{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA058824", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=391324[alleleid]", "alleleId": 391324, "preferredName": "NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406859", "RCV": [ "RCV000468855", "RCV000565823", "RCV001356323" ], "variationId": 406859 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45798133-C-T", "id": "1-45798133-C-T", "variant": "1:45798133 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45798133C>T?assembly=hg19", "id": "chr1:g.45798133C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45332461C>T?assembly=hg38", "id": "chr1:g.45332461C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/774237159", "rs": 774237159 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45798133-C-T?dataset=gnomad_r2_1", "id": "1-45798133-C-T", "variant": "1:45798133 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332461-C-T?dataset=gnomad_r3", "id": "1-45332461-C-T", "variant": "1:45332461 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45332461-C-T?dataset=gnomad_r4", "id": "1-45332461-C-T", "variant": "1:45332461 C / T" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45332461, "referenceAllele": "C", "start": 45332460 } ], "hgvs": [ "NC_000001.11:g.45332461C>T", "CM000663.2:g.45332461C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45798133, "referenceAllele": "C", "start": 45798132 } ], "hgvs": [ "NC_000001.10:g.45798133C>T", "CM000663.1:g.45798133C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 45570720, "referenceAllele": "C", "start": 45570719 } ], "hgvs": [ "NC_000001.9:g.45570720C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 13010, "referenceAllele": "G", "start": 13009 } ], "hgvs": [ "NG_008189.1:g.13010G>A", "LRG_220:g.13010G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.250G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Ala84Thr", "hgvsWellDefined": "ENSP00000410263.2:p.Ala84Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.667G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Ala223Thr", "hgvsWellDefined": "ENSP00000403655.2:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "G", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Ala212Thr", "hgvsWellDefined": "ENSP00000435889.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "A", "end": 1158, "referenceAllele": "G", "start": 1157 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.652G>A" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Ala218Thr", "hgvsWellDefined": "ENSP00000436469.2:p.Ala218Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Ala212Thr", "hgvsWellDefined": "ENSP00000431264.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "A", "end": 837, "referenceAllele": "G", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:p.Ala226Thr", "hgvsWellDefined": "ENSP00000432528.2:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "G", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.257G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:p.Ser86Asn", "hgvsWellDefined": "ENSP00000436430.2:p.Ser86Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Ala212Thr", "hgvsWellDefined": "ENSP00000500828.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "G", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.2:c.*546G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.2:n.*546G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS914455" }, { "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "G", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.718G>A" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Ala240Thr", "hgvsWellDefined": "ENSP00000518552.2:p.Ala240Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.718G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.718G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Ala240Thr" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Ala240Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.709G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Ala237Thr", "hgvsWellDefined": "ENSP00000500891.1:p.Ala237Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.6:c.644G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.2:p.Ser215Asn", "hgvsWellDefined": "ENSP00000408176.2:p.Ser215Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS756282" }, { "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "G", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Ala212Thr", "hgvsWellDefined": "ENSP00000407590.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.634G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.634G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Ala212Thr" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Ala212Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.6:c.*373G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*373G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS756715" }, { "coordinates": [ { "allele": "A", "end": 1612, "referenceAllele": "G", "start": 1611 } ], "hgvs": [ "ENST00000671898.1:c.1222G>A" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Ala408Thr", "hgvsWellDefined": "ENSP00000499896.1:p.Ala408Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "A", "end": 1241, "referenceAllele": "G", "start": 1240 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.602G>A" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:p.Ser201Asn", "hgvsWellDefined": "ENSP00000500418.1:p.Ser201Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "A", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Ala212Thr", "hgvsWellDefined": "ENSP00000500828.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "G", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*607G>A" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*607G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "A", "end": 708, "referenceAllele": "G", "start": 707 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.593G>A" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:p.Ser198Asn", "hgvsWellDefined": "ENSP00000500886.1:p.Ser198Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.709G>A" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Ala237Thr", "hgvsWellDefined": "ENSP00000500891.1:p.Ala237Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "A", "end": 496, "referenceAllele": "G", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*331G>A" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*331G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000674679.1:c.662G>A" ], "proteinEffect": { "hgvs": "ENSP00000501623.1:n.662G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774613" }, { "coordinates": [ { "allele": "A", "end": 748, "referenceAllele": "G", "start": 747 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.637G>A" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Ala213Thr", "hgvsWellDefined": "ENSP00000346354.6:p.Ala213Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "G", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Ala212Thr", "hgvsWellDefined": "ENSP00000347685.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.709G>A" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Ala237Thr", "hgvsWellDefined": "ENSP00000361170.3:p.Ala237Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "A", "end": 827, "referenceAllele": "G", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Ala212Thr", "hgvsWellDefined": "ENSP00000361176.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "A", "end": 813, "referenceAllele": "G", "start": 812 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.679G>A" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Ala227Thr", "hgvsWellDefined": "ENSP00000361182.3:p.Ala227Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Ala226Thr", "hgvsWellDefined": "ENSP00000361187.3:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.250G>A" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Ala84Thr", "hgvsWellDefined": "ENSP00000410263.1:p.Ala84Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "A", "end": 698, "referenceAllele": "G", "start": 697 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.1:c.667G>A" ], "proteinEffect": { "hgvs": "ENSP00000403655.1:p.Ala223Thr", "hgvsWellDefined": "ENSP00000403655.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247282" }, { "coordinates": [ { "allele": "A", "end": 710, "referenceAllele": "G", "start": 709 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.667G>A" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Ala223Thr", "hgvsWellDefined": "ENSP00000409718.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.718G>A" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Ala240Thr", "hgvsWellDefined": "ENSP00000408176.1:p.Ala240Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "A", "end": 696, "referenceAllele": "G", "start": 695 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.634G>A" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Ala212Thr", "hgvsWellDefined": "ENSP00000407590.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000461495.5:c.*373G>A" ], "proteinEffect": { "hgvs": "ENSP00000437166.1:n.*373G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS305992" }, { "coordinates": [ { "allele": "A", "end": 325, "referenceAllele": "G", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.325G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "A", "end": 28, "referenceAllele": "G", "start": 27 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.28G>A" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Ala10Thr", "hgvsWellDefined": "ENSP00000435889.1:p.Ala10Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467940.5:c.*557G>A" ], "proteinEffect": { "hgvs": "ENSP00000436478.1:n.*557G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS310975" }, { "coordinates": [ { "allele": "A", "end": 562, "referenceAllele": "G", "start": 561 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000470256.5:c.521G>A" ], "proteinEffect": { "hgvs": "ENSP00000434985.1:p.Ser174Asn", "hgvsWellDefined": "ENSP00000434985.1:p.Ser174Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS312738" }, { "coordinates": [ { "allele": "A", "end": 681, "referenceAllele": "G", "start": 680 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*447G>A" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*447G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "A", "end": 621, "referenceAllele": "G", "start": 620 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000478796.5:n.621G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319320" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*447G>A" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*447G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "A", "end": 213, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "G", "start": 213, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.187+302G>A" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.187+302G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "A", "end": 613, "referenceAllele": "G", "start": 612 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000525160.5:c.*285G>A" ], "proteinEffect": { "hgvs": "ENSP00000431568.1:n.*285G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS351225" }, { "coordinates": [ { "allele": "A", "end": 730, "referenceAllele": "G", "start": 729 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.676G>A" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Ala226Thr", "hgvsWellDefined": "ENSP00000433130.2:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "A", "end": 422, "endIntronDirection": "+", "endIntronOffset": 302, "referenceAllele": "G", "start": 422, "startIntronDirection": "+", "startIntronOffset": 301 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.187+302G>A" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.187+302G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "A", "end": 309, "endIntronDirection": "+", "endIntronOffset": 1930, "referenceAllele": "G", "start": 309, "startIntronDirection": "+", "startIntronOffset": 1929 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.115+1930G>A" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.115+1930G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "A", "end": 263, "referenceAllele": "G", "start": 262 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.263G>A" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:p.Ser88Asn", "hgvsWellDefined": "ENSP00000436430.1:p.Ser88Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.676G>A" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Ala226Thr", "hgvsWellDefined": "NP_001041636.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428051", "coordinates": [ { "allele": "A", "end": 783, "referenceAllele": "G", "start": 782 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.637G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Ala213Thr", "hgvsWellDefined": "NP_001041637.1:p.Ala213Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825429661", "coordinates": [ { "allele": "A", "end": 780, "referenceAllele": "G", "start": 779 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Ala212Thr", "hgvsWellDefined": "NP_001041638.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431274", "coordinates": [ { "allele": "A", "end": 699, "referenceAllele": "G", "start": 698 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Ala212Thr", "hgvsWellDefined": "NP_001041639.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA645452895", "coordinates": [ { "allele": "A", "end": 934, "referenceAllele": "G", "start": 933 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.718G>A", "LRG_220t1:c.718G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Ala240Thr", "hgvsWellDefined": "NP_001121897.1:p.Ala240Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826823708", "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.679G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Ala227Thr", "hgvsWellDefined": "NP_001280119.1:p.Ala227Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825352", "coordinates": [ { "allele": "A", "end": 732, "referenceAllele": "G", "start": 731 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.667G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Ala223Thr", "hgvsWellDefined": "NP_001280120.