "" "" "g.45327675T>C" "" "pathogenic (recessive)" "" "0000961066" "0" "10" "1" "45795027" "45795027" "subst" "0.00255411" "02326" "MUTYH_000096" "g.45795027C>T" "" "" "" "MUTYH(NM_001048171.1):c.1559G>A (p.(Arg520Gln)), MUTYH(NM_001128425.1):c.1601G>A (p.R534Q), MUTYH(NM_001128425.2):c.1601G>A (p.R534Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961067" "0" "30" "1" "45798225" "45798225" "subst" "0.00721521" "02329" "MUTYH_000070" "g.45798225G>T" "" "" "" "MUTYH(NM_001128425.1):c.690+21C>A, MUTYH(NM_001128425.2):c.690+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961068" "0" "50" "1" "45799120" "45799120" "subst" "2.03032E-5" "02325" "MUTYH_000007" "g.45799120C>T" "" "" "" "MUTYH(NM_001128425.1):c.313G>A (p.D105N), MUTYH(NM_001128425.2):c.313G>A (p.D105N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961069" "0" "30" "1" "45799166" "45799166" "subst" "4.06062E-5" "02327" "HPDL_000050" "g.45799166G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961070" "0" "30" "1" "45799211" "45799211" "subst" "4.06227E-6" "02327" "HPDL_000009" "g.45799211C>T" "" "" "" "MUTYH(NM_001128425.2):c.222G>A (p.E74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973998" "0" "50" "1" "45793695" "45793695" "subst" "4.06233E-6" "01804" "HPDL_000051" "g.45793695G>A" "" "" "" "HPDL(NM_032756.4):c.875G>A (p.(Gly292Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973999" "0" "50" "1" "45793712" "45793712" "subst" "4.06184E-6" "01804" "HPDL_000052" "g.45793712C>T" "" "" "" "HPDL(NM_032756.4):c.892C>T (p.(Arg298*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974000" "0" "10" "1" "45796899" "45796899" "subst" "0.00454804" "02326" "MUTYH_000085" "g.45796899C>G" "" "" "" "MUTYH(NM_001048171.1):c.1389G>C (p.(Thr463=)), MUTYH(NM_001128425.1):c.1431G>C (p.T477=), MUTYH(NM_001128425.2):c.1431G>C (p.T477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000974001" "0" "50" "1" "45796910" "45796910" "subst" "4.46668E-5" "02329" "MUTYH_000277" "g.45796910G>A" "" "" "" "MUTYH(NM_001128425.2):c.1420C>T (p.R474C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974002" "0" "30" "1" "45797255" "45797255" "subst" "0.0036991" "02329" "MUTYH_000104" "g.45797255G>A" "" "" "" "MUTYH(NM_001128425.2):c.1187-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974003" "0" "90" "1" "45797915" "45797915" "del" "0" "02329" "MUTYH_000263" "g.45797915del" "" "" "" "MUTYH(NM_001128425.2):c.859delG (p.A287Pfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024181" "0" "50" "1" "45798461" "45798461" "subst" "1.21818E-5" "02327" "MUTYH_000035" "g.45798461G>A" "" "" "" "MUTYH(NM_001128425.2):c.550C>T (p.R184W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024182" "0" "90" "1" "45798812" "45798812" "del" "0" "01804" "MUTYH_000061" "g.45798812del" "" "" "" "MUTYH(NM_001128425.1):c.421del (p.(Gln141ArgfsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001032089" "0" "50" "1" "45796852" "45796852" "subst" "0.000121821" "02329" "MUTYH_000281" "g.45796852G>A" "" "" "" "MUTYH(NM_001128425.2):c.1476+2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032090" "0" "50" "1" "45796963" "45796963" "subst" "0" "01804" "HPDL_000053" "g.45796963T>A" "" "" "" "MUTYH(NM_001048174.2):c.1283A>T (p.