{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA014609", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3665067", "active": true, "id": "COSM3665067" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181681[alleleid]", "alleleId": 181681, "preferredName": "NM_001048174.2(MUTYH):c.835C>T (p.Arg279Trp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186405", "RCV": [ "RCV000165997", "RCV000640360", "RCV003441765", "RCV003320586" ], "variationId": 186405 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45797852-G-A", "id": "1-45797852-G-A", "variant": "1:45797852 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797852G>A?assembly=hg19", "id": "chr1:g.45797852G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332180G>A?assembly=hg38", "id": "chr1:g.45332180G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/759822330", "rs": 759822330 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45797852-G-A?dataset=gnomad_r2_1", "id": "1-45797852-G-A", "variant": "1:45797852 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332180-G-A?dataset=gnomad_r3", "id": "1-45332180-G-A", "variant": "1:45332180 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332180-G-A?dataset=gnomad_r4", "id": "1-45332180-G-A", "variant": "1:45332180 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45332180, "referenceAllele": "G", "start": 45332179 } ], "hgvs": [ "NC_000001.11:g.45332180G>A", "CM000663.2:g.45332180G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45797852, "referenceAllele": "G", "start": 45797851 } ], "hgvs": [ "NC_000001.10:g.45797852G>A", "CM000663.1:g.45797852G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45570439, "referenceAllele": "G", "start": 45570438 } ], "hgvs": [ "NC_000001.9:g.45570439G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 13291, "referenceAllele": "C", "start": 13290 } ], "hgvs": [ "NG_008189.1:g.13291C>T", "LRG_220:g.13291C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.451C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Arg151Trp", "hgvsWellDefined": "ENSP00000410263.2:p.Arg151Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Arg290Trp", "hgvsWellDefined": "ENSP00000403655.2:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Arg279Trp", "hgvsWellDefined": "ENSP00000435889.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "T", "end": 1359, "referenceAllele": "C", "start": 1358 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.853C>T" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Arg285Trp", "hgvsWellDefined": "ENSP00000436469.2:p.Arg285Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Arg279Trp", "hgvsWellDefined": "ENSP00000431264.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "T", "end": 1038, "referenceAllele": "C", "start": 1037 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Arg293Trp", "hgvsWellDefined": "ENSP00000432528.2:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*164C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*164C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 1965, "referenceAllele": "C", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Arg279Trp", "hgvsWellDefined": "ENSP00000500828.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.919C>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Arg307Trp", "hgvsWellDefined": "ENSP00000518552.2:p.Arg307Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.919C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.919C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg307Trp" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg307Trp" } } } }, { "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.910C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg304Trp", "hgvsWellDefined": "ENSP00000500891.1:p.Arg304Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg279Trp", "hgvsWellDefined": "ENSP00000407590.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.835C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.835C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg279Trp" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg279Trp" } } } }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*574C>T" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "T", "end": 1813, "referenceAllele": "C", "start": 1812 } ], "hgvs": [ "ENST00000671898.1:c.1423C>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Arg475Trp", "hgvsWellDefined": "ENSP00000499896.1:p.Arg475Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 1442, "referenceAllele": "C", "start": 1441 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*164C>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*164C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 1965, "referenceAllele": "C", "start": 1964 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Arg279Trp", "hgvsWellDefined": "ENSP00000500828.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*888C>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*888C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 909, "referenceAllele": "C", "start": 908 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.*164C>T" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.*164C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.910C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg304Trp", "hgvsWellDefined": "ENSP00000500891.1:p.Arg304Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 697, "referenceAllele": "C", "start": 696 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*532C>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*532C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 949, "referenceAllele": "C", "start": 948 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.838C>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Arg280Trp", "hgvsWellDefined": "ENSP00000346354.6:p.Arg280Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Arg279Trp", "hgvsWellDefined": "ENSP00000347685.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 1044, "referenceAllele": "C", "start": 1043 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.910C>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Arg304Trp", "hgvsWellDefined": "ENSP00000361170.3:p.Arg304Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Arg279Trp", "hgvsWellDefined": "ENSP00000361176.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 1014, "referenceAllele": "C", "start": 1013 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.880C>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Arg294Trp", "hgvsWellDefined": "ENSP00000361182.3:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Arg293Trp", "hgvsWellDefined": "ENSP00000361187.3:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "T", "end": 578, "referenceAllele": "C", "start": 577 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.451C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Arg151Trp", "hgvsWellDefined": "ENSP00000410263.1:p.Arg151Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "C", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Arg290Trp", "hgvsWellDefined": "ENSP00000403655.1:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "T", "end": 911, "referenceAllele": "C", "start": 910 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.868C>T" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Arg290Trp", "hgvsWellDefined": "ENSP00000409718.1:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "T", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.919C>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Arg307Trp", "hgvsWellDefined": "ENSP00000408176.1:p.Arg307Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "T", "end": 897, "referenceAllele": "C", "start": 896 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.835C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg279Trp", "hgvsWellDefined": "ENSP00000407590.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*574C>T" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*574C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.526C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "T", "end": 200, "referenceAllele": "C", "start": 199 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000466231.1:n.200C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS309653" }, { "coordinates": [ { "allele": "T", "end": 229, "referenceAllele": "C", "start": 228 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Arg77Trp", "hgvsWellDefined": "ENSP00000435889.1:p.Arg77Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "T", "end": 763, "referenceAllele": "C", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.*164C>T" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:n.*164C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "T", "end": 882, "referenceAllele": "C", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*648C>T" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*648C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "C", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*648C>T" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*648C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "T", "end": 213, "endIntronDirection": "+", "endIntronOffset": 583, "referenceAllele": "C", "start": 213, "startIntronDirection": "+", "startIntronOffset": 582 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.187+583C>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.187+583C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "C", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.877C>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Arg293Trp", "hgvsWellDefined": "ENSP00000433130.2:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 99, "referenceAllele": "C", "start": 98 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.99C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "T", "end": 422, "endIntronDirection": "+", "endIntronOffset": 583, "referenceAllele": "C", "start": 422, "startIntronDirection": "+", "startIntronOffset": 582 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.187+583C>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.187+583C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "+", "endIntronOffset": 2211, "referenceAllele": "C", "start": 309, "startIntronDirection": "+", "startIntronOffset": 2210 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+2211C>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+2211C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.464C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.464C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.877C>T" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Arg293Trp", "hgvsWellDefined": "NP_001041636.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428263", "coordinates": [ { "allele": "T", "end": 984, "referenceAllele": "C", "start": 983 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.838C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg280Trp", "hgvsWellDefined": "NP_001041637.1:p.Arg280Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429875", "coordinates": [ { "allele": "T", "end": 981, "referenceAllele": "C", "start": 980 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg279Trp", "hgvsWellDefined": "NP_001041638.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431481", "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "C", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg279Trp", "hgvsWellDefined": "NP_001041639.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA194730", "coordinates": [ { "allele": "T", "end": 1135, "referenceAllele": "C", "start": 1134 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.919C>T", "LRG_220t1:c.919C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg307Trp", "hgvsWellDefined": "NP_001121897.1:p.Arg307Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823920", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.880C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg294Trp", "hgvsWellDefined": "NP_001280119.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825564", "coordinates": [ { "allele": "T", "end": 933, "referenceAllele": "C", "start": 932 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg290Trp", "hgvsWellDefined": "NP_001280120.1:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826890", "coordinates": [ { "allele": "T", "end": 1029, "referenceAllele": "C", "start": 1028 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.559C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg187Trp", "hgvsWellDefined": "NP_001280121.1:p.Arg187Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828499", "coordinates": [ { "allele": "T", "end": 1050, "referenceAllele": "C", "start": 1049 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg279Trp", "hgvsWellDefined": "NP_001280124.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829671", "coordinates": [ { "allele": "T", "end": 918, "referenceAllele": "C", "start": 917 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.559C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg187Trp", "hgvsWellDefined": "NP_001280125.1:p.Arg187Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726372", "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.910C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg304Trp", "hgvsWellDefined": "NP_036354.1:p.Arg304Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1198, "referenceAllele": "C", "start": 1197 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.895C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg299Trp", "hgvsWellDefined": "XP_011539799.1:p.Arg299Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "C", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539800.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539801.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 1133, "referenceAllele": "C", "start": 1132 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539802.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 1081, "referenceAllele": "C", "start": 1080 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539803.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 1114, "referenceAllele": "C", "start": 1113 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539804.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539805.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 990, "referenceAllele": "C", "start": 989 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg290Trp", "hgvsWellDefined": "XP_011539806.1:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 625, "referenceAllele": "C", "start": 624 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.457C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg153Trp", "hgvsWellDefined": "XP_011539807.1:p.Arg153Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 623, "referenceAllele": "C", "start": 622 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.457C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg153Trp", "hgvsWellDefined": "XP_011539808.1:p.Arg153Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 455, "referenceAllele": "C", "start": 454 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Arg150Trp", "hgvsWellDefined": "XP_011539809.1:p.Arg150Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.463C>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Arg155Trp", "hgvsWellDefined": "XP_011539810.1:p.Arg155Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 966, "referenceAllele": "C", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.966C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556847", "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg164Trp", "hgvsWellDefined": "NP_001337579.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558060", "coordinates": [ { "allele": "T", "end": 955, "referenceAllele": "C", "start": 954 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg164Trp", "hgvsWellDefined": "NP_001337580.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1093C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.907C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1193, "referenceAllele": "C", "start": 1192 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.895C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg299Trp", "hgvsWellDefined": "XP_011539799.1:p.Arg299Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 1171, "referenceAllele": "C", "start": 1170 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539802.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 1065, "referenceAllele": "C", "start": 1064 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539803.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 970, "referenceAllele": "C", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539804.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 938, "referenceAllele": "C", "start": 937 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.877C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg293Trp", "hgvsWellDefined": "XP_011539805.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 1019, "referenceAllele": "C", "start": 1018 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.868C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg290Trp", "hgvsWellDefined": "XP_011539806.1:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 639, "referenceAllele": "C", "start": 638 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.457C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg153Trp", "hgvsWellDefined": "XP_011539807.1:p.Arg153Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 681, "referenceAllele": "C", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.457C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg153Trp", "hgvsWellDefined": "XP_011539808.1:p.Arg153Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 969, "referenceAllele": "C", "start": 968 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Arg293Trp", "hgvsWellDefined": "XP_016856820.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Arg293Trp", "hgvsWellDefined": "XP_016856821.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 1024, "referenceAllele": "C", "start": 1023 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.877C>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Arg293Trp", "hgvsWellDefined": "XP_016856822.1:p.Arg293Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 917, "referenceAllele": "C", "start": 916 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.838C>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Arg280Trp", "hgvsWellDefined": "XP_016856823.1:p.Arg280Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.559C>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Arg187Trp", "hgvsWellDefined": "XP_016856824.1:p.Arg187Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "C", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Arg164Trp", "hgvsWellDefined": "XP_016856825.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 887, "referenceAllele": "C", "start": 886 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Arg164Trp", "hgvsWellDefined": "XP_016856826.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Arg164Trp", "hgvsWellDefined": "XP_024303012.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 857, "referenceAllele": "C", "start": 856 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Arg164Trp", "hgvsWellDefined": "XP_024303013.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 828, "referenceAllele": "C", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.448C>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Arg150Trp", "hgvsWellDefined": "XP_024303016.1:p.Arg150Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1180, "referenceAllele": "C", "start": 1179 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Arg107Trp", "hgvsWellDefined": "XP_024303017.1:p.Arg107Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1181, "referenceAllele": "C", "start": 1180 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Arg107Trp", "hgvsWellDefined": "XP_024303018.1:p.Arg107Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "C", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.319C>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Arg107Trp", "hgvsWellDefined": "XP_024303019.1:p.Arg107Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 880, "referenceAllele": "C", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.880C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 692, "referenceAllele": "C", "start": 691 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.692C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 872, "referenceAllele": "C", "start": 871 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.872C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1407, "referenceAllele": "C", "start": 1406 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1407C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 980, "referenceAllele": "C", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.980C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426649", "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Arg279Trp", "hgvsWellDefined": "NP_001041636.2:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA194730", "coordinates": [ { "allele": "T", "end": 1105, "referenceAllele": "C", "start": 1104 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.919C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg307Trp", "hgvsWellDefined": "NP_001121897.1:p.Arg307Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.919C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.919C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg307Trp" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg307Trp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428263", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.838C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg280Trp", "hgvsWellDefined": "NP_001041637.1:p.Arg280Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429875", "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg279Trp", "hgvsWellDefined": "NP_001041638.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431481", "coordinates": [ { "allele": "T", "end": 913, "referenceAllele": "C", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg279Trp", "hgvsWellDefined": "NP_001041639.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.835C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.835C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg279Trp" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg279Trp" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823920", "coordinates": [ { "allele": "T", "end": 1066, "referenceAllele": "C", "start": 1065 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.880C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg294Trp", "hgvsWellDefined": "NP_001280119.1:p.Arg294Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825564", "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.868C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg290Trp", "hgvsWellDefined": "NP_001280120.1:p.Arg290Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826890", "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.559C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg187Trp", "hgvsWellDefined": "NP_001280121.1:p.Arg187Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828499", "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.835C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg279Trp", "hgvsWellDefined": "NP_001280124.1:p.Arg279Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829671", "coordinates": [ { "allele": "T", "end": 922, "referenceAllele": "C", "start": 921 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.559C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg187Trp", "hgvsWellDefined": "NP_001280125.1:p.Arg187Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556847", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg164Trp", "hgvsWellDefined": "NP_001337579.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558060", "coordinates": [ { "allele": "T", "end": 925, "referenceAllele": "C", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.490C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg164Trp", "hgvsWellDefined": "NP_001337580.1:p.Arg164Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726372", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.910C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg304Trp", "hgvsWellDefined": "NP_036354.1:p.Arg304Trp" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 912, "referenceAllele": "C", "start": 911 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.912C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }