{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA013944", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.517A>G (p.Met173Val)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151845[alleleid]", "alleleId": 151845, "preferredName": "NM_001048174.2(MUTYH):c.517A>G (p.Met173Val)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142131", "RCV": [ "RCV000130971", "RCV003998085" ], "variationId": 142131 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798335T>C?assembly=hg19", "id": "chr1:g.45798335T>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332663T>C?assembly=hg38", "id": "chr1:g.45332663T>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587782258", "rs": 587782258 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332663-T-C?dataset=gnomad_r4", "id": "1-45332663-T-C", "variant": "1:45332663 T / C" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45332663, "referenceAllele": "T", "start": 45332662 } ], "hgvs": [ "NC_000001.11:g.45332663T>C", "CM000663.2:g.45332663T>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45798335, "referenceAllele": "T", "start": 45798334 } ], "hgvs": [ "NC_000001.10:g.45798335T>C", "CM000663.1:g.45798335T>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "C", "end": 45570922, "referenceAllele": "T", "start": 45570921 } ], "hgvs": [ "NC_000001.9:g.45570922T>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 12808, "referenceAllele": "A", "start": 12807 } ], "hgvs": [ "NG_008189.1:g.12808A>G", "LRG_220:g.12808A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 260, "referenceAllele": "A", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.133A>G" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Met45Val", "hgvsWellDefined": "ENSP00000410263.2:p.Met45Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "G", "end": 701, "referenceAllele": "A", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.550A>G" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Met184Val", "hgvsWellDefined": "ENSP00000403655.2:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "G", "end": 595, "referenceAllele": "A", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Met173Val", "hgvsWellDefined": "ENSP00000435889.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "G", "end": 1041, "referenceAllele": "A", "start": 1040 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.535A>G" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Met179Val", "hgvsWellDefined": "ENSP00000436469.2:p.Met179Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "G", "end": 569, "referenceAllele": "A", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Met173Val", "hgvsWellDefined": "ENSP00000431264.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "G", "end": 720, "referenceAllele": "A", "start": 719 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.559A>G" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Met187Val", "hgvsWellDefined": "ENSP00000432528.2:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "G", "end": 146, "referenceAllele": "A", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.140A>G" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:p.His47Arg", "hgvsWellDefined": "ENSP00000436430.2:p.His47Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "G", "end": 1647, "referenceAllele": "A", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Met173Val", "hgvsWellDefined": "ENSP00000500828.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "G", "end": 579, "referenceAllele": "A", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*429A>G" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*429A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "A", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.601A>G" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Met201Val", "hgvsWellDefined": "ENSP00000518552.2:p.Met201Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.601A>G" }, "RefSeq": { "hgvs": "NM_001128425.2:c.601A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Met201Val" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Met201Val" } } } }, { "coordinates": [ { "allele": "G", "end": 778, "referenceAllele": "A", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.592A>G" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Met198Val", "hgvsWellDefined": "ENSP00000500891.1:p.Met198Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "G", "end": 672, "referenceAllele": "A", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.527A>G" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.His176Arg", "hgvsWellDefined": "ENSP00000408176.2:p.His176Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "G", "end": 595, "referenceAllele": "A", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Met173Val", "hgvsWellDefined": "ENSP00000407590.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.517A>G" }, "RefSeq": { "hgvs": "NM_001048174.2:c.517A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Met173Val" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Met173Val" } } } }, { "coordinates": [ { "allele": "G", "end": 581, "referenceAllele": "A", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*256A>G" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*256A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "G", "end": 463, "referenceAllele": "A", "start": 462 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.463A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "G", "end": 1495, "referenceAllele": "A", "start": 1494 } ], "hgvs": [ "ENST00000671898.1:c.1105A>G" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Met369Val", "hgvsWellDefined": "ENSP00000499896.1:p.Met369Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "G", "end": 1124, "referenceAllele": "A", "start": 1123 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.485A>G" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.His162Arg", "hgvsWellDefined": "ENSP00000500418.1:p.His162Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "G", "end": 1647, "referenceAllele": "A", "start": 1646 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Met173Val", "hgvsWellDefined": "ENSP00000500828.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "G", "end": 989, "referenceAllele": "A", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*405A>G" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*405A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "G", "end": 591, "referenceAllele": "A", "start": 590 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.476A>G" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.His159Arg", "hgvsWellDefined": "ENSP00000500886.1:p.His159Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "G", "end": 726, "referenceAllele": "A", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.592A>G" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Met198Val", "hgvsWellDefined": "ENSP00000500891.1:p.Met198Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "G", "end": 379, "referenceAllele": "A", "start": 378 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*214A>G" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*214A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "G", "end": 545, "referenceAllele": "A", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.545A>G" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.545A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "G", "end": 631, "referenceAllele": "A", "start": 630 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.520A>G" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Met174Val", "hgvsWellDefined": "ENSP00000346354.6:p.Met174Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "G", "end": 663, "referenceAllele": "A", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Met173Val", "hgvsWellDefined": "ENSP00000347685.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "G", "end": 726, "referenceAllele": "A", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.592A>G" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Met198Val", "hgvsWellDefined": "ENSP00000361170.3:p.Met198Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "G", "end": 710, "referenceAllele": "A", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Met173Val", "hgvsWellDefined": "ENSP00000361176.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "G", "end": 696, "referenceAllele": "A", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.562A>G" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Met188Val", "hgvsWellDefined": "ENSP00000361182.3:p.Met188Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "A", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.559A>G" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Met187Val", "hgvsWellDefined": "ENSP00000361187.3:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "G", "end": 260, "referenceAllele": "A", "start": 259 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.133A>G" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Met45Val", "hgvsWellDefined": "ENSP00000410263.1:p.Met45Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "G", "end": 581, "referenceAllele": "A", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.550A>G" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Met184Val", "hgvsWellDefined": "ENSP00000403655.1:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "G", "end": 593, "referenceAllele": "A", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.550A>G" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Met184Val", "hgvsWellDefined": "ENSP00000409718.1:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.601A>G" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Met201Val", "hgvsWellDefined": "ENSP00000408176.1:p.Met201Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "G", "end": 579, "referenceAllele": "A", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.517A>G" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Met173Val", "hgvsWellDefined": "ENSP00000407590.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*256A>G" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*256A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "G", "end": 208, "referenceAllele": "A", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.208A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "G", "end": 711, "referenceAllele": "A", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.*440A>G" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:n.*440A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "G", "end": 445, "referenceAllele": "A", "start": 444 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.404A>G" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:p.His135Arg", "hgvsWellDefined": "ENSP00000434985.1:p.His135Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "G", "end": 564, "referenceAllele": "A", "start": 563 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*330A>G" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*330A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "G", "end": 504, "referenceAllele": "A", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000478796.5:n.504A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS319320" }, { "coordinates": [ { "allele": "G", "end": 875, "referenceAllele": "A", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000479746.6:n.875A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS320050" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*330A>G" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*330A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "G", "end": 1032, "referenceAllele": "A", "start": 1031 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.1032A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "G", "end": 213, "endIntronDirection": "+", "endIntronOffset": 100, "referenceAllele": "A", "start": 213, "startIntronDirection": "+", "startIntronOffset": 99 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.187+100A>G" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.187+100A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "G", "end": 914, "referenceAllele": "A", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.914A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "G", "end": 496, "referenceAllele": "A", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*168A>G" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*168A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "G", "end": 613, "referenceAllele": "A", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.559A>G" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Met187Val", "hgvsWellDefined": "ENSP00000433130.2:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "G", "end": 422, "endIntronDirection": "+", "endIntronOffset": 100, "referenceAllele": "A", "start": 422, "startIntronDirection": "+", "startIntronOffset": 99 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.187+100A>G" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.187+100A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "G", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1728, "referenceAllele": "A", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1727 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1728A>G" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1728A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "G", "end": 146, "referenceAllele": "A", "start": 145 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.146A>G" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:p.His49Arg", "hgvsWellDefined": "ENSP00000436430.1:p.His49Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "A", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.559A>G" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Met187Val", "hgvsWellDefined": "NP_001041636.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427928", "coordinates": [ { "allele": "G", "end": 666, "referenceAllele": "A", "start": 665 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.520A>G" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Met174Val", "hgvsWellDefined": "NP_001041637.1:p.Met174Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429540", "coordinates": [ { "allele": "G", "end": 663, "referenceAllele": "A", "start": 662 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Met173Val", "hgvsWellDefined": "NP_001041638.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431155", "coordinates": [ { "allele": "G", "end": 582, "referenceAllele": "A", "start": 581 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Met173Val", "hgvsWellDefined": "NP_001041639.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA167479", "coordinates": [ { "allele": "G", "end": 817, "referenceAllele": "A", "start": 816 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.601A>G", "LRG_220t1:c.601A>G" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Met201Val", "hgvsWellDefined": "NP_001121897.1:p.Met201Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823589", "coordinates": [ { "allele": "G", "end": 778, "referenceAllele": "A", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.562A>G" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Met188Val", "hgvsWellDefined": "NP_001280119.1:p.Met188Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825230", "coordinates": [ { "allele": "G", "end": 615, "referenceAllele": "A", "start": 614 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.550A>G" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Met184Val", "hgvsWellDefined": "NP_001280120.1:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826560", "coordinates": [ { "allele": "G", "end": 711, "referenceAllele": "A", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.241A>G" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Met81Val", "hgvsWellDefined": "NP_001280121.1:p.Met81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828167", "coordinates": [ { "allele": "G", "end": 732, "referenceAllele": "A", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Met173Val", "hgvsWellDefined": "NP_001280124.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA916018765", "coordinates": [ { "allele": "G", "end": 600, "referenceAllele": "A", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.241A>G" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Met81Val", "hgvsWellDefined": "NP_001280125.1:p.Met81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726044", "coordinates": [ { "allele": "G", "end": 808, "referenceAllele": "A", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.592A>G" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Met198Val", "hgvsWellDefined": "NP_036354.1:p.Met198Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "G", "end": 880, "referenceAllele": "A", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.577A>G" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Met193Val", "hgvsWellDefined": "XP_011539799.1:p.Met193Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "G", "end": 652, "referenceAllele": "A", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Met187Val", "hgvsWellDefined": "XP_011539800.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "G", "end": 638, "referenceAllele": "A", "start": 637 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Met187Val", "hgvsWellDefined": "XP_011539801.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "G", "end": 815, "referenceAllele": "A", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Met187Val", "hgvsWellDefined": "XP_011539802.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "G", "end": 763, "referenceAllele": "A", "start": 762 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Met187Val", "hgvsWellDefined": "XP_011539803.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "G", "end": 796, "referenceAllele": "A", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Met187Val", "hgvsWellDefined": "XP_011539804.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "G", "end": 606, "referenceAllele": "A", "start": 605 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Met187Val", "hgvsWellDefined": "XP_011539805.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "G", "end": 672, "referenceAllele": "A", "start": 671 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.550A>G" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Met184Val", "hgvsWellDefined": "XP_011539806.1:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "G", "end": 307, "referenceAllele": "A", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.139A>G" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Met47Val", "hgvsWellDefined": "XP_011539807.1:p.Met47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "G", "end": 305, "referenceAllele": "A", "start": 304 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.139A>G" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Met47Val", "hgvsWellDefined": "XP_011539808.1:p.Met47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "G", "end": 137, "referenceAllele": "A", "start": 136 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.130A>G" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Met44Val", "hgvsWellDefined": "XP_011539809.1:p.Met44Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "G", "end": 170, "referenceAllele": "A", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.145A>G" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Met49Val", "hgvsWellDefined": "XP_011539810.1:p.Met49Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "G", "end": 648, "referenceAllele": "A", "start": 647 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.648A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556514", "coordinates": [ { "allele": "G", "end": 701, "referenceAllele": "A", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.172A>G" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Met58Val", "hgvsWellDefined": "NP_001337579.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827557772", "coordinates": [ { "allele": "G", "end": 637, "referenceAllele": "A", "start": 636 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.172A>G" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Met58Val", "hgvsWellDefined": "NP_001337580.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "G", "end": 775, "referenceAllele": "A", "start": 774 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.775A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "G", "end": 589, "referenceAllele": "A", "start": 588 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.589A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "G", "end": 875, "referenceAllele": "A", "start": 874 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.577A>G" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Met193Val", "hgvsWellDefined": "XP_011539799.1:p.Met193Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "G", "end": 853, "referenceAllele": "A", "start": 852 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Met187Val", "hgvsWellDefined": "XP_011539802.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "G", "end": 747, "referenceAllele": "A", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Met187Val", "hgvsWellDefined": "XP_011539803.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "G", "end": 652, "referenceAllele": "A", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Met187Val", "hgvsWellDefined": "XP_011539804.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "G", "end": 620, "referenceAllele": "A", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.559A>G" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Met187Val", "hgvsWellDefined": "XP_011539805.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "G", "end": 701, "referenceAllele": "A", "start": 700 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.550A>G" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Met184Val", "hgvsWellDefined": "XP_011539806.1:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "G", "end": 321, "referenceAllele": "A", "start": 320 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.139A>G" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Met47Val", "hgvsWellDefined": "XP_011539807.1:p.Met47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "G", "end": 363, "referenceAllele": "A", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.139A>G" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Met47Val", "hgvsWellDefined": "XP_011539808.1:p.Met47Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "G", "end": 651, "referenceAllele": "A", "start": 650 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Met187Val", "hgvsWellDefined": "XP_016856820.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "G", "end": 653, "referenceAllele": "A", "start": 652 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Met187Val", "hgvsWellDefined": "XP_016856821.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "G", "end": 706, "referenceAllele": "A", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.559A>G" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Met187Val", "hgvsWellDefined": "XP_016856822.1:p.Met187Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "G", "end": 599, "referenceAllele": "A", "start": 598 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.520A>G" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Met174Val", "hgvsWellDefined": "XP_016856823.1:p.Met174Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "G", "end": 545, "referenceAllele": "A", "start": 544 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.241A>G" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Met81Val", "hgvsWellDefined": "XP_016856824.1:p.Met81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "G", "end": 629, "referenceAllele": "A", "start": 628 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.172A>G" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Met58Val", "hgvsWellDefined": "XP_016856825.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "G", "end": 569, "referenceAllele": "A", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.172A>G" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Met58Val", "hgvsWellDefined": "XP_016856826.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "A", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.172A>G" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Met58Val", "hgvsWellDefined": "XP_024303012.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "G", "end": 539, "referenceAllele": "A", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.172A>G" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Met58Val", "hgvsWellDefined": "XP_024303013.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "G", "end": 510, "referenceAllele": "A", "start": 509 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.130A>G" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Met44Val", "hgvsWellDefined": "XP_024303016.1:p.Met44Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "G", "end": 862, "referenceAllele": "A", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Met1Val", "hgvsWellDefined": "XP_024303017.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "G", "end": 863, "referenceAllele": "A", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Met1Val", "hgvsWellDefined": "XP_024303018.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "G", "end": 497, "referenceAllele": "A", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.1A>G" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Met1Val", "hgvsWellDefined": "XP_024303019.1:p.Met1Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "G", "end": 562, "referenceAllele": "A", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.562A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "G", "end": 374, "referenceAllele": "A", "start": 373 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.374A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "G", "end": 554, "referenceAllele": "A", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.554A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "G", "end": 1089, "referenceAllele": "A", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1089A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "G", "end": 662, "referenceAllele": "A", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.662A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426321", "coordinates": [ { "allele": "G", "end": 745, "referenceAllele": "A", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Met173Val", "hgvsWellDefined": "NP_001041636.2:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA167479", "coordinates": [ { "allele": "G", "end": 787, "referenceAllele": "A", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.601A>G" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Met201Val", "hgvsWellDefined": "NP_001121897.1:p.Met201Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.601A>G" }, "RefSeq": { "hgvs": "NM_001128425.2:c.601A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Met201Val" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Met201Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427928", "coordinates": [ { "allele": "G", "end": 671, "referenceAllele": "A", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.520A>G" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Met174Val", "hgvsWellDefined": "NP_001041637.1:p.Met174Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429540", "coordinates": [ { "allele": "G", "end": 668, "referenceAllele": "A", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Met173Val", "hgvsWellDefined": "NP_001041638.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431155", "coordinates": [ { "allele": "G", "end": 595, "referenceAllele": "A", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Met173Val", "hgvsWellDefined": "NP_001041639.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.517A>G" }, "RefSeq": { "hgvs": "NM_001048174.2:c.517A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Met173Val" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Met173Val" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823589", "coordinates": [ { "allele": "G", "end": 748, "referenceAllele": "A", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.562A>G" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Met188Val", "hgvsWellDefined": "NP_001280119.1:p.Met188Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825230", "coordinates": [ { "allele": "G", "end": 628, "referenceAllele": "A", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.550A>G" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Met184Val", "hgvsWellDefined": "NP_001280120.1:p.Met184Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826560", "coordinates": [ { "allele": "G", "end": 681, "referenceAllele": "A", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.241A>G" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Met81Val", "hgvsWellDefined": "NP_001280121.1:p.Met81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828167", "coordinates": [ { "allele": "G", "end": 745, "referenceAllele": "A", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.517A>G" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Met173Val", "hgvsWellDefined": "NP_001280124.1:p.Met173Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA916018765", "coordinates": [ { "allele": "G", "end": 604, "referenceAllele": "A", "start": 603 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.241A>G" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Met81Val", "hgvsWellDefined": "NP_001280125.1:p.Met81Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556514", "coordinates": [ { "allele": "G", "end": 671, "referenceAllele": "A", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.172A>G" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Met58Val", "hgvsWellDefined": "NP_001337579.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827557772", "coordinates": [ { "allele": "G", "end": 607, "referenceAllele": "A", "start": 606 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.172A>G" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Met58Val", "hgvsWellDefined": "NP_001337580.1:p.Met58Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726044", "coordinates": [ { "allele": "G", "end": 778, "referenceAllele": "A", "start": 777 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.592A>G" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Met198Val", "hgvsWellDefined": "NP_036354.1:p.Met198Val" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "G", "end": 745, "referenceAllele": "A", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.745A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "G", "end": 594, "referenceAllele": "A", "start": 593 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.594A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }