{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10577750", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.61G>A (p.Gly21Arg)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=232290[alleleid]", "alleleId": 232290, "preferredName": "NM_001048174.2(MUTYH):c.61G>A (p.Gly21Arg)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/230749", "RCV": [ "RCV000213765", "RCV000456712" ], "variationId": 230749 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45800117C>T?assembly=hg19", "id": "chr1:g.45800117C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45334445C>T?assembly=hg38", "id": "chr1:g.45334445C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/876658745", "rs": 876658745 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45334445-C-T?dataset=gnomad_r4", "id": "1-45334445-C-T", "variant": "1:45334445 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45334445, "referenceAllele": "C", "start": 45334444 } ], "hgvs": [ "NC_000001.11:g.45334445C>T", "CM000663.2:g.45334445C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45800117, "referenceAllele": "C", "start": 45800116 } ], "hgvs": [ "NC_000001.10:g.45800117C>T", "CM000663.1:g.45800117C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45572704, "referenceAllele": "C", "start": 45572703 } ], "hgvs": [ "NC_000001.9:g.45572704C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 11026, "referenceAllele": "G", "start": 11025 } ], "hgvs": [ "NG_008189.1:g.11026G>A", "LRG_220:g.11026G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 1610, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 1611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.37-1611G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:n.37-1611G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000403655.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000435889.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.79G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Gly27Arg", "hgvsWellDefined": "ENSP00000436469.2:p.Gly27Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 113, "referenceAllele": "G", "start": 112 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000431264.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Gly35Arg", "hgvsWellDefined": "ENSP00000432528.2:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "G", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000436430.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000500828.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "G", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000501623.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Gly35Arg", "hgvsWellDefined": "ENSP00000518552.2:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.103G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.103G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Gly35Arg" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Gly35Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000500891.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 248, "referenceAllele": "G", "start": 247 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Gly35Arg", "hgvsWellDefined": "ENSP00000408176.2:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000407590.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.61G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.61G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Gly21Arg" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Gly21Arg" } } } }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "G", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000437166.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 81, "referenceAllele": "G", "start": 80 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000671856.1:n.81G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS773188" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "hgvs": [ "ENST00000671898.1:c.607G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Gly203Arg", "hgvsWellDefined": "ENSP00000499896.1:p.Gly203Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 742, "referenceAllele": "G", "start": 741 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000500418.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000500828.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 522, "referenceAllele": "G", "start": 521 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000500455.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 176, "referenceAllele": "G", "start": 175 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000500886.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000500891.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 103, "referenceAllele": "G", "start": 102 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000500526.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 33, "referenceAllele": "G", "start": 32 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.33G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:p.Lys11=" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Gly21Arg", "hgvsWellDefined": "ENSP00000346354.6:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000347685.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Gly35Arg", "hgvsWellDefined": "ENSP00000361170.3:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000361176.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Gly35Arg", "hgvsWellDefined": "ENSP00000361182.3:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Gly35Arg", "hgvsWellDefined": "ENSP00000361187.3:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 163, "endIntronDirection": "-", "endIntronOffset": 1610, "referenceAllele": "G", "start": 163, "startIntronDirection": "-", "startIntronOffset": 1611 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.37-1611G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:n.37-1611G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 92, "referenceAllele": "G", "start": 91 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000403655.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "A", "end": 104, "referenceAllele": "G", "start": 103 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000409718.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000408176.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 123, "referenceAllele": "G", "start": 122 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000407590.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000437166.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462387.5:n.281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306656" }, { "coordinates": [ { "allele": "A", "end": 252, "referenceAllele": "G", "start": 251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.119G>A" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:p.Arg40Lys", "hgvsWellDefined": "ENSP00000436478.1:p.Arg40Lys" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "A", "end": 102, "referenceAllele": "G", "start": 101 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000434985.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000474703.1:n.183G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS316152" }, { "coordinates": [ { "allele": "A", "end": 172, "referenceAllele": "G", "start": 171 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000433843.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "A", "end": 281, "referenceAllele": "G", "start": 280 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000476789.5:n.281G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS317757" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000479746.6:n.124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS320050" }, { "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "G", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481139.5:n.264G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS321134" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "G", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000436597.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "A", "end": 585, "referenceAllele": "G", "start": 584 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.1:c.79G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.1:p.Gly27Arg", "hgvsWellDefined": "ENSP00000436469.1:p.Gly27Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247227" }, { "coordinates": [ { "allele": "A", "end": 242, "referenceAllele": "G", "start": 241 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483642.5:n.242G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS323061" }, { "coordinates": [ { "allele": "A", "end": 111, "referenceAllele": "G", "start": 110 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485484.5:n.111G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS324499" }, { "coordinates": [ { "allele": "A", "end": 87, "referenceAllele": "G", "start": 86 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000432330.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 124, "referenceAllele": "G", "start": 123 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000492494.5:n.124G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS329864" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "G", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.103G>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:p.Gly35Arg", "hgvsWellDefined": "ENSP00000431568.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 115, "referenceAllele": "G", "start": 114 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Gly21Arg", "hgvsWellDefined": "ENSP00000433130.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000437093.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 255, "referenceAllele": "G", "start": 254 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.61G>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:p.Gly21Arg", "hgvsWellDefined": "ENSP00000431292.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 67, "referenceAllele": "G", "start": 66 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.67G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:p.Gly23Arg", "hgvsWellDefined": "ENSP00000436430.1:p.Gly23Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "A", "end": 327, "referenceAllele": "G", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000534453.1:n.327G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS359063" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.103G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Gly35Arg", "hgvsWellDefined": "NP_001041636.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825427473", "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Gly21Arg", "hgvsWellDefined": "NP_001041637.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429082", "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Gly21Arg", "hgvsWellDefined": "NP_001041638.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825430694", "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Gly21Arg", "hgvsWellDefined": "NP_001041639.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645451891", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.103G>A", "LRG_220t1:c.103G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Gly35Arg", "hgvsWellDefined": "NP_001121897.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823161", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.103G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Gly35Arg", "hgvsWellDefined": "NP_001280119.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826824742", "coordinates": [ { "allele": "A", "end": 126, "referenceAllele": "G", "start": 125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Gly21Arg", "hgvsWellDefined": "NP_001280120.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.-152G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.-152G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826827706", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Gly21Arg", "hgvsWellDefined": "NP_001280124.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "coordinates": [ { "allele": "A", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.-152G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.-152G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA916004163", "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.103G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Gly35Arg", "hgvsWellDefined": "NP_036354.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 382, "referenceAllele": "G", "start": 381 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.79G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Gly27Arg", "hgvsWellDefined": "XP_011539799.1:p.Gly27Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539800.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539801.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 317, "referenceAllele": "G", "start": 316 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539802.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 265, "referenceAllele": "G", "start": 264 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539803.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 298, "referenceAllele": "G", "start": 297 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539804.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.103G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Gly35Arg", "hgvsWellDefined": "XP_011539805.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539806.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 156, "referenceAllele": "G", "start": 155 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.-13G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.-13G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.-13G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.-13G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 150, "referenceAllele": "G", "start": 149 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.150G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.-211G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.-211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.-147G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.-147G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 319, "referenceAllele": "G", "start": 318 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.319G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 207, "referenceAllele": "G", "start": 206 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.207G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.79G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Gly27Arg", "hgvsWellDefined": "XP_011539799.1:p.Gly27Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 355, "referenceAllele": "G", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539802.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 249, "referenceAllele": "G", "start": 248 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539803.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539804.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.103G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Gly35Arg", "hgvsWellDefined": "XP_011539805.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.61G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Gly21Arg", "hgvsWellDefined": "XP_011539806.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.-13G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:n.-13G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.-13G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:n.-13G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Gly21Arg", "hgvsWellDefined": "XP_016856820.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Gly21Arg", "hgvsWellDefined": "XP_016856821.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 208, "referenceAllele": "G", "start": 207 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Gly21Arg", "hgvsWellDefined": "XP_016856822.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 140, "referenceAllele": "G", "start": 139 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.61G>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Gly21Arg", "hgvsWellDefined": "XP_016856823.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.-152G>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:n.-152G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 214, "referenceAllele": "G", "start": 213 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.-244G>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:n.-244G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.-244G>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:n.-244G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.-253G>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:n.-253G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 154, "referenceAllele": "G", "start": 153 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.-214G>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:n.-214G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.-211G>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:n.-211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 155, "referenceAllele": "G", "start": 154 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.-707G>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:n.-707G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 153, "referenceAllele": "G", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.-710G>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:n.-710G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 96, "referenceAllele": "G", "start": 95 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.-401G>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:n.-401G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 170, "referenceAllele": "G", "start": 169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.170G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 98, "referenceAllele": "G", "start": 97 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.98G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 278, "referenceAllele": "G", "start": 277 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.278G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 296, "referenceAllele": "G", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.296G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 164, "referenceAllele": "G", "start": 163 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.164G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825425860", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Gly21Arg", "hgvsWellDefined": "NP_001041636.2:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645451891", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.103G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Gly35Arg", "hgvsWellDefined": "NP_001121897.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.103G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.103G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Gly35Arg" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Gly35Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2825427473", "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Gly21Arg", "hgvsWellDefined": "NP_001041637.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429082", "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Gly21Arg", "hgvsWellDefined": "NP_001041638.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825430694", "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Gly21Arg", "hgvsWellDefined": "NP_001041639.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.61G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.61G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Gly21Arg" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Gly21Arg" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823161", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.103G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Gly35Arg", "hgvsWellDefined": "NP_001280119.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826824742", "coordinates": [ { "allele": "A", "end": 139, "referenceAllele": "G", "start": 138 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Gly21Arg", "hgvsWellDefined": "NP_001280120.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.-152G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:n.-152G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826827706", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.61G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Gly21Arg", "hgvsWellDefined": "NP_001280124.1:p.Gly21Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.-152G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:n.-152G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.-211G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:n.-211G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.-147G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:n.-147G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA916004163", "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.103G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Gly35Arg", "hgvsWellDefined": "NP_036354.1:p.Gly35Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 289, "referenceAllele": "G", "start": 288 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.289G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 212, "referenceAllele": "G", "start": 211 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.212G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }