{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA012086", "communityStandardTitle": [ "NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166273[alleleid]", "alleleId": 166273, "preferredName": "NM_001048174.2(MUTYH):c.1006C>T (p.Arg336Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156508", "RCV": [ "RCV000144629", "RCV000223437", "RCV000544801", "RCV001753521" ], "variationId": 156508 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-45797429-G-A", "id": "1-45797429-G-A", "variant": "1:45797429 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45797429G>A?assembly=hg19", "id": "chr1:g.45797429G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.45331757G>A?assembly=hg38", "id": "chr1:g.45331757G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/151316420", "rs": 151316420 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45797429-G-A?dataset=gnomad_r2_1", "id": "1-45797429-G-A", "variant": "1:45797429 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331757-G-A?dataset=gnomad_r3", "id": "1-45331757-G-A", "variant": "1:45331757 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-45331757-G-A?dataset=gnomad_r4", "id": "1-45331757-G-A", "variant": "1:45331757 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45331757, "referenceAllele": "G", "start": 45331756 } ], "hgvs": [ "NC_000001.11:g.45331757G>A", "CM000663.2:g.45331757G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45797429, "referenceAllele": "G", "start": 45797428 } ], "hgvs": [ "NC_000001.10:g.45797429G>A", "CM000663.1:g.45797429G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 45570016, "referenceAllele": "G", "start": 45570015 } ], "hgvs": [ "NC_000001.9:g.45570016G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 13714, "referenceAllele": "C", "start": 13713 } ], "hgvs": [ "NG_008189.1:g.13714C>T", "LRG_220:g.13714C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000931" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.6:c.622C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.2:p.Arg208Cys", "hgvsWellDefined": "ENSP00000410263.2:p.Arg208Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914025" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000435155.2:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000403655.2:p.Arg347Cys", "hgvsWellDefined": "ENSP00000403655.2:p.Arg347Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914061" }, { "coordinates": [ { "allele": "T", "end": 1107, "referenceAllele": "C", "start": 1106 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.6:c.1029C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.2:p.Ala343=" }, "referenceSequence": "http://reg.genome.network/refseq/RS914113" }, { "coordinates": [ { "allele": "T", "end": 1530, "referenceAllele": "C", "start": 1529 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000483127.2:c.1024C>T" ], "proteinEffect": { "hgvs": "ENSP00000436469.2:p.Arg342Cys", "hgvsWellDefined": "ENSP00000436469.2:p.Arg342Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914139" }, { "coordinates": [ { "allele": "T", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000485271.6:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000431264.2:p.Arg336Cys", "hgvsWellDefined": "ENSP00000431264.2:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914144" }, { "coordinates": [ { "allele": "T", "end": 1116, "endIntronDirection": "-", "endIntronOffset": 200, "referenceAllele": "C", "start": 1116, "startIntronDirection": "-", "startIntronOffset": 201 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.6:c.956-201C>T" ], "proteinEffect": { "hgvs": "ENSP00000432528.2:n.956-201C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914235" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.6:c.*335C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.2:n.*335C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914245" }, { "coordinates": [ { "allele": "T", "end": 2136, "referenceAllele": "C", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.2:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.2:p.Arg336Cys", "hgvsWellDefined": "ENSP00000500828.2:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914444" }, { "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000710952.2:c.1090C>T" ], "proteinEffect": { "hgvs": "ENSP00000518552.2:p.Arg364Cys", "hgvsWellDefined": "ENSP00000518552.2:p.Arg364Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS914573", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1090C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1090C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg364Cys" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg364Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.3:c.1081C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg361Cys", "hgvsWellDefined": "ENSP00000500891.1:p.Arg361Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS826866" }, { "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.7:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg336Cys", "hgvsWellDefined": "ENSP00000407590.2:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS756574", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1006C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1006C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg336Cys" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg336Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 1984, "referenceAllele": "C", "start": 1983 } ], "hgvs": [ "ENST00000671898.1:c.1594C>T" ], "proteinEffect": { "hgvs": "ENSP00000499896.1:p.Arg532Cys", "hgvsWellDefined": "ENSP00000499896.1:p.Arg532Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773205" }, { "coordinates": [ { "allele": "T", "end": 1613, "referenceAllele": "C", "start": 1612 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672011.1:c.*335C>T" ], "proteinEffect": { "hgvs": "ENSP00000500418.1:n.*335C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773239" }, { "coordinates": [ { "allele": "T", "end": 2136, "referenceAllele": "C", "start": 2135 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672314.1:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000500828.1:p.Arg336Cys", "hgvsWellDefined": "ENSP00000500828.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773342" }, { "coordinates": [ { "allele": "T", "end": 1816, "referenceAllele": "C", "start": 1815 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672593.1:c.*1232C>T" ], "proteinEffect": { "hgvs": "ENSP00000500455.1:n.*1232C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773427" }, { "coordinates": [ { "allele": "T", "end": 1080, "referenceAllele": "C", "start": 1079 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672764.1:c.*335C>T" ], "proteinEffect": { "hgvs": "ENSP00000500886.1:n.*335C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773483" }, { "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000672818.2:c.1081C>T" ], "proteinEffect": { "hgvs": "ENSP00000500891.1:p.Arg361Cys", "hgvsWellDefined": "ENSP00000500891.1:p.Arg361Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS773501" }, { "coordinates": [ { "allele": "T", "end": 868, "referenceAllele": "C", "start": 867 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000673134.1:c.*703C>T" ], "proteinEffect": { "hgvs": "ENSP00000500526.1:n.*703C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS773595" }, { "coordinates": [ { "allele": "T", "end": 1120, "referenceAllele": "C", "start": 1119 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000354383.10:c.1009C>T" ], "proteinEffect": { "hgvs": "ENSP00000346354.6:p.Arg337Cys", "hgvsWellDefined": "ENSP00000346354.6:p.Arg337Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247302" }, { "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000355498.6:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000347685.2:p.Arg336Cys", "hgvsWellDefined": "ENSP00000347685.2:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247152" }, { "coordinates": [ { "allele": "T", "end": 1215, "referenceAllele": "C", "start": 1214 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372098.7:c.1081C>T" ], "proteinEffect": { "hgvs": "ENSP00000361170.3:p.Arg361Cys", "hgvsWellDefined": "ENSP00000361170.3:p.Arg361Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247324" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372104.5:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000361176.1:p.Arg336Cys", "hgvsWellDefined": "ENSP00000361176.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247419" }, { "coordinates": [ { "allele": "T", "end": 1185, "referenceAllele": "C", "start": 1184 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372110.7:c.1051C>T" ], "proteinEffect": { "hgvs": "ENSP00000361182.3:p.Arg351Cys", "hgvsWellDefined": "ENSP00000361182.3:p.Arg351Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247212" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000372115.7:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000361187.3:p.Arg350Cys", "hgvsWellDefined": "ENSP00000361187.3:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247144" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000412971.5:c.622C>T" ], "proteinEffect": { "hgvs": "ENSP00000410263.1:p.Arg208Cys", "hgvsWellDefined": "ENSP00000410263.1:p.Arg208Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247381" }, { "coordinates": [ { "allele": "T", "end": 1082, "referenceAllele": "C", "start": 1081 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000448481.5:c.1039C>T" ], "proteinEffect": { "hgvs": "ENSP00000409718.1:p.Arg347Cys", "hgvsWellDefined": "ENSP00000409718.1:p.Arg347Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS246647" }, { "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000450313.5:c.1090C>T" ], "proteinEffect": { "hgvs": "ENSP00000408176.1:p.Arg364Cys", "hgvsWellDefined": "ENSP00000408176.1:p.Arg364Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247417" }, { "coordinates": [ { "allele": "T", "end": 1068, "referenceAllele": "C", "start": 1067 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000456914.6:c.1006C>T" ], "proteinEffect": { "hgvs": "ENSP00000407590.2:p.Arg336Cys", "hgvsWellDefined": "ENSP00000407590.2:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247236" }, { "coordinates": [ { "allele": "T", "end": 870, "referenceAllele": "C", "start": 869 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000462388.5:n.870C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS306657" }, { "coordinates": [ { "allele": "T", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000467459.5:c.423C>T" ], "proteinEffect": { "hgvs": "ENSP00000435889.1:p.Ala141=" }, "referenceSequence": "http://reg.genome.network/refseq/RS310589" }, { "coordinates": [ { "allele": "T", "end": 1053, "referenceAllele": "C", "start": 1052 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000475516.5:c.*819C>T" ], "proteinEffect": { "hgvs": "ENSP00000433843.1:n.*819C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS316785" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000481571.5:c.*819C>T" ], "proteinEffect": { "hgvs": "ENSP00000436597.1:n.*819C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS321455" }, { "coordinates": [ { "allele": "T", "end": 327, "referenceAllele": "C", "start": 326 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000482094.5:n.327C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS321874" }, { "coordinates": [ { "allele": "T", "end": 213, "endIntronDirection": "-", "endIntronOffset": 200, "referenceAllele": "C", "start": 213, "startIntronDirection": "-", "startIntronOffset": 201 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000488731.6:c.188-201C>T" ], "proteinEffect": { "hgvs": "ENSP00000432330.1:n.188-201C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247146" }, { "coordinates": [ { "allele": "T", "end": 1102, "referenceAllele": "C", "start": 1101 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000528013.6:c.1048C>T" ], "proteinEffect": { "hgvs": "ENSP00000433130.2:p.Arg350Cys", "hgvsWellDefined": "ENSP00000433130.2:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247200" }, { "coordinates": [ { "allele": "T", "end": 177, "endIntronDirection": "-", "endIntronOffset": 200, "referenceAllele": "C", "start": 177, "startIntronDirection": "-", "startIntronOffset": 201 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529892.5:c.178-201C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS247332" }, { "coordinates": [ { "allele": "T", "end": 422, "endIntronDirection": "-", "endIntronOffset": 200, "referenceAllele": "C", "start": 422, "startIntronDirection": "-", "startIntronOffset": 201 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000529984.5:c.188-201C>T" ], "proteinEffect": { "hgvs": "ENSP00000437093.1:n.188-201C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS247331" }, { "coordinates": [ { "allele": "T", "end": 309, "endIntronDirection": "-", "endIntronOffset": 2319, "referenceAllele": "C", "start": 309, "startIntronDirection": "-", "startIntronOffset": 2320 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000531105.5:c.116-2320C>T" ], "proteinEffect": { "hgvs": "ENSP00000431292.1:n.116-2320C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS246639" }, { "coordinates": [ { "allele": "T", "end": 635, "referenceAllele": "C", "start": 634 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "ENST00000533178.5:c.635C>T" ], "proteinEffect": { "hgvs": "ENSP00000436430.1:n.635C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS357989" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.1:c.1048C>T" ], "proteinEffect": { "hgvs": "NP_001041636.1:p.Arg350Cys", "hgvsWellDefined": "NP_001041636.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS009856" }, { "@id": "http://reg.genome.network/allele/PA2825428425", "coordinates": [ { "allele": "T", "end": 1155, "referenceAllele": "C", "start": 1154 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.1:c.1009C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg337Cys", "hgvsWellDefined": "NP_001041637.1:p.Arg337Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS009857" }, { "@id": "http://reg.genome.network/allele/PA2825430036", "coordinates": [ { "allele": "T", "end": 1152, "referenceAllele": "C", "start": 1151 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg336Cys", "hgvsWellDefined": "NP_001041638.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS009858" }, { "@id": "http://reg.genome.network/allele/PA2825431650", "coordinates": [ { "allele": "T", "end": 1071, "referenceAllele": "C", "start": 1070 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg336Cys", "hgvsWellDefined": "NP_001041639.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS009859" }, { "@id": "http://reg.genome.network/allele/PA250998", "coordinates": [ { "allele": "T", "end": 1306, "referenceAllele": "C", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.1:c.1090C>T", "LRG_220t1:c.1090C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg364Cys", "hgvsWellDefined": "NP_001121897.1:p.Arg364Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS011778" }, { "@id": "http://reg.genome.network/allele/PA2826824086", "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.1:c.1051C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg351Cys", "hgvsWellDefined": "NP_001280119.1:p.Arg351Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS024498" }, { "@id": "http://reg.genome.network/allele/PA2826825728", "coordinates": [ { "allele": "T", "end": 1104, "referenceAllele": "C", "start": 1103 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.1:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg347Cys", "hgvsWellDefined": "NP_001280120.1:p.Arg347Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS024499" }, { "@id": "http://reg.genome.network/allele/PA2826827056", "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg244Cys", "hgvsWellDefined": "NP_001280121.1:p.Arg244Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS024500" }, { "@id": "http://reg.genome.network/allele/PA2826828661", "coordinates": [ { "allele": "T", "end": 1221, "referenceAllele": "C", "start": 1220 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.1:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg336Cys", "hgvsWellDefined": "NP_001280124.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS024502" }, { "@id": "http://reg.genome.network/allele/PA2826829838", "coordinates": [ { "allele": "T", "end": 1089, "referenceAllele": "C", "start": 1088 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.1:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg244Cys", "hgvsWellDefined": "NP_001280125.1:p.Arg244Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS024503" }, { "@id": "http://reg.genome.network/allele/PA2829726536", "coordinates": [ { "allele": "T", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.2:c.1081C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg361Cys", "hgvsWellDefined": "NP_036354.1:p.Arg361Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS032407" }, { "coordinates": [ { "allele": "T", "end": 1369, "referenceAllele": "C", "start": 1368 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.1:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg356Cys", "hgvsWellDefined": "XP_011539799.1:p.Arg356Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108434" }, { "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "C", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541498.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539800.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539800.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108435" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541499.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539801.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539801.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108436" }, { "coordinates": [ { "allele": "T", "end": 1304, "referenceAllele": "C", "start": 1303 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539802.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108437" }, { "coordinates": [ { "allele": "T", "end": 1252, "referenceAllele": "C", "start": 1251 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539803.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108438" }, { "coordinates": [ { "allele": "T", "end": 1285, "referenceAllele": "C", "start": 1284 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539804.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108439" }, { "coordinates": [ { "allele": "T", "end": 1095, "referenceAllele": "C", "start": 1094 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539805.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108440" }, { "coordinates": [ { "allele": "T", "end": 1161, "referenceAllele": "C", "start": 1160 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.1:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg347Cys", "hgvsWellDefined": "XP_011539806.1:p.Arg347Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108441" }, { "coordinates": [ { "allele": "T", "end": 796, "referenceAllele": "C", "start": 795 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg210Cys", "hgvsWellDefined": "XP_011539807.1:p.Arg210Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108442" }, { "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.1:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg210Cys", "hgvsWellDefined": "XP_011539808.1:p.Arg210Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108443" }, { "coordinates": [ { "allele": "T", "end": 626, "referenceAllele": "C", "start": 625 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541507.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_011539809.1:p.Arg207Cys", "hgvsWellDefined": "XP_011539809.1:p.Arg207Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108444" }, { "coordinates": [ { "allele": "T", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541508.1:c.634C>T" ], "proteinEffect": { "hgvs": "XP_011539810.1:p.Arg212Cys", "hgvsWellDefined": "XP_011539810.1:p.Arg212Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS108445" }, { "coordinates": [ { "allele": "T", "end": 1137, "referenceAllele": "C", "start": 1136 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.1:n.1137C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS140241" }, { "@id": "http://reg.genome.network/allele/PA2827557010", "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.1:c.661C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg221Cys", "hgvsWellDefined": "NP_001337579.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS519533" }, { "@id": "http://reg.genome.network/allele/PA2827558223", "coordinates": [ { "allele": "T", "end": 1126, "referenceAllele": "C", "start": 1125 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.1:c.661C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg221Cys", "hgvsWellDefined": "NP_001337580.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS519534" }, { "coordinates": [ { "allele": "T", "end": 1264, "referenceAllele": "C", "start": 1263 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.1:n.1264C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530438" }, { "coordinates": [ { "allele": "T", "end": 1078, "referenceAllele": "C", "start": 1077 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.1:n.1078C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530439" }, { "coordinates": [ { "allele": "T", "end": 1364, "referenceAllele": "C", "start": 1363 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541497.3:c.1066C>T" ], "proteinEffect": { "hgvs": "XP_011539799.1:p.Arg356Cys", "hgvsWellDefined": "XP_011539799.1:p.Arg356Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554460" }, { "coordinates": [ { "allele": "T", "end": 1342, "referenceAllele": "C", "start": 1341 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541500.3:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539802.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539802.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554461" }, { "coordinates": [ { "allele": "T", "end": 1236, "referenceAllele": "C", "start": 1235 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541501.2:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539803.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539803.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554462" }, { "coordinates": [ { "allele": "T", "end": 1141, "referenceAllele": "C", "start": 1140 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541502.2:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539804.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539804.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554463" }, { "coordinates": [ { "allele": "T", "end": 1109, "referenceAllele": "C", "start": 1108 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541503.2:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_011539805.1:p.Arg350Cys", "hgvsWellDefined": "XP_011539805.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554464" }, { "coordinates": [ { "allele": "T", "end": 1190, "referenceAllele": "C", "start": 1189 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541504.2:c.1039C>T" ], "proteinEffect": { "hgvs": "XP_011539806.1:p.Arg347Cys", "hgvsWellDefined": "XP_011539806.1:p.Arg347Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554465" }, { "coordinates": [ { "allele": "T", "end": 810, "referenceAllele": "C", "start": 809 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541505.2:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011539807.1:p.Arg210Cys", "hgvsWellDefined": "XP_011539807.1:p.Arg210Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554466" }, { "coordinates": [ { "allele": "T", "end": 852, "referenceAllele": "C", "start": 851 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_011541506.2:c.628C>T" ], "proteinEffect": { "hgvs": "XP_011539808.1:p.Arg210Cys", "hgvsWellDefined": "XP_011539808.1:p.Arg210Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS554467" }, { "coordinates": [ { "allele": "T", "end": 1140, "referenceAllele": "C", "start": 1139 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001331.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_016856820.1:p.Arg350Cys", "hgvsWellDefined": "XP_016856820.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557533" }, { "coordinates": [ { "allele": "T", "end": 1142, "referenceAllele": "C", "start": 1141 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001332.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_016856821.1:p.Arg350Cys", "hgvsWellDefined": "XP_016856821.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557534" }, { "coordinates": [ { "allele": "T", "end": 1195, "referenceAllele": "C", "start": 1194 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001333.1:c.1048C>T" ], "proteinEffect": { "hgvs": "XP_016856822.1:p.Arg350Cys", "hgvsWellDefined": "XP_016856822.1:p.Arg350Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557535" }, { "coordinates": [ { "allele": "T", "end": 1088, "referenceAllele": "C", "start": 1087 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001334.1:c.1009C>T" ], "proteinEffect": { "hgvs": "XP_016856823.1:p.Arg337Cys", "hgvsWellDefined": "XP_016856823.1:p.Arg337Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557536" }, { "coordinates": [ { "allele": "T", "end": 1034, "referenceAllele": "C", "start": 1033 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001335.1:c.730C>T" ], "proteinEffect": { "hgvs": "XP_016856824.1:p.Arg244Cys", "hgvsWellDefined": "XP_016856824.1:p.Arg244Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557537" }, { "coordinates": [ { "allele": "T", "end": 1118, "referenceAllele": "C", "start": 1117 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001336.1:c.661C>T" ], "proteinEffect": { "hgvs": "XP_016856825.1:p.Arg221Cys", "hgvsWellDefined": "XP_016856825.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557538" }, { "coordinates": [ { "allele": "T", "end": 1058, "referenceAllele": "C", "start": 1057 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_017001337.1:c.661C>T" ], "proteinEffect": { "hgvs": "XP_016856826.1:p.Arg221Cys", "hgvsWellDefined": "XP_016856826.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS557539" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447244.1:c.661C>T" ], "proteinEffect": { "hgvs": "XP_024303012.1:p.Arg221Cys", "hgvsWellDefined": "XP_024303012.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580832" }, { "coordinates": [ { "allele": "T", "end": 1028, "referenceAllele": "C", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447245.1:c.661C>T" ], "proteinEffect": { "hgvs": "XP_024303013.1:p.Arg221Cys", "hgvsWellDefined": "XP_024303013.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580833" }, { "coordinates": [ { "allele": "T", "end": 999, "referenceAllele": "C", "start": 998 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447248.1:c.619C>T" ], "proteinEffect": { "hgvs": "XP_024303016.1:p.Arg207Cys", "hgvsWellDefined": "XP_024303016.1:p.Arg207Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580836" }, { "coordinates": [ { "allele": "T", "end": 1351, "referenceAllele": "C", "start": 1350 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447249.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_024303017.1:p.Arg164Cys", "hgvsWellDefined": "XP_024303017.1:p.Arg164Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580837" }, { "coordinates": [ { "allele": "T", "end": 1352, "referenceAllele": "C", "start": 1351 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447250.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_024303018.1:p.Arg164Cys", "hgvsWellDefined": "XP_024303018.1:p.Arg164Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580838" }, { "coordinates": [ { "allele": "T", "end": 986, "referenceAllele": "C", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XM_024447251.1:c.490C>T" ], "proteinEffect": { "hgvs": "XP_024303019.1:p.Arg164Cys", "hgvsWellDefined": "XP_024303019.1:p.Arg164Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS580839" }, { "coordinates": [ { "allele": "T", "end": 1051, "referenceAllele": "C", "start": 1050 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737190.1:n.1051C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587991" }, { "coordinates": [ { "allele": "T", "end": 863, "referenceAllele": "C", "start": 862 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_001737192.1:n.863C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS587992" }, { "coordinates": [ { "allele": "T", "end": 1043, "referenceAllele": "C", "start": 1042 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956643.1:n.1043C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602781" }, { "coordinates": [ { "allele": "T", "end": 1578, "referenceAllele": "C", "start": 1577 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_002956644.1:n.1578C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS602782" }, { "coordinates": [ { "allele": "T", "end": 1151, "referenceAllele": "C", "start": 1150 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "XR_946658.2:n.1151C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS614413" }, { "@id": "http://reg.genome.network/allele/PA2825426815", "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048171.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001041636.2:p.Arg336Cys", "hgvsWellDefined": "NP_001041636.2:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676107" }, { "@id": "http://reg.genome.network/allele/PA250998", "coordinates": [ { "allele": "T", "end": 1276, "referenceAllele": "C", "start": 1275 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001128425.2:c.1090C>T" ], "proteinEffect": { "hgvs": "NP_001121897.1:p.Arg364Cys", "hgvsWellDefined": "NP_001121897.1:p.Arg364Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS676985", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Plus Clinical", "nucleotide": { "Ensembl": { "hgvs": "ENST00000710952.2:c.1090C>T" }, "RefSeq": { "hgvs": "NM_001128425.2:c.1090C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000518552.2:p.Arg364Cys" }, "RefSeq": { "hgvs": "NP_001121897.1:p.Arg364Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2825428425", "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048172.2:c.1009C>T" ], "proteinEffect": { "hgvs": "NP_001041637.1:p.Arg337Cys", "hgvsWellDefined": "NP_001041637.1:p.Arg337Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711730" }, { "@id": "http://reg.genome.network/allele/PA2825430036", "coordinates": [ { "allele": "T", "end": 1157, "referenceAllele": "C", "start": 1156 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048173.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001041638.1:p.Arg336Cys", "hgvsWellDefined": "NP_001041638.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711731" }, { "@id": "http://reg.genome.network/allele/PA2825431650", "coordinates": [ { "allele": "T", "end": 1084, "referenceAllele": "C", "start": 1083 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001048174.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001041639.1:p.Arg336Cys", "hgvsWellDefined": "NP_001041639.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS711732", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456914.7:c.1006C>T" }, "RefSeq": { "hgvs": "NM_001048174.2:c.1006C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000407590.2:p.Arg336Cys" }, "RefSeq": { "hgvs": "NP_001041639.1:p.Arg336Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA2826824086", "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293190.2:c.1051C>T" ], "proteinEffect": { "hgvs": "NP_001280119.1:p.Arg351Cys", "hgvsWellDefined": "NP_001280119.1:p.Arg351Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716759" }, { "@id": "http://reg.genome.network/allele/PA2826825728", "coordinates": [ { "allele": "T", "end": 1117, "referenceAllele": "C", "start": 1116 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293191.2:c.1039C>T" ], "proteinEffect": { "hgvs": "NP_001280120.1:p.Arg347Cys", "hgvsWellDefined": "NP_001280120.1:p.Arg347Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716760" }, { "@id": "http://reg.genome.network/allele/PA2826827056", "coordinates": [ { "allele": "T", "end": 1170, "referenceAllele": "C", "start": 1169 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293192.2:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001280121.1:p.Arg244Cys", "hgvsWellDefined": "NP_001280121.1:p.Arg244Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716761" }, { "@id": "http://reg.genome.network/allele/PA2826828661", "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293195.2:c.1006C>T" ], "proteinEffect": { "hgvs": "NP_001280124.1:p.Arg336Cys", "hgvsWellDefined": "NP_001280124.1:p.Arg336Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716762" }, { "@id": "http://reg.genome.network/allele/PA2826829838", "coordinates": [ { "allele": "T", "end": 1093, "referenceAllele": "C", "start": 1092 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001293196.2:c.730C>T" ], "proteinEffect": { "hgvs": "NP_001280125.1:p.Arg244Cys", "hgvsWellDefined": "NP_001280125.1:p.Arg244Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS716763" }, { "@id": "http://reg.genome.network/allele/PA2827557010", "coordinates": [ { "allele": "T", "end": 1160, "referenceAllele": "C", "start": 1159 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350650.2:c.661C>T" ], "proteinEffect": { "hgvs": "NP_001337579.1:p.Arg221Cys", "hgvsWellDefined": "NP_001337579.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS719606" }, { "@id": "http://reg.genome.network/allele/PA2827558223", "coordinates": [ { "allele": "T", "end": 1096, "referenceAllele": "C", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_001350651.2:c.661C>T" ], "proteinEffect": { "hgvs": "NP_001337580.1:p.Arg221Cys", "hgvsWellDefined": "NP_001337580.1:p.Arg221Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS719607" }, { "@id": "http://reg.genome.network/allele/PA2829726536", "coordinates": [ { "allele": "T", "end": 1267, "referenceAllele": "C", "start": 1266 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NM_012222.3:c.1081C>T" ], "proteinEffect": { "hgvs": "NP_036354.1:p.Arg361Cys", "hgvsWellDefined": "NP_036354.1:p.Arg361Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS727852" }, { "coordinates": [ { "allele": "T", "end": 1234, "referenceAllele": "C", "start": 1233 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146882.2:n.1234C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731326" }, { "coordinates": [ { "allele": "T", "end": 1083, "referenceAllele": "C", "start": 1082 } ], "gene": "http://reg.genome.network/gene/GN007527", "geneNCBI_id": 4595, "geneSymbol": "MUTYH", "hgvs": [ "NR_146883.2:n.1083C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731327" } ], "type": "nucleotide" }