(Tyr428Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032091" "0" "50" "1" "45797216" "45797216" "subst" "0" "02327" "MUTYH_000226" "g.45797216C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032092" "0" "70" "1" "45797534" "45797534" "subst" "0" "02327" "MUTYH_000101" "g.45797534A>C" "" "" "" "MUTYH(NM_001128425.1):c.998-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001032093" "0" "30" "1" "45798781" "45798781" "subst" "7.71567E-5" "02329" "MUTYH_000260" "g.45798781G>A" "" "" "" "MUTYH(NM_001128425.1):c.450C>T (p.T150=), MUTYH(NM_001128425.2):c.450C>T (p.T150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045689" "0" "90" "1" "45799108" "45799108" "subst" "3.65473E-5" "02326" "MUTYH_000008" "g.45799108G>A" "" "" "" "MUTYH(NM_001128425.1):c.325C>T (p.R109W), MUTYH(NM_001128425.2):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 HPDL ## Count = 276 "{{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}}" "0000255175" "00009596" "30" "3395" "0" "3395" "0" "c.*2279A>G" "r.(=)" "p.(=)" "" "0000255672" "00009596" "90" "4714" "0" "4714" "0" "c.*3598A>C" "r.(=)" "p.(=)" "" "0000280180" "00009596" "10" "4685" "0" "4685" "0" "c.*3569C>G" "r.(=)" "p.(=)" "" "0000280181" "00009596" "70" "4661" "0" "4661" "0" "c.*3545C>T" "r.(=)" "p.(=)" "" "0000280182" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000280184" "00009596" "30" "4319" "0" "4319" "0" "c.*3203G>A" "r.(=)" "p.(=)" "" "0000280185" "00009596" "30" "4079" "0" "4079" "0" "c.*2963C>G" "r.(=)" "p.(=)" "" "0000280186" "00009596" "30" "2271" "0" "2271" "0" "c.*1155C>A" "r.(=)" "p.(=)" "" "0000280187" "00009596" "10" "2264" "0" "2264" "0" "c.*1148G>A" "r.(=)" "p.(=)" "" "0000280188" "00009596" "30" "6301" "0" "6301" "0" "c.*5185G>A" "r.(=)" "p.(=)" "" "0000280189" "00009596" "50" "6300" "0" "6300" "0" "c.*5184C>T" "r.(=)" "p.(=)" "" "0000280190" "00009596" "10" "6254" "0" "6254" "0" "c.*5138C>T" "r.(=)" "p.(=)" "" "0000280191" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000280193" "00009596" "30" "5412" "0" "5412" "0" "c.*4296G>C" "r.(=)" "p.(=)" "" "0000280194" "00009596" "90" "5292" "0" "5292" "0" "c.*4176G>A" "r.(=)" "p.(=)" "" "0000280196" "00009596" "30" "5265" "0" "5265" "0" "c.*4149T>C" "r.(=)" "p.(=)" "" "0000280197" "00009596" "30" "5070" "0" "5070" "0" "c.*3954C>T" "r.(=)" "p.(=)" "" "0000280198" "00009596" "90" "5067" "0" "5067" "0" "c.*3951G>A" "r.(=)" "p.(=)" "" "0000282699" "00009596" "10" "4685" "0" "4685" "0" "c.*3569C>G" "r.(=)" "p.(=)" "" "0000282700" "00009596" "90" "4554" "0" "4554" "0" "c.*3438del" "r.(?)" "p.(=)" "" "0000282701" "00009596" "30" "4504" "0" "4504" "0" "c.*3388T>A" "r.(=)" "p.(=)" "" "0000282702" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000282703" "00009596" "90" "4381" "0" "4381" "0" "c.*3265G>A" "r.(=)" "p.(=)" "" "0000282704" "00009596" "30" "4345" "0" "4345" "0" "c.*3229C>T" "r.(=)" "p.(=)" "" "0000282705" "00009596" "10" "4063" "0" "4063" "0" "c.*2947T>G" "r.(=)" "p.(=)" "" "0000282706" "00009596" "10" "2264" "0" "2264" "0" "c.*1148G>A" "r.(=)" "p.(=)" "" "0000282707" "00009596" "30" "6301" "0" "6301" "0" "c.*5185G>A" "r.(=)" "p.(=)" "" "0000282709" "00009596" "50" "5793" "0" "5793" "0" "c.*4677C>G" "r.(=)" "p.(=)" "" "0000282710" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000282712" "00009596" "30" "5412" "0" "5412" "0" "c.*4296G>C" "r.(=)" "p.(=)" "" "0000283753" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000283754" "00009596" "30" "4117" "0" "4117" "0" "c.*3001G>C" "r.(=)" "p.(=)" "" "0000283755" "00009596" "10" "4079" "0" "4079" "0" "c.*2963C>G" "r.(=)" "p.(=)" "" "0000283756" "00009596" "10" "2264" "0" "2264" "0" "c.*1148G>A" "r.(=)" "p.(=)" "" "0000283757" "00009596" "30" "2208" "0" "2208" "0" "c.*1092G>A" "r.(=)" "p.(=)" "" "0000283758" "00009596" "30" "6301" "0" "6301" "0" "c.*5185G>A" "r.(=)" "p.(=)" "" "0000283759" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000283760" "00009596" "30" "5412" "0" "5412" "0" "c.*4296G>C" "r.(=)" "p.(=)" "" "0000283761" "00009596" "90" "5067" "0" "5067" "0" "c.*3951G>A" "r.(=)" "p.(=)" "" "0000286716" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000292215" "00009596" "30" "4699" "0" "4699" "0" "c.*3583G>C" "r.(=)" "p.(=)" "" "0000292216" "00009596" "10" "4685" "0" "4685" "0" "c.*3569C>G" "r.(=)" "p.(=)" "" "0000292217" "00009596" "90" "4554" "0" "4554" "0" "c.*3438del" "r.(?)" "p.(=)" "" "0000292218" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000292219" "00009596" "90" "4381" "0" "4381" "0" "c.*3265G>A" "r.(=)" "p.(=)" "" "0000292221" "00009596" "50" "4354" "0" "4354" "0" "c.*3238T>C" "r.(=)" "p.(=)" "" "0000292222" "00009596" "10" "4079" "0" "4079" "0" "c.*2963C>G" "r.(=)" "p.(=)" "" "0000292223" "00009596" "10" "2264" "0" "2264" "0" "c.*1148G>A" "r.(=)" "p.(=)" "" "0000292225" "00009596" "30" "6446" "0" "6446" "0" "c.*5330C>A" "r.(=)" "p.(=)" "" "0000292226" "00009596" "30" "6301" "0" "6301" "0" "c.*5185G>A" "r.(=)" "p.(=)" "" "0000292227" "00009596" "10" "5690" "0" "5690" "0" "c.*4574T>C" "r.(=)" "p.(=)" "" "0000292228" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000292229" "00009596" "50" "5449" "0" "5449" "0" "c.*4333T>C" "r.(=)" "p.(=)" "" "0000292230" "00009596" "10" "5405" "0" "5405" "0" "c.*4289G>T" "r.(=)" "p.(=)" "" "0000292231" "00009596" "90" "5292" "0" "5292" "0" "c.*4176G>A" "r.(=)" "p.(=)" "" "0000292233" "00009596" "50" "4728" "0" "4728" "0" "c.*3612C>T" "r.(=)" "p.(=)" "" "0000320790" "00009596" "10" "2264" "0" "2264" "0" "c.*1148G>A" "r.(=)" "p.(=)" "" "0000320791" "00009596" "50" "5295" "0" "5295" "0" "c.*4179C>A" "r.(=)" "p.(=)" "" "0000338128" "00009596" "10" "4435" "0" "4435" "0" "c.*3319G>A" "r.(=)" "p.(=)" "" "0000338129" "00009596" "30" "4728" "0" "4728" "0" "c.*3612C>T" "r.(=)" "p.(=)" "" "0000338130" "00009596" "30" "5412" "0" "5412" "0" "c.*4296G>C" "r.(=)" "p.(=)" "" "0000338131" "00009596" "10" "5735" "0" "5735" "0" "c.*4619T>C" "r.(=)" "p.(=)" "" "0000340114" "00009596" "30" "4079" "0" "4079" "0" "c.*2963C>G" "r.(=)" "p.(=)" "" "0000340115" "00009596" "30" "5284" "0" "5284" "0" "c.*4168A>G" "r.(=)" "p.(=)" "" "0000340116" "00009596" "30" "5335" "0" "5335" "0" "c.*4219G>A" "r.(=)" "p.(=)" "" "0000340117" "00009596" "30" "6301" "0" "6301" "0" "c.*5185G>A" "r.(=)" "p.(=)" "" "0000340775" "00009596" "30" "5958" "0" "5958" "0" "c.*4842T>C" "r.(=)" "p.(=)" "" "0000341281" "00009596" "50" "5437" "0" "5437" "0" "c.*4321C>T" "r.(=)" "p.(=)" "" "0000341282" "00009596" "50" "5436" "0" "5436" "0" "c.*4320G>A" "r.(=)" "p.(=)" "" "0000341712" "00009596" "90" "6288" "0" "6288" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" "0000342380" "00009596" "90" "5309" "0" "5309" "0" "c.*4193C>T" "r.(=)" "p.(=)" "" "0000342600" "00009596" "30" "5026" "0" "5026" "0" "c.*3910G>A" "r.(=)" "p.(=)" "" "0000342879" "00009596" "50" "4319" "0" "4319" "0" "c.*3203G>A" "r.(=)" "p.(=)" "" "0000343057" "00009596" "30" "2241" "0" "2241" "0" "c.*1125G>A" "r.(=)" "p.(=)" "" "0000343945" "00009596" "70" "5793" "0" "5793" "0" "c.*4677C>G" "r.(=)" "p.(=)" "" "0000344774" "00009596" "10" "4685" "0" "4685" "0" "c.*3569C>G" "r.(=)" "p.(=)" "" "0000344811" "00009596" "90" "4528" "0" "4528" "0" "c.*3412G>A" "r.(=)" "p.(=)" "" "0000345452" "00009596" "90" "4075" "0" "4077" "0" "c.*2959_*2961del" "r.(=)" "p.(=)" "" "0000346052" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000348433" "00009596" "90" "4381" "0" "4381" "0" "c.*3265G>A" "r.(=)" "p.(=)" "" "0000349069" "00009596" "30" "2264" "0" "2264" "0" "c.*1148G>A" "r.(=)" "p.(=)" "" "0000349958" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000351212" "00009596" "10" "3449" "0" "3449" "0" "c.*2333G>C" "r.(=)" "p.(=)" "" "0000351213" "00009596" "90" "5015" "0" "5015" "0" "c.*3899T>G" "r.(=)" "p.(=)" "" "0000507640" "00009596" "10" "2207" "0" "2207" "0" "c.*1091C>T" "r.(=)" "p.(=)" "" "0000507641" "00009596" "50" "4045" "0" "4045" "0" "c.*2929C>T" "r.(=)" "p.(=)" "" "0000507642" "00009596" "10" "4061" "0" "4061" "0" "c.*2945G>A" "r.(=)" "p.(=)" "" "0000507643" "00009596" "30" "4063" "0" "4063" "0" "c.*2947T>G" "r.(=)" "p.(=)" "" "0000507644" "00009596" "10" "4206" "0" "4206" "0" "c.*3090G>A" "r.(=)" "p.(=)" "" "0000507645" "00009596" "30" "4285" "0" "4285" "0" "c.*3169C>T" "r.(=)" "p.(=)" "" "0000507646" "00009596" "30" "4337" "0" "4337" "0" "c.*3221G>T" "r.(=)" "p.(=)" "" "0000507647" "00009596" "90" "4368" "0" "4369" "0" "c.*3252_*3253dup" "r.(=)" "p.(=)" "" "0000507648" "00009596" "90" "4368" "0" "4369" "0" "c.*3252_*3253dup" "r.(=)" "p.(=)" "" "0000507649" "00009596" "90" "4381" "0" "4381" "0" "c.*3265G>A" "r.(=)" "p.(=)" "" "0000507650" "00009596" "90" "4381" "0" "4381" "0" "c.*3265G>A" "r.(=)" "p.(=)" "" "0000507651" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000507652" "00009596" "90" "4554" "0" "4554" "0" "c.*3438del" "r.(?)" "p.(=)" "" "0000507653" "00009596" "50" "4686" "0" "4686" "0" "c.*3570T>C" "r.(=)" "p.(=)" "" "0000507654" "00009596" "70" "4875" "0" "4875" "0" "c.*3759C>G" "r.(=)" "p.(=)" "" "0000507656" "00009596" "30" "5026" "0" "5026" "0" "c.*3910G>A" "r.(=)" "p.(=)" "" "0000507657" "00009596" "50" "5026" "0" "5026" "0" "c.*3910G>A" "r.(=)" "p.(=)" "" "0000507658" "00009596" "30" "5026" "0" "5026" "0" "c.*3910G>A" "r.(=)" "p.(=)" "" "0000507659" "00009596" "90" "5067" "0" "5067" "0" "c.*3951G>A" "r.(=)" "p.(=)" "" "0000507660" "00009596" "30" "5070" "0" "5070" "0" "c.*3954C>T" "r.(=)" "p.(=)" "" "0000507661" "00009596" "90" "5292" "0" "5292" "0" "c.*4176G>A" "r.(=)" "p.(=)" "" "0000507662" "00009596" "90" "5297" "0" "5297" "0" "c.*4181C>T" "r.(=)" "p.(=)" "" "0000507663" "00009596" "90" "5310" "0" "5310" "0" "c.*4194G>A" "r.(=)" "p.(=)" "" "0000507664" "00009596" "90" "5310" "0" "5310" "0" "c.*4194G>A" "r.(=)" "p.(=)" "" "0000507665" "00009596" "50" "5467" "0" "5467" "0" "c.*4351G>A" "r.(=)" "p.(=)" "" "0000507666" "00009596" "50" "5467" "0" "5467" "0" "c.*4351G>A" "r.(=)" "p.(=)" "" "0000507667" "00009596" "70" "5508" "0" "5508" "0" "c.*4392C>G" "r.(=)" "p.(=)" "" "0000507668" "00009596" "90" "5646" "0" "5646" "0" "c.*4530C>T" "r.(=)" "p.(=)" "" "0000507669" "00009596" "90" "5655" "0" "5655" "0" "c.*4539T>C" "r.(=)" "p.(=)" "" "0000507670" "00009596" "10" "5690" "0" "5690" "0" "c.*4574T>C" "r.(=)" "p.(=)" "" "0000507671" "00009596" "30" "5961" "0" "5961" "0" "c.*4845G>A" "r.(=)" "p.(=)" "" "0000507672" "00009596" "30" "5961" "0" "5961" "0" "c.*4845G>A" "r.(=)" "p.(=)" "" "0000507673" "00009596" "50" "6028" "0" "6028" "0" "c.*4912G>A" "r.(=)" "p.(=)" "" "0000507674" "00009596" "30" "6034" "0" "6034" "0" "c.*4918G>A" "r.(=)" "p.(=)" "" "0000507675" "00009596" "30" "6081" "0" "6081" "0" "c.*4965C>T" "r.(=)" "p.(=)" "" "0000507676" "00009596" "90" "6173" "0" "6173" "0" "c.*5057C>A" "r.(=)" "p.(=)" "" "0000507677" "00009596" "90" "6288" "0" "6288" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" "0000507678" "00009596" "50" "6288" "0" "6288" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" "0000507679" "00009596" "50" "6300" "0" "6300" "0" "c.*5184C>T" "r.(=)" "p.(=)" "" "0000507680" "00009596" "90" "6301" "0" "6301" "0" "c.*5185G>T" "r.(=)" "p.(=)" "" "0000507681" "00009596" "50" "6377" "0" "6377" "0" "c.*5261G>T" "r.(=)" "p.(=)" "" "0000507682" "00009596" "30" "6391" "0" "6391" "0" "c.*5275C>T" "r.(=)" "p.(=)" "" "0000605798" "00009596" "10" "2207" "0" "2207" "0" "c.*1091C>T" "r.(=)" "p.(=)" "" "0000605799" "00009596" "90" "5292" "0" "5292" "0" "c.*4176G>A" "r.(=)" "p.(=)" "" "0000605800" "00009596" "50" "5473" "0" "5473" "0" "c.*4357C>A" "r.(=)" "p.(=)" "" "0000605801" "00009596" "50" "5793" "0" "5793" "0" "c.*4677C>G" "r.(=)" "p.(=)" "" "0000605802" "00009596" "90" "6023" "0" "6023" "0" "c.*4907C>T" "r.(=)" "p.(=)" "" "0000605803" "00009596" "30" "6028" "0" "6028" "0" "c.*4912G>A" "r.(=)" "p.(=)" "" "0000605804" "00009596" "30" "6446" "0" "6446" "0" "c.*5330C>A" "r.(=)" "p.(=)" "" "0000620651" "00009596" "70" "5641" "0" "5641" "0" "c.*4525G>A" "r.(=)" "p.(=)" "" "0000654050" "00009596" "30" "2261" "0" "2261" "0" "c.*1145G>T" "r.(=)" "p.(=)" "" "0000654051" "00009596" "90" "4075" "0" "4077" "0" "c.*2959_*2961del" "r.(=)" "p.(=)" "" "0000654052" "00009596" "50" "4117" "0" "4117" "0" "c.*3001G>C" "r.(=)" "p.(=)" "" "0000654053" "00009596" "30" "4504" "0" "4504" "0" "c.*3388T>A" "r.(=)" "p.(=)" "" "0000654054" "00009596" "30" "4695" "0" "4695" "0" "c.*3579T>C" "r.(=)" "p.(=)" "" "0000674969" "00009596" "90" "596" "0" "599" "0" "c.596_599delinsCAGGTCAGGAT" "r.(?)" "p.(Leu199Profs*36)" "1" "0000674972" "00009596" "90" "215" "0" "226" "0" "c.215_226delinsTGTACGGCCTGGAT" "r.(?)" "p.(Arg72Leufs*60)" "1" "0000675010" "00009596" "90" "596" "0" "599" "0" "c.596_599delinsCAGGTCAGGAT" "r.(?)" "p.(Leu199Profs*36)" "1" "0000675011" "00009596" "90" "215" "0" "226" "0" "c.215_226delinsTGTACGGCCTGGAT" "r.(?)" "p.(Arg72Leufs*60)" "1" "0000675012" "00009596" "90" "1067" "0" "1071" "0" "c.1067_1071del" "r.(?)" "p.(Ala356Valfs*45)" "1" "0000675013" "00009596" "90" "131" "0" "131" "0" "c.131A>T" "r.(?)" "p.(Gln44Leu)" "1" "0000675016" "00009596" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Leu261Val)" "1" "0000675017" "00009596" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "1" "0000675018" "00009596" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Leu261Val)" "1" "0000675019" "00009596" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "1" "0000675042" "00009596" "90" "342" "0" "343" "0" "c.342_343insTGCC" "r.(?)" "p.(Ala115Cysfs*82)" "" "0000675043" "00009596" "90" "342" "0" "343" "0" "c.342_343insTGCC" "r.(?)" "p.(Ala115Cysfs*82)" "" "0000675044" "00009596" "90" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Gly260Glu)" "" "0000675045" "00009596" "90" "779" "0" "779" "0" "c.779G>A" "r.(?)" "p.(Gly260Glu)" "" "0000675046" "00009596" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Gln241*)" "" "0000675047" "00009596" "90" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Gln342*)" "" "0000675048" "00009596" "90" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Leu217Pro)" "" "0000675049" "00009596" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Cys168Tyr)" "" "0000675050" "00009596" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Cys168Tyr)" "" "0000675051" "00009596" "90" "701" "0" "701" "0" "c.701T>C" "r.(?)" "p.(Leu234Pro)" "" "0000675052" "00009596" "90" "469" "0" "469" "0" "c.469T>C" "r.spl" "p.(Trp157Arg)" "" "0000675053" "00009596" "90" "698" "0" "699" "0" "c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC" "r.(?)" "p.(Leu234Glyfs*94)" "" "0000675054" "00009596" "90" "280" "0" "280" "0" "c.280del" "r.(?)" "p.(Glu94Serfs*37)" "" "0000675055" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000675056" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000675057" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000675058" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000675059" "00009596" "90" "797" "0" "797" "0" "c.797T>C" "r.(?)" "p.(Ile266Thr)" "" "0000675060" "00009596" "90" "537" "0" "537" "0" "c.537G>C" "r.(?)" "p.(Trp179Cys)" "" "0000675062" "00009596" "90" "537" "0" "537" "0" "c.537G>C" "r.(?)" "p.(Trp179Cys)" "" "0000675063" "00009596" "90" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Leu248Pro)" "" "0000675064" "00009596" "90" "753" "0" "753" "0" "c.753C>A" "r.(?)" "p.(His251Gln)" "" "0000675065" "00009596" "90" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Tyr287His)" "" "0000675067" "00009596" "90" "650" "0" "650" "0" "c.650T>C" "r.(?)" "p.(Leu217Pro)" "1" "0000675873" "00009596" "30" "2223" "0" "2223" "0" "c.*1107G>T" "r.(=)" "p.(=)" "" "0000675874" "00009596" "90" "4528" "0" "4528" "0" "c.*3412G>A" "r.(=)" "p.(=)" "" "0000675875" "00009596" "70" "5637" "0" "5637" "0" "c.*4521C>T" "r.(=)" "p.(=)" "" "0000688187" "00009596" "30" "3421" "0" "3421" "0" "c.*2305G>T" "r.(=)" "p.(=)" "" "0000688188" "00009596" "10" "4061" "0" "4061" "0" "c.*2945G>A" "r.(=)" "p.(=)" "" "0000688189" "00009596" "90" "4075" "0" "4077" "0" "c.*2959_*2961del" "r.(=)" "p.(=)" "" "0000688190" "00009596" "50" "4319" "0" "4319" "0" "c.*3203G>A" "r.(=)" "p.(=)" "" "0000688191" "00009596" "90" "4554" "0" "4554" "0" "c.*3438del" "r.(?)" "p.(=)" "" "0000698022" "00009596" "90" "698" "0" "699" "0" "c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC" "r.(?)" "p.(Leu234GlyfsTer94)" "" "0000698023" "00009596" "90" "1024" "0" "1024" "0" "c.1024C>T" "r.(?)" "p.(Gln342Ter)" "" "0000698024" "00009596" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Cys168Tyr)" "" "0000698025" "00009596" "90" "537" "0" "537" "0" "c.537G>C" "r.(?)" "p.(Trp179Cys)" "" "0000698026" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000698027" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000698028" "00009596" "90" "469" "0" "469" "0" "c.469T>C" "r.(?)" "p.(Trp157Arg)" "" "0000698029" "00009596" "90" "753" "0" "753" "0" "c.753C>A" "r.(?)" "p.(His251Gln)" "" "0000717524" "00009596" "30" "4079" "0" "4079" "0" "c.*2963C>G" "r.(=)" "p.(=)" "" "0000717525" "00009596" "30" "5026" "0" "5026" "0" "c.*3910G>A" "r.(=)" "p.(=)" "" "0000717526" "00009596" "50" "5071" "0" "5071" "0" "c.*3955G>A" "r.(=)" "p.(=)" "" "0000717527" "00009596" "70" "5104" "0" "5104" "0" "c.*3988T>C" "r.(=)" "p.(=)" "" "0000717528" "00009596" "70" "5131" "0" "5131" "0" "c.*4015G>A" "r.(=)" "p.(=)" "" "0000717529" "00009596" "90" "5149" "0" "5149" "0" "c.*4033G>A" "r.(=)" "p.(=)" "" "0000717530" "00009596" "50" "5449" "0" "5449" "0" "c.*4333T>C" "r.(=)" "p.(=)" "" "0000717531" "00009596" "30" "6266" "0" "6266" "0" "c.*5150C>T" "r.(=)" "p.(=)" "" "0000717532" "00009596" "50" "6300" "0" "6300" "0" "c.*5184C>T" "r.(=)" "p.(=)" "" "0000717533" "00009596" "50" "6446" "0" "6446" "0" "c.*5330C>T" "r.(=)" "p.(=)" "" "0000785615" "00009596" "90" "596" "0" "599" "0" "c.596_599delinsCAGGTGAGGAT" "r.(?)" "p.(Leu199Profs*36)" "1" "0000785701" "00009596" "90" "215" "0" "226" "0" "c.215_226delinsTGTACGGCCTGGAT" "r.(?)" "p.(Arg72Leufs*60)" "1" "0000786040" "00009596" "90" "215" "0" "226" "0" "c.215_226delinsTGTACGGCCTGGAT" "r.(?)" "p.(Arg72Leufs*60)" "1" "0000786041" "00009596" "90" "596" "0" "599" "0" "c.596_599delinsCAGGTGAGGAT" "r.(?)" "p.(Leu199Profs*36)" "1" "0000799391" "00009596" "10" "4061" "0" "4061" "0" "c.*2945G>A" "r.(=)" "p.(=)" "" "0000799392" "00009596" "50" "4313" "0" "4313" "0" "c.*3197C>G" "r.(=)" "p.(=)" "" "0000799393" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000799394" "00009596" "50" "4644" "0" "4644" "0" "c.*3528G>A" "r.(=)" "p.(=)" "" "0000799395" "00009596" "30" "5335" "0" "5335" "0" "c.*4219G>A" "r.(=)" "p.(=)" "" "0000799396" "00009596" "50" "5437" "0" "5437" "0" "c.*4321C>T" "r.(=)" "p.(=)" "" "0000799397" "00009596" "10" "6254" "0" "6254" "0" "c.*5138C>T" "r.(=)" "p.(=)" "" "0000799398" "00009596" "30" "6446" "0" "6446" "0" "c.*5330C>A" "r.(=)" "p.(=)" "" "0000810848" "00009596" "90" "599" "0" "599" "0" "c.599del" "r.(?)" "p.(Gly200Alafs*4)" "" "0000827810" "00009596" "70" "1013" "0" "1013" "0" "c.1013T>C" "r.(?)" "p.(Leu338Pro)" "" "0000842066" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "1" "0000842067" "00009596" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "1" "0000848751" "00009596" "90" "5310" "0" "5310" "0" "c.*4194G>A" "r.(=)" "p.(=)" "" "0000857511" "00009596" "30" "2207" "0" "2207" "0" "c.*1091C>T" "r.(=)" "p.(=)" "" "0000857512" "00009596" "90" "4368" "0" "4369" "0" "c.*3252_*3253dup" "r.(=)" "p.(=)" "" "0000857513" "00009596" "50" "4699" "0" "4699" "0" "c.*3583G>C" "r.(=)" "p.(=)" "" "0000857514" "00009596" "50" "5026" "0" "5026" "0" "c.*3910G>A" "r.(=)" "p.(=)" "" "0000883470" "00009596" "30" "4294" "0" "4294" "0" "c.*3178G>A" "r.(=)" "p.(=)" "" "0000883471" "00009596" "50" "4319" "0" "4319" "0" "c.*3203G>A" "r.(=)" "p.(=)" "" "0000883472" "00009596" "50" "4337" "0" "4337" "0" "c.*3221G>T" "r.(=)" "p.(=)" "" "0000883473" "00009596" "90" "4408" "0" "4408" "0" "c.*3292C>T" "r.(=)" "p.(=)" "" "0000883474" "00009596" "90" "4528" "0" "4528" "0" "c.*3412G>A" "r.(=)" "p.(=)" "" "0000883476" "00009596" "30" "5008" "0" "5008" "0" "c.*3892G>A" "r.(=)" "p.(=)" "" "0000883477" "00009596" "90" "5067" "0" "5067" "0" "c.*3951G>A" "r.(=)" "p.(=)" "" "0000883478" "00009596" "90" "5297" "0" "5297" "0" "c.*4181C>T" "r.(=)" "p.(=)" "" "0000911080" "00009596" "30" "4061" "0" "4061" "0" "c.*2945G>A" "r.(=)" "p.(=)" "" "0000911081" "00009596" "30" "4337" "0" "4337" "0" "c.*3221G>T" "r.(=)" "p.(=)" "" "0000911082" "00009596" "30" "5138" "0" "5138" "0" "c.*4022G>A" "r.(=)" "p.(=)" "" "0000911083" "00009596" "90" "5297" "0" "5297" "0" "c.*4181C>T" "r.(=)" "p.(=)" "" "0000923193" "00009596" "30" "2240" "0" "2240" "0" "c.*1124C>T" "r.(=)" "p.(=)" "" "0000923194" "00009596" "90" "4075" "0" "4075" "0" "c.*2959C>A" "r.(=)" "p.(=)" "" "0000923195" "00009596" "90" "4075" "0" "4077" "0" "c.*2959_*2961del" "r.(=)" "p.(=)" "" "0000923196" "00009596" "90" "4306" "0" "4315" "0" "c.*3190_*3199del" "r.(=)" "p.(=)" "" "0000923197" "00009596" "90" "4603" "0" "4603" "0" "c.*3487del" "r.(?)" "p.(=)" "" "0000923198" "00009596" "90" "5067" "0" "5067" "0" "c.*3951G>A" "r.(=)" "p.(=)" "" "0000923199" "00009596" "70" "5318" "0" "5318" "0" "c.*4202T>C" "r.(=)" "p.(=)" "" "0000928180" "00009596" "50" "5058" "0" "5058" "0" "c.*3942C>T" "r.(=)" "p.(=)" "" "0000935892" "00009596" "70" "651" "0" "651" "0" "c.651del" "r.(?)" "p.(Gln218Argfs*97)" "" "0000935893" "00009596" "50" "654" "0" "655" "0" "c.654_655insAAT" "r.(?)" "p.(Gln218_Ala219insAsn)" "" "0000947253" "00009596" "30" "2223" "0" "2223" "0" "c.*1107G>T" "r.(=)" "p.(=)" "" "0000947254" "00009596" "90" "4075" "0" "4077" "0" "c.*2959_*2961del" "r.(=)" "p.(=)" "" "0000947255" "00009596" "50" "4319" "0" "4319" "0" "c.*3203G>A" "r.(=)" "p.(=)" "" "0000947256" "00009596" "70" "4661" "0" "4661" "0" "c.*3545C>T" "r.(=)" "p.(=)" "" "0000947257" "00009596" "90" "5015" "0" "5015" "0" "c.*3899T>G" "r.(=)" "p.(=)" "" "0000947258" "00009596" "50" "5058" "0" "5058" "0" "c.*3942C>T" "r.(=)" "p.(=)" "" "0000947259" "00009596" "90" "5292" "0" "5292" "0" "c.*4176G>A" "r.(=)" "p.(=)" "" "0000947260" "00009596" "30" "5598" "0" "5598" "0" "c.*4482T>C" "r.(=)" "p.(=)" "" "0000952395" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000952396" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000952397" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000952398" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000952399" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000952400" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000952401" "00009596" "90" "527" "0" "527" "0" "c.527T>C" "r.(?)" "p.(Leu176Pro)" "" "0000961066" "00009596" "10" "2207" "0" "2207" "0" "c.*1091C>T" "r.(=)" "p.(=)" "" "0000961067" "00009596" "30" "5405" "0" "5405" "0" "c.*4289G>T" "r.(=)" "p.(=)" "" "0000961068" "00009596" "50" "6300" "0" "6300" "0" "c.*5184C>T" "r.(=)" "p.(=)" "" "0000961069" "00009596" "30" "6346" "0" "6346" "0" "c.*5230G>A" "r.(=)" "p.(=)" "" "0000961070" "00009596" "30" "6391" "0" "6391" "0" "c.*5275C>T" "r.(=)" "p.(=)" "" "0000973998" "00009596" "50" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Gly292Glu)" "" "0000973999" "00009596" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298*)" "" "0000974000" "00009596" "10" "4079" "0" "4079" "0" "c.*2963C>G" "r.(=)" "p.(=)" "" "0000974001" "00009596" "50" "4090" "0" "4090" "0" "c.*2974G>A" "r.(=)" "p.(=)" "" "0000974002" "00009596" "30" "4435" "0" "4435" "0" "c.*3319G>A" "r.(=)" "p.(=)" "" "0000974003" "00009596" "90" "5095" "0" "5095" "0" "c.*3979del" "r.(?)" "p.(=)" "" "0001024181" "00009596" "50" "5641" "0" "5641" "0" "c.*4525G>A" "r.(=)" "p.(=)" "" "0001024182" "00009596" "90" "5992" "0" "5992" "0" "c.*4876del" "r.(?)" "p.(=)" "" "0001032089" "00009596" "50" "4032" "0" "4032" "0" "c.*2916G>A" "r.(=)" "p.(=)" "" "0001032090" "00009596" "50" "4143" "0" "4143" "0" "c.*3027T>A" "r.(=)" "p.(=)" "" "0001032091" "00009596" "50" "4396" "0" "4396" "0" "c.*3280C>A" "r.(=)" "p.(=)" "" "0001032092" "00009596" "70" "4714" "0" "4714" "0" "c.*3598A>C" "r.(=)" "p.(=)" "" "0001032093" "00009596" "30" "5961" "0" "5961" "0" "c.*4845G>A" "r.(=)" "p.(=)" "" "0001045689" "00009596" "90" "6288" "0" "6288" "0" "c.*5172G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{variantid}}" "0000308129" "0000674969" "0000308129" "0000674972" "0000308169" "0000675010" "0000308169" "0000675011" "0000308170" "0000675012" "0000308170" "0000675013" "0000308172" "0000675016" "0000308172" "0000675017" "0000308173" "0000675018" "0000308173" "0000675019" "0000308191" "0000675042" "0000308192" "0000675043" "0000308193" "0000675044" "0000308194" "0000675045" "0000308195" "0000675046" "0000308196" "0000675047" "0000308197" "0000675048" "0000308197" "0000675059" "0000308198" "0000675049" "0000308198" "0000675060" "0000308199" "0000675050" "0000308199" "0000675062" "0000308200" "0000675051" "0000308200" "0000675063" "0000308201" "0000675052" "0000308201" "0000675064" "0000308202" "0000675053" "0000308203" "0000675054" "0000308203" "0000675065" "0000308204" "0000675055" "0000308205" "0000675056" "0000308206" "0000675057" "0000308207" "0000675058" "0000308210" "0000675067" "0000315917" "0000698022" "0000315918" "0000698023" "0000315919" "0000698024" "0000315919" "0000698025" "0000315920" "0000698026" "0000315921" "0000698027" "0000315922" "0000698028" "0000315922" "0000698029" "0000374769" "0000785615" "0000374769" "0000785701" "0000375032" "0000786040" "0000375032" "0000786041" "0000384280" "0000810848" "0000396241" "0000827810" "0000405905" "0000842066" "0000405906" "0000842067" "0000439764" "0000935892" "0000439764" "0000935893" "0000445402" "0000952395" "0000445403" "0000952396" "0000445404" "0000952397" "0000445405" "0000952398" "0000445406" "0000952399" "0000445407" "0000952400" "0000445408" "0000952401"