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826826681", "coordinates": [ { "allele": "A", "end": 828, "referenceAllele": "G", "start": 827 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.358G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Ala120Thr", "hgvsWellDefined": "NP_001280121.1:p.Ala120Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828287", "coordinates": [ { "allele": "A", "end": 849, "referenceAllele": "G", "start": 848 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Ala212Thr", "hgvsWellDefined": "NP_001280124.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829463", "coordinates": [ { "allele": "A", "end": 717, "referenceAllele": "G", "start": 716 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.358G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Ala120Thr", "hgvsWellDefined": "NP_001280125.1:p.Ala120Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726162", "coordinates": [ { "allele": "A", "end": 925, "referenceAllele": "G", "start": 924 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.709G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Ala237Thr", "hgvsWellDefined": "NP_036354.1:p.Ala237Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "A", "end": 997, "referenceAllele": "G", "start": 996 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Ala232Thr", "hgvsWellDefined": "XP_011539799.1:p.Ala232Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539800.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "A", "end": 755, "referenceAllele": "G", "start": 754 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539801.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "A", "end": 932, "referenceAllele": "G", "start": 931 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539802.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "A", "end": 880, "referenceAllele": "G", "start": 879 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539803.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "A", "end": 913, "referenceAllele": "G", "start": 912 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539804.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "A", "end": 723, "referenceAllele": "G", "start": 722 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539805.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.667G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Ala223Thr", "hgvsWellDefined": "XP_011539806.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "A", "end": 424, "referenceAllele": "G", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.256G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Ala86Thr", "hgvsWellDefined": "XP_011539807.1:p.Ala86Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "A", "end": 422, "referenceAllele": "G", "start": 421 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.256G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Ala86Thr", "hgvsWellDefined": "XP_011539808.1:p.Ala86Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "A", "end": 254, "referenceAllele": "G", "start": 253 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.247G>A" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Ala83Thr", "hgvsWellDefined": "XP_011539809.1:p.Ala83Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "A", "end": 287, "referenceAllele": "G", "start": 286 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.262G>A" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Ala88Thr", "hgvsWellDefined": "XP_011539810.1:p.Ala88Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "A", "end": 765, "referenceAllele": "G", "start": 764 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.765G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827556636", "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.289G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Ala97Thr", "hgvsWellDefined": "NP_001337579.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA916030602", "coordinates": [ { "allele": "A", "end": 754, "referenceAllele": "G", "start": 753 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.289G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Ala97Thr", "hgvsWellDefined": "NP_001337580.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "A", "end": 892, "referenceAllele": "G", "start": 891 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.892G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "A", "end": 706, "referenceAllele": "G", "start": 705 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.706G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "A", "end": 992, "referenceAllele": "G", "start": 991 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.694G>A" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Ala232Thr", "hgvsWellDefined": "XP_011539799.1:p.Ala232Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "A", "end": 970, "referenceAllele": "G", "start": 969 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539802.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "A", "end": 864, "referenceAllele": "G", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539803.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539804.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "A", "end": 737, "referenceAllele": "G", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.676G>A" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Ala226Thr", "hgvsWellDefined": "XP_011539805.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "A", "end": 818, "referenceAllele": "G", "start": 817 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.667G>A" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Ala223Thr", "hgvsWellDefined": "XP_011539806.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.256G>A" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Ala86Thr", "hgvsWellDefined": "XP_011539807.1:p.Ala86Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "A", "end": 480, "referenceAllele": "G", "start": 479 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.256G>A" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Ala86Thr", "hgvsWellDefined": "XP_011539808.1:p.Ala86Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "A", "end": 768, "referenceAllele": "G", "start": 767 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Ala226Thr", "hgvsWellDefined": "XP_016856820.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "A", "end": 770, "referenceAllele": "G", "start": 769 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Ala226Thr", "hgvsWellDefined": "XP_016856821.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "A", "end": 823, "referenceAllele": "G", "start": 822 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.676G>A" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Ala226Thr", "hgvsWellDefined": "XP_016856822.1:p.Ala226Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "A", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.637G>A" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Ala213Thr", "hgvsWellDefined": "XP_016856823.1:p.Ala213Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "A", "end": 662, "referenceAllele": "G", "start": 661 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.358G>A" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Ala120Thr", "hgvsWellDefined": "XP_016856824.1:p.Ala120Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "A", "end": 746, "referenceAllele": "G", "start": 745 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.289G>A" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Ala97Thr", "hgvsWellDefined": "XP_016856825.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "A", "end": 686, "referenceAllele": "G", "start": 685 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.289G>A" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Ala97Thr", "hgvsWellDefined": "XP_016856826.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.289G>A" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Ala97Thr", "hgvsWellDefined": "XP_024303012.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "A", "end": 656, "referenceAllele": "G", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.289G>A" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Ala97Thr", "hgvsWellDefined": "XP_024303013.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "A", "end": 627, "referenceAllele": "G", "start": 626 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.247G>A" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Ala83Thr", "hgvsWellDefined": "XP_024303016.1:p.Ala83Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "A", "end": 979, "referenceAllele": "G", "start": 978 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.118G>A" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Ala40Thr", "hgvsWellDefined": "XP_024303017.1:p.Ala40Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "A", "end": 980, "referenceAllele": "G", "start": 979 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.118G>A" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Ala40Thr", "hgvsWellDefined": "XP_024303018.1:p.Ala40Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "A", "end": 614, "referenceAllele": "G", "start": 613 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.118G>A" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Ala40Thr", "hgvsWellDefined": "XP_024303019.1:p.Ala40Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "G", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.679G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "G", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.491G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "A", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.671G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "A", "end": 1206, "referenceAllele": "G", "start": 1205 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1206G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "A", "end": 779, "referenceAllele": "G", "start": 778 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.779G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426442", "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Ala212Thr", "hgvsWellDefined": "NP_001041636.2:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA645452895", "coordinates": [ { "allele": "A", "end": 904, "referenceAllele": "G", "start": 903 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.718G>A" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Ala240Thr", "hgvsWellDefined": "NP_001121897.1:p.Ala240Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.718G>A" }, "RefSeq": { "hgvs": "NM_001128425.2:c.718G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Ala240Thr" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Ala240Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428051", "coordinates": [ { "allele": "A", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.637G>A" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Ala213Thr", "hgvsWellDefined": "NP_001041637.1:p.Ala213Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825429661", "coordinates": [ { "allele": "A", "end": 785, "referenceAllele": "G", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Ala212Thr", "hgvsWellDefined": "NP_001041638.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431274", "coordinates": [ { "allele": "A", "end": 712, "referenceAllele": "G", "start": 711 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Ala212Thr", "hgvsWellDefined": "NP_001041639.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.634G>A" }, "RefSeq": { "hgvs": "NM_001048174.2:c.634G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Ala212Thr" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Ala212Thr" } } } }, { "@id": "http://reg.genome.network/allele/PA2826823708", "coordinates": [ { "allele": "A", "end": 865, "referenceAllele": "G", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.679G>A" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Ala227Thr", "hgvsWellDefined": "NP_001280119.1:p.Ala227Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825352", "coordinates": [ { "allele": "A", "end": 745, "referenceAllele": "G", "start": 744 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.667G>A" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Ala223Thr", "hgvsWellDefined": "NP_001280120.1:p.Ala223Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826826681", "coordinates": [ { "allele": "A", "end": 798, "referenceAllele": "G", "start": 797 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.358G>A" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Ala120Thr", "hgvsWellDefined": "NP_001280121.1:p.Ala120Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828287", "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.634G>A" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Ala212Thr", "hgvsWellDefined": "NP_001280124.1:p.Ala212Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829463", "coordinates": [ { "allele": "A", "end": 721, "referenceAllele": "G", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.358G>A" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Ala120Thr", "hgvsWellDefined": "NP_001280125.1:p.Ala120Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827556636", "coordinates": [ { "allele": "A", "end": 788, "referenceAllele": "G", "start": 787 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.289G>A" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Ala97Thr", "hgvsWellDefined": "NP_001337579.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA916030602", "coordinates": [ { "allele": "A", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.289G>A" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Ala97Thr", "hgvsWellDefined": "NP_001337580.1:p.Ala97Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726162", "coordinates": [ { "allele": "A", "end": 895, "referenceAllele": "G", "start": 894 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.709G>A" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Ala237Thr", "hgvsWellDefined": "NP_036354.1:p.Ala237Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "A", "end": 862, "referenceAllele": "G", "start": 861 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.862G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "A", "end": 711, "referenceAllele": "G", "start": 710 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.711G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }