{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10577739", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.311T>A (p.Val104Asp)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232271[alleleid]", "alleleId": 232271, "preferredName": "NM_001048174.2(MUTYH):c.311T>A (p.Val104Asp)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234028", "RCV": [ "RCV000215292", "RCV000640366" ], "variationId": 234028 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798836A>T?assembly=hg19", "id": "chr1:g.45798836A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45333164A>T?assembly=hg38", "id": "chr1:g.45333164A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876660804", "rs": 876660804 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45333164, "referenceAllele": "A", "start": 45333163 } ], "hgvs": [ "NC_000001.11:g.45333164A>T", "CM000663.2:g.45333164A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45798836, "referenceAllele": "A", "start": 45798835 } ], "hgvs": [ "NC_000001.10:g.45798836A>T", "CM000663.1:g.45798836A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45571423, "referenceAllele": "A", "start": 45571422 } ], "hgvs": [ "NC_000001.9:g.45571423A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 12307, "referenceAllele": "T", "start": 12306 } ], "hgvs": [ "NG_008189.1:g.12307T>A", "LRG_220:g.12307T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 163, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-330T>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.344T>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Val115Asp", "hgvsWellDefined": "ENSP00000403655.2:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Val104Asp", "hgvsWellDefined": "ENSP00000435889.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 835, "referenceAllele": "T", "start": 834 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.329T>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Val110Asp", "hgvsWellDefined": "ENSP00000436469.2:p.Val110Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "T", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Val104Asp", "hgvsWellDefined": "ENSP00000431264.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 514, "referenceAllele": "T", "start": 513 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.353T>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Val118Asp", "hgvsWellDefined": "ENSP00000432528.2:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 476, "referenceAllele": "T", "start": 121, "startIntronDirection": "-", "startIntronOffset": 477 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.116-477T>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.116-477T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "T", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Val104Asp", "hgvsWellDefined": "ENSP00000500828.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "T", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*223T>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*223T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "T", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Val132Asp", "hgvsWellDefined": "ENSP00000518552.2:p.Val132Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.395T>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.395T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val132Asp" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val132Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.386T>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val129Asp", "hgvsWellDefined": "ENSP00000500891.1:p.Val129Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 533, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 533, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.388+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:n.388+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val104Asp", "hgvsWellDefined": "ENSP00000407590.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.311T>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.311T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val104Asp" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val104Asp" } } } }, { "coordinates": [ { "allele": "A", "end": 442, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 442, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*117+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*117+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 324, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 324, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.324+121T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 1289, "referenceAllele": "T", "start": 1288 } ], "hgvs": [ "ENST00000671898.1:c.899T>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Val300Asp", "hgvsWellDefined": "ENSP00000499896.1:p.Val300Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 985, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 985, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.346+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.346+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1441, "referenceAllele": "T", "start": 1440 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Val104Asp", "hgvsWellDefined": "ENSP00000500828.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "T", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*124T>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*124T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 452, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 452, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.337+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.337+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.386T>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Val129Asp", "hgvsWellDefined": "ENSP00000500891.1:p.Val129Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 282, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 282, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*117+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*117+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "T", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.339T>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.339T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "T", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.314T>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Val105Asp", "hgvsWellDefined": "ENSP00000346354.6:p.Val105Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "T", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Val104Asp", "hgvsWellDefined": "ENSP00000347685.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.386T>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Val129Asp", "hgvsWellDefined": "ENSP00000361170.3:p.Val129Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 504, "referenceAllele": "T", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Val104Asp", "hgvsWellDefined": "ENSP00000361176.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 490, "referenceAllele": "T", "start": 489 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.356T>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Val119Asp", "hgvsWellDefined": "ENSP00000361182.3:p.Val119Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "T", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.353T>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Val118Asp", "hgvsWellDefined": "ENSP00000361187.3:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 163, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.37-330T>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:n.37-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "T", "start": 374 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.344T>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Val115Asp", "hgvsWellDefined": "ENSP00000403655.1:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "A", "end": 387, "referenceAllele": "T", "start": 386 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.344T>A" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Val115Asp", "hgvsWellDefined": "ENSP00000409718.1:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "T", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.395T>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Val132Asp", "hgvsWellDefined": "ENSP00000408176.1:p.Val132Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 373, "referenceAllele": "T", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.311T>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Val104Asp", "hgvsWellDefined": "ENSP00000407590.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "A", "end": 443, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 443, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*117+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*117+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "T", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462387.5:n.496T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306656" }, { "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "T", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.*234T>A" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:n.*234T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "A", "end": 348, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 348, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.307+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:n.307+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000474703.1:n.466T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316152" }, { "coordinates": [ { "allele": "A", "end": 358, "referenceAllele": "T", "start": 357 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*124T>A" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*124T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "A", "end": 531, "referenceAllele": "T", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000476789.5:n.531T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317757" }, { "coordinates": [ { "allele": "A", "end": 161, "referenceAllele": "T", "start": 160 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000478796.5:n.161T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319320" }, { "coordinates": [ { "allele": "A", "end": 374, "referenceAllele": "T", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000479746.6:n.374T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320050" }, { "coordinates": [ { "allele": "A", "end": 564, "referenceAllele": "T", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481139.5:n.564T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321134" }, { "coordinates": [ { "allele": "A", "end": 423, "referenceAllele": "T", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*124T>A" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*124T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "A", "end": 606, "referenceAllele": "T", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.606T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "T", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485484.5:n.475T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324499" }, { "coordinates": [ { "allele": "A", "end": 141, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 141, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.116-330T>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.116-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 488, "referenceAllele": "T", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.488T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "A", "end": 357, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 357, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*29+121T>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*29+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 407, "referenceAllele": "T", "start": 406 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.353T>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Val118Asp", "hgvsWellDefined": "ENSP00000433130.2:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 350, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 350, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.116-330T>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.116-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1227, "referenceAllele": "T", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1226 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1227T>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1227T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 121, "endIntronDirection": "-", "endIntronOffset": 476, "referenceAllele": "T", "start": 121, "startIntronDirection": "-", "startIntronOffset": 477 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.122-477T>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.122-477T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "T", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.353T>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Val118Asp", "hgvsWellDefined": "NP_001041636.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427721", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "T", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.314T>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val105Asp", "hgvsWellDefined": "NP_001041637.1:p.Val105Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429332", "coordinates": [ { "allele": "A", "end": 457, "referenceAllele": "T", "start": 456 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val104Asp", "hgvsWellDefined": "NP_001041638.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825430942", "coordinates": [ { "allele": "A", "end": 376, "referenceAllele": "T", "start": 375 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val104Asp", "hgvsWellDefined": "NP_001041639.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645452160", "coordinates": [ { "allele": "A", "end": 611, "referenceAllele": "T", "start": 610 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.395T>A", "LRG_220t1:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val132Asp", "hgvsWellDefined": "NP_001121897.1:p.Val132Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823381", "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.356T>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val119Asp", "hgvsWellDefined": "NP_001280119.1:p.Val119Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825021", "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "T", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.344T>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Val115Asp", "hgvsWellDefined": "NP_001280120.1:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826354", "coordinates": [ { "allele": "A", "end": 505, "referenceAllele": "T", "start": 504 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.35T>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Val12Asp", "hgvsWellDefined": "NP_001280121.1:p.Val12Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826827957", "coordinates": [ { "allele": "A", "end": 526, "referenceAllele": "T", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Val104Asp", "hgvsWellDefined": "NP_001280124.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829286", "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "T", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.35T>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Val12Asp", "hgvsWellDefined": "NP_001280125.1:p.Val12Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829725835", "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "T", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.386T>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Val129Asp", "hgvsWellDefined": "NP_036354.1:p.Val129Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 674, "referenceAllele": "T", "start": 673 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.371T>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Val124Asp", "hgvsWellDefined": "XP_011539799.1:p.Val124Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "T", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Val118Asp", "hgvsWellDefined": "XP_011539800.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 432, "referenceAllele": "T", "start": 431 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Val118Asp", "hgvsWellDefined": "XP_011539801.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 609, "referenceAllele": "T", "start": 608 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Val118Asp", "hgvsWellDefined": "XP_011539802.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "T", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Val118Asp", "hgvsWellDefined": "XP_011539803.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 590, "referenceAllele": "T", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Val118Asp", "hgvsWellDefined": "XP_011539804.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "T", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.395T>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Val132Asp", "hgvsWellDefined": "XP_011539805.1:p.Val132Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 466, "referenceAllele": "T", "start": 465 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.344T>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Val115Asp", "hgvsWellDefined": "XP_011539806.1:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 210, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 210, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.43-330T>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 208, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 208, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.43-330T>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 40, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 40, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "XP_011539809.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "A", "end": 31, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 31, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.6+121T>A" ], "proteinEffect": { "hgvs": "XP_011539810.1:n.6+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "A", "end": 442, "referenceAllele": "T", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.442T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "A", "end": 562, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 562, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "A", "end": 498, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 498, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 569, "referenceAllele": "T", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.569T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 450, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 450, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.450+121T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 669, "referenceAllele": "T", "start": 668 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.371T>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Val124Asp", "hgvsWellDefined": "XP_011539799.1:p.Val124Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 647, "referenceAllele": "T", "start": 646 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Val118Asp", "hgvsWellDefined": "XP_011539802.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 541, "referenceAllele": "T", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Val118Asp", "hgvsWellDefined": "XP_011539803.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "T", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.353T>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Val118Asp", "hgvsWellDefined": "XP_011539804.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "T", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.395T>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Val132Asp", "hgvsWellDefined": "XP_011539805.1:p.Val132Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 495, "referenceAllele": "T", "start": 494 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.344T>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Val115Asp", "hgvsWellDefined": "XP_011539806.1:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 224, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 224, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.43-330T>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.43-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 266, "endIntronDirection": "-", "endIntronOffset": 329, "referenceAllele": "T", "start": 266, "startIntronDirection": "-", "startIntronOffset": 330 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.43-330T>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.43-330T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 445, "referenceAllele": "T", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Val118Asp", "hgvsWellDefined": "XP_016856820.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 447, "referenceAllele": "T", "start": 446 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Val118Asp", "hgvsWellDefined": "XP_016856821.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 500, "referenceAllele": "T", "start": 499 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.353T>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Val118Asp", "hgvsWellDefined": "XP_016856822.1:p.Val118Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 393, "referenceAllele": "T", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.314T>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Val105Asp", "hgvsWellDefined": "XP_016856823.1:p.Val105Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 339, "referenceAllele": "T", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.35T>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Val12Asp", "hgvsWellDefined": "XP_016856824.1:p.Val12Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 490, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 490, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 430, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 430, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 455, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 455, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 400, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 400, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 413, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 413, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.33+121T>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "T", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-343T>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-343T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 520, "referenceAllele": "T", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-343T>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-343T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 275, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 275, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-222+121T>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-222+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 356, "referenceAllele": "T", "start": 355 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.356T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 277, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.277+121T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 457, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 457, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.457+121T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 663, "referenceAllele": "T", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.663T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 456, "referenceAllele": "T", "start": 455 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.456T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426111", "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "T", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Val104Asp", "hgvsWellDefined": "NP_001041636.2:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645452160", "coordinates": [ { "allele": "A", "end": 581, "referenceAllele": "T", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.395T>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Val132Asp", "hgvsWellDefined": "NP_001121897.1:p.Val132Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.395T>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.395T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Val132Asp" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Val132Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427721", "coordinates": [ { "allele": "A", "end": 465, "referenceAllele": "T", "start": 464 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.314T>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Val105Asp", "hgvsWellDefined": "NP_001041637.1:p.Val105Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429332", "coordinates": [ { "allele": "A", "end": 462, "referenceAllele": "T", "start": 461 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Val104Asp", "hgvsWellDefined": "NP_001041638.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825430942", "coordinates": [ { "allele": "A", "end": 389, "referenceAllele": "T", "start": 388 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Val104Asp", "hgvsWellDefined": "NP_001041639.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.311T>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.311T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Val104Asp" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Val104Asp" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823381", "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "T", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.356T>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Val119Asp", "hgvsWellDefined": "NP_001280119.1:p.Val119Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825021", "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "T", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.344T>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Val115Asp", "hgvsWellDefined": "NP_001280120.1:p.Val115Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826354", "coordinates": [ { "allele": "A", "end": 475, "referenceAllele": "T", "start": 474 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.35T>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Val12Asp", "hgvsWellDefined": "NP_001280121.1:p.Val12Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826827957", "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "T", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.311T>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Val104Asp", "hgvsWellDefined": "NP_001280124.1:p.Val104Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829286", "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "T", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.35T>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Val12Asp", "hgvsWellDefined": "NP_001280125.1:p.Val12Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "A", "end": 532, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 532, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.33+121T>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "A", "end": 468, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 468, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.33+121T>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.33+121T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829725835", "coordinates": [ { "allele": "A", "end": 572, "referenceAllele": "T", "start": 571 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.386T>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Val129Asp", "hgvsWellDefined": "NP_036354.1:p.Val129Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 539, "referenceAllele": "T", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.539T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 455, "endIntronDirection": "+", "endIntronOffset": 121, "referenceAllele": "T", "start": 455, "startIntronDirection": "+", "startIntronOffset": 120 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.455+121T